#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA2	20	genome.wustl.edu	37	9	139912772	139912772	+	Silent	SNP	C	C	T	rs374748346		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:139912772C>T	ENST00000371605.3	-	13	1995	c.1848G>A	c.(1846-1848)tcG>tcA	p.S616S	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Silent_p.S617S|ABCA2_ENST00000265662.5_Silent_p.S617S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	616					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGGCGGGAGCGAGCCGTCCT	0.662																																																	0									,	0,3922		0,0,1961	72.0	76.0	74.0		1851,1941	-7.9	0.0	9		74	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6087	TT,TC,CC		0.0121,0.0,0.0082	,	617/2437,647/2467	139912772	1,12175	1961	4127	6088	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1848G>A	9.37:g.139912772C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S617	ENST00000371605.3	37	c.1851		9																																																																																			ABCA2	-	NULL		0.662	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139912772	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	silent	SNP	0.730	T
ABCC10	89845	genome.wustl.edu	37	6	43412981	43412981	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:43412981G>T	ENST00000372530.4	+	14	3174	c.2959G>T	c.(2959-2961)Gtg>Ttg	p.V987L	ABCC10_ENST00000244533.3_Missense_Mutation_p.V959L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	987	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTCCGGGCAGTGCTCTTTGC	0.607																																																	0													72.0	54.0	60.0					6																	43412981		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2959G>T	6.37:g.43412981G>T	ENSP00000361608:p.Val987Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V987L	ENST00000372530.4	37	c.2959	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556096	0.45487	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90563	-2.68;-2.69	4.69	2.81	0.32909	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.141120	0.47852	D	0.000202	T	0.58250	0.2109	N	0.05574	-0.02	0.34322	D	0.686715	B;B	0.15141	0.001;0.012	B;B	0.14578	0.003;0.011	T	0.52223	-0.8604	10	0.10636	T	0.68	-34.1719	2.8506	0.05556	0.0945:0.1308:0.4513:0.3234	.	959;987	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	987;959	ENSP00000361608:V987L;ENSP00000244533:V959L	ENSP00000244533:V959L	V	+	1	0	ABCC10	43520959	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.032000	0.49736	2.428000	0.82296	0.563000	0.77884	GTG	ABCC10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	G	NM_033450		43412981	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCC9	10060	genome.wustl.edu	37	12	22063160	22063160	+	Silent	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:22063160G>A	ENST00000261201.4	-	8	1250	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	ABCC9_ENST00000261200.4_Silent_p.V417V|ABCC9_ENST00000345162.2_Silent_p.V417V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	417	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTCAATGGCGACTAAGTTGT	0.378																																																	0													118.0	119.0	118.0					12																	22063160		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1251C>T	12.37:g.22063160G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V417	ENST00000261201.4	37	c.1251	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		22063160	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	0.936	A
ANKRD33	341405	genome.wustl.edu	37	12	52284476	52284476	+	Missense_Mutation	SNP	G	G	A	rs147364846		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:52284476G>A	ENST00000340970.4	+	5	742	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.R55Q|ANKRD33_ENST00000301190.6_Missense_Mutation_p.R249Q			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	124					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTGCTGAGGCGGCCCCAAGTG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		13017	0.0		0.001	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	26.0	28.0	27.0		371,746	3.8	1.0	12	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ANKRD33	NM_001130015.1,NM_182608.3	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	124/273,249/453	52284476	2,13004	2203	4300	6503	SO:0001583	missense	341405				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.371G>A	12.37:g.52284476G>A	ENSP00000344690:p.Arg124Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R124Q	ENST00000340970.4	37	c.371	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472762	0.43942	0.0	2.33E-4	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.32023	1.88;1.47;2.23	4.7	3.81	0.43845	Ankyrin repeat-containing domain (1);	0.067859	0.64402	D	0.000018	T	0.43678	0.1258	M	0.62723	1.935	0.26993	N	0.965106	D;D;P	0.71674	0.992;0.998;0.887	P;P;B	0.59115	0.493;0.852;0.259	T	0.18116	-1.0347	10	0.39692	T	0.17	-9.3031	10.5155	0.44887	0.0964:0.0:0.9036:0.0	.	124;55;249	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	Q	249;55;124	ENSP00000301190:R249Q;ENSP00000443722:R55Q;ENSP00000344690:R124Q	ENSP00000301190:R249Q	R	+	2	0	ANKRD33	50570743	0.967000	0.33354	0.992000	0.48379	0.016000	0.09150	1.991000	0.40727	2.601000	0.87937	0.561000	0.74099	CGG	ANKRD33	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.672	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	HGNC	protein_coding	OTTHUMT00000404515.1	G	NM_182608		52284476	+1	no_errors	ENST00000340970	ensembl	human	known	70_37	missense	SNP	0.872	A
ARMCX4	100131755	genome.wustl.edu	37	X	100748051	100748051	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:100748051A>G	ENST00000423738.3	+	2	4677	c.4475A>G	c.(4474-4476)gAc>gGc	p.D1492G		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						GGGCTTAGGGACCAGTCTAGT	0.582																																																	0																																										SO:0001583	missense	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4475A>G	X.37:g.100748051A>G	ENSP00000404304:p.Asp1492Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.D1492G	ENST00000423738.3	37	c.4475	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	7.701	0.693080	0.15039	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	T	0.36771	0.0979	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	T	0.19910	-1.0291	4	.	.	.	.	8.9354	0.35697	1.0:0.0:0.0:0.0	.	.	.	.	G	1596	.	.	D	+	2	0	ARMCX4	100634707	0.002000	0.14202	0.624000	0.29186	0.709000	0.40893	0.178000	0.16820	1.562000	0.49601	0.410000	0.27636	GAC	ARMCX4	-	NULL		0.582	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	A	NM_001256155		100748051	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	missense	SNP	0.553	G
ASXL1	171023	genome.wustl.edu	37	20	31020682	31020682	+	Splice_Site	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr20:31020682G>T	ENST00000375687.4	+	11	1403		c.e11-1		ASXL1_ENST00000306058.5_Splice_Site	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTCTCCCTAGGTGAATTTAC	0.388			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													87.0	84.0	85.0					20																	31020682		2203	4300	6503	SO:0001630	splice_region_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.980-1G>T	20.37:g.31020682G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Splice_Site	SNP	-	e11-1	ENST00000375687.4	37	c.980-1	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102388	0.76983	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8984	0.88896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL1	30484343	1.000000	0.71417	0.962000	0.40283	0.435000	0.31806	9.073000	0.93992	2.452000	0.82932	0.655000	0.94253	.	ASXL1	-	-		0.388	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	G	NM_015338	Intron	31020682	+1	no_errors	ENST00000375687	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ATCAY	85300	genome.wustl.edu	37	19	3907823	3907823	+	Silent	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:3907823C>T	ENST00000450849.2	+	5	917	c.450C>T	c.(448-450)aaC>aaT	p.N150N	ATCAY_ENST00000398448.3_Silent_p.N156N|ATCAY_ENST00000600960.1_Silent_p.N150N|ATCAY_ENST00000301260.6_Silent_p.N150N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	150					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGCCGCCAACGGGCGCCTGT	0.632																																																	0													44.0	55.0	52.0					19																	3907823		2046	4187	6233	SO:0001819	synonymous_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.450C>T	19.37:g.3907823C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.N150	ENST00000450849.2	37	c.450	CCDS45923.1	19																																																																																			ATCAY	-	pfam_Bcl2-/adenovirus-E1B		0.632	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	C			3907823	+1	no_errors	ENST00000301260	ensembl	human	known	70_37	silent	SNP	0.998	T
ATG2B	55102	genome.wustl.edu	37	14	96813614	96813614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:96813614G>T	ENST00000359933.4	-	2	1120	c.227C>A	c.(226-228)tCa>tAa	p.S76*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	76					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGGGAAATTGACTGAATGAA	0.453																																																	0													98.0	96.0	97.0					14																	96813614		1973	4178	6151	SO:0001587	stop_gained	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.227C>A	14.37:g.96813614G>T	ENSP00000353010:p.Ser76*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S76*	ENST00000359933.4	37	c.227	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	46	12.313792	0.99656	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.39	5.39	0.77823	.	0.185685	0.35525	U	0.003155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1422	0.93450	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000353010:S76X	S	-	2	0	ATG2B	95883367	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	9.869000	0.99810	2.530000	0.85305	0.561000	0.74099	TCA	ATG2B	-	NULL		0.453	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	G	NM_018036		96813614	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108121537	108121537	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:108121537G>T	ENST00000452508.2	+	11	1534	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	ATM_ENST00000278616.4_Missense_Mutation_p.G449W			Q13315	ATM_HUMAN	ATM serine/threonine kinase	449					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAGCGACATGGGGAACGTAC	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													114.0	97.0	102.0					11																	108121537		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1345G>T	11.37:g.108121537G>T	ENSP00000388058:p.Gly449Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G449W	ENST00000452508.2	37	c.1345	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057533	0.76074	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02236	4.38;4.72;4.72	6.08	5.16	0.70880	Armadillo-type fold (1);	0.108662	0.64402	D	0.000007	T	0.11965	0.0291	M	0.66939	2.045	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.00571	-1.1665	10	0.72032	D	0.01	.	16.6982	0.85341	0.0:0.0:0.8695:0.1305	.	449	Q13315	ATM_HUMAN	W	449	ENSP00000435747:G449W;ENSP00000278616:G449W;ENSP00000388058:G449W	ENSP00000278616:G449W	G	+	1	0	ATM	107626747	1.000000	0.71417	0.476000	0.27291	0.795000	0.44927	9.313000	0.96297	1.542000	0.49330	0.591000	0.81541	GGG	ATM	-	superfamily_ARM-type_fold		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108121537	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	T
ATXN3L	92552	genome.wustl.edu	37	X	13337277	13337277	+	Silent	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:13337277G>A	ENST00000380622.2	-	1	1241	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	259					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATGTGTTTCCGGAACTACCTT	0.428																																																	0													350.0	302.0	317.0					X																	13337277		1568	3582	5150	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.777C>T	X.37:g.13337277G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNY8	Silent	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.S259	ENST00000380622.2	37	c.777	CCDS48080.1	X																																																																																			ATXN3L	-	smart_Ubiquitin-int_motif		0.428	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	G	NM_001135995		13337277	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	silent	SNP	0.010	A
BCL2L11	10018	genome.wustl.edu	37	2	111907704	111907704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:111907704delA	ENST00000393256.3	+	3	751	c.478delA	c.(478-480)aacfs	p.N160fs	BCL2L11_ENST00000393253.2_Frame_Shift_Del_p.N70fs|BCL2L11_ENST00000308659.8_Frame_Shift_Del_p.N100fs|BCL2L11_ENST00000357757.2_Frame_Shift_Del_p.N160fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	160					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGACGAGTTTAACGCTTACTA	0.463																																																	0													165.0	123.0	137.0					2																	111907704		2203	4300	6503	SO:0001589	frameshift_variant	10018			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.478delA	2.37:g.111907704delA	ENSP00000376943:p.Asn160fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Del	DEL	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.N160fs	ENST00000393256.3	37	c.478	CCDS2089.1	2																																																																																			BCL2L11	-	pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11		0.463	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	A			111907704	+1	no_errors	ENST00000393256	ensembl	human	known	70_37	frame_shift_del	DEL	0.983	-
