#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC10	89845	genome.wustl.edu	37	6	43409631	43409631	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:43409631G>C	ENST00000372530.4	+	9	2374	c.2159G>C	c.(2158-2160)gGg>gCg	p.G720A	ABCC10_ENST00000244533.3_Missense_Mutation_p.G692A	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	720	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	ACAGAGGTGGGGGAGAAGGGT	0.592																																						dbGAP											0													103.0	75.0	85.0					6																	43409631		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2159G>C	6.37:g.43409631G>C	ENSP00000361608:p.Gly720Ala	Somatic		WXS	Illumina GAIIx	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.G720A	ENST00000372530.4	37	c.2159	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.083523	0.94050	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.91945	-2.94;-2.94;-2.94	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.976;1.0	D	0.95710	0.8757	10	0.87932	D	0	-45.2535	17.1172	0.86692	0.0:0.0:1.0:0.0	.	692;720	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	A	276;720;692	ENSP00000361593:G276A;ENSP00000361608:G720A;ENSP00000244533:G692A	ENSP00000244533:G692A	G	+	2	0	ABCC10	43517609	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.399000	0.97285	2.564000	0.86499	0.563000	0.77884	GGG	ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000124574		0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	94	0.00	0	G	NM_033450		43409631	43409631	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	98	17.50	21	SNP	1.000	C
ACTN4	81	genome.wustl.edu	37	19	39220042	39220042	+	Silent	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:39220042C>T	ENST00000252699.2	+	21	2782	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.S683S|ACTN4_ENST00000424234.2_Silent_p.S512S	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	902	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTCCTTCTCCACGGCCTTGT	0.687																																					Colon(168;199 1940 10254 46213 46384)	dbGAP											0													35.0	37.0	36.0					19																	39220042		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2706C>T	19.37:g.39220042C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.S902	ENST00000252699.2	37	c.2706	CCDS12518.1	19																																																																																			ACTN4	-	pfam_EF-hand_Ca_insen	ENSG00000130402		0.687	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	36	0.00	0	C			39220042	39220042	+1	no_errors	ENST00000252699	ensembl	human	known	69_37n	silent	102	18.40	23	SNP	1.000	T
ALS2	57679	genome.wustl.edu	37	2	202619363	202619363	+	Silent	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:202619363C>T	ENST00000264276.6	-	6	1875	c.1503G>A	c.(1501-1503)cgG>cgA	p.R501R		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	501					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCGTTTTCACCCGTGCAGCCT	0.527																																						dbGAP											0													86.0	85.0	85.0					2																	202619363		1898	4113	6011	-	-	-	SO:0001819	synonymous_variant	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1503G>A	2.37:g.202619363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.R501	ENST00000264276.6	37	c.1503	CCDS42800.1	2																																																																																			ALS2	-	NULL	ENSG00000003393		0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	45	0.00	0	C	NM_020919		202619363	202619363	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	0.966	T
AMELX	265	genome.wustl.edu	37	X	11316684	11316684	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:11316684A>T	ENST00000380714.3	+	5	229	c.161A>T	c.(160-162)tAc>tTc	p.Y54F	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.Y68F|AMELX_ENST00000348912.4_Missense_Mutation_p.Y38F|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	54					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCTATGGTTACGAGCCCATG	0.552																																						dbGAP											0													114.0	109.0	111.0					X																	11316684		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.161A>T	X.37:g.11316684A>T	ENSP00000370090:p.Tyr54Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NW6|Q9UCA7	Missense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.Y68F	ENST00000380714.3	37	c.203	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547424	0.65311	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.92249	-3.0;-3.0;-3.0	5.29	5.29	0.74685	.	0.000000	0.51477	D	0.000083	D	0.95341	0.8488	M	0.81682	2.555	0.33936	D	0.642654	B;B;D	0.76494	0.172;0.206;0.999	B;B;D	0.85130	0.095;0.154;0.997	D	0.97423	1.0010	10	0.59425	D	0.04	-8.0496	9.1703	0.37076	0.8351:0.0:0.0:0.1649	.	38;54;68	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	F	54;68;38	ENSP00000370090:Y54F;ENSP00000370088:Y68F;ENSP00000335312:Y38F	ENSP00000335312:Y38F	Y	+	2	0	AMELX	11226605	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.852000	0.48310	1.776000	0.52262	0.339000	0.21740	TAC	AMELX	-	pfam_Amelogenin,smart_Amelogenin	ENSG00000125363		0.552	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	109	0.00	0	A	NM_001142		11316684	11316684	+1	no_errors	ENST00000380712	ensembl	human	known	69_37n	missense	120	19.46	29	SNP	1.000	T
ANKAR	150709	genome.wustl.edu	37	2	190561055	190561055	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:190561055C>A	ENST00000520309.1	+	7	1756	c.1668C>A	c.(1666-1668)aaC>aaA	p.N556K	ANKAR_ENST00000438402.2_Missense_Mutation_p.N556K|ANKAR_ENST00000281412.6_Missense_Mutation_p.N320K|ANKAR_ENST00000313581.4_Missense_Mutation_p.N556K|ANKAR_ENST00000431575.2_Missense_Mutation_p.N485K	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	556						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCAATGCTAACTTCAAGGTCA	0.368																																						dbGAP											0													107.0	102.0	103.0					2																	190561055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1668C>A	2.37:g.190561055C>A	ENSP00000427882:p.Asn556Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.N556K	ENST00000520309.1	37	c.1668	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029430	0.35797	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.26	0.811	0.18739	.	0.337576	0.25453	N	0.030565	T	0.28267	0.0698	N	0.13098	0.295	0.09310	N	0.999998	.	.	.	.	.	.	T	0.14755	-1.0461	8	0.48119	T	0.1	-12.6267	5.6782	0.17761	0.1353:0.5431:0.0:0.3216	.	.	.	.	K	556;556;556;485;320	ENSP00000427882:N556K;ENSP00000313513:N556K;ENSP00000397243:N556K;ENSP00000393043:N485K;ENSP00000281412:N320K	ENSP00000281412:N320K	N	+	3	2	ANKAR	190269300	0.952000	0.32445	0.994000	0.49952	0.521000	0.34408	0.129000	0.15830	0.216000	0.20781	-0.252000	0.11476	AAC	ANKAR	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151687		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	78	0.00	0	C	NM_144708		190561055	190561055	+1	no_errors	ENST00000313581	ensembl	human	known	69_37n	missense	50	49.49	49	SNP	0.151	A
ARHGEF19	128272	genome.wustl.edu	37	1	16532255	16532255	+	Intron	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:16532255C>G	ENST00000270747.3	-	9	1588				ARHGEF19_ENST00000478117.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19						regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCTTCTCAGCACATCCT	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1452-93G>C	1.37:g.16532255C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	RNA	SNP	-	NULL	ENST00000270747.3	37	NULL	CCDS170.1	1																																																																																			ARHGEF19	-	-	ENSG00000142632		0.577	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	28	0.00	0	C	NM_153213		16532255	16532255	-1	no_errors	ENST00000471928	ensembl	human	known	69_37n	rna	15	44.44	12	SNP	0.037	G
ATP10A	57194	genome.wustl.edu	37	15	26026270	26026270	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr15:26026270G>A	ENST00000356865.6	-	2	661	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	184					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGGAGGAGAGCAGCAGAATG	0.567																																						dbGAP											0													107.0	104.0	105.0					15																	26026270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.550C>T	15.37:g.26026270G>A	ENSP00000349325:p.Leu184Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L184F	ENST00000356865.6	37	c.550	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144090	0.77888	.	.	ENSG00000206190	ENST00000356865	D	0.91407	-2.84	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	H	0.97896	4.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.98758	1.0723	10	0.87932	D	0	-26.7874	16.7413	0.85460	0.0:0.0:1.0:0.0	.	184	O60312	AT10A_HUMAN	F	184	ENSP00000349325:L184F	ENSP00000349325:L184F	L	-	1	0	ATP10A	23577363	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	6.062000	0.71155	2.428000	0.82296	0.561000	0.74099	CTC	ATP10A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000206190		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	102	0.00	0	G	NM_024490		26026270	26026270	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	62	36.08	35	SNP	1.000	A
BCAS2	10286	genome.wustl.edu	37	1	115123985	115123985	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:115123985G>C	ENST00000369541.3	-	2	168	c.121C>G	c.(121-123)Cgc>Ggc	p.R41G	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	41					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGTATCTGCGAGTTTCCTCC	0.483																																						dbGAP											0													188.0	187.0	188.0					1																	115123985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.121C>G	1.37:g.115123985G>C	ENSP00000358554:p.Arg41Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.R41G	ENST00000369541.3	37	c.121	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214216	0.79352	.	.	ENSG00000116752	ENST00000369541	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.77486	2.375	0.80722	D	1	B	0.32350	0.366	B	0.37989	0.262	T	0.62849	-0.6767	9	0.49607	T	0.09	-1.4877	13.5265	0.61597	0.0:0.0:0.8442:0.1558	.	41	O75934	SPF27_HUMAN	G	41	.	ENSP00000358554:R41G	R	-	1	0	BCAS2	114925508	0.999000	0.42202	0.985000	0.45067	0.934000	0.57294	3.071000	0.50041	2.681000	0.91329	0.551000	0.68910	CGC	BCAS2	-	pfam_BCAS2	ENSG00000116752		0.483	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	43	0.00	0	G	NM_005872		115123985	115123985	-1	no_errors	ENST00000369541	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	0.995	C