BRMS1	25855	genome.wustl.edu	37	11	66107661	66107661	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:66107661C>T	ENST00000359957.3	-	7	719	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.A187T	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	187					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCTCTGGCGTGCAGTTTG	0.572																																					GBM(7;55 307 2662 20856 28942)												0													68.0	61.0	64.0					11																	66107661		2200	4295	6495	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.559G>A	11.37:g.66107661C>T	ENSP00000353042:p.Ala187Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.A187T	ENST00000359957.3	37	c.559	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.329953|1.329953	0.24167|0.24167	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	5.02|5.02	0.624|0.624	0.17659|0.17659	.|.	0.843870|.	0.10778|.	N|.	0.635199|.	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.01874|0.01874	-0.695|-0.695	0.24730|0.24730	N|N	0.99309|0.99309	B;B|.	0.17465|.	0.0;0.022|.	B;B|.	0.13407|.	0.001;0.009|.	T|T	0.29027|0.29027	-1.0025|-1.0025	9|5	0.13853|.	T|.	0.58|.	-4.0403|-4.0403	0.396|0.396	0.00418|0.00418	0.2808:0.3025:0.2035:0.2133|0.2808:0.3025:0.2035:0.2133	.|.	187;187|.	Q9HCU9;G5E9I4|.	BRMS1_HUMAN;.|.	T|H	187|149	.|.	ENSP00000353042:A187T|.	A|R	-|-	1|2	0|0	BRMS1|BRMS1	65864237|65864237	0.166000|0.166000	0.22962|0.22962	0.850000|0.850000	0.33497|0.33497	0.717000|0.717000	0.41224|0.41224	0.072000|0.072000	0.14617|0.14617	0.129000|0.129000	0.18514|0.18514	0.462000|0.462000	0.41574|0.41574	GCC|CGC	BRMS1	-	pfam_Sds3		0.572	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	C	NM_015399		66107661	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.771	T
C10orf71	118461	genome.wustl.edu	37	10	50534359	50534359	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr10:50534359C>T	ENST00000374144.3	+	3	4057	c.3769C>T	c.(3769-3771)Cgg>Tgg	p.R1257W	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1257										endometrium(1)	1						TGTCGGGAGGCGGCCCGGGGG	0.697																																																	0													2.0	5.0	4.0					10																	50534359		526	1363	1889	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3769C>T	10.37:g.50534359C>T	ENSP00000363259:p.Arg1257Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL8	Missense_Mutation	SNP	NULL	p.R1257W	ENST00000374144.3	37	c.3769	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	c	12.72	2.023018	0.35701	.	.	ENSG00000177354	ENST00000374144	T	0.05319	3.46	5.81	-1.93	0.07594	.	0.773231	0.10438	N	0.674635	T	0.07818	0.0196	L	0.53249	1.67	0.09310	N	1	.	.	.	.	.	.	T	0.35226	-0.9797	8	0.51188	T	0.08	.	2.8099	0.05439	0.4324:0.3218:0.0892:0.1565	.	.	.	.	W	1257	ENSP00000363259:R1257W	ENSP00000363259:R1257W	R	+	1	2	C10orf71	50204365	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.111000	0.10807	-0.167000	0.10871	0.479000	0.44913	CGG	C10orf71	-	NULL		0.697	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50534359	+1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.000	T
CALHM3	119395	genome.wustl.edu	37	10	105233227	105233227	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr10:105233227G>A	ENST00000369783.4	-	3	985	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	260					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)	2						TTGCCCCGGCGCAGCCCCCGC	0.672																																																	0													6.0	11.0	9.0					10																	105233227		679	1578	2257	SO:0001583	missense	119395			BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.778C>T	10.37:g.105233227G>A	ENSP00000358798:p.Arg260Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W090|Q8IXR2	Missense_Mutation	SNP	NULL	p.R260C	ENST00000369783.4	37	c.778	CCDS44476.1	10	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515723	0.64634	.	.	ENSG00000183128	ENST00000369783	T	0.18502	2.21	4.14	4.14	0.48551	.	0.425946	0.17450	N	0.173822	T	0.17831	0.0428	L	0.29908	0.895	0.38371	D	0.944866	D	0.57571	0.98	P	0.49047	0.599	T	0.02220	-1.1193	10	0.38643	T	0.18	-2.1509	12.2122	0.54386	0.0:0.0:1.0:0.0	.	260	Q86XJ0-2	.	C	260	ENSP00000358798:R260C	ENSP00000358798:R260C	R	-	1	0	CALHM3	105223217	0.001000	0.12720	0.864000	0.33941	0.024000	0.10985	0.165000	0.16564	2.590000	0.87494	0.462000	0.41574	CGC	CALHM3	-	NULL		0.672	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM3	HGNC	protein_coding	OTTHUMT00000050157.1	G	NM_182494		105233227	-1	no_errors	ENST00000369783	ensembl	human	known	70_37	missense	SNP	0.945	A
CDC42BPB	9578	genome.wustl.edu	37	14	103406615	103406615	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:103406615G>T	ENST00000361246.2	-	31	4743	c.4455C>A	c.(4453-4455)gaC>gaA	p.D1485E		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CATCAAAGACGTCCACGCCAT	0.667																																																	0													53.0	39.0	44.0					14																	103406615		2200	4292	6492	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4455C>A	14.37:g.103406615G>T	ENSP00000355237:p.Asp1485Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D1485E	ENST00000361246.2	37	c.4455	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550701	0.86127	.	.	ENSG00000198752	ENST00000361246	T	0.02498	4.27	4.62	-4.93	0.03066	Citron-like (3);	0.047040	0.85682	D	0.000000	T	0.11580	0.0282	M	0.81179	2.53	0.58432	D	0.999993	P	0.42973	0.796	P	0.59595	0.86	T	0.00284	-1.1848	10	0.87932	D	0	.	15.892	0.79305	0.8786:0.0:0.1214:0.0	.	1485	Q9Y5S2	MRCKB_HUMAN	E	1485	ENSP00000355237:D1485E	ENSP00000355237:D1485E	D	-	3	2	CDC42BPB	102476368	0.898000	0.30612	0.893000	0.35052	0.967000	0.64934	0.012000	0.13287	-0.913000	0.03832	-0.140000	0.14226	GAC	CDC42BPB	-	pfam_Citron,smart_Citron		0.667	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103406615	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	0.973	T
CDC42BPG	55561	genome.wustl.edu	37	11	64608046	64608046	+	Silent	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:64608046G>A	ENST00000342711.5	-	4	410	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGTCTTGGAAGGCATAGTGCA	0.632											OREG0004018	type=REGULATORY REGION|Gene=LOC518121|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													115.0	90.0	98.0					11																	64608046		2201	4297	6498	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.411C>T	11.37:g.64608046G>A		Somatic	1077	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A137	ENST00000342711.5	37	c.411	CCDS31601.1	11																																																																																			CDC42BPG	-	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		0.632	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64608046	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	silent	SNP	1.000	A
CDH24	64403	genome.wustl.edu	37	14	23517581	23517581	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:23517581C>T	ENST00000267383.5	-	12	2160	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CDH24_ENST00000397359.3_Missense_Mutation_p.G690S|CDH24_ENST00000487137.2_Missense_Mutation_p.G652S|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.G652S			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	690					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCCTCGCCGCCGCCCTCGTCG	0.692																																																	0													75.0	81.0	79.0					14																	23517581		2203	4299	6502	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2068G>A	14.37:g.23517581C>T	ENSP00000267383:p.Gly690Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G690S	ENST00000267383.5	37	c.2068	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953035	0.92660	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	4.05	4.05	0.47172	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	H	0.95365	3.66	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95404	0.8492	10	0.87932	D	0	.	15.1654	0.72821	0.0:1.0:0.0:0.0	.	652;690	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	S	690;652;185;652;690	ENSP00000380517:G690S;ENSP00000434821:G652S;ENSP00000452493:G652S;ENSP00000267383:G690S	ENSP00000267383:G690S	G	-	1	0	CDH24	22587421	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.431000	0.80335	2.096000	0.63516	0.655000	0.94253	GGC	CDH24	-	pfam_Cadherin_cytoplasmic-dom		0.692	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	C	NM_022478		23517581	-1	no_errors	ENST00000267383	ensembl	human	known	70_37	missense	SNP	1.000	T
CELSR1	9620	genome.wustl.edu	37	22	46790106	46790106	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr22:46790106C>T	ENST00000262738.3	-	14	5896	c.5897G>A	c.(5896-5898)tGc>tAc	p.C1966Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1966	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCACAGTGGCAGGGTCCACA	0.587																																																	0													71.0	53.0	59.0					22																	46790106		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5897G>A	22.37:g.46790106C>T	ENSP00000262738:p.Cys1966Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C1966Y	ENST00000262738.3	37	c.5897	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677377	0.68042	.	.	ENSG00000075275	ENST00000262738	D	0.86694	-2.16	3.47	3.47	0.39725	.	0.000000	0.85682	U	0.000000	D	0.93019	0.7778	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.94214	0.7461	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	287;1966	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Y	1966	ENSP00000262738:C1966Y	ENSP00000262738:C1966Y	C	-	2	0	CELSR1	45168770	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.222000	0.78025	1.663000	0.50791	0.462000	0.41574	TGC	CELSR1	-	NULL		0.587	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46790106	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	1.000	T
CHCHD6	84303	genome.wustl.edu	37	3	126679200	126679200	+	3'UTR	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr3:126679200G>A	ENST00000290913.3	+	0	957					NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6						cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CAAAGTATGCGCTACTGTCTG	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	84303			BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.*156G>A	3.37:g.126679200G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D6R9U0|D6RIB4|H8Y0Y7	RNA	SNP	-	NULL	ENST00000290913.3	37	NULL	CCDS3041.1	3																																																																																			CHCHD6	-	-		0.542	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD6	HGNC	protein_coding	OTTHUMT00000356432.1	G	NM_032343		126679200	+1	no_errors	ENST00000504973	ensembl	human	known	70_37	rna	SNP	0.005	A
CROCC	9696	genome.wustl.edu	37	1	17265601	17265601	+	Frame_Shift_Del	DEL	C	C	-	rs146792981	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:17265601delC	ENST00000375541.5	+	12	1641	c.1572delC	c.(1570-1572)atcfs	p.I524fs	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCGCCCTGATCCACTCCGCCC	0.751																																																	0													6.0	6.0	6.0					1																	17265601		2025	3910	5935	SO:0001589	frameshift_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1572delC	1.37:g.17265601delC	ENSP00000364691:p.Ile524fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Del	DEL	superfamily_Prefoldin,superfamily_t-SNARE	p.H525fs	ENST00000375541.5	37	c.1572	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.751	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	C	NM_014675		17265601	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-
CLCA2	9635	genome.wustl.edu	37	1	86921139	86921139	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:86921139G>T	ENST00000370565.4	+	14	2923	c.2761G>T	c.(2761-2763)Gtt>Ttt	p.V921F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	921					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTATTATAGTTGTGACACA	0.338																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													92.0	100.0	97.0					1																	86921139		2203	4300	6503	SO:0001583	missense	9635				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2761G>T	1.37:g.86921139G>T	ENSP00000359596:p.Val921Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V921F	ENST00000370565.4	37	c.2761	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494054	0.12702	.	.	ENSG00000137975	ENST00000370565	T	0.03181	4.02	5.62	2.4	0.29515	.	0.569682	0.17321	N	0.178514	T	0.01092	0.0036	L	0.55481	1.735	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48139	-0.9061	10	0.11794	T	0.64	-7.9438	6.1942	0.20540	0.2937:0.0:0.5709:0.1354	.	921	Q9UQC9	CLCA2_HUMAN	F	921	ENSP00000359596:V921F	ENSP00000359596:V921F	V	+	1	0	CLCA2	86693727	0.089000	0.21612	0.357000	0.25798	0.851000	0.48451	0.369000	0.20416	0.739000	0.32628	0.591000	0.81541	GTT	CLCA2	-	NULL		0.338	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	G	NM_006536		86921139	+1	no_errors	ENST00000370565	ensembl	human	known	70_37	missense	SNP	0.068	T
CYP27B1	1594	genome.wustl.edu	37	12	58157567	58157567	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:58157567C>T	ENST00000228606.4	-	8	1449	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	414					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CTTGAAGTGGCATAGTGACAC	0.542																																																	0													56.0	60.0	58.0					12																	58157567		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1240G>A	12.37:g.58157567C>T	ENSP00000228606:p.Ala414Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A414T	ENST00000228606.4	37	c.1240	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369613	0.61624	.	.	ENSG00000111012	ENST00000228606	T	0.71817	-0.6	4.7	3.76	0.43208	.	0.055430	0.64402	D	0.000001	T	0.66228	0.2768	L	0.52573	1.65	0.80722	D	1	B	0.23540	0.087	B	0.30572	0.117	T	0.66736	-0.5848	10	0.46703	T	0.11	.	13.2133	0.59839	0.1596:0.8404:0.0:0.0	.	414	O15528	CP27B_HUMAN	T	414	ENSP00000228606:A414T	ENSP00000228606:A414T	A	-	1	0	CYP27B1	56443834	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.666000	0.54540	2.448000	0.82819	0.462000	0.41574	GCC	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.542	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1	C	NM_000785		58157567	-1	no_errors	ENST00000228606	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124358220	124358220	+	Missense_Mutation	SNP	G	G	A	rs552303091	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:124358220G>A	ENST00000409039.3	+	45	7572	c.7547G>A	c.(7546-7548)cGc>cAc	p.R2516H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2516	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGGGAAAACGCCTGCTGGTG	0.488													G|||	12	0.00239617	0.0	0.0	5008	,	,		21208	0.0		0.0	False		,,,				2504	0.0123																0													49.0	47.0	48.0					12																	124358220		1946	4147	6093	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7547G>A	12.37:g.124358220G>A	ENSP00000386770:p.Arg2516His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R2516H	ENST00000409039.3	37	c.7547	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748704	0.89753	.	.	ENSG00000197653	ENST00000409039	T	0.37058	1.22	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.63616	0.2526	M	0.78456	2.415	0.58432	D	0.999994	D	0.89917	1.0	D	0.74023	0.982	T	0.66456	-0.5919	10	0.66056	D	0.02	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	2516	Q8IVF4	DYH10_HUMAN	H	2516	ENSP00000386770:R2516H	ENSP00000386770:R2516H	R	+	2	0	DNAH10	122924173	1.000000	0.71417	0.977000	0.42913	0.833000	0.47200	7.952000	0.87827	2.599000	0.87857	0.561000	0.74099	CGC	DNAH10	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124358220	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A
DSE	29940	genome.wustl.edu	37	6	116720653	116720653	+	Silent	SNP	C	C	G	rs143347973		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:116720653C>G	ENST00000331677.3	+	3	684	c.240C>G	c.(238-240)tcC>tcG	p.S80S	DSE_ENST00000452085.3_Silent_p.S80S|DSE_ENST00000359564.2_Silent_p.S80S|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.S99S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	80					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CGATGCTGTCCAGCCCCTTGG	0.587																																																	0													44.0	41.0	42.0					6																	116720653		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.240C>G	6.37:g.116720653C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.S99	ENST00000331677.3	37	c.297	CCDS5107.1	6																																																																																			DSE	-	superfamily_Chondroitin_lyas		0.587	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116720653	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	1.000	G
EGFR	1956	genome.wustl.edu	37	7	55272966	55272966	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:55272966G>A	ENST00000275493.2	+	28	3466	c.3289G>A	c.(3289-3291)Gtt>Att	p.V1097I	EGFR_ENST00000454757.2_Missense_Mutation_p.V1044I|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1097					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAACCAGTCCGTTCCCAAAAG	0.527		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													60.0	57.0	58.0					7																	55272966		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3289G>A	7.37:g.55272966G>A	ENSP00000275493:p.Val1097Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V1097I	ENST00000275493.2	37	c.3289	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315155	0.23908	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.75704	-0.96;-0.96	5.2	-5.61	0.02489	.	1.212360	0.05697	N	0.593340	T	0.58380	0.2118	L	0.31752	0.955	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40924	-0.9537	10	0.26408	T	0.33	.	9.0572	0.36412	0.5448:0.0:0.359:0.0962	.	1097	P00533	EGFR_HUMAN	I	967;1097;1044	ENSP00000275493:V1097I;ENSP00000395243:V1044I	ENSP00000275493:V1097I	V	+	1	0	EGFR	55240460	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-0.141000	0.10327	-1.664000	0.01479	-0.261000	0.10672	GTT	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55272966	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	0.000	A
RP11-706O15.1	0	genome.wustl.edu	37	X	3747140	3747140	+	Intron	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:3747140G>T	ENST00000425492.2	-	2	546																											GGAGCCTTGGGGGCTGGGACT	0.537																																																	0																																										SO:0001627	intron_variant	0																														ENST00000425492.2:c.171+264C>A	X.37:g.3747140G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425492.2	37	NULL		X																																																																																			RP11-706O15.1	-	-		0.537	RP11-706O15.1-009	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000205664	Clone_based_vega_gene	protein_coding	OTTHUMT00000144334.1	G			3747140	-1	no_errors	ENST00000483918	ensembl	human	known	70_37	rna	SNP	0.004	T
LOC101929579	101929579	genome.wustl.edu	37	3	107084077	107084077	+	RNA	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr3:107084077C>T	ENST00000408062.1	+	0	49																											gcggtttttgccattgaaagt	0.323																																																	0																																												0																															3.37:g.107084077C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408062.1	37	NULL		3																																																																																			AC063944.1	-	-		0.323	AC063944.1-201	NOVEL	basic	miRNA	ENSG00000220989	Clone_based_ensembl_gene	miRNA		C			107084077	+1	no_errors	ENST00000408062	ensembl	human	novel	70_37	rna	SNP	0.424	T
SARDH	1757	genome.wustl.edu	37	9	136567998	136567998	+	Intron	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:136567998G>A	ENST00000371872.4	-	13	1926				SARDH_ENST00000371868.1_Intron|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000439388.1_Intron	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGAGGGACAGGCAGAAGGACG	0.672																																																	0													31.0	32.0	32.0					9																	136567998		2201	4299	6500	SO:0001627	intron_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1668+39C>T	9.37:g.136567998G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	NULL	p.A132T	ENST00000371872.4	37	c.394	CCDS6978.1	9																																																																																			AL590710.2	-	NULL		0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269369	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000054931.1	G			136567998	+1	no_errors	ENST00000601113	ensembl	human	known	70_37	missense	SNP	0.016	A
ERBB3	2065	genome.wustl.edu	37	12	56493441	56493441	+	Missense_Mutation	SNP	T	T	C	rs540444132		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:56493441T>C	ENST00000267101.3	+	24	3289	c.2849T>C	c.(2848-2850)aTt>aCt	p.I950T	ERBB3_ENST00000450146.2_Missense_Mutation_p.I307T|ERBB3_ENST00000553131.1_Missense_Mutation_p.I191T|ERBB3_ENST00000415288.2_Missense_Mutation_p.I891T|ERBB3_ENST00000549832.1_Missense_Mutation_p.I70T|RP11-603J24.9_ENST00000548861.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	950	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTTGGATGATTGATGAGAAC	0.493													T|||	1	0.000199681	0.0	0.0	5008	,	,		18207	0.0		0.0	False		,,,				2504	0.001																0													91.0	86.0	88.0					12																	56493441		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2849T>C	12.37:g.56493441T>C	ENSP00000267101:p.Ile950Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I950T	ENST00000267101.3	37	c.2849	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691772	0.88735	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.11	6.11	0.99139	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.68146	0.2969	N	0.17838	0.53	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.87578	0.976;0.998;0.988	T	0.72903	-0.4151	10	0.87932	D	0	.	15.6822	0.77381	0.0:0.0:0.0:1.0	.	891;70;950	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	T	950;307;891;73;191;70	ENSP00000267101:I950T;ENSP00000399178:I307T;ENSP00000408340:I891T;ENSP00000449129:I191T;ENSP00000448729:I70T	ENSP00000267101:I950T	I	+	2	0	ERBB3	54779708	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.748000	0.85085	2.343000	0.79666	0.496000	0.49642	ATT	ERBB3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	T			56493441	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	C
ESRP1	54845	genome.wustl.edu	37	8	95718132	95718134	+	Intron	DEL	TTT	TTT	-	rs61112381|rs555964686|rs549663362|rs55760931	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	TTT	TTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr8:95718132_95718134delTTT	ENST00000433389.2	+	16	2271				ESRP1_ENST00000423620.2_Intron|ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000523347.1_3'UTR|ESRP1_ENST00000358397.5_Intron	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1						mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTTTATTCACTTTTTTTTTTTTT	0.33														3321	0.663139	0.9713	0.6542	5008	,	,		19196	0.4702		0.6093	False		,,,				2504	0.5072																0																																										SO:0001627	intron_variant	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.2044-19TTT>-	8.37:g.95718141_95718143delTTT		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	RNA	DEL	-	NULL	ENST00000433389.2	37	NULL	CCDS47897.1	8																																																																																			ESRP1	-	-		0.330	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	TTT	NM_017697		95718134	+1	no_errors	ENST00000523347	ensembl	human	known	70_37	rna	DEL	0.006:0.007:0.008	-
FAM154A	158297	genome.wustl.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	C	T	rs144484870	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:18941665C>T	ENST00000380534.4	-	3	670	c.391G>A	c.(391-393)Gac>Aac	p.D131N	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	131								p.D131N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCCATCTTGTCGCTACATGGA	0.493																																																	2	Substitution - Missense(2)	lung(2)							ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	157.0	134.0	142.0		391	3.0	0.0	9	dbSNP_134	142	14,8586	10.5+/-38.8	0,14,4286	yes	missense	FAM154A	NM_153707.2	23	0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153	benign	131/475	18941665	15,12991	2203	4300	6503	SO:0001583	missense	158297			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.391G>A	9.37:g.18941665C>T	ENSP00000369907:p.Asp131Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VY58	Missense_Mutation	SNP	NULL	p.D131N	ENST00000380534.4	37	c.391	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.120454	0.00346	2.27E-4	0.001628	ENSG00000155875	ENST00000380534	T	0.17213	2.29	5.84	3.03	0.35002	.	0.559952	0.17229	N	0.182013	T	0.18383	0.0441	L	0.60455	1.87	0.09310	N	0.999999	B	0.12013	0.005	B	0.22880	0.042	T	0.21484	-1.0244	10	0.28530	T	0.3	-7.3318	11.0007	0.47604	0.0:0.7841:0.0:0.2159	.	131	Q8IYX7	F154A_HUMAN	N	131	ENSP00000369907:D131N	ENSP00000369907:D131N	D	-	1	0	FAM154A	18931665	0.364000	0.24997	0.015000	0.15790	0.008000	0.06430	0.669000	0.25142	0.117000	0.18138	-2.101000	0.00361	GAC	FAM154A	-	NULL		0.493	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	C	NM_153707		18941665	-1	no_errors	ENST00000380534	ensembl	human	known	70_37	missense	SNP	0.049	T
FAM163A	148753	genome.wustl.edu	37	1	179783311	179783311	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:179783311G>T	ENST00000341785.4	+	5	887	c.491G>T	c.(490-492)aGt>aTt	p.S164I	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	164						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGGCTATTAGTACAGACGTG	0.627																																																	0													60.0	70.0	67.0					1																	179783311		2203	4300	6503	SO:0001583	missense	148753			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.491G>T	1.37:g.179783311G>T	ENSP00000354891:p.Ser164Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8R7	Missense_Mutation	SNP	NULL	p.S164I	ENST00000341785.4	37	c.491	CCDS1333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632928	0.67015	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80322	-0.1431	9	0.87932	D	0	-8.8189	15.9984	0.80268	0.0:0.0:1.0:0.0	.	164	Q96GL9	F163A_HUMAN	I	164	.	ENSP00000354891:S164I	S	+	2	0	FAM163A	178049934	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.218000	0.89768	2.384000	0.81235	0.655000	0.94253	AGT	FAM163A	-	NULL		0.627	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	G	NM_173509		179783311	+1	no_errors	ENST00000341785	ensembl	human	known	70_37	missense	SNP	1.000	T
FANCM	57697	genome.wustl.edu	37	14	45623980	45623980	+	Missense_Mutation	SNP	C	C	T	rs150574630		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:45623980C>T	ENST00000267430.5	+	7	1349	c.1264C>T	c.(1264-1266)Cgt>Tgt	p.R422C	FANCM_ENST00000556036.1_Missense_Mutation_p.R422C|FANCM_ENST00000542564.2_Missense_Mutation_p.R396C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	422					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATGTTTGCACGTACACGTAG	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0								C	CYS/ARG	0,4406		0,0,2203	83.0	84.0	83.0		1264	1.4	0.0	14	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCM	NM_020937.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	422/2049	45623980	1,13005	2203	4300	6503	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1264C>T	14.37:g.45623980C>T	ENSP00000267430:p.Arg422Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R422C	ENST00000267430.5	37	c.1264	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846641	0.51164	0.0	1.16E-4	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.43688	0.94;0.94;0.94;2.19	4.43	1.39	0.22231	.	0.603220	0.17759	N	0.162977	T	0.16085	0.0387	N	0.14661	0.345	0.23483	N	0.997583	P;B;P	0.47841	0.738;0.437;0.901	B;B;B	0.31016	0.064;0.03;0.123	T	0.19386	-1.0307	10	0.56958	D	0.05	.	3.3339	0.07094	0.1243:0.3511:0.4131:0.1114	.	396;422;422	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	C	422;422;396;7	ENSP00000450596:R422C;ENSP00000267430:R422C;ENSP00000442493:R396C;ENSP00000452033:R7C	ENSP00000267430:R422C	R	+	1	0	FANCM	44693730	0.198000	0.23374	0.039000	0.18376	0.324000	0.28378	1.628000	0.37060	0.318000	0.23185	0.460000	0.39030	CGT	FANCM	-	NULL		0.343	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	C	XM_048128		45623980	+1	no_errors	ENST00000267430	ensembl	human	known	70_37	missense	SNP	0.674	T