AVPR1B	553	genome.wustl.edu	37	1	206224466	206224466	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:206224466C>A	ENST00000367126.4	+	1	491	c.26C>A	c.(25-27)gCc>gAc	p.A9D	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	9					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGTGGGATGCCAACCCCACC	0.607																																						dbGAP											0													150.0	177.0	168.0					1																	206224466		2202	4299	6501	-	-	-	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.26C>A	1.37:g.206224466C>A	ENSP00000356094:p.Ala9Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.A9D	ENST00000367126.4	37	c.26	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	5.133	0.210071	0.09757	.	.	ENSG00000198049	ENST00000367126	T	0.63417	-0.04	4.87	2.84	0.33178	.	1.089280	0.07179	N	0.853662	T	0.57110	0.2031	L	0.56769	1.78	0.09310	N	1	B	0.27380	0.177	B	0.30105	0.111	T	0.49254	-0.8959	10	0.36615	T	0.2	-12.8726	5.3366	0.15961	0.0:0.6766:0.0:0.3234	.	9	P47901	V1BR_HUMAN	D	9	ENSP00000356094:A9D	ENSP00000356094:A9D	A	+	2	0	AVPR1B	204391089	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.365000	0.20348	1.275000	0.44379	0.467000	0.42956	GCC	AVPR1B	-	prints_Vprs_rcpt_V1B	ENSG00000198049		0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	91	0.00	0	C	NM_000707		206224466	206224466	+1	no_errors	ENST00000367126	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	0.004	A
C11orf49	79096	genome.wustl.edu	37	11	47178757	47178757	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:47178757G>A	ENST00000278460.7	+	6	694	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	C11orf49_ENST00000378618.2_Missense_Mutation_p.R212Q|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.R212Q|C11orf49_ENST00000378615.3_Missense_Mutation_p.R212Q|C11orf49_ENST00000536126.1_Missense_Mutation_p.R115Q|C11orf49_ENST00000543718.1_Missense_Mutation_p.R128Q	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	212						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTGTGTGATCGGCACAAGTAC	0.672																																						dbGAP											0													43.0	43.0	43.0					11																	47178757		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.635G>A	11.37:g.47178757G>A	ENSP00000278460:p.Arg212Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.R212Q	ENST00000278460.7	37	c.635	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.478626	0.96291	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000543718;ENST00000526827	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999	D;D;D;D;D	0.76575	0.975;0.975;0.988;0.986;0.969	T	0.41520	-0.9504	10	0.49607	T	0.09	-22.6414	19.1532	0.93499	0.0:0.0:1.0:0.0	.	128;128;212;212;212	F5H6E0;B4DEG1;E9PAX7;Q9H6J7-2;Q9H6J7	.;.;.;.;CK049_HUMAN	Q	115;212;212;212;212;128;138	ENSP00000438207:R115Q;ENSP00000278460:R212Q;ENSP00000367881:R212Q;ENSP00000378844:R212Q;ENSP00000367878:R212Q;ENSP00000437689:R128Q;ENSP00000433707:R138Q	ENSP00000278460:R212Q	R	+	2	0	C11orf49	47135333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.676000	0.91199	2.769000	0.95229	0.655000	0.94253	CGG	C11orf49	-	NULL	ENSG00000149179		0.672	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	43	0.00	0	G	NM_024113		47178757	47178757	+1	no_errors	ENST00000378615	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	1.000	A
C1orf141	400757	genome.wustl.edu	37	1	67568957	67568957	+	Intron	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:67568957C>T	ENST00000371007.2	-	6	456				SNORA31_ENST00000516624.1_RNA|C1orf141_ENST00000371006.1_Intron|C1orf141_ENST00000544837.1_Intron	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141											NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTTTATGAGCATTAGACTGA	0.338																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.347-6953G>A	1.37:g.67568957C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	NULL	p.A175T	ENST00000371007.2	37	c.523	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.369002	0.24771	.	.	ENSG00000203963	ENST00000371005;ENST00000448166	.	.	.	3.66	2.73	0.32206	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	T	0.13229	-1.0517	5	0.48119	T	0.1	.	7.4375	0.27164	0.0:0.8806:0.0:0.1194	.	.	.	.	T	175	.	ENSP00000360044:A175T	A	-	1	0	C1orf141	67341545	0.001000	0.12720	0.012000	0.15200	0.059000	0.15707	1.095000	0.30964	1.105000	0.41606	0.563000	0.77884	GCT	C1orf141	-	NULL	ENSG00000203963		0.338	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf141	HGNC	protein_coding	OTTHUMT00000026096.2	50	0.00	0	C	NM_001013674		67568957	67568957	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000448166	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.013	T
CACNA1C	775	genome.wustl.edu	37	12	2705149	2705149	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:2705149C>G	ENST00000347598.4	+	20	2773	c.2773C>G	c.(2773-2775)Cac>Gac	p.H925D	CACNA1C_ENST00000344100.3_Missense_Mutation_p.H925D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H925D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H950D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H925D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H925D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H925D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H925D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	925					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGTCCAGCACACCTCCTT	0.557																																						dbGAP											0													99.0	97.0	98.0					12																	2705149		2059	4189	6248	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2773C>G	12.37:g.2705149C>G	ENSP00000266376:p.His925Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.H925D	ENST00000347598.4	37	c.2773	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419006	0.25552	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.8	4.8	0.61643	.	0.253479	0.45606	D	0.000346	D	0.96390	0.8822	N	0.20328	0.56	0.41329	D	0.987225	D;B;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;P;B;B;P;P;B;B;B	0.63046	0.992;0.452;0.014;0.278;0.99;0.317;0.452;0.202;0.053;0.012;0.317;0.228;0.026;0.202;0.278;0.128;0.4;0.001;0.51;0.023;0.228;0.51;0.51;0.274;0.015;0.274	P;B;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.74348	0.794;0.164;0.005;0.057;0.983;0.164;0.164;0.205;0.089;0.061;0.164;0.058;0.061;0.205;0.039;0.101;0.121;0.001;0.167;0.01;0.121;0.228;0.167;0.086;0.025;0.112	D	0.94701	0.7883	10	0.16420	T	0.52	.	18.0393	0.89314	0.0:1.0:0.0:0.0	.	925;922;925;925;925;925;925;925;925;925;925;925;896;925;925;925;925;925;925;925;925;925;925;925;925;925	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	950;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;925;766	ENSP00000336982:H950D;ENSP00000382563:H925D;ENSP00000437936:H925D;ENSP00000382552:H925D;ENSP00000382547:H925D;ENSP00000382506:H925D;ENSP00000382530:H925D;ENSP00000382546:H925D;ENSP00000382500:H925D;ENSP00000382549:H925D;ENSP00000266376:H925D;ENSP00000382515:H925D;ENSP00000382510:H925D;ENSP00000341092:H925D;ENSP00000382537:H925D;ENSP00000329877:H925D;ENSP00000382557:H925D;ENSP00000385724:H925D;ENSP00000382512:H925D;ENSP00000382542:H925D;ENSP00000382526:H925D;ENSP00000385896:H925D;ENSP00000382504:H925D	ENSP00000323129:H766D	H	+	1	0	CACNA1C	2575410	0.982000	0.34865	1.000000	0.80357	0.986000	0.74619	2.512000	0.45485	2.501000	0.84356	0.462000	0.41574	CAC	CACNA1C	-	NULL	ENSG00000151067		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	47	0.00	0	C	NM_000719		2705149	2705149	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	G
CAPN12	147968	genome.wustl.edu	37	19	39234799	39234799	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:39234799A>T	ENST00000328867.4	-	1	315	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	3					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACTGCTGGATGCCATCTGG	0.642																																						dbGAP											0													44.0	47.0	46.0					19																	39234799		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.7T>A	19.37:g.39234799A>T	ENSP00000331636:p.Ser3Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S3T	ENST00000328867.4	37	c.7	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	a	4.259	0.047141	0.08243	.	.	ENSG00000182472	ENST00000328867	D	0.87179	-2.22	3.82	-1.08	0.09936	.	0.977765	0.08367	N	0.956730	T	0.76863	0.4047	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	T	0.61907	-0.6966	10	0.52906	T	0.07	.	4.2597	0.10735	0.3854:0.2865:0.0:0.3281	.	3	Q6ZSI9	CAN12_HUMAN	T	3	ENSP00000331636:S3T	ENSP00000331636:S3T	S	-	1	0	CAPN12	43926639	0.001000	0.12720	0.255000	0.24374	0.138000	0.21146	0.890000	0.28295	-0.289000	0.09038	-0.752000	0.03492	TCC	CAPN12	-	NULL	ENSG00000182472		0.642	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	48	0.00	0	A			39234799	39234799	-1	no_errors	ENST00000328867	ensembl	human	known	69_37n	missense	39	60.61	60	SNP	0.022	T
CASKIN1	57524	genome.wustl.edu	37	16	2239096	2239096	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr16:2239096G>T	ENST00000343516.6	-	6	641	c.549C>A	c.(547-549)gaC>gaA	p.D183E		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	183					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTCGGTGGCGTCTCCCGGCC	0.642																																						dbGAP											0													56.0	63.0	61.0					16																	2239096		2071	4191	6262	-	-	-	SO:0001583	missense	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.549C>A	16.37:g.2239096G>T	ENSP00000345436:p.Asp183Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2P0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.D183E	ENST00000343516.6	37	c.549	CCDS42103.1	16	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416068	0.42817	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.71579	-0.58	3.46	-2.36	0.06663	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.61085	0.2319	L	0.28649	0.875	0.47407	D	0.999415	B	0.32893	0.389	B	0.40782	0.34	T	0.56202	-0.8018	9	0.87932	D	0	-27.1642	11.1638	0.48531	0.4407:0.0:0.5593:0.0	.	183	Q8WXD9	CSKI1_HUMAN	E	183;12	ENSP00000345436:D183E	ENSP00000345436:D183E	D	-	3	2	CASKIN1	2179097	0.001000	0.12720	0.097000	0.21041	0.242000	0.25591	-0.057000	0.11768	-0.661000	0.05345	-2.069000	0.00389	GAC	CASKIN1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167971		0.642	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	77	0.00	0	G	NM_020764		2239096	2239096	-1	no_errors	ENST00000343516	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	0.980	T