FLCN	201163	genome.wustl.edu	37	17	17127274	17127274	+	Missense_Mutation	SNP	G	G	A	rs138070947	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr17:17127274G>A	ENST00000285071.4	-	6	1034	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	FLCN_ENST00000389169.5_Missense_Mutation_p.R194W|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	194					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGATTCCCCGGACCTTCCCC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	58.0	52.0	54.0		580,580	5.7	1.0	17	dbSNP_134	54	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	FLCN	NM_144606.5,NM_144997.5	101,101	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging,probably-damaging	194/343,194/580	17127274	6,13000	2203	4300	6503	SO:0001583	missense	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.580C>T	17.37:g.17127274G>A	ENSP00000285071:p.Arg194Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.R194W	ENST00000285071.4	37	c.580	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501454	0.85176	0.0	6.98E-4	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000417064	D;D;D	0.88741	-2.42;-2.42;-2.42	5.74	5.74	0.90152	.	0.096155	0.64402	D	0.000002	D	0.91965	0.7455	L	0.49778	1.585	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.71656	0.971;0.974	D	0.91851	0.5491	10	0.72032	D	0.01	-25.8967	12.8374	0.57782	0.0:0.0:0.7468:0.2532	.	194;194	Q8NFG4-2;Q8NFG4	.;FLCN_HUMAN	W	194;194;141	ENSP00000285071:R194W;ENSP00000373821:R194W;ENSP00000410410:R141W	ENSP00000285071:R194W	R	-	1	2	FLCN	17067999	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.485000	0.53208	2.873000	0.98535	0.561000	0.74099	CGG	FLCN	-	pfam_Folliculin		0.622	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	G	NM_144606		17127274	-1	no_errors	ENST00000285071	ensembl	human	known	70_37	missense	SNP	0.992	A
FLT4	2324	genome.wustl.edu	37	5	180058719	180058719	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:180058719C>T	ENST00000261937.6	-	2	196	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	FLT4_ENST00000502649.1_Missense_Mutation_p.V40I|FLT4_ENST00000393347.3_Missense_Mutation_p.V40I|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	40	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTCGATGACGTGTGACTCC	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													116.0	96.0	103.0					5																	180058719		2202	4300	6502	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.118G>A	5.37:g.180058719C>T	ENSP00000261937:p.Val40Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.V40I	ENST00000261937.6	37	c.118	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264253	0.23136	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.25579	1.79;1.79;1.79	4.44	-1.0	0.10196	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11665	0.0284	N	0.25201	0.72	0.44373	D	0.997272	P;P;P;B;B	0.45827	0.867;0.675;0.624;0.034;0.034	B;B;B;B;B	0.35931	0.214;0.176;0.172;0.045;0.027	T	0.28299	-1.0048	9	0.17832	T	0.49	.	8.8443	0.35162	0.0:0.5992:0.0:0.4008	.	40;40;40;40;40	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	I	40	ENSP00000261937:V40I;ENSP00000377016:V40I;ENSP00000426057:V40I	ENSP00000261937:V40I	V	-	1	0	FLT4	179991325	0.029000	0.19370	0.013000	0.15412	0.287000	0.27160	-0.302000	0.08221	-0.506000	0.06558	0.555000	0.69702	GTC	FLT4	-	smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180058719	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	0.937	T
FOLH1	2346	genome.wustl.edu	37	11	49221932	49221932	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:49221932T>A	ENST00000256999.2	-	3	546	c.286A>T	c.(286-288)Att>Ttt	p.I96F	FOLH1_ENST00000533034.1_Missense_Mutation_p.I81F|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.I96F|FOLH1_ENST00000340334.7_Missense_Mutation_p.I81F	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	96					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGGGATTGAATTTGCTTTGCA	0.373																																																	0													71.0	71.0	71.0					11																	49221932		2199	4296	6495	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.286A>T	11.37:g.49221932T>A	ENSP00000256999:p.Ile96Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.I96F	ENST00000256999.2	37	c.286	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442093	0.83993	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.112412	0.39274	N	0.001404	T	0.72692	0.3492	M	0.91090	3.175	0.80722	D	1	D;D;B;P	0.71674	0.986;0.998;0.268;0.543	D;D;B;B	0.70716	0.94;0.97;0.328;0.351	T	0.79410	-0.1815	10	0.87932	D	0	.	12.303	0.54884	0.0:0.0:0.0:1.0	.	81;81;96;96	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	F	96;96;81;81;96;39	ENSP00000256999:I96F;ENSP00000349129:I96F;ENSP00000344131:I81F;ENSP00000431463:I81F;ENSP00000431577:I39F	ENSP00000256999:I96F	I	-	1	0	FOLH1	49178508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.757000	0.47557	2.019000	0.59389	0.416000	0.27883	ATT	FOLH1	-	NULL		0.373	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	T	NM_004476		49221932	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM3	166752	genome.wustl.edu	37	4	144618142	144618142	+	Silent	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr4:144618142G>A	ENST00000329798.5	-	1	3686	c.3687C>T	c.(3685-3687)caC>caT	p.H1229H		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1229					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGAGTTGAAAGTGGAGCTCAT	0.542																																																	0													206.0	189.0	194.0					4																	144618142		692	1591	2283	SO:0001819	synonymous_variant	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.3687C>T	4.37:g.144618142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.H1229	ENST00000329798.5	37	c.3687	CCDS54808.1	4																																																																																			FREM3	-	superfamily_Cadherin-like		0.542	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	G	XM_094074		144618142	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	silent	SNP	0.768	A
GALNT11	63917	genome.wustl.edu	37	7	151814303	151814303	+	Missense_Mutation	SNP	G	G	A	rs375106713		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:151814303G>A	ENST00000434507.1	+	11	1732	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	GALNT11_ENST00000430044.2_Missense_Mutation_p.R432H|GALNT11_ENST00000320311.2_Missense_Mutation_p.R432H|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Missense_Mutation_p.R351H			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	432					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATCAGTGAGCGTGTGGAACTG	0.373																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	153.0	152.0		1295	5.7	1.0	7		152	0,8600		0,0,4300	no	missense	GALNT11	NM_022087.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	432/609	151814303	1,13005	2203	4300	6503	SO:0001583	missense	63917			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1295G>A	7.37:g.151814303G>A	ENSP00000416787:p.Arg432His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R432H	ENST00000434507.1	37	c.1295	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971915	0.74246	2.27E-4	0.0	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.91090	3.175	0.80722	D	1	P;P;P	0.42908	0.793;0.678;0.682	B;B;B	0.39339	0.236;0.186;0.297	T	0.77930	-0.2403	10	0.87932	D	0	.	18.0453	0.89330	0.0:0.0:1.0:0.0	.	351;432;432	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	H	432;351;432;432;432	ENSP00000395122:R432H;ENSP00000393399:R351H;ENSP00000416787:R432H;ENSP00000315835:R432H	ENSP00000315835:R432H	R	+	2	0	GALNT11	151445236	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	9.577000	0.98196	2.684000	0.91462	0.561000	0.74099	CGT	GALNT11	-	NULL		0.373	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	G	NM_022087		151814303	+1	no_errors	ENST00000320311	ensembl	human	known	70_37	missense	SNP	1.000	A
GFRA3	2676	genome.wustl.edu	37	5	137589844	137589844	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:137589844C>T	ENST00000274721.3	-	5	1037	c.791G>A	c.(790-792)cGc>cAc	p.R264H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R233H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	264					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATCCACCAGGCGTGATCTGGA	0.473																																																	0													112.0	109.0	110.0					5																	137589844		2203	4300	6503	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.791G>A	5.37:g.137589844C>T	ENSP00000274721:p.Arg264His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.R264H	ENST00000274721.3	37	c.791	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208623	0.79240	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64085	-0.08;-0.08	4.36	4.36	0.52297	GDNF/GAS1 (2);	0.058175	0.64402	D	0.000003	T	0.73690	0.3619	L	0.59436	1.845	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74375	-0.3686	10	0.49607	T	0.09	-31.5761	12.2504	0.54595	0.0:1.0:0.0:0.0	.	233;264	O60609-2;O60609	.;GFRA3_HUMAN	H	264;233	ENSP00000274721:R264H;ENSP00000367613:R233H	ENSP00000274721:R264H	R	-	2	0	GFRA3	137617743	1.000000	0.71417	0.982000	0.44146	0.891000	0.51852	3.380000	0.52448	2.245000	0.73994	0.650000	0.86243	CGC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.473	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	C	NM_001496		137589844	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	1.000	T
HDAC6	10013	genome.wustl.edu	37	X	48681793	48681793	+	Missense_Mutation	SNP	C	C	T	rs375164434		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:48681793C>T	ENST00000334136.5	+	25	3162	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L	HDAC6_ENST00000444343.2_Missense_Mutation_p.S1009L|HDAC6_ENST00000376619.2_Missense_Mutation_p.S995L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	995					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CAGACCACCTCGGAGGCAGCC	0.632																																					Pancreas(112;205 1675 2305 8976 15959)												0								C	LEU/SER	0,3831		0,0,1632,567	23.0	24.0	23.0		2984	3.4	0.0	X		23	1,6724		0,1,2426,1871	no	missense	HDAC6	NM_006044.2	145	0,1,4058,2438	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging	995/1216	48681793	1,10555	2199	4298	6497	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2984C>T	X.37:g.48681793C>T	ENSP00000334061:p.Ser995Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.S1009L	ENST00000334136.5	37	c.3026	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397539	0.62177	0.0	1.49E-4	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.63417	-0.04;-0.03;-0.03	3.41	3.41	0.39046	.	2.131640	0.03620	U	0.236243	T	0.48892	0.1525	N	0.19112	0.55	0.09310	N	0.999994	P;D;P;P	0.62365	0.614;0.991;0.949;0.614	B;B;B;B	0.43889	0.144;0.435;0.435;0.144	T	0.43814	-0.9368	10	0.27082	T	0.32	.	6.0041	0.19537	0.0:0.8512:0.0:0.1488	.	985;358;643;995	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	L	1009;995;995	ENSP00000398566:S1009L;ENSP00000334061:S995L;ENSP00000365804:S995L	ENSP00000334061:S995L	S	+	2	0	HDAC6	48566737	0.330000	0.24705	0.019000	0.16419	0.933000	0.57130	0.569000	0.23638	1.682000	0.51000	0.600000	0.82982	TCG	HDAC6	-	NULL		0.632	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48681793	+1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	0.011	T
HDAC9	9734	genome.wustl.edu	37	7	18868819	18868819	+	Silent	SNP	C	C	T	rs371902064		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:18868819C>T	ENST00000432645.2	+	17	2349	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	HDAC9_ENST00000401921.1_Silent_p.H742H|HDAC9_ENST00000406451.4_Silent_p.H783H|HDAC9_ENST00000441542.2_Silent_p.H786H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	783	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGCCATCACGCTGAAGAAT	0.527																																																	0								C	,,	0,3972		0,0,1986	138.0	132.0	134.0		2349,2349,2358	-8.1	0.7	7		134	6,8302		0,6,4148	no	coding-synonymous,coding-synonymous,coding-synonymous	HDAC9	NM_058176.2,NM_178423.1,NM_178425.2	,,	0,6,6134	TT,TC,CC		0.0722,0.0,0.0489	,,	783/1012,783/1067,786/1070	18868819	6,12274	1986	4154	6140	SO:0001819	synonymous_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2349C>T	7.37:g.18868819C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.H786	ENST00000432645.2	37	c.2358	CCDS47555.1	7																																																																																			HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	C			18868819	+1	no_errors	ENST00000441542	ensembl	human	known	70_37	silent	SNP	0.743	T
HSD17B6	8630	genome.wustl.edu	37	12	57167790	57167790	+	Nonsense_Mutation	SNP	C	C	T	rs377658371		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:57167790C>T	ENST00000554643.1	+	3	503	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.R52*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.R52*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	52					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GCTGGATGCACGAGGCTTGAG	0.617																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	55.0	55.0		154	2.1	1.0	12		55	0,8600		0,0,4300	no	stop-gained	HSD17B6	NM_003725.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		52/318	57167790	1,13005	2203	4300	6503	SO:0001587	stop_gained	8630			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.154C>T	12.37:g.57167790C>T	ENSP00000451406:p.Arg52*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43275	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R52*	ENST00000554643.1	37	c.154	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231020	0.58777	2.27E-4	0.0	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	.	.	.	5.08	2.09	0.27110	.	0.133227	0.32401	N	0.006141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0433	0.30534	0.2981:0.6249:0.0:0.077	.	.	.	.	X	52	.	ENSP00000318631:R52X	R	+	1	2	HSD17B6	55454057	0.006000	0.16342	0.963000	0.40424	0.163000	0.22366	1.248000	0.32827	0.335000	0.23614	0.655000	0.94253	CGA	HSD17B6	-	pfam_DH_sc/Rdtase_SDR		0.617	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	HGNC	protein_coding	OTTHUMT00000410714.1	C	NM_003725		57167790	+1	no_errors	ENST00000322165	ensembl	human	known	70_37	nonsense	SNP	0.198	T
IFNGR1	3459	genome.wustl.edu	37	6	137519504	137519505	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:137519504_137519505insCT	ENST00000367739.4	-	7	1254_1255	c.1133_1134insAG	c.(1132-1134)agtfs	p.S378fs	IFNGR1_ENST00000543628.1_Frame_Shift_Ins_p.S350fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	378					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AAGGTGAAGAACTCTCTCTCTC	0.431																																																	0																																										SO:0001589	frameshift_variant	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133dupAG	6.37:g.137519513_137519514dupCT	ENSP00000356713:p.Ser378fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFT7|E1P587|Q53Y96	Frame_Shift_Ins	INS	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S378fs	ENST00000367739.4	37	c.1134_1133	CCDS5185.1	6																																																																																			IFNGR1	-	NULL		0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	-			137519505	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	frame_shift_ins	INS	0.036:0.000	CT
IFT43	112752	genome.wustl.edu	37	14	76549851	76549851	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:76549851G>T	ENST00000314067.6	+	9	592	c.558G>T	c.(556-558)gaG>gaT	p.E186D	IFT43_ENST00000238628.6_Missense_Mutation_p.E191D	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	186					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCCTCAGAGGTCCTCACTG	0.577																																																	0													80.0	74.0	76.0					14																	76549851		2203	4300	6503	SO:0001583	missense	112752			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.558G>T	14.37:g.76549851G>T	ENSP00000324177:p.Glu186Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	NULL	p.E191D	ENST00000314067.6	37	c.573	CCDS41973.1	14	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956018	0.53293	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	T;T	0.54866	0.55;0.55	5.63	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.81239	2.535	0.47441	D	0.999422	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.68542	-0.5381	10	0.49607	T	0.09	-20.6333	8.3737	0.32430	0.3073:0.0:0.6927:0.0	.	186;191	Q96FT9;Q96FT9-2	IFT43_HUMAN;.	D	186;191	ENSP00000324177:E186D;ENSP00000238628:E191D	ENSP00000238628:E191D	E	+	3	2	IFT43	75619604	1.000000	0.71417	0.983000	0.44433	0.117000	0.20001	3.808000	0.55598	0.697000	0.31718	-0.136000	0.14681	GAG	IFT43	-	NULL		0.577	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT43	HGNC	protein_coding		G	NM_052873		76549851	+1	no_errors	ENST00000238628	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGB4	3691	genome.wustl.edu	37	17	73752597	73752597	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr17:73752597G>A	ENST00000200181.3	+	36	4983	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	ITGB4_ENST00000579662.1_Missense_Mutation_p.R1529H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1582H|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1529H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1582H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1599	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACGTGTTCCGCGTGCGGGCC	0.652																																																	0													101.0	104.0	103.0					17																	73752597		2203	4300	6503	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4796G>A	17.37:g.73752597G>A	ENSP00000200181:p.Arg1599His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.R1599H	ENST00000200181.3	37	c.4796	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353569	0.41700	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.60920	0.15;0.15;0.15	5.04	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143555	0.46758	N	0.000271	T	0.73218	0.3559	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72075	0.959;0.968;0.976	T	0.75439	-0.3317	10	0.87932	D	0	.	8.6524	0.34042	0.2253:0.0:0.7747:0.0	.	1582;1529;1599	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1599;1582;1582	ENSP00000200181:R1599H;ENSP00000344079:R1582H;ENSP00000400217:R1582H	ENSP00000200181:R1599H	R	+	2	0	ITGB4	71264192	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	3.138000	0.50570	1.260000	0.44134	0.455000	0.32223	CGC	ITGB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G			73752597	+1	no_errors	ENST00000200181	ensembl	human	known	70_37	missense	SNP	0.986	A
KCNA1	3736	genome.wustl.edu	37	12	5020582	5020582	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:5020582C>T	ENST00000382545.3	+	2	1145	c.38C>T	c.(37-39)tCg>tTg	p.S13L	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)	13					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)	GACGAGGCTTCGGCCGCCCCG	0.711																																																	0													17.0	20.0	19.0					12																	5020582		2187	4281	6468	SO:0001583	missense	3736			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.38C>T	12.37:g.5020582C>T	ENSP00000371985:p.Ser13Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	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.S13L	ENST00000382545.3	37	c.38	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182992	0.38511	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96136	-3.92	3.73	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	L	0.40543	1.245	0.58432	D	0.999997	B	0.12013	0.005	B	0.04013	0.001	D	0.88803	0.3286	10	0.26408	T	0.33	.	15.0445	0.71816	0.0:1.0:0.0:0.0	.	13	Q09470	KCNA1_HUMAN	L	13	ENSP00000371985:S13L	ENSP00000228858:S13L	S	+	2	0	KCNA1	4890843	0.737000	0.28175	0.953000	0.39169	0.994000	0.84299	5.743000	0.68655	2.093000	0.63338	0.555000	0.69702	TCG	KCNA1	-	NULL		0.711	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020582	+1	no_errors	ENST00000382545	ensembl	human	known	70_37	missense	SNP	0.953	T
KHDRBS3	10656	genome.wustl.edu	37	8	136659488	136659489	+	3'UTR	INS	-	-	AA	rs59580956|rs1128066|rs201645350|rs34118572	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr8:136659488_136659489insAA	ENST00000355849.5	+	0	1612_1613				KHDRBS3_ENST00000520981.1_3'UTR	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AACCTGGGCAGAAAAAAAAAAA	0.252																																																	0																																										SO:0001624	3_prime_UTR_variant	10656			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.*162->AA	8.37:g.136659497_136659498dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUL8|Q9UPA8	RNA	INS	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			KHDRBS3	-	-		0.252	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	-			136659489	+1	no_errors	ENST00000518728	ensembl	human	putative	70_37	rna	INS	1.000:1.000	AA
KIAA1024	23251	genome.wustl.edu	37	15	79760660	79760660	+	Silent	SNP	G	G	C			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:79760660G>C	ENST00000305428.3	+	4	2760	c.2685G>C	c.(2683-2685)ctG>ctC	p.L895L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	895						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TAGCTGCTCTGATCGCTGCTG	0.453																																																	0													76.0	67.0	70.0					15																	79760660		2196	4293	6489	SO:0001819	synonymous_variant	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2685G>C	15.37:g.79760660G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD43	Silent	SNP	pfam_UPF0258	p.L895	ENST00000305428.3	37	c.2685	CCDS32306.1	15																																																																																			KIAA1024	-	pfam_UPF0258		0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79760660	+1	no_errors	ENST00000305428	ensembl	human	known	70_37	silent	SNP	1.000	C
LAMA1	284217	genome.wustl.edu	37	18	6977743	6977743	+	Missense_Mutation	SNP	G	G	A	rs544116466		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr18:6977743G>A	ENST00000389658.3	-	44	6421	c.6328C>T	c.(6328-6330)Cgc>Tgc	p.R2110C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2110	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTTGTTTGCGGGCCTGGCTG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17570	0.0		0.0	False		,,,				2504	0.0																0													52.0	52.0	52.0					18																	6977743		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6328C>T	18.37:g.6977743G>A	ENSP00000374309:p.Arg2110Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2110C	ENST00000389658.3	37	c.6328	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762982	0.69763	.	.	ENSG00000101680	ENST00000389658	T	0.78924	-1.22	5.13	4.22	0.49857	Laminin II (1);	0.000000	0.64402	D	0.000004	D	0.88024	0.6326	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89694	0.3900	10	0.87932	D	0	.	14.8763	0.70496	0.0:0.0:0.8552:0.1448	.	2110	P25391	LAMA1_HUMAN	C	2110	ENSP00000374309:R2110C	ENSP00000374309:R2110C	R	-	1	0	LAMA1	6967743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.803000	0.55560	1.204000	0.43247	0.655000	0.94253	CGC	LAMA1	-	pfam_Laminin_II		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	G	NM_005559		6977743	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGAL	3683	genome.wustl.edu	37	16	30510320	30510320	+	Intron	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:30510320G>T	ENST00000356798.6	+	16	2012				ITGAL_ENST00000433423.2_Intron|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGGCTTTGCTGGCGGGAGCCC	0.498																																					NSCLC(110;1462 1641 3311 33990 49495)												0																																										SO:0001627	intron_variant	100506928				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1833-75G>T	16.37:g.30510320G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	RNA	SNP	-	NULL	ENST00000356798.6	37	NULL	CCDS32433.1	16																																																																																			RP11-297C4.1	-	-		0.498	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506928	Clone_based_vega_gene	protein_coding	OTTHUMT00000434508.2	G			30510320	-1	no_errors	ENST00000563751	ensembl	human	known	70_37	rna	SNP	0.000	T
PRDM11	56981	genome.wustl.edu	37	11	45234992	45234992	+	Intron	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:45234992G>T	ENST00000530656.1	+	6	656				PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11								methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGCCCTGATGCTGCTTCTTT	0.652																																					NSCLC(118;1511 1736 6472 36603 43224)												0																																										SO:0001627	intron_variant	101060179			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.657-6129G>T	11.37:g.45234992G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N9F1	Missense_Mutation	SNP	NULL	p.M119I	ENST00000530656.1	37	c.357		11																																																																																			AC103681.1	-	NULL		0.652	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	LOC101060179	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000389928.1	G	NM_020229		45234992	+1	no_errors	ENST00000399269	ensembl	human	known	70_37	missense	SNP	0.075	T
MAP2K1	5604	genome.wustl.edu	37	15	66727561	66727561	+	Missense_Mutation	SNP	G	G	T	rs151207265		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:66727561G>T	ENST00000307102.5	+	2	808	c.277G>T	c.(277-279)Gtc>Ttc	p.V93F		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTCTGGCCTGGTCATGGCCAG	0.507																																																	0													110.0	101.0	104.0					15																	66727561		2201	4299	6500	SO:0001583	missense	5604			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.277G>T	15.37:g.66727561G>T	ENSP00000302486:p.Val93Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V93F	ENST00000307102.5	37	c.277	CCDS10216.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.700420|3.700420	0.68501|0.68501	.|.	.|.	ENSG00000169032|ENSG00000169032	ENST00000425818|ENST00000307102	.|T	.|0.70749	.|-0.51	5.24|5.24	4.21|4.21	0.49690|0.49690	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.162164	.|0.53938	.|D	.|0.000054	T|T	0.51839|0.51839	0.1698|0.1698	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18166	.|0.026;0.004	.|B;B	.|0.28553	.|0.091;0.023	T|T	0.52200|0.52200	-0.8607|-0.8607	5|10	.|0.44086	.|T	.|0.13	-26.5542|-26.5542	3.7663|3.7663	0.08623|0.08623	0.3255:0.0:0.6745:0.0|0.3255:0.0:0.6745:0.0	.|.	.|71;93	.|B4DFY5;Q02750	.|.;MP2K1_HUMAN	V|F	32|93	.|ENSP00000302486:V93F	.|ENSP00000302486:V93F	G|V	+|+	2|1	0|0	MAP2K1|MAP2K1	64514615|64514615	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	7.552000|7.552000	0.82192|0.82192	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GGT|GTC	MAP2K1	-	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		0.507	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	G			66727561	+1	no_errors	ENST00000307102	ensembl	human	known	70_37	missense	SNP	1.000	T
MDGA1	266727	genome.wustl.edu	37	6	37605156	37605156	+	Silent	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:37605156C>T	ENST00000434837.3	-	17	4034	c.2856G>A	c.(2854-2856)gcG>gcA	p.A952A	MDGA1_ENST00000297153.7_Silent_p.A956A	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	952					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.A954A(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATCTCTGCAACGCCAAGAGGA	0.637																																																	1	Substitution - coding silent(1)	lung(1)											41.0	46.0	45.0					6																	37605156		2037	4177	6214	SO:0001819	synonymous_variant	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2856G>A	6.37:g.37605156C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A956	ENST00000434837.3	37	c.2868	CCDS47417.1	6																																																																																			MDGA1	-	NULL		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	C			37605156	-1	no_errors	ENST00000297153	ensembl	human	known	70_37	silent	SNP	0.855	T
MICALL2	79778	genome.wustl.edu	37	7	1484568	1484568	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr7:1484568C>T	ENST00000297508.7	-	6	1313	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	MICALL2_ENST00000405088.4_Missense_Mutation_p.G168R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	380	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGGGGGGCTCCCCCACCCTGG	0.721																																																	0													4.0	5.0	5.0					7																	1484568		1907	3871	5778	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1138G>A	7.37:g.1484568C>T	ENSP00000297508:p.Gly380Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.G380R	ENST00000297508.7	37	c.1138	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	C	9.253	1.041318	0.19669	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68025	2.6;-0.3	4.45	0.0572	0.14322	.	1.981660	0.03292	N	0.187767	T	0.44350	0.1289	N	0.14661	0.345	0.09310	N	1	P	0.35982	0.531	B	0.28139	0.086	T	0.35475	-0.9787	10	0.37606	T	0.19	.	4.1896	0.10414	0.1611:0.537:0.0:0.3019	.	380	Q8IY33	MILK2_HUMAN	R	168;380	ENSP00000385928:G168R;ENSP00000297508:G380R	ENSP00000297508:G380R	G	-	1	0	MICALL2	1451094	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.362000	0.20284	0.080000	0.16959	0.561000	0.74099	GGA	MICALL2	-	NULL		0.721	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1484568	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.000	T