CBLC	23624	genome.wustl.edu	37	19	45284307	45284307	+	Splice_Site	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:45284307C>G	ENST00000270279.3	+	2	562	c.499C>G	c.(499-501)Cgg>Ggg	p.R167G	CBLC_ENST00000341505.4_Splice_Site_p.R167G	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	167	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TTGCGGAGCCCGGTGAGTAAG	0.647			M		AML																																	dbGAP		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													47.0	48.0	47.0					19																	45284307		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.500+1C>G	19.37:g.45284307C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.R167G	ENST00000270279.3	37	c.499	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330967	0.41297	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.87809	-2.29;-2.3	4.98	3.85	0.44370	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.343652	0.23256	N	0.050191	D	0.92280	0.7551	M	0.77820	2.39	0.29925	N	0.822427	D;D	0.89917	0.995;1.0	D;D	0.76575	0.926;0.988	D	0.88288	0.2941	10	0.87932	D	0	-12.2086	11.3907	0.49813	0.2636:0.7364:0.0:0.0	.	167;167	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	G	167	ENSP00000270279:R167G;ENSP00000340250:R167G	ENSP00000270279:R167G	R	+	1	2	CBLC	49976147	0.982000	0.34865	0.945000	0.38365	0.103000	0.19146	2.623000	0.46435	2.315000	0.78130	0.491000	0.48974	CGG	CBLC	-	pfam_Adaptor_Cbl_EF_hand-like	ENSG00000142273		0.647	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	49	0.00	0	C	NM_012116	Missense_Mutation	45284307	45284307	+1	no_errors	ENST00000270279	ensembl	human	known	69_37n	missense	47	45.35	39	SNP	0.983	G
CCDC155	147872	genome.wustl.edu	37	19	49913126	49913126	+	Silent	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:49913126G>T	ENST00000447857.3	+	15	1468	c.1263G>T	c.(1261-1263)ggG>ggT	p.G421G		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	421						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G421G(1)|p.G421E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCCCAGCTGGGGGACAGGTGA	0.582																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											63.0	67.0	66.0					19																	49913126		1900	4130	6030	-	-	-	SO:0001819	synonymous_variant	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1263G>T	19.37:g.49913126G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MC3	Silent	SNP	NULL	p.G421	ENST00000447857.3	37	c.1263	CCDS46140.1	19																																																																																			CCDC155	-	NULL	ENSG00000161609		0.582	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	41	0.00	0	G	NM_144688		49913126	49913126	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	silent	41	16.00	8	SNP	0.000	T
CCDC37	348807	genome.wustl.edu	37	3	126135159	126135159	+	Splice_Site	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:126135159G>C	ENST00000352312.1	+	5	325	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	CCDC37_ENST00000505024.1_Splice_Site_p.E76Q|CCDC37_ENST00000393425.1_Splice_Site_p.E76Q	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	76										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACGCCCCCAGGAACGGCAGCA	0.697																																						dbGAP											0													28.0	26.0	27.0					3																	126135159		2188	4269	6457	-	-	-	SO:0001630	splice_region_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.226-1G>C	3.37:g.126135159G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.E76Q	ENST00000352312.1	37	c.226	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335827	0.41398	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.38401	1.14;1.18;1.18	4.59	4.59	0.56863	.	0.209202	0.38492	N	0.001676	T	0.32704	0.0838	L	0.54323	1.7	0.50467	D	0.999879	P;B	0.36199	0.543;0.408	B;B	0.34180	0.177;0.086	T	0.11179	-1.0598	9	.	.	.	-20.5516	12.8856	0.58042	0.0:0.0:1.0:0.0	.	76;76	Q494V2-2;Q494V2	.;CCD37_HUMAN	Q	76	ENSP00000344749:E76Q;ENSP00000377076:E76Q;ENSP00000423046:E76Q	.	E	+	1	0	CCDC37	127617849	1.000000	0.71417	0.981000	0.43875	0.298000	0.27526	6.059000	0.71133	2.102000	0.63906	0.491000	0.48974	GAA	CCDC37	-	NULL	ENSG00000163885		0.697	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	123	0.00	0	G	NM_182628	Missense_Mutation	126135159	126135159	+1	no_errors	ENST00000393425	ensembl	human	known	69_37n	missense	103	23.70	32	SNP	0.973	C
CCDC74A	90557	genome.wustl.edu	37	2	132287905	132287905	+	Intron	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:132287905C>A	ENST00000295171.6	+	3	433				CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.P119T	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A											endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGAGCCAGCCTGGGAACAT	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.296-247C>A	2.37:g.132287905C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4I5	Missense_Mutation	SNP	NULL	p.P119T	ENST00000295171.6	37	c.355	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	11.39	1.624953	0.28889	.	.	ENSG00000163040	ENST00000467992	T	0.55588	0.51	1.47	0.233	0.15386	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47724	-0.9095	6	0.87932	D	0	.	4.8742	0.13648	0.0:0.604:0.396:0.0	.	.	.	.	T	119	ENSP00000444610:P119T	ENSP00000444610:P119T	P	+	1	0	CCDC74A	132004375	0.000000	0.05858	0.076000	0.20297	0.082000	0.17680	-0.087000	0.11215	0.799000	0.34018	0.194000	0.17425	CCT	CCDC74A	-	NULL	ENSG00000163040		0.622	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	68	0.00	0	C	NM_138770		132287905	132287905	+1	no_errors	ENST00000467992	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.015	A
CCDC87	55231	genome.wustl.edu	37	11	66358623	66358623	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:66358623C>A	ENST00000333861.3	-	1	1931	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	622					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAATCTCCACAGGAACCTCT	0.478																																						dbGAP											0													106.0	106.0	106.0					11																	66358623		2200	4295	6495	-	-	-	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1864G>T	11.37:g.66358623C>A	ENSP00000328487:p.Val622Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NE76	Missense_Mutation	SNP	pfam_Microtubule-assoc_MAP65_ASE1	p.V622L	ENST00000333861.3	37	c.1864	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	3.575	-0.086816	0.07097	.	.	ENSG00000182791	ENST00000333861	T	0.30714	1.52	5.05	2.12	0.27331	.	0.425852	0.17741	N	0.163544	T	0.25195	0.0612	L	0.57536	1.79	0.09310	N	1	B	0.24186	0.099	B	0.21151	0.033	T	0.16305	-1.0407	10	0.23891	T	0.37	-4.1781	7.1105	0.25388	0.0:0.715:0.0:0.285	.	622	Q9NVE4	CCD87_HUMAN	L	622	ENSP00000328487:V622L	ENSP00000328487:V622L	V	-	1	0	CCDC87	66115199	0.000000	0.05858	0.032000	0.17829	0.418000	0.31294	-0.201000	0.09464	0.722000	0.32252	0.462000	0.41574	GTG	CCDC87	-	NULL	ENSG00000182791		0.478	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	46	0.00	0	C	NM_018219		66358623	66358623	-1	no_errors	ENST00000333861	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.002	A
CCS	9973	genome.wustl.edu	37	11	66366699	66366699	+	Silent	SNP	C	C	G	rs377031880		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:66366699C>G	ENST00000533244.1	+	3	666	c.225C>G	c.(223-225)ctC>ctG	p.L75L	CCS_ENST00000310190.4_Silent_p.L56L	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	75	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.L75L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGGCGGTACTCAAGGGCATGG	0.607																																						dbGAP											1	Substitution - coding silent(1)	cervix(1)											62.0	53.0	56.0					11																	66366699		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.225C>G	11.37:g.66366699C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M366|Q8NEV0	Silent	SNP	pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom	p.L75	ENST00000533244.1	37	c.225	CCDS8146.1	11																																																																																			CCS	-	superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA	ENSG00000173992		0.607	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCS	HGNC	protein_coding	OTTHUMT00000393826.1	67	0.00	0	C	NM_005125		66366699	66366699	+1	no_errors	ENST00000533244	ensembl	human	known	69_37n	silent	47	24.19	15	SNP	1.000	G
CD8B	926	genome.wustl.edu	37	2	87085339	87085339	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:87085339C>T	ENST00000390655.6	-	2	302	c.244G>A	c.(244-246)Ggt>Agt	p.G82S	CD8B_ENST00000393761.2_Missense_Mutation_p.G82S|CD8B_ENST00000331469.2_Missense_Mutation_p.G82S|CD8B_ENST00000349455.3_Missense_Mutation_p.G82S|CD8B_ENST00000393759.2_Missense_Mutation_p.G82S|CD8B_ENST00000431506.2_Intron	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	82	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ACCTCTTCACCGTGGATAGTC	0.542																																						dbGAP											0													106.0	95.0	99.0					2																	87085339		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.244G>A	2.37:g.87085339C>T	ENSP00000375070:p.Gly82Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G82S	ENST00000390655.6	37	c.244	CCDS1997.1	2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345739	0.41498	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.35	1.55	0.23275	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.246035	0.40469	N	0.001081	T	0.61048	0.2316	L	0.47716	1.5	0.09310	N	1	D;D;D;D;D;D	0.65815	0.991;0.983;0.983;0.993;0.995;0.978	P;P;P;P;P;P	0.55222	0.764;0.703;0.764;0.599;0.771;0.652	T	0.52631	-0.8550	10	0.42905	T	0.14	-9.5188	6.74	0.23431	0.0:0.6877:0.0:0.3123	.	82;82;82;82;82;82	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	82	ENSP00000377358:G82S;ENSP00000377356:G82S;ENSP00000340592:G82S;ENSP00000331172:G82S;ENSP00000375070:G82S	ENSP00000331172:G82S	G	-	1	0	CD8B	86938850	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.763000	0.26517	0.017000	0.15025	-1.049000	0.02347	GGT	CD8B	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000172116		0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	109	0.00	0	C	NM_172099		87085339	87085339	-1	no_errors	ENST00000331469	ensembl	human	known	69_37n	missense	115	37.84	70	SNP	0.000	T
PSG9	5678	genome.wustl.edu	37	19	43716568	43716568	+	3'UTR	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:43716568G>A	ENST00000418820.2	-	0	1122				CEACAMP10_ENST00000489959.1_RNA			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				cttgctcttcgtgattccatg	0.418																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.*43C>T	19.37:g.43716568G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	RNA	SNP	-	NULL	ENST00000418820.2	37	NULL		19																																																																																			CEACAMP10	-	-	ENSG00000241104		0.418	PSG9-011	PUTATIVE	basic	protein_coding	CEACAMP10	HGNC	protein_coding	OTTHUMT00000463916.1	99	0.00	0	G	NM_002784		43716568	43716568	-1	no_errors	ENST00000489959	ensembl	human	known	69_37n	rna	121	23.90	38	SNP	0.004	A