MMP26	56547	genome.wustl.edu	37	11	5009511	5009511	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:5009511G>T	ENST00000380390.1	+	2	286	c.70G>T	c.(70-72)Gca>Tca	p.A24S	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.A24S			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	24					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GCCCCCTGCTGCAGACCATAA	0.483																																																	0													240.0	194.0	210.0					11																	5009511		2201	4298	6499	SO:0001583	missense	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.70G>T	11.37:g.5009511G>T	ENSP00000369753:p.Ala24Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.A24S	ENST00000380390.1	37	c.70	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259899	0.10239	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37915	1.17;1.17	3.3	-0.372	0.12520	.	1.898180	0.03041	N	0.153381	T	0.21921	0.0528	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.13656	-1.0501	10	0.17832	T	0.49	0.0011	5.7975	0.18396	0.6058:0.0:0.3942:0.0	.	24	Q9NRE1	MMP26_HUMAN	S	24	ENSP00000369753:A24S;ENSP00000300762:A24S	ENSP00000300762:A24S	A	+	1	0	MMP26	4966087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.106000	0.15354	0.038000	0.15604	-0.294000	0.09567	GCA	MMP26	-	superfamily_Peptidoglycan-bd-like		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	G	NM_021801		5009511	+1	no_errors	ENST00000300762	ensembl	human	known	70_37	missense	SNP	0.000	T
RPL3L	6123	genome.wustl.edu	37	16	1991208	1991208	+	IGR	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:1991208C>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Intron|MSRB1_ENST00000399753.2_Missense_Mutation_p.R85K|MSRB1_ENST00000564908.1_Intron|MSRB1_ENST00000489198.1_Intron	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GACTGGCTCTCTGCTCTCCCT	0.662																																																	0													19.0	19.0	19.0					16																	1991208		1913	4116	6029	SO:0001628	intergenic_variant	51734			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991208C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	p.R85K	ENST00000268661.7	37	c.254	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503765	0.26949	.	.	ENSG00000198736	ENST00000399753	T	0.77489	-1.1	3.14	-1.89	0.07689	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.46133	-0.9213	5	.	.	.	.	0.3029	0.00275	0.2152:0.3185:0.1942:0.2722	.	.	.	.	K	85	ENSP00000382657:R85K	.	R	-	2	0	SEPX1	1931209	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.995000	0.03712	-0.221000	0.09973	-0.263000	0.10527	AGA	MSRB1	-	NULL		0.662	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB1	HGNC	protein_coding	OTTHUMT00000250582.2	C	NM_005061		1991208	-1	no_errors	ENST00000399753	ensembl	human	putative	70_37	missense	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195488431	195488431	+	Silent	SNP	G	G	A	rs544362323		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr3:195488431G>A	ENST00000346145.4	-	14	1869	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	MUC4_ENST00000475231.1_Silent_p.D4794D|MUC4_ENST00000463781.3_Silent_p.D4846D|MUC4_ENST00000349607.4_Silent_p.D559D	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTGAAGTCGTCCTCTGGAT	0.622													.|||	1	0.000199681	0.0	0.0	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.001																0													115.0	116.0	116.0					3																	195488431		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1830C>T	3.37:g.195488431G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D4846	ENST00000346145.4	37	c.14538	CCDS3310.1	3																																																																																			MUC4	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195488431	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.913	A
MYO16	23026	genome.wustl.edu	37	13	109779887	109779887	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr13:109779887C>T	ENST00000357550.2	+	30	4015	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V	MYO16_ENST00000457511.2_Missense_Mutation_p.A837V|MYO16_ENST00000356711.2_Missense_Mutation_p.A1325V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCAGGGAAGCGGCCAACGAA	0.682																																																	0													17.0	20.0	19.0					13																	109779887		2199	4295	6494	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3974C>T	13.37:g.109779887C>T	ENSP00000350160:p.Ala1325Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1325V	ENST00000357550.2	37	c.3974	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159366	0.21454	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.46063	0.88;0.88;0.88	5.29	5.29	0.74685	.	0.438288	0.16456	U	0.213610	T	0.32823	0.0842	L	0.40543	1.245	0.09310	N	1	B;B	0.31680	0.335;0.226	B;B	0.28465	0.09;0.017	T	0.16129	-1.0413	9	.	.	.	.	11.4182	0.49965	0.0:0.9183:0.0:0.0817	.	837;1325	F8W883;Q9Y6X6	.;MYO16_HUMAN	V	1325;1325;837	ENSP00000349145:A1325V;ENSP00000350160:A1325V;ENSP00000401633:A837V	.	A	+	2	0	MYO16	108577888	0.039000	0.19947	0.005000	0.12908	0.046000	0.14306	3.221000	0.51215	2.473000	0.83533	0.563000	0.77884	GCG	MYO16	-	NULL		0.682	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109779887	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	0.007	T
MYT1L	23040	genome.wustl.edu	37	2	1820041	1820041	+	Intron	SNP	C	C	T	rs138326630|rs199784090	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:1820041C>T	ENST00000399161.2	-	22	3828				MYT1L_ENST00000407844.1_Intron|MYT1L_ENST00000428368.2_Intron|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAAGGCAAGCGATCATTCTG	0.478																																																	0																																										SO:0001627	intron_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3081-7102G>A	2.37:g.1820041C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.478	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1820041	-1	no_errors	ENST00000471668	ensembl	human	known	70_37	rna	SNP	0.002	T
NARS2	79731	genome.wustl.edu	37	11	78277287	78277287	+	Missense_Mutation	SNP	G	G	T	rs199705006		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:78277287G>T	ENST00000281038.5	-	4	779	c.404C>A	c.(403-405)cCt>cAt	p.P135H	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	135					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ATACTCCAGAGGATGCCTCTC	0.388																																																	0													75.0	74.0	74.0					11																	78277287		2200	4291	6491	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.404C>A	11.37:g.78277287G>T	ENSP00000281038:p.Pro135His	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.P135H	ENST00000281038.5	37	c.404	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244329	0.59103	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.77750	-1.12;0.95	5.13	5.13	0.70059	.	0.241190	0.41823	D	0.000802	D	0.82407	0.5030	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.83890	0.0284	10	0.87932	D	0	-13.5401	13.4724	0.61288	0.0:0.1574:0.8426:0.0	.	135	Q96I59	SYNM_HUMAN	H	135	ENSP00000281038:P135H;ENSP00000432240:P135H	ENSP00000281038:P135H	P	-	2	0	NARS2	77954935	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.221000	0.51215	2.547000	0.85894	0.655000	0.94253	CCT	NARS2	-	tigrfam_Asn-tRNA-ligase_IIb		0.388	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	G	NM_024678		78277287	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	1.000	T
NCL	4691	genome.wustl.edu	37	2	232323043	232323043	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:232323043T>C	ENST00000322723.4	-	8	1463	c.1223A>G	c.(1222-1224)gAa>gGa	p.E408G	SNORD20_ENST00000384550.1_RNA|SNORD82_ENST00000365530.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	408	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCTTTCAATTCATCCTGAGT	0.383																																																	0													103.0	100.0	101.0					2																	232323043		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1223A>G	2.37:g.232323043T>C	ENSP00000318195:p.Glu408Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E408G	ENST00000322723.4	37	c.1223	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736596	0.89482	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000356936	T;T	0.76839	2.14;-1.05	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092890	0.64402	D	0.000001	D	0.84329	0.5448	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	D	0.84937	0.0863	10	0.52906	T	0.07	-18.3438	14.1198	0.65180	0.0:0.0:0.0:1.0	.	408	P19338	NUCL_HUMAN	G	408;300;9	ENSP00000318195:E408G;ENSP00000349410:E9G	ENSP00000318195:E408G	E	-	2	0	NCL	232031287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.448000	0.73469	2.268000	0.75426	0.456000	0.33151	GAA	NCL	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.383	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	T	NM_005381		232323043	-1	no_errors	ENST00000322723	ensembl	human	known	70_37	missense	SNP	0.997	C
NR2F1	7025	genome.wustl.edu	37	5	92929675	92929675	+	3'UTR	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:92929675G>A	ENST00000327111.3	+	0	3086				NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1						cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGAGGGAGGAGGGCCGAGACA	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	7025			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.*127G>A	5.37:g.92929675G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000327111.3	37	NULL	CCDS4068.1	5																																																																																			NR2F1	-	-		0.607	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F1	HGNC	protein_coding	OTTHUMT00000239293.2	G	NM_005654		92929675	+1	no_errors	ENST00000506162	ensembl	human	putative	70_37	rna	SNP	0.026	A
OR8D1	283159	genome.wustl.edu	37	11	124179884	124179884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:124179884delA	ENST00000357821.2	-	1	849	c.779delT	c.(778-780)ttcfs	p.F260fs		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGGGGCTTGAAATACATGAA	0.507																																																	0													95.0	91.0	92.0					11																	124179884		2201	4299	6500	SO:0001589	frameshift_variant	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.779delT	11.37:g.124179884delA	ENSP00000350474:p.Phe260fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F260fs	ENST00000357821.2	37	c.779	CCDS31706.1	11																																																																																			OR8D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	A	NM_001002917		124179884	-1	no_errors	ENST00000357821	ensembl	human	known	70_37	frame_shift_del	DEL	0.008	-
PCDHA6	56142	genome.wustl.edu	37	5	140209165	140209165	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:140209165C>T	ENST00000529310.1	+	1	1603	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R497W|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																																	0													46.0	55.0	52.0					5																	140209165		2202	4293	6495	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1489C>T	5.37:g.140209165C>T	ENSP00000433378:p.Arg497Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R497W	ENST00000529310.1	37	c.1489	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426055	0.43020	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.52295	0.67;0.67	3.72	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.222920	0.20630	U	0.088606	T	0.59074	0.2167	M	0.62723	1.935	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.977;0.986;0.983	T	0.43766	-0.9371	10	0.87932	D	0	.	5.9617	0.19303	0.3319:0.4934:0.1747:0.0	.	497;497;497	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	497	ENSP00000433378:R497W;ENSP00000434113:R497W	ENSP00000434113:R497W	R	+	1	2	PCDHA6	140189349	0.986000	0.35501	1.000000	0.80357	0.739000	0.42172	0.473000	0.22132	2.061000	0.61500	0.313000	0.20887	CGG	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209165	+1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.192	T
PKD1	5310	genome.wustl.edu	37	16	2158331	2158331	+	Silent	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:2158331G>A	ENST00000262304.4	-	15	7045	c.6837C>T	c.(6835-6837)agC>agT	p.S2279S	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.S2279S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2279	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTAGGACTCGCTCCCATCCA	0.657																																																	0													48.0	48.0	48.0					16																	2158331		2192	4289	6481	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6837C>T	16.37:g.2158331G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2279	ENST00000262304.4	37	c.6837	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2158331	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.946	A
PRR3	80742	genome.wustl.edu	37	6	30531428	30531428	+	3'UTR	DEL	T	T	-	rs563052704	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:30531428delT	ENST00000376560.3	+	0	2182				PRR3_ENST00000376557.3_3'UTR|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GAGAATGAGGttttttttttt	0.378													|||unknown(HR)	449	0.0896565	0.1483	0.0807	5008	,	,		17388	0.0665		0.0865	False		,,,				2504	0.044																0																																										SO:0001624	3_prime_UTR_variant	80742			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.*1156T>-	6.37:g.30531428delT		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4H4|Q5RJB5|Q5STN6	RNA	DEL	-	NULL	ENST00000376560.3	37	NULL	CCDS43440.1	6																																																																																			PRR3	-	-		0.378	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	T	NM_025263		30531428	+1	no_errors	ENST00000481741	ensembl	human	known	70_37	rna	DEL	0.005	-
PRUNE2	158471	genome.wustl.edu	37	9	79324401	79324401	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr9:79324401C>T	ENST00000376718.3	-	8	2912	c.2789G>A	c.(2788-2790)gGg>gAg	p.G930E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.G571E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	930					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACATCTGACCCTCCTTTCTT	0.413																																																	0													243.0	226.0	231.0					9																	79324401		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2789G>A	9.37:g.79324401C>T	ENSP00000365908:p.Gly930Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G571E	ENST00000376718.3	37	c.1712	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016116	0.19355	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.46819	0.86;0.87	5.16	3.14	0.36123	.	0.406531	0.20989	N	0.082072	T	0.32971	0.0847	L	0.29908	0.895	0.36363	D	0.860801	P	0.50272	0.933	B	0.41440	0.357	T	0.40553	-0.9557	10	0.51188	T	0.08	-5.5554	7.8509	0.29453	0.3248:0.5457:0.1295:0.0	.	930	Q8WUY3	PRUN2_HUMAN	E	930;571;929	ENSP00000365908:G930E;ENSP00000397425:G571E	ENSP00000365908:G930E	G	-	2	0	PRUNE2	78514221	0.350000	0.24878	0.258000	0.24420	0.277000	0.26821	1.551000	0.36233	1.480000	0.48289	-0.305000	0.09177	GGG	PRUNE2	-	NULL		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79324401	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.483	T
RYR3	6263	genome.wustl.edu	37	15	33955938	33955938	+	Splice_Site	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:33955938G>T	ENST00000389232.4	+	36	5689	c.5619G>T	c.(5617-5619)caG>caT	p.Q1873H	RYR3_ENST00000415757.3_Splice_Site_p.Q1873H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1873	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACAGGAGCAGGTGAGGGTCC	0.562																																																	0													21.0	21.0	21.0					15																	33955938		1947	4127	6074	SO:0001630	splice_region_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5619+1G>T	15.37:g.33955938G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Q1873H	ENST00000389232.4	37	c.5619	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880138	0.91740	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73469	-0.75;-0.75	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	M	0.84773	2.715	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.85130	0.997;0.947	D	0.89518	0.3776	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	1873;1873	Q15413-2;Q15413	.;RYR3_HUMAN	H	1873	ENSP00000373884:Q1873H;ENSP00000399610:Q1873H	ENSP00000354735:Q1873H	Q	+	3	2	RYR3	31743230	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.595000	0.98260	2.729000	0.93468	0.561000	0.74099	CAG	RYR3	-	NULL		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G		Missense_Mutation	33955938	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC25A5	292	genome.wustl.edu	37	X	118604982	118604982	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:118604982T>G	ENST00000317881.8	+	4	974	c.858T>G	c.(856-858)ttT>ttG	p.F286L	SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	286					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGTGCTTTTGTGCTTGTCT	0.428																																																	0													87.0	64.0	72.0					X																	118604982		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.858T>G	X.37:g.118604982T>G	ENSP00000360671:p.Phe286Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.F286L	ENST00000317881.8	37	c.858	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	T	2.376	-0.343173	0.05243	.	.	ENSG00000005022	ENST00000317881	T	0.75589	-0.95	5.29	4.12	0.48240	Mitochondrial carrier domain (2);	0.103174	0.64402	D	0.000002	T	0.37625	0.1010	N	0.00879	-1.12	0.58432	D	0.999994	B	0.06786	0.001	B	0.10450	0.005	T	0.40942	-0.9536	10	0.02654	T	1	.	8.6883	0.34251	0.0:0.1642:0.0:0.8358	.	286	P05141	ADT2_HUMAN	L	286	ENSP00000360671:F286L	ENSP00000360671:F286L	F	+	3	2	SLC25A5	118489010	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.297000	0.33400	0.751000	0.32900	0.481000	0.45027	TTT	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.428	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	T	NM_001152		118604982	+1	no_errors	ENST00000317881	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC7A9	11136	genome.wustl.edu	37	19	33355560	33355560	+	Silent	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:33355560C>T	ENST00000023064.4	-	3	401	c.210G>A	c.(208-210)gcG>gcA	p.A70A	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Silent_p.A70A|SLC7A9_ENST00000587772.1_Silent_p.A70A	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	70			A -> V (in CSNU; mild loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCCGCAAGCCGCCCATATGA	0.627																																					GBM(181;1335 2108 9644 44178 46689)												0													89.0	87.0	88.0					19																	33355560		2203	4300	6503	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.210G>A	19.37:g.33355560C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.A70	ENST00000023064.4	37	c.210	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.627	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	C			33355560	-1	no_errors	ENST00000023064	ensembl	human	known	70_37	silent	SNP	0.000	T
SNX1	6642	genome.wustl.edu	37	15	64426947	64426947	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr15:64426947C>T	ENST00000559844.1	+	12	1320	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	SNX1_ENST00000261889.5_Missense_Mutation_p.R436W|SNX1_ENST00000560829.1_Missense_Mutation_p.R218W|SNX1_ENST00000353874.4_Intron|SNX1_ENST00000561026.1_Missense_Mutation_p.R371W			Q13596	SNX1_HUMAN	sorting nexin 1	436	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCGAGGCTCGGCTGCTGTG	0.642																																																	0													31.0	33.0	32.0					15																	64426947		2198	4297	6495	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1306C>T	15.37:g.64426947C>T	ENSP00000453785:p.Arg436Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R436W	ENST00000559844.1	37	c.1306	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640554	0.87859	.	.	ENSG00000028528	ENST00000380285;ENST00000261889	.	.	.	5.92	3.92	0.45320	Vps5 C-terminal (1);	0.044608	0.85682	D	0.000000	T	0.66519	0.2797	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.73708	0.981;0.967;0.967;0.967;0.968;0.967	T	0.68074	-0.5505	9	0.87932	D	0	-5.0513	6.7865	0.23675	0.3262:0.5838:0.0:0.09	.	436;346;436;436;371;436	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;Q13596	.;.;.;.;.;SNX1_HUMAN	W	436;371	.	ENSP00000261889:R371W	R	+	1	2	SNX1	62214000	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.708000	0.54845	1.518000	0.48934	-0.136000	0.14681	CGG	SNX1	-	pfam_Vps5_C		0.642	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	C	NM_003099		64426947	+1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	T
SPIRE1	56907	genome.wustl.edu	37	18	12463427	12463427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr18:12463427G>A	ENST00000409402.4	-	12	1828	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	SPIRE1_ENST00000383356.2_Nonsense_Mutation_p.R348*|SPIRE1_ENST00000453447.2_Nonsense_Mutation_p.R387*|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Nonsense_Mutation_p.R310*|SPIRE1_ENST00000410092.3_Nonsense_Mutation_p.R507*	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						ATGGAATGTCGTCTCTGGGGT	0.478																																																	0													121.0	111.0	114.0					18																	12463427		2203	4300	6503	SO:0001587	stop_gained	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1561C>T	18.37:g.12463427G>A	ENSP00000387266:p.Arg521*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.R521*	ENST00000409402.4	37	c.1561	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.323985	0.98759	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	.	.	.	5.41	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.561	14.6586	0.68852	0.0:0.0:0.7343:0.2657	.	.	.	.	X	387;521;507;310;348	.	ENSP00000309661:R310X	R	-	1	2	SPIRE1	12453427	1.000000	0.71417	0.943000	0.38184	0.970000	0.65996	1.931000	0.40134	0.723000	0.32274	-0.291000	0.09656	CGA	SPIRE1	-	NULL		0.478	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	G	XM_290818		12463427	-1	no_errors	ENST00000409402	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TCOF1	6949	genome.wustl.edu	37	5	149754216	149754216	+	Frame_Shift_Del	DEL	G	G	-	rs112039991	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr5:149754216delG	ENST00000504761.2	+	9	1120	c.1120delG	c.(1120-1122)gccfs	p.A374fs	TCOF1_ENST00000513346.1_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000323668.7_Frame_Shift_Del_p.A297fs|TCOF1_ENST00000394269.3_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000377797.3_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000445265.2_Frame_Shift_Del_p.A297fs|TCOF1_ENST00000439160.2_Frame_Shift_Del_p.A374fs|TCOF1_ENST00000451292.1_Frame_Shift_Del_p.A374fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	374					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCGGAGCTGCCTCAGCCCC	0.642																																																	0													45.0	52.0	49.0					5																	149754216		2202	4297	6499	SO:0001589	frameshift_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1120delG	5.37:g.149754216delG	ENSP00000421655:p.Ala374fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Del	DEL	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A374fs	ENST00000504761.2	37	c.1120	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle		0.642	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149754216	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	frame_shift_del	DEL	0.462	-
TENM4	26011	genome.wustl.edu	37	11	78574141	78574141	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr11:78574141G>A	ENST00000278550.7	-	10	1583	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	374					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CCCCTCCATCGGCTGCAGGTG	0.567																																																	0													52.0	54.0	54.0					11																	78574141		692	1591	2283	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1121C>T	11.37:g.78574141G>A	ENSP00000278550:p.Pro374Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P374L	ENST00000278550.7	37	c.1121	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996230	0.93167	.	.	ENSG00000149256	ENST00000278550	D	0.89939	-2.59	5.54	5.54	0.83059	.	0.126578	0.53938	D	0.000056	D	0.93471	0.7917	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92101	0.5688	9	.	.	.	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	374	Q6N022	TEN4_HUMAN	L	374	ENSP00000278550:P374L	.	P	-	2	0	ODZ4	78251789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.017000	0.93651	2.884000	0.98904	0.655000	0.94253	CCG	TENM4	-	NULL		0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78574141	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMM23	100287932	genome.wustl.edu	37	10	51623133	51623133	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr10:51623133G>A	ENST00000260867.4	-	1	205	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	TIMM23_ENST00000374064.3_Missense_Mutation_p.H28Y|TIMM23_ENST00000374065.3_Missense_Mutation_p.H28Y	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	28					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						AAATCCGCGTGCGAGTAACCT	0.572																																																	0													13.0	12.0	12.0					10																	51623133		2194	4265	6459	SO:0001583	missense	100287932			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.82C>T	10.37:g.51623133G>A	ENSP00000260867:p.His28Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim23	p.H28Y	ENST00000260867.4	37	c.82	CCDS7238.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438090|2.438090	0.43326|0.43326	.|.	.|.	ENSG00000138297|ENSG00000138297	ENST00000444743|ENST00000260867;ENST00000374064;ENST00000374065	.|.	.|.	.|.	4.5|4.5	1.25|1.25	0.21368|0.21368	.|.	.|0.159926	.|0.53938	.|D	.|0.000043	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.29908|0.29908	0.895|0.895	0.32916|0.32916	D|D	0.515112|0.515112	.|P;P	.|0.43607	.|0.812;0.666	.|B;B	.|0.39379	.|0.298;0.139	T|T	0.33727|0.33727	-0.9857|-0.9857	5|9	.|0.42905	.|T	.|0.14	-7.9352|-7.9352	7.0199|7.0199	0.24908|0.24908	0.087:0.0:0.6047:0.3082|0.087:0.0:0.6047:0.3082	.|.	.|28;28	.|B1APJ0;O14925	.|.;TIM23_HUMAN	V|Y	24|28	.|.	.|ENSP00000260867:H28Y	A|H	-|-	2|1	0|0	TIMM23|TIMM23	51293139|51293139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.625000|0.625000	0.37756|0.37756	2.766000|2.766000	0.47629|0.47629	0.569000|0.569000	0.29329|0.29329	-0.216000|-0.216000	0.12614|0.12614	GCA|CAC	TIMM23	-	NULL		0.572	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM23	HGNC	protein_coding	OTTHUMT00000048040.1	G	NM_006327.2		51623133	-1	no_errors	ENST00000260867	ensembl	human	known	70_37	missense	SNP	1.000	A