CLUAP1	23059	genome.wustl.edu	37	16	3580649	3580649	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr16:3580649A>C	ENST00000576634.1	+	10	1154	c.1010A>C	c.(1009-1011)cAg>cCg	p.Q337P	CLUAP1_ENST00000341633.5_Missense_Mutation_p.Q337P|CLUAP1_ENST00000417763.2_Missense_Mutation_p.Q171P|CLUAP1_ENST00000572600.1_Missense_Mutation_p.Q171P|CLUAP1_ENST00000445795.2_Missense_Mutation_p.Q96P|CLUAP1_ENST00000571025.1_Missense_Mutation_p.Q337P	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	337					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CCCAAGCCACAGACAGCCATG	0.577																																						dbGAP											0													79.0	64.0	69.0					16																	3580649		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1010A>C	16.37:g.3580649A>C	ENSP00000460850:p.Gln337Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	pfam_Clusterin-associated_protein-1,superfamily_CH-domain	p.Q337P	ENST00000576634.1	37	c.1010	CCDS32381.1	16	.	.	.	.	.	.	.	.	.	.	A	6.466	0.454196	0.12283	.	.	ENSG00000103351	ENST00000341633;ENST00000417763;ENST00000445795	T;T;T	0.44482	1.55;0.92;0.92	5.57	3.62	0.41486	.	0.301353	0.36778	N	0.002407	T	0.20373	0.0490	N	0.08118	0	0.09310	N	1	B;B;B	0.24533	0.0;0.0;0.105	B;B;B	0.22601	0.001;0.0;0.04	T	0.12400	-1.0549	10	0.41790	T	0.15	-5.9759	6.0474	0.19768	0.1676:0.1555:0.6769:0.0	.	171;337;96	Q96AJ1-2;Q96AJ1;B4DFY1	.;CLUA1_HUMAN;.	P	337;171;96	ENSP00000344392:Q337P;ENSP00000388642:Q171P;ENSP00000397710:Q96P	ENSP00000344392:Q337P	Q	+	2	0	CLUAP1	3520650	0.005000	0.15991	0.224000	0.23877	0.242000	0.25591	0.721000	0.25911	0.733000	0.32492	-0.241000	0.12123	CAG	CLUAP1	-	NULL	ENSG00000103351		0.577	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUAP1	HGNC	protein_coding	OTTHUMT00000437883.2	24	0.00	0	A	NM_024793		3580649	3580649	+1	no_errors	ENST00000576634	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.317	C
COL16A1	1307	genome.wustl.edu	37	1	32165447	32165447	+	Missense_Mutation	SNP	C	C	T	rs573984488		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:32165447C>T	ENST00000373672.3	-	4	749	c.233G>A	c.(232-234)cGc>cAc	p.R78H	COL16A1_ENST00000373668.3_Missense_Mutation_p.R78H|COL16A1_ENST00000271069.6_Missense_Mutation_p.R78H	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	78	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGCCCCCAGGCGCAGGATGAG	0.592																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0													67.0	69.0	68.0					1																	32165447		1938	4139	6077	-	-	-	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.233G>A	1.37:g.32165447C>T	ENSP00000362776:p.Arg78His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.R78H	ENST00000373672.3	37	c.233	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.960572	0.74016	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.41065	1.01;1.01;1.01	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.64450	0.2599	M	0.72353	2.195	0.42246	D	0.991957	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.69921	-0.5014	10	0.87932	D	0	.	16.67	0.85263	0.0:1.0:0.0:0.0	.	78;78	A6NCT7;Q07092	.;COGA1_HUMAN	H	78	ENSP00000362776:R78H;ENSP00000271069:R78H;ENSP00000362772:R78H	ENSP00000271069:R78H	R	-	2	0	COL16A1	31938034	0.998000	0.40836	0.999000	0.59377	0.821000	0.46438	4.426000	0.59882	2.302000	0.77476	0.556000	0.70494	CGC	COL16A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000084636		0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	61	0.00	0	C	NM_001856		32165447	32165447	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	T
CPSF6	11052	genome.wustl.edu	37	12	69656294	69656294	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:69656294C>G	ENST00000435070.2	+	9	1721	c.1611C>G	c.(1609-1611)gaC>gaG	p.D537E	CPSF6_ENST00000456847.3_Missense_Mutation_p.D464E|CPSF6_ENST00000266679.8_Missense_Mutation_p.D574E|CPSF6_ENST00000551516.1_Missense_Mutation_p.T40S	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	537	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			gtgaccgagaccgtgaccgag	0.478																																						dbGAP											0													211.0	149.0	170.0					12																	69656294		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1611C>G	12.37:g.69656294C>G	ENSP00000391774:p.Asp537Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D574E	ENST00000435070.2	37	c.1722	CCDS8988.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.590174|1.590174	0.28357|0.28357	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679|ENST00000551516	T;T;T|.	0.50001|.	0.76;0.76;0.76|.	5.74|5.74	0.737|0.737	0.18314|0.18314	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.25245|0.25245	0.725|0.725	0.21527|0.21527	N|N	0.999659|0.999659	D;D;D|.	0.61697|.	0.972;0.99;0.984|.	P;D;D|.	0.72625|.	0.866;0.978;0.935|.	T|T	0.26121|0.26121	-1.0112|-1.0112	9|5	.|.	.|.	.|.	-8.8289|-8.8289	10.9521|10.9521	0.47336|0.47336	0.0:0.62:0.0:0.38|0.0:0.62:0.0:0.38	.|.	286;574;537|.	B4DSU9;Q16630-2;Q16630|.	.;.;CPSF6_HUMAN|.	E|S	537;464;574|40	ENSP00000391774:D537E;ENSP00000391437:D464E;ENSP00000266679:D574E|.	.|.	D|T	+|+	3|2	2|0	CPSF6|CPSF6	67942561|67942561	1.000000|1.000000	0.71417|0.71417	0.838000|0.838000	0.33150|0.33150	0.971000|0.971000	0.66376|0.66376	0.912000|0.912000	0.28597|0.28597	-0.057000|-0.057000	0.13199|0.13199	-0.145000|-0.145000	0.13849|0.13849	GAC|ACC	CPSF6	-	NULL	ENSG00000111605		0.478	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	33	0.00	0	C	NM_007007		69656294	69656294	+1	no_errors	ENST00000266679	ensembl	human	known	69_37n	missense	31	10.53	4	SNP	1.000	G
CROT	54677	genome.wustl.edu	37	7	87011757	87011757	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:87011757C>A	ENST00000331536.3	+	13	1384	c.1199C>A	c.(1198-1200)gCc>gAc	p.A400D	CROT_ENST00000442291.1_Missense_Mutation_p.A400D|CROT_ENST00000419147.2_Missense_Mutation_p.A428D	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	400					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCGGCTTATGCCTTTACATCT	0.398																																						dbGAP											0													102.0	92.0	95.0					7																	87011757		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1199C>A	7.37:g.87011757C>A	ENSP00000331981:p.Ala400Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A400D	ENST00000331536.3	37	c.1199	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849275	0.71603	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89123	-2.47;-2.47;-2.47	5.38	5.38	0.77491	.	0.202911	0.51477	D	0.000089	D	0.91126	0.7206	L	0.56396	1.775	0.80722	D	1	B;P	0.34615	0.316;0.459	P;B	0.48738	0.588;0.388	D	0.86814	0.2000	10	0.12430	T	0.62	-1.0426	19.4856	0.95027	0.0:1.0:0.0:0.0	.	428;400	E7EQF2;Q9UKG9	.;OCTC_HUMAN	D	428;400;400	ENSP00000413575:A428D;ENSP00000331981:A400D;ENSP00000411983:A400D	ENSP00000331981:A400D	A	+	2	0	CROT	86849693	0.969000	0.33509	0.912000	0.35992	0.818000	0.46254	6.841000	0.75374	2.666000	0.90696	0.467000	0.42956	GCC	CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.398	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	101	0.00	0	C	NM_021151		87011757	87011757	+1	no_errors	ENST00000331536	ensembl	human	known	69_37n	missense	60	46.90	53	SNP	1.000	A
CYP7A1	1581	genome.wustl.edu	37	8	59407086	59407086	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:59407086G>T	ENST00000301645.3	-	4	1155	c.1018C>A	c.(1018-1020)Ctg>Atg	p.L340M		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	340					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGGTCATTCAGTTCTGCTTGA	0.353									Neonatal Giant Cell Hepatitis																													dbGAP											0													158.0	134.0	142.0					8																	59407086		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1018C>A	8.37:g.59407086G>T	ENSP00000301645:p.Leu340Met	Somatic		WXS	Illumina GAIIx	Phase_IV	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L340M	ENST00000301645.3	37	c.1018	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909214	0.33721	.	.	ENSG00000167910	ENST00000301645	T	0.72505	-0.66	5.74	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.79475	2.455	0.54753	D	0.999981	D	0.76494	0.999	D	0.77557	0.99	T	0.79960	-0.1583	10	0.56958	D	0.05	-11.4367	7.5527	0.27806	0.1354:0.0:0.7297:0.135	.	340	P22680	CP7A1_HUMAN	M	340	ENSP00000301645:L340M	ENSP00000301645:L340M	L	-	1	2	CYP7A1	59569640	0.997000	0.39634	0.904000	0.35570	0.085000	0.17905	2.513000	0.45494	0.786000	0.33708	-0.803000	0.03203	CTG	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000167910		0.353	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	54	0.00	0	G	NM_000780		59407086	59407086	-1	no_errors	ENST00000301645	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.985	T
DHX34	9704	genome.wustl.edu	37	19	47879196	47879196	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:47879196C>T	ENST00000328771.4	+	11	2672	c.2323C>T	c.(2323-2325)Ctt>Ttt	p.L775F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	775					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GAAGTTCAAGCTTCGGCATGA	0.667																																						dbGAP											0													53.0	57.0	56.0					19																	47879196		2198	4295	6493	-	-	-	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2323C>T	19.37:g.47879196C>T	ENSP00000331907:p.Leu775Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L775F	ENST00000328771.4	37	c.2323	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544415	0.65198	.	.	ENSG00000134815	ENST00000328771	T	0.03982	3.74	5.35	5.35	0.76521	Domain of unknown function DUF1605 (1);	0.255835	0.28572	N	0.014866	T	0.22975	0.0555	M	0.85630	2.765	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.00314	-1.1824	10	0.87932	D	0	-26.9109	11.3485	0.49575	0.0:0.9149:0.0:0.0851	.	775	Q14147	DHX34_HUMAN	F	775	ENSP00000331907:L775F	ENSP00000331907:L775F	L	+	1	0	DHX34	52570994	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.271000	0.43364	2.517000	0.84864	0.655000	0.94253	CTT	DHX34	-	pfam_DUF1605	ENSG00000134815		0.667	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	51	0.00	0	C	NM_014681		47879196	47879196	+1	no_errors	ENST00000328771	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	T
DKK3	27122	genome.wustl.edu	37	11	11987491	11987491	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:11987491G>T	ENST00000396505.2	-	7	933	c.695C>A	c.(694-696)aCa>aAa	p.T232K	DKK3_ENST00000525493.1_Missense_Mutation_p.T232K|DKK3_ENST00000326932.4_Missense_Mutation_p.T232K|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.T204K	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	232	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GGGCAGGGGTGTGCACACAGG	0.637																																						dbGAP											0													37.0	41.0	39.0					11																	11987491		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.695C>A	11.37:g.11987491G>T	ENSP00000379762:p.Thr232Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	pfam_Dickkopf_N	p.T232K	ENST00000396505.2	37	c.695	CCDS7808.1	11	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112799	0.56398	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813	T;T;T;T;T	0.26223	2.5;2.5;2.5;1.75;2.08	5.76	4.84	0.62591	.	0.246012	0.45867	D	0.000332	T	0.32763	0.0840	L	0.43152	1.355	0.41106	D	0.9857	D;D;D	0.71674	0.971;0.998;0.998	P;P;P	0.59115	0.763;0.852;0.852	T	0.02378	-1.1168	10	0.06891	T	0.86	-27.1755	13.886	0.63708	0.0733:0.0:0.9267:0.0	.	232;204;232	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	K	232;232;175;232;204;76;232	ENSP00000379762:T232K;ENSP00000314910:T232K;ENSP00000433112:T232K;ENSP00000398365:T204K;ENSP00000435269:T232K	ENSP00000314730:T76K	T	-	2	0	DKK3	11944067	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.847000	0.48270	2.713000	0.92767	0.655000	0.94253	ACA	DKK3	-	NULL	ENSG00000050165		0.637	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	89	0.00	0	G	NM_013253		11987491	11987491	-1	no_errors	ENST00000326932	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	T
DLL1	28514	genome.wustl.edu	37	6	170597503	170597503	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:170597503C>T	ENST00000366756.3	-	4	827	c.494G>A	c.(493-495)aGc>aAc	p.S165N	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	165					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GCGGCCGCTGCTGTGCAGGTC	0.627																																						dbGAP											0													61.0	51.0	54.0					6																	170597503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.494G>A	6.37:g.170597503C>T	ENSP00000355718:p.Ser165Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.S165N	ENST00000366756.3	37	c.494	CCDS5313.1	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172458	0.57584	.	.	ENSG00000198719	ENST00000366756	D	0.95949	-3.86	4.44	3.54	0.40534	Delta/Serrate/lag-2 (DSL) protein (2);	0.262657	0.43110	N	0.000604	D	0.87442	0.6178	N	0.25060	0.705	0.35027	D	0.758371	P;P	0.38677	0.642;0.601	B;B	0.43701	0.339;0.428	D	0.85876	0.1419	10	0.07482	T	0.82	.	15.8788	0.79185	0.0:0.8527:0.1473:0.0	.	165;165	B5M0B3;O00548	.;DLL1_HUMAN	N	165	ENSP00000355718:S165N	ENSP00000355718:S165N	S	-	2	0	DLL1	170439428	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.022000	0.41030	2.324000	0.78689	0.558000	0.71614	AGC	DLL1	-	pfam_DSL,smart_DSL	ENSG00000198719		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	90	0.00	0	C			170597503	170597503	-1	no_errors	ENST00000366756	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	0.995	T
DNAH17	8632	genome.wustl.edu	37	17	76471536	76471536	+	Missense_Mutation	SNP	C	C	G	rs201051948		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:76471536C>G	ENST00000585328.1	-	54	8444	c.8320G>C	c.(8320-8322)Gcc>Ccc	p.A2774P	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A2765P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2765	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGCCACGGCGTCCTCAAAC	0.597																																						dbGAP											0													48.0	51.0	50.0					17																	76471536		2105	4234	6339	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8320G>C	17.37:g.76471536C>G	ENSP00000465516:p.Ala2774Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.A2765P	ENST00000585328.1	37	c.8293		17	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273418	0.40194	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56776	0.44	4.72	4.72	0.59763	.	.	.	.	.	D	0.86112	0.5855	H	0.99906	4.925	0.30600	N	0.760573	.	.	.	.	.	.	D	0.89051	0.3455	7	0.87932	D	0	.	15.8646	0.79055	0.0:1.0:0.0:0.0	.	.	.	.	P	2774;2765	ENSP00000374490:A2765P	ENSP00000300671:A2774P	A	-	1	0	DNAH17	73983131	0.700000	0.27796	0.216000	0.23742	0.111000	0.19643	1.494000	0.35616	2.181000	0.69327	0.484000	0.47621	GCC	DNAH17	-	NULL	ENSG00000187775		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	42	0.00	0	C	NM_173628		76471536	76471536	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	0.682	G
ELF2	1998	genome.wustl.edu	37	4	139980596	139980596	+	Silent	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr4:139980596C>A	ENST00000394235.2	-	10	1789	c.1287G>T	c.(1285-1287)gtG>gtT	p.V429V	ELF2_ENST00000379550.1_Silent_p.V441V|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379549.2_Silent_p.V352V|ELF2_ENST00000510408.1_Silent_p.V369V|ELF2_ENST00000265495.4_Silent_p.V429V|ELF2_ENST00000358635.3_Silent_p.V381V	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AAGCTGGCATCACAGTAGGGA	0.458																																						dbGAP											0													80.0	74.0	76.0					4																	139980596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1287G>T	4.37:g.139980596C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.V441	ENST00000394235.2	37	c.1323	CCDS3744.1	4																																																																																			ELF2	-	NULL	ENSG00000109381		0.458	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	126	0.00	0	C	NM_006874		139980596	139980596	-1	no_errors	ENST00000379550	ensembl	human	known	69_37n	silent	93	46.55	81	SNP	1.000	A
EPHB3	2049	genome.wustl.edu	37	3	184294819	184294819	+	Missense_Mutation	SNP	G	G	C	rs140106380	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:184294819G>C	ENST00000330394.2	+	5	1654	c.1202G>C	c.(1201-1203)cGg>cCg	p.R401P	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	401	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TTTGTGCCTCGGCAGCTGGGC	0.627																																						dbGAP											0													83.0	86.0	85.0					3																	184294819		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1202G>C	3.37:g.184294819G>C	ENSP00000332118:p.Arg401Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R401P	ENST00000330394.2	37	c.1202	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559989	0.86335	.	.	ENSG00000182580	ENST00000330394	T	0.58210	0.35	5.29	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.72320	-0.4329	10	0.42905	T	0.14	.	13.6883	0.62531	0.0757:0.0:0.9243:0.0	.	401	P54753	EPHB3_HUMAN	P	401	ENSP00000332118:R401P	ENSP00000332118:R401P	R	+	2	0	EPHB3	185777513	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.758000	0.98927	1.357000	0.45904	0.448000	0.29417	CGG	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000182580		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	68	0.00	0	G	NM_004443		184294819	184294819	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	missense	46	60.00	69	SNP	1.000	C
ERVW-1	30816	genome.wustl.edu	37	7	92098628	92098628	+	Silent	SNP	C	C	A	rs200174854		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:92098628C>A	ENST00000493463.2	-	1	1991	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Silent_p.G356G	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	356					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						gttccatgtccccatttagtt	0.468																																						dbGAP											0													72.0	72.0	72.0					7																	92098628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1068G>T	7.37:g.92098628C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Silent	SNP	pfam_TLV/ENV_coat_polyprotein	p.G356	ENST00000493463.2	37	c.1068	CCDS5626.1	7																																																																																			ERVW-1	-	pfam_TLV/ENV_coat_polyprotein	ENSG00000242950		0.468	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVW-1	HGNC	protein_coding	OTTHUMT00000254009.2	53	0.00	0	C	NM_014590		92098628	92098628	-1	no_errors	ENST00000493463	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	0.712	A
ESAM	90952	genome.wustl.edu	37	11	124628362	124628362	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:124628362C>A	ENST00000278927.5	-	2	261	c.132G>T	c.(130-132)gaG>gaT	p.E44D	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	44	Ig-like V-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CTTCCCCTCCCTCCACCGCCT	0.642											OREG0021463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													51.0	42.0	45.0					11																	124628362		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.132G>T	11.37:g.124628362C>A	ENSP00000278927:p.Glu44Asp	Somatic	1535	WXS	Illumina GAIIx	Phase_IV	B4DVN8|Q96T50	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E44D	ENST00000278927.5	37	c.132	CCDS8453.1	11	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967568	0.74131	.	.	ENSG00000149564	ENST00000278927	T	0.69685	-0.42	4.93	1.73	0.24493	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109437	0.64402	D	0.000009	T	0.74313	0.3700	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.939;0.964	T	0.70055	-0.4977	10	0.34782	T	0.22	.	5.4369	0.16486	0.0:0.5589:0.0:0.4411	.	44;44	F8WDW9;Q96AP7	.;ESAM_HUMAN	D	44	ENSP00000278927:E44D	ENSP00000278927:E44D	E	-	3	2	ESAM	124133572	0.994000	0.37717	0.987000	0.45799	0.723000	0.41478	0.116000	0.15561	0.625000	0.30304	0.462000	0.41574	GAG	ESAM	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000149564		0.642	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESAM	HGNC	protein_coding	OTTHUMT00000324686.1	29	0.00	0	C	NM_138961		124628362	124628362	-1	no_errors	ENST00000278927	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	0.999	A
EVI5L	115704	genome.wustl.edu	37	19	7928149	7928149	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:7928149G>A	ENST00000270530.4	+	18	2285	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E708K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	697					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGACCAGATCGAGGAGCTGAA	0.692																																						dbGAP											0													19.0	15.0	16.0					19																	7928149		2142	4222	6364	-	-	-	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2089G>A	19.37:g.7928149G>A	ENSP00000270530:p.Glu697Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E708K	ENST00000270530.4	37	c.2122	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500242	0.44455	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.28069	1.63;1.63	4.7	4.7	0.59300	.	0.244803	0.32884	N	0.005530	T	0.23926	0.0579	L	0.29908	0.895	0.32106	N	0.589996	B;B	0.26935	0.164;0.051	B;B	0.20384	0.029;0.029	T	0.22103	-1.0226	10	0.44086	T	0.13	-17.3083	15.1235	0.72463	0.0:0.0:1.0:0.0	.	708;697	B9A6I9;Q96CN4	.;EVI5L_HUMAN	K	697;708	ENSP00000270530:E697K;ENSP00000445905:E708K	ENSP00000270530:E697K	E	+	1	0	EVI5L	7834149	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.483000	0.60264	2.171000	0.68590	0.491000	0.48974	GAG	EVI5L	-	NULL	ENSG00000142459		0.692	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	14	0.00	0	G	NM_145245		7928149	7928149	+1	no_errors	ENST00000538904	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.997	A