TANGO6	79613	genome.wustl.edu	37	16	69074262	69074262	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr16:69074262C>T	ENST00000261778.1	+	17	3058	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1016						integral component of membrane (GO:0016021)											AGTTCAAGTACGCAGAGCTGC	0.493																																																	0													91.0	91.0	91.0					16																	69074262		2038	4203	6241	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3046C>T	16.37:g.69074262C>T	ENSP00000261778:p.Arg1016Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.R1016C	ENST00000261778.1	37	c.3046	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605009	0.87157	.	.	ENSG00000103047	ENST00000261778	T	0.72282	-0.64	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.053362	0.64402	D	0.000001	D	0.85155	0.5632	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86718	0.1940	10	0.87932	D	0	-11.1344	15.5802	0.76428	0.0:1.0:0.0:0.0	.	1016	Q9C0B7	TMCO7_HUMAN	C	1016	ENSP00000261778:R1016C	ENSP00000261778:R1016C	R	+	1	0	TMCO7	67631763	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.048000	0.57390	2.749000	0.94314	0.643000	0.83706	CGC	TMCO7	-	superfamily_ARM-type_fold		0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2		69074262	+1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129189973	129189973	+	Silent	SNP	C	C	T	rs561705907		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr12:129189973C>T	ENST00000435159.2	+	9	2460	c.2460C>T	c.(2458-2460)caC>caT	p.H820H	TMEM132C_ENST00000537538.1_Silent_p.H205H|TMEM132C_ENST00000315208.8_Silent_p.H436H	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	820						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TCAAGAACCACGCCAGCGACC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17110	0.0		0.0	False		,,,				2504	0.0																0													21.0	28.0	26.0					12																	129189973		692	1591	2283	SO:0001819	synonymous_variant	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2460C>T	12.37:g.129189973C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Silent	SNP	NULL	p.H820	ENST00000435159.2	37	c.2460		12																																																																																			TMEM132C	-	NULL		0.637	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		C	XM_044062		129189973	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	silent	SNP	0.996	T
TNFAIP3	7128	genome.wustl.edu	37	6	138192623	138192623	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr6:138192623C>G	ENST00000237289.4	+	2	325	c.259C>G	c.(259-261)Cga>Gga	p.R87G		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	87	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAACTGGTGTCGAGAAGTCCG	0.512			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											156.0	145.0	149.0					6																	138192623		2203	4300	6503	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.259C>G	6.37:g.138192623C>G	ENSP00000237289:p.Arg87Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R87G	ENST00000237289.4	37	c.259	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373247	0.61624	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.32023	1.47;1.83	6.08	6.08	0.98989	.	0.064020	0.64402	D	0.000007	T	0.15046	0.0363	L	0.34521	1.04	0.53688	D	0.999972	B	0.22604	0.072	B	0.11329	0.006	T	0.02070	-1.1219	10	0.72032	D	0.01	-7.7549	14.6404	0.68720	0.1539:0.8461:0.0:0.0	.	87	P21580	TNAP3_HUMAN	G	87	ENSP00000401562:R87G;ENSP00000237289:R87G	ENSP00000237289:R87G	R	+	1	2	TNFAIP3	138234316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.786000	0.47790	2.890000	0.99128	0.655000	0.94253	CGA	TNFAIP3	-	NULL		0.512	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	C			138192623	+1	no_errors	ENST00000237289	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM9	114088	genome.wustl.edu	37	14	51561129	51561129	+	Missense_Mutation	SNP	C	C	T	rs34137743		TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr14:51561129C>T	ENST00000298355.3	-	1	1650	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TRIM9_ENST00000360392.4_Missense_Mutation_p.E177K|TRIM9_ENST00000338969.5_Missense_Mutation_p.E177K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	177					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGGTGGCTTCCTTGGGCGCC	0.652																																																	0													29.0	28.0	29.0					14																	51561129		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.529G>A	14.37:g.51561129C>T	ENSP00000298355:p.Glu177Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E177K	ENST00000298355.3	37	c.529	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284635	0.59867	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71698	-0.48;-0.59;0.45	4.96	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (2);	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	L	0.38692	1.165	0.52501	D	0.999956	D;P;B	0.54772	0.968;0.941;0.007	P;P;B	0.54889	0.763;0.7;0.01	T	0.74127	-0.3765	10	0.48119	T	0.1	.	15.6895	0.77439	0.0:1.0:0.0:0.0	.	177;177;177	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	K	177	ENSP00000298355:E177K;ENSP00000342970:E177K;ENSP00000353561:E177K	ENSP00000298355:E177K	E	-	1	0	TRIM9	50630879	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.174000	0.50847	2.291000	0.77112	0.561000	0.74099	GAA	TRIM9	-	superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box		0.652	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51561129	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	T
USP29	57663	genome.wustl.edu	37	19	57641624	57641624	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:57641624G>T	ENST00000254181.4	+	4	2035	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	USP29_ENST00000598197.1_Missense_Mutation_p.E527D	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	527	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATAACGAGCAAGTTTATA	0.413																																																	0													127.0	133.0	131.0					19																	57641624		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1581G>T	19.37:g.57641624G>T	ENSP00000254181:p.Glu527Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E527D	ENST00000254181.4	37	c.1581	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	5.725	0.318215	0.10845	.	.	ENSG00000131864	ENST00000254181	T	0.30182	1.54	2.52	0.199	0.15175	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.433100	0.05336	U	0.529317	T	0.17450	0.0419	N	0.11427	0.14	0.21105	N	0.999781	B	0.20887	0.049	B	0.18871	0.023	T	0.31223	-0.9951	10	0.72032	D	0.01	-2.6081	5.8973	0.18947	0.3295:0.0:0.6705:0.0	.	527	Q9HBJ7	UBP29_HUMAN	D	527	ENSP00000254181:E527D	ENSP00000254181:E527D	E	+	3	2	USP29	62333436	1.000000	0.71417	0.002000	0.10522	0.100000	0.18952	1.498000	0.35660	0.078000	0.16900	0.467000	0.42956	GAG	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641624	+1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.998	T
VSIG4	11326	genome.wustl.edu	37	X	65242304	65242304	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:65242304A>C	ENST00000374737.4	-	8	1109	c.1001T>G	c.(1000-1002)aTg>aGg	p.M334R	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.M240R	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	334					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCACCCTCATGGTTTCTCC	0.567																																																	0													59.0	42.0	47.0					X																	65242304		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1001T>G	X.37:g.65242304A>C	ENSP00000363869:p.Met334Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.M334R	ENST00000374737.4	37	c.1001	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	A	6.392	0.440465	0.12104	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.25414	1.8;2.22	4.51	-0.39	0.12450	.	0.845481	0.10185	N	0.705309	T	0.21307	0.0513	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.32620	0.378;0.261	B;B	0.34931	0.192;0.094	T	0.29088	-1.0023	10	0.59425	D	0.04	-1.622	3.9067	0.09185	0.4042:0.2269:0.3689:0.0	.	240;334	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	R	334;240	ENSP00000363869:M334R;ENSP00000394143:M240R	ENSP00000363869:M334R	M	-	2	0	VSIG4	65159029	0.001000	0.12720	0.005000	0.12908	0.028000	0.11728	-0.025000	0.12413	-0.046000	0.13446	0.417000	0.27973	ATG	VSIG4	-	NULL		0.567	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	A	NM_007268		65242304	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	missense	SNP	0.001	C
VSIG1	340547	genome.wustl.edu	37	X	107320504	107320504	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chrX:107320504G>A	ENST00000217957.5	+	7	1174	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	VSIG1_ENST00000415430.3_Missense_Mutation_p.E389K	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	353						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTGGAGCCAGAAACGCAGTC	0.567																																																	0													77.0	73.0	74.0					X																	107320504		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1057G>A	X.37:g.107320504G>A	ENSP00000217957:p.Glu353Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E389K	ENST00000217957.5	37	c.1165	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192225	0.38707	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.39997	1.05;1.05	3.86	-1.85	0.07784	.	2.146210	0.01911	N	0.039854	T	0.33673	0.0871	L	0.50333	1.59	0.09310	N	1	B;B	0.30068	0.267;0.267	B;B	0.25291	0.026;0.059	T	0.17684	-1.0361	10	0.07325	T	0.83	.	9.5861	0.39517	0.0:0.6017:0.244:0.1543	.	389;353	C9J4P2;Q86XK7	.;VSIG1_HUMAN	K	389;353	ENSP00000402219:E389K;ENSP00000217957:E353K	ENSP00000217957:E353K	E	+	1	0	VSIG1	107207160	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.013000	0.12678	-0.541000	0.06257	0.422000	0.28245	GAA	VSIG1	-	NULL		0.567	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320504	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.000	A
WNT2B	7482	genome.wustl.edu	37	1	113057560	113057560	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr1:113057560C>T	ENST00000369684.4	+	2	732	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_5'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R64W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	83					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCCGGCAGCGGCAGCTGTG	0.602																																																	0													93.0	86.0	88.0					1																	113057560		2203	4300	6503	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.247C>T	1.37:g.113057560C>T	ENSP00000358698:p.Arg83Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.R83W	ENST00000369684.4	37	c.247	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089922	0.76756	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.77620	-1.11;-1.11	5.3	5.3	0.74995	.	0.047258	0.85682	D	0.000000	D	0.89798	0.6819	H	0.95745	3.715	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92132	0.5713	10	0.87932	D	0	.	12.6901	0.56970	0.2738:0.7262:0.0:0.0	.	83;64	Q93097;Q93097-2	WNT2B_HUMAN;.	W	64;83	ENSP00000358700:R64W;ENSP00000358698:R83W	ENSP00000358698:R83W	R	+	1	2	WNT2B	112859083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.468000	0.35332	2.474000	0.83562	0.561000	0.74099	CGG	WNT2B	-	pfam_Wnt,smart_Wnt		0.602	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1	C	NM_004185		113057560	+1	no_errors	ENST00000369684	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF468	90333	genome.wustl.edu	37	19	53344188	53344188	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:53344188G>T	ENST00000595646.1	-	4	1479	c.1359C>A	c.(1357-1359)caC>caA	p.H453Q	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.H400Q|ZNF468_ENST00000396409.4_Missense_Mutation_p.H400Q			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GTTGTGCCAGGTGTGAATCCC	0.438																																																	0													127.0	134.0	131.0					19																	53344188		2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1359C>A	19.37:g.53344188G>T	ENSP00000470381:p.His453Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H453Q	ENST00000595646.1	37	c.1359	CCDS33094.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.218|7.218	0.596767|0.596767	0.13875|0.13875	.|.	.|.	ENSG00000204604|ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865	T;T|.	0.13196|.	2.61;2.61|.	1.92|1.92	-1.59|-1.59	0.08453|0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.15955|0.15955	0.0384|0.0384	N|N	0.11724|0.11724	0.165|0.165	0.09310|0.09310	N|N	1|1	B|.	0.26120|.	0.142|.	B|.	0.17433|.	0.018|.	T|T	0.20438|0.20438	-1.0275|-1.0275	9|6	0.17369|0.41790	T|T	0.5|0.15	.|.	0.5597|0.5597	0.00677|0.00677	0.4141:0.1807:0.2223:0.1828|0.4141:0.1807:0.2223:0.1828	.|.	453|.	Q5VIY5|.	ZN468_HUMAN|.	Q|N	453;400;400|201	ENSP00000379690:H400Q;ENSP00000445669:H400Q|.	ENSP00000243639:H453Q|ENSP00000377444:T201N	H|T	-|-	3|2	2|0	ZNF468|ZNF468	58036000|58036000	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.664000|0.664000	0.39144|0.39144	-1.866000|-1.866000	0.01647|0.01647	-0.244000|-0.244000	0.09639|0.09639	0.416000|0.416000	0.27883|0.27883	CAC|ACC	ZNF468	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	G	NM_001008801		53344188	-1	no_errors	ENST00000595646	ensembl	human	known	70_37	missense	SNP	0.003	T
ZNF638	27332	genome.wustl.edu	37	2	71645628	71645629	+	Intron	INS	-	-	T	rs578062675|rs72207075|rs201276792	byFrequency	TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr2:71645628_71645629insT	ENST00000409544.1	+	21	3891				ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Intron|ZNF638_ENST00000409407.1_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATTTTTAAGGTTTTTTTTTTT	0.267																																																	0																																										SO:0001627	intron_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3262-103->T	2.37:g.71645639_71645639dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	RNA	INS	-	NULL	ENST00000409544.1	37	NULL	CCDS1917.1	2																																																																																			ZNF638	-	-		0.267	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	NM_014497		71645629	+1	no_errors	ENST00000483421	ensembl	human	known	70_37	rna	INS	0.000:0.003	T
ZSCAN18	65982	genome.wustl.edu	37	19	58596127	58596127	+	Silent	SNP	C	C	T			TCGA-C5-A2M2-01A-21D-A18J-09	TCGA-C5-A2M2-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7afa937c-7f6b-4956-949f-a31742f80ccc	dacf14e9-c5e3-40ba-8ff7-50434efb1751	g.chr19:58596127C>T	ENST00000240727.6	-	7	1857	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	ZSCAN18_ENST00000600404.1_Silent_p.A542A|ZSCAN18_ENST00000421612.2_Silent_p.A350A|ZSCAN18_ENST00000601144.1_Silent_p.A486A	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	486					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTAGCCCCCGCCTGGGCTT	0.741																																																	0													7.0	8.0	8.0					19																	58596127		2093	4114	6207	SO:0001819	synonymous_variant	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1458G>A	19.37:g.58596127C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A542	ENST00000240727.6	37	c.1626	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL		0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	C	NM_023926		58596127	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	silent	SNP	0.000	T