FAM65A	79567	genome.wustl.edu	37	16	67578919	67578919	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr16:67578919G>A	ENST00000379312.3	+	17	3063	c.2942G>A	c.(2941-2943)aGa>aAa	p.R981K	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R991K|FAM65A_ENST00000042381.4_Missense_Mutation_p.R977K|FAM65A_ENST00000422602.2_Missense_Mutation_p.R997K|FAM65A_ENST00000540839.3_Missense_Mutation_p.R996K|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	981						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGCACAGAGAGACTCAGCTGC	0.637																																						dbGAP											0													145.0	146.0	145.0					16																	67578919		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2942G>A	16.37:g.67578919G>A	ENSP00000368614:p.Arg981Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.R997K	ENST00000379312.3	37	c.2990	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	G	0.942	-0.709068	0.03230	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.75938	-0.98;-0.98;-0.98	5.44	5.44	0.79542	.	0.660453	0.15303	N	0.269524	T	0.49677	0.1571	N	0.08118	0	0.20489	N	0.999891	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.20184	0.017;0.028;0.017	T	0.36866	-0.9730	10	0.02654	T	1	-4.1978	9.4887	0.38946	0.0:0.1429:0.6884:0.1687	.	991;997;981	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	K	981;977;997;991	ENSP00000368614:R981K;ENSP00000042381:R977K;ENSP00000400099:R997K	ENSP00000042381:R977K	R	+	2	0	FAM65A	66136420	0.659000	0.27411	1.000000	0.80357	0.208000	0.24298	0.798000	0.27014	2.567000	0.86603	0.655000	0.94253	AGA	FAM65A	-	NULL	ENSG00000039523		0.637	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	64	0.00	0	G	NM_024519		67578919	67578919	+1	no_errors	ENST00000422602	ensembl	human	known	69_37n	missense	62	28.74	25	SNP	0.986	A
FOLH1B	219595	genome.wustl.edu	37	11	89405157	89405157	+	RNA	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:89405157G>C	ENST00000532352.1	+	0	1097							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGGAGCTTTGGAACACTGAAA	0.423																																						dbGAP											0													188.0	166.0	174.0					11																	89405157		2201	4299	6500	-	-	-			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405157G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.423	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	82	0.00	0	G	NM_153696		89405157	89405157	+1	no_errors	ENST00000525540	ensembl	human	known	69_37n	rna	51	43.33	39	SNP	0.997	C
FAT3	120114	genome.wustl.edu	37	11	92086868	92086868	+	Silent	SNP	A	A	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:92086868A>G	ENST00000298047.6	+	1	1607	c.1590A>G	c.(1588-1590)acA>acG	p.T530T	FAT3_ENST00000525166.1_Silent_p.T380T|FAT3_ENST00000409404.2_Silent_p.T530T|FAT3_ENST00000541502.1_Silent_p.T530T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATTAGCACAACTGAAGAAC	0.398										TCGA Ovarian(4;0.039)																												dbGAP											0													114.0	116.0	115.0					11																	92086868		1838	4092	5930	-	-	-	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1590A>G	11.37:g.92086868A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.T530	ENST00000298047.6	37	c.1590		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.398	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		40	0.00	0	A	NM_001008781		92086868	92086868	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.821	G
FREM1	158326	genome.wustl.edu	37	9	14857742	14857742	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr9:14857742T>C	ENST00000380880.3	-	5	1420	c.637A>G	c.(637-639)Aga>Gga	p.R213G	FREM1_ENST00000380881.4_Missense_Mutation_p.R213G|FREM1_ENST00000422223.2_Missense_Mutation_p.R213G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	213					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTTTTGCTCTCAGTTCTAGA	0.433																																						dbGAP											0													73.0	72.0	72.0					9																	14857742		1867	4101	5968	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.637A>G	9.37:g.14857742T>C	ENSP00000370262:p.Arg213Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.R213G	ENST00000380880.3	37	c.637	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	t	5.384	0.256088	0.10185	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10668	2.85;2.85;2.85	6.03	2.9	0.33743	.	0.311546	0.40908	N	0.000989	T	0.03390	0.0098	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	10	0.12766	T	0.61	-3.3321	5.4103	0.16344	0.0:0.4948:0.0:0.5052	.	213	Q5H8C1	FREM1_HUMAN	G	213	ENSP00000370263:R213G;ENSP00000412940:R213G;ENSP00000370262:R213G	ENSP00000370257:R213G	R	-	1	2	FREM1	14847742	0.390000	0.25213	0.993000	0.49108	0.104000	0.19210	1.114000	0.31196	0.890000	0.36211	-0.259000	0.10710	AGA	FREM1	-	NULL	ENSG00000164946		0.433	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	66	0.00	0	T	NM_144966		14857742	14857742	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.261	C
FZD2	2535	genome.wustl.edu	37	17	42636406	42636408	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	CAA	CAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:42636406_42636408delCAA	ENST00000315323.3	+	1	1482_1484	c.1350_1352delCAA	c.(1348-1353)accaag>acg	p.K451del		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	451					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACGACGGCACCAAGACCGAAAAG	0.606																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1350_1352delCAA	17.37:g.42636406_42636408delCAA	ENSP00000323901:p.Lys451del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG82	In_Frame_Del	DEL	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.K451in_frame_del	ENST00000315323.3	37	c.1350_1352	CCDS11484.1	17																																																																																			FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.606	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	48	0.00	0	CAA	NM_001466		42636406	42636408	+1	no_errors	ENST00000315323	ensembl	human	known	69_37n	in_frame_del	41	18.87	10	DEL	1.000:1.000:1.000	-
FZD2	2535	genome.wustl.edu	37	17	42636411	42636411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:42636411delC	ENST00000315323.3	+	1	1487	c.1355delC	c.(1354-1356)accfs	p.T452fs		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	452					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCACCAAGACCGAAAAGCTG	0.612																																						dbGAP											0													105.0	90.0	95.0					17																	42636411		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1355delC	17.37:g.42636411delC	ENSP00000323901:p.Thr452fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG82	Frame_Shift_Del	DEL	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.E453fs	ENST00000315323.3	37	c.1355	CCDS11484.1	17																																																																																			FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.612	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	52	0.00	0	C	NM_001466		42636411	42636411	+1	no_errors	ENST00000315323	ensembl	human	known	69_37n	frame_shift_del	41	20.75	11	DEL	1.000	-
GRB7	2886	genome.wustl.edu	37	17	37899449	37899449	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:37899449C>A	ENST00000309156.4	+	5	737	c.480C>A	c.(478-480)gaC>gaA	p.D160E	GRB7_ENST00000394209.2_Missense_Mutation_p.D160E|GRB7_ENST00000394211.3_Missense_Mutation_p.D160E|GRB7_ENST00000309185.3_Missense_Mutation_p.D160E|GRB7_ENST00000394204.1_Missense_Mutation_p.D160E|GRB7_ENST00000445327.2_Missense_Mutation_p.D183E|GRB7_ENST00000578702.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	160	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTTGGAGGACCACGAGTCCG	0.572																																						dbGAP											0													64.0	68.0	66.0					17																	37899449		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.480C>A	17.37:g.37899449C>A	ENSP00000310771:p.Asp160Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.D183E	ENST00000309156.4	37	c.549	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988849	0.35131	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	4.89	3.89	0.44902	Ras-association (3);	0.046799	0.85682	D	0.000000	T	0.40171	0.1106	M	0.79123	2.44	0.80722	D	1	D;P	0.53312	0.959;0.917	P;P	0.56960	0.703;0.81	T	0.32322	-0.9911	10	0.59425	D	0.04	-38.6316	12.5751	0.56359	0.0:0.916:0.0:0.084	.	160;160	Q14451-2;Q14451	.;GRB7_HUMAN	E	160;160;160;160;183;160	ENSP00000311752:D160E;ENSP00000310771:D160E;ENSP00000377761:D160E;ENSP00000377759:D160E;ENSP00000403459:D183E;ENSP00000377754:D160E	ENSP00000310771:D160E	D	+	3	2	GRB7	35152975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.887000	0.28254	2.551000	0.86045	0.561000	0.74099	GAC	GRB7	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000141738		0.572	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	60	0.00	0	C	NM_005310		37899449	37899449	+1	no_errors	ENST00000445327	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	1.000	A
GRM1	2911	genome.wustl.edu	37	6	146350685	146350685	+	Missense_Mutation	SNP	C	C	T	rs377264022		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:146350685C>T	ENST00000282753.1	+	1	267	c.32C>T	c.(31-33)gCg>gTg	p.A11V	GRM1_ENST00000507907.1_Missense_Mutation_p.A11V|GRM1_ENST00000492807.2_Missense_Mutation_p.A11V|GRM1_ENST00000361719.2_Missense_Mutation_p.A11V|GRM1_ENST00000355289.4_Missense_Mutation_p.A11V|GRM1_ENST00000392299.2_Missense_Mutation_p.A11V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	11					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTTTTCCCAGCGATCTTTTTG	0.627																																						dbGAP											0													107.0	124.0	119.0					6																	146350685		2202	4300	6502	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.32C>T	6.37:g.146350685C>T	ENSP00000282753:p.Ala11Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.A11V	ENST00000282753.1	37	c.32	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.011151	0.00422	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87334	-2.19;-2.23;-2.23;-2.19;-2.24;-2.23	5.41	4.53	0.55603	.	0.443069	0.24180	N	0.040812	T	0.59307	0.2184	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.45877	-0.9231	10	0.02654	T	1	.	9.6367	0.39811	0.0:0.8387:0.0:0.1613	.	11;11;6;11	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	11	ENSP00000354896:A11V;ENSP00000376119:A11V;ENSP00000424095:A11V;ENSP00000282753:A11V;ENSP00000347437:A11V;ENSP00000425599:A11V	ENSP00000282753:A11V	A	+	2	0	GRM1	146392378	0.893000	0.30496	0.805000	0.32314	0.068000	0.16541	2.015000	0.40961	1.259000	0.44117	0.555000	0.69702	GCG	GRM1	-	prints_GPCR_3_mtglu_rcpt_1	ENSG00000152822		0.627	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	79	0.00	0	C	NM_000838		146350685	146350685	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.005	T
GRM1	2911	genome.wustl.edu	37	6	146720677	146720677	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:146720677G>C	ENST00000282753.1	+	7	2737	c.2502G>C	c.(2500-2502)aaG>aaC	p.K834N	GRM1_ENST00000507907.1_Missense_Mutation_p.K834N|GRM1_ENST00000492807.2_Missense_Mutation_p.K834N|GRM1_ENST00000361719.2_Missense_Mutation_p.K834N|GRM1_ENST00000355289.4_Missense_Mutation_p.K834N|GRM1_ENST00000392299.2_Missense_Mutation_p.K834N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	834					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCACTCCCAAGATGTACATCA	0.507																																						dbGAP											0													131.0	106.0	114.0					6																	146720677		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2502G>C	6.37:g.146720677G>C	ENSP00000282753:p.Lys834Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.K834N	ENST00000282753.1	37	c.2502	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962523	0.74016	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.98773	1.0729	10	0.87932	D	0	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	834;834;834	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	N	834	ENSP00000354896:K834N;ENSP00000376119:K834N;ENSP00000424095:K834N;ENSP00000282753:K834N;ENSP00000347437:K834N;ENSP00000425599:K834N	ENSP00000282753:K834N	K	+	3	2	GRM1	146762370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.984000	0.88150	2.686000	0.91538	0.585000	0.79938	AAG	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000152822		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	92	0.00	0	G	NM_000838		146720677	146720677	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	1.000	C
GYG2	8908	genome.wustl.edu	37	X	2795452	2795452	+	Intron	SNP	A	A	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:2795452A>C	ENST00000381163.3	+	11	1626				GYG2_ENST00000542787.1_Intron|GYG2_ENST00000398806.3_Intron|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000338623.5_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTCAGCCTCATTTAACAAAA	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1344+104A>C	X.37:g.2795452A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNN6|O15485|O15486|O15487|O15489|O15490	RNA	SNP	-	NULL	ENST00000381163.3	37	NULL	CCDS14121.1	X																																																																																			GYG2	-	-	ENSG00000056998		0.507	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	73	0.00	0	A	NM_003918		2795452	2795452	+1	no_errors	ENST00000453106	ensembl	human	known	69_37n	rna	46	36.99	27	SNP	0.000	C
HOXA7	3204	genome.wustl.edu	37	7	27194355	27194355	+	3'UTR	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:27194355G>T	ENST00000242159.3	-	0	999				RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TTGGGAGCTGGAGTAGGTGAT	0.502																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.*173C>A	7.37:g.27194355G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	RNA	SNP	-	NULL	ENST00000242159.3	37	NULL	CCDS5408.1	7																																																																																			HOXA-AS3	-	-	ENSG00000254369		0.502	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA-AS3	HGNC	protein_coding	OTTHUMT00000358695.1	19	0.00	0	G			27194355	27194355	+1	no_errors	ENST00000518947	ensembl	human	known	69_37n	rna	13	38.10	8	SNP	0.004	T
HRAS	3265	genome.wustl.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												dbGAP	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	256	Substitution - Missense(256)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)											117.0	102.0	107.0					11																	533874		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61L	ENST00000451590.1	37	c.182	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG	HRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000174775		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2	62	0.00	0	T	NM_176795		533874	533874	-1	no_errors	ENST00000311189	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	1.000	A
HRH1	3269	genome.wustl.edu	37	3	11301811	11301811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:11301811C>A	ENST00000397056.1	+	3	1279	c.1088C>A	c.(1087-1089)tCa>tAa	p.S363*	HRH1_ENST00000438284.2_Nonsense_Mutation_p.S363*|HRH1_ENST00000431010.2_Nonsense_Mutation_p.S363*	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	363					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.S363L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGAACGGACTCAGATACCACC	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)											137.0	121.0	126.0					3																	11301811		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1088C>A	3.37:g.11301811C>A	ENSP00000380247:p.Ser363*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K047|Q6P9E5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.S363*	ENST00000397056.1	37	c.1088	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187213	0.38609	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	.	.	.	5.94	4.17	0.49024	.	0.834821	0.10886	N	0.623234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0883	8.2997	0.32006	0.0:0.7352:0.1273:0.1374	.	.	.	.	X	363	.	ENSP00000380247:S363X	S	+	2	0	HRH1	11276811	0.038000	0.19896	0.624000	0.29186	0.006000	0.05464	0.586000	0.23894	0.869000	0.35703	0.561000	0.74099	TCA	HRH1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196639		0.517	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	29	0.00	0	C			11301811	11301811	+1	no_errors	ENST00000397056	ensembl	human	known	69_37n	nonsense	11	62.07	18	SNP	0.035	A
HSD3B1	3283	genome.wustl.edu	37	1	120050204	120050204	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:120050204G>C	ENST00000369413.3	+	2	250	c.105G>C	c.(103-105)ttG>ttC	p.L35F	HSD3B1_ENST00000528909.1_Missense_Mutation_p.L35F|HSD3B1_ENST00000235547.6_Missense_Mutation_p.L37F			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	35					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TCAGGGTCTTGGACAAGGCCT	0.522																																						dbGAP											0													171.0	145.0	154.0					1																	120050204		2203	4300	6503	-	-	-	SO:0001583	missense	0			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.105G>C	1.37:g.120050204G>C	ENSP00000358421:p.Leu35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.L37F	ENST00000369413.3	37	c.111	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193904	0.38707	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	2.91	1.98	0.26296	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.167565	0.40640	N	0.001055	T	0.80199	0.4579	L	0.46157	1.445	0.45183	D	0.998192	D;D	0.89917	0.985;1.0	P;D	0.97110	0.873;1.0	T	0.75833	-0.3178	10	0.19147	T	0.46	-3.8471	5.5056	0.16852	0.1624:0.0:0.8376:0.0	.	37;35	Q5TDG2;P14060	.;3BHS1_HUMAN	F	35;35;37;35	ENSP00000435999:L35F;ENSP00000358421:L35F;ENSP00000235547:L37F;ENSP00000432268:L35F	ENSP00000235547:L37F	L	+	3	2	HSD3B1	119851727	1.000000	0.71417	0.894000	0.35097	0.647000	0.38526	0.855000	0.27805	0.417000	0.25871	0.313000	0.20887	TTG	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	ENSG00000203857		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	117	0.00	0	G	NM_000862		120050204	120050204	+1	no_errors	ENST00000235547	ensembl	human	known	69_37n	missense	61	34.41	32	SNP	0.974	C
IGLV2-14	28815	genome.wustl.edu	37	22	23101555	23101555	+	RNA	SNP	A	A	C	rs372979635		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr22:23101555A>C	ENST00000390312.2	+	0	250				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		CTCATGATTTATGAGGTCAGT	0.542																																						dbGAP											0													170.0	182.0	178.0					22																	23101555		1870	4101	5971	-	-	-			0			Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101555A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y70S	ENST00000390312.2	37	c.209		22																																																																																			IGLV2-14	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211666		0.542	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV2-14	HGNC	IG_V_gene	OTTHUMT00000321840.1	113	0.00	0	A	NG_000002		23101555	23101555	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390312	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	0.017	C
IL1RL1	9173	genome.wustl.edu	37	2	102955408	102955408	+	Missense_Mutation	SNP	C	C	A	rs140931129	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:102955408C>A	ENST00000233954.1	+	3	444	c.173C>A	c.(172-174)cCc>cAc	p.P58H	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000311734.2_Missense_Mutation_p.P58H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P58H|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P58H|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	58	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAAAGTATTCCCACTCAGGAA	0.418																																						dbGAP											0													193.0	195.0	194.0					2																	102955408		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.173C>A	2.37:g.102955408C>A	ENSP00000233954:p.Pro58His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.P58H	ENST00000233954.1	37	c.173	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900822	0.72754	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.03	4.2	0.49525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.570809	0.18563	N	0.137567	T	0.76234	0.3959	M	0.64170	1.965	0.18873	N	0.999983	D;D	0.76494	0.999;0.999	D;D	0.70227	0.946;0.968	T	0.65817	-0.6076	10	0.66056	D	0.02	.	8.349	0.32290	0.0:0.7625:0.1555:0.0819	.	58;58	Q01638-2;Q01638	.;ILRL1_HUMAN	H	58	ENSP00000233954:P58H;ENSP00000377052:P58H;ENSP00000310371:P58H;ENSP00000386618:P58H	ENSP00000233954:P58H	P	+	2	0	IL1RL1	102321840	0.000000	0.05858	0.001000	0.08648	0.412000	0.31113	0.585000	0.23879	0.845000	0.35118	0.655000	0.94253	CCC	IL1RL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000115602		0.418	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	51	0.00	0	C	NM_016232		102955408	102955408	+1	no_errors	ENST00000233954	ensembl	human	known	69_37n	missense	30	37.50	18	SNP	0.002	A
IL1RL1	9173	genome.wustl.edu	37	2	102965550	102965550	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:102965550T>A	ENST00000233954.1	+	10	1400	c.1129T>A	c.(1129-1131)Tat>Aat	p.Y377N		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	377	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAAGCTCTATGATGCTTA	0.398																																						dbGAP											0													149.0	138.0	142.0					2																	102965550		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1129T>A	2.37:g.102965550T>A	ENSP00000233954:p.Tyr377Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.Y377N	ENST00000233954.1	37	c.1129	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973109	0.74246	.	.	ENSG00000115602	ENST00000233954	T	0.03689	3.84	5.19	5.19	0.71726	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.242940	0.35235	N	0.003350	T	0.23965	0.0580	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05500	-1.0881	10	0.87932	D	0	.	13.9047	0.63826	0.0:0.0:0.0:1.0	.	377	Q01638	ILRL1_HUMAN	N	377	ENSP00000233954:Y377N	ENSP00000233954:Y377N	Y	+	1	0	IL1RL1	102331982	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.437000	0.66544	2.077000	0.62373	0.377000	0.23210	TAT	IL1RL1	-	superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1	ENSG00000115602		0.398	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	78	0.00	0	T	NM_016232		102965550	102965550	+1	no_errors	ENST00000233954	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	1.000	A
ITIH1	3697	genome.wustl.edu	37	3	52818385	52818385	+	Silent	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:52818385G>C	ENST00000273283.2	+	11	1323	c.1299G>C	c.(1297-1299)ctG>ctC	p.L433L	ITIH1_ENST00000537050.1_Silent_p.L145L|ITIH1_ENST00000542827.1_Silent_p.L433L|ITIH1_ENST00000540715.1_Silent_p.L291L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	433	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCTACAACCTGGGTTTCGGCC	0.577																																						dbGAP											0													91.0	82.0	85.0					3																	52818385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1299G>C	3.37:g.52818385G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L433	ENST00000273283.2	37	c.1299	CCDS2864.1	3																																																																																			ITIH1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000055957		0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	64	0.00	0	G	NM_002215		52818385	52818385	+1	no_errors	ENST00000273283	ensembl	human	known	69_37n	silent	48	20.00	12	SNP	0.999	C
IVL	3713	genome.wustl.edu	37	1	152882825	152882825	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:152882825G>C	ENST00000368764.3	+	2	616	c.552G>C	c.(550-552)gaG>gaC	p.E184D	IVL_ENST00000392667.2_Missense_Mutation_p.E38D			P07476	INVO_HUMAN	involucrin	184	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagctggagctcccagagc	0.672																																						dbGAP											0													9.0	10.0	9.0					1																	152882825		2183	4269	6452	-	-	-	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.552G>C	1.37:g.152882825G>C	ENSP00000357753:p.Glu184Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.E184D	ENST00000368764.3	37	c.552	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563654	0.13498	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10099	3.1;2.91	3.68	-2.87	0.05700	.	.	.	.	.	T	0.03520	0.0101	M	0.64997	1.995	0.09310	N	1	B	0.20780	0.048	B	0.22601	0.04	T	0.43572	-0.9383	9	0.23891	T	0.37	.	9.003	0.36094	0.6049:0.0:0.3951:0.0	.	184	P07476	INVO_HUMAN	D	184;38	ENSP00000357753:E184D;ENSP00000376435:E38D	ENSP00000357753:E184D	E	+	3	2	IVL	151149449	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.853000	0.00350	-0.410000	0.07542	0.436000	0.28706	GAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.672	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	33	0.00	0	G	NM_005547		152882825	152882825	+1	no_errors	ENST00000368764	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	0.000	C
JMJD7	100137047	genome.wustl.edu	37	15	42127178	42127178	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr15:42127178G>C	ENST00000397299.4	+	3	269	c.229G>C	c.(229-231)Ggc>Cgc	p.G77R	JMJD7_ENST00000408047.1_5'UTR|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G77R|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.G77R|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G77R	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	77										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						AGCCACAGTGGGCTCCACAGA	0.617																																						dbGAP											0													90.0	91.0	91.0					15																	42127178		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.229G>C	15.37:g.42127178G>C	ENSP00000380467:p.Gly77Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.G77R	ENST00000397299.4	37	c.229	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	17.43	3.388682	0.61956	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.75	4.75	0.60458	.	0.000000	0.52532	D	0.000061	D	0.87728	0.6250	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.89885	0.4033	10	0.72032	D	0.01	-12.338	17.7453	0.88419	0.0:0.0:1.0:0.0	.	77;77;77	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	R	77	ENSP00000380467:G77R;ENSP00000441905:G77R;ENSP00000371886:G77R;ENSP00000342785:G77R	ENSP00000380467:G77R	G	+	1	0	JMJD7-PLA2G4B;JMJD7	39914470	1.000000	0.71417	0.830000	0.32933	0.085000	0.17905	9.336000	0.96533	2.343000	0.79666	0.655000	0.94253	GGC	JMJD7-PLA2G4B	-	NULL	ENSG00000168970		0.617	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	65	0.00	0	G	NM_001114632		42127178	42127178	+1	no_errors	ENST00000382448	ensembl	human	known	69_37n	missense	43	29.03	18	SNP	1.000	C
KCP	375616	genome.wustl.edu	37	7	128524884	128524884	+	RNA	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:128524884C>G	ENST00000476647.2	-	0	3116							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						GAAGCTCTCCCCAGGCTCGTA	0.662																																						dbGAP											0													47.0	48.0	47.0					7																	128524884		692	1591	2283	-	-	-			0			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128524884C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBE0	RNA	SNP	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-	ENSG00000135253		0.662	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	58	0.00	0	C	NM_199349		128524884	128524884	-1	no_errors	ENST00000297801	ensembl	human	known	69_37n	rna	28	33.33	14	SNP	1.000	G
KDM4B	23030	genome.wustl.edu	37	19	5150386	5150386	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:5150386G>A	ENST00000159111.4	+	22	3257	c.3039G>A	c.(3037-3039)ggG>ggA	p.G1013G	KDM4B_ENST00000536461.1_Silent_p.G1047G	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1013	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTGAGGACGGGTCCCAGCTGA	0.672																																						dbGAP											0													67.0	50.0	55.0					19																	5150386		2075	4039	6114	-	-	-	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.3039G>A	19.37:g.5150386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.G1013	ENST00000159111.4	37	c.3039	CCDS12138.1	19																																																																																			KDM4B	-	smart_Tudor	ENSG00000127663		0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	109	0.00	0	G	NM_015015		5150386	5150386	+1	no_errors	ENST00000159111	ensembl	human	known	69_37n	silent	68	31.31	31	SNP	0.947	A
KRTAP10-4	386672	genome.wustl.edu	37	21	45993819	45993819	+	Missense_Mutation	SNP	C	C	T	rs233285	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr21:45993819C>T	ENST00000400374.3	+	1	214	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	62	36 X 5 AA repeats of C-C-X(3).		R -> C (in dbSNP:rs233285). {ECO:0000269|PubMed:15028290, ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCCAGTGAGCCGTGTGTCCAG	0.716													.|||	2393	0.477835	0.3064	0.4726	5008	,	,		12584	0.3968		0.6789	False		,,,				2504	0.59					dbGAP											0													15.0	26.0	22.0					21																	45993819		2028	4197	6225	-	-	-	SO:0001583	missense	0			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.184C>T	21.37:g.45993819C>T	ENSP00000383225:p.Arg62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AS0	Missense_Mutation	SNP	NULL	p.R62C	ENST00000400374.3	37	c.184	CCDS42957.1	21	1086	0.49725274725274726	166	0.33739837398373984	188	0.5193370165745856	203	0.3548951048951049	529	0.6978891820580475	N	0.023	-1.404339	0.01165	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.09350	2.99	3.29	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	N	0.00071	-2.275	0.33656	P	0.390964	B	0.19817	0.039	B	0.01281	0.0	T	0.32824	-0.9892	8	0.02654	T	1	.	6.0377	0.19716	0.0:0.2497:0.0:0.7503	rs233285;rs578587;rs4818942	62	P60372	KR104_HUMAN	C	62;51	ENSP00000383225:R62C	ENSP00000333987:R51C	R	+	1	0	KRTAP10-4	44818247	0.003000	0.15002	0.927000	0.36925	0.402000	0.30811	-0.057000	0.11768	0.291000	0.22468	-0.539000	0.04255	CGT	KRTAP10-4	-	NULL	ENSG00000215454		0.716	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	39	0.00	0	C	NM_198687		45993819	45993819	+1	no_errors	ENST00000400374	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.975	T
KRTAP5-6	440023	genome.wustl.edu	37	11	1718781	1718781	+	Silent	SNP	A	A	G	rs527835026		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:1718781A>G	ENST00000382160.1	+	1	357	c.306A>G	c.(304-306)tcA>tcG	p.S102S		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	102	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTGGGTCATCCTGCTGCC	0.607																																						dbGAP											0													108.0	124.0	119.0					11																	1718781		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.306A>G	11.37:g.1718781A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L452	Silent	SNP	NULL	p.S102	ENST00000382160.1	37	c.306	CCDS31332.1	11																																																																																			KRTAP5-6	-	NULL	ENSG00000205864		0.607	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-6	HGNC	protein_coding	OTTHUMT00000102339.2	156	0.64	1	A			1718781	1718781	+1	no_errors	ENST00000382160	ensembl	human	known	69_37n	silent	126	22.56	37	SNP	0.000	G
LCT	3938	genome.wustl.edu	37	2	136567233	136567233	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:136567233C>G	ENST00000264162.2	-	8	2694	c.2684G>C	c.(2683-2685)aGa>aCa	p.R895T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	895	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAACAAATCTCTTTCGAACTT	0.527																																						dbGAP											0													116.0	123.0	121.0					2																	136567233		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2684G>C	2.37:g.136567233C>G	ENSP00000264162:p.Arg895Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.R895T	ENST00000264162.2	37	c.2684	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910564	0.72983	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.28895	1.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.60161	-0.7317	10	0.54805	T	0.06	-21.5952	20.0139	0.97470	0.0:1.0:0.0:0.0	.	895	P09848	LPH_HUMAN	T	895;327	ENSP00000264162:R895T	ENSP00000264162:R895T	R	-	2	0	LCT	136283703	0.994000	0.37717	1.000000	0.80357	0.579000	0.36224	3.952000	0.56691	2.724000	0.93272	0.563000	0.77884	AGA	LCT	-	NULL	ENSG00000115850		0.527	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	55	0.00	0	C	NM_002299		136567233	136567233	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	51	36.59	30	SNP	1.000	G
LGR5	8549	genome.wustl.edu	37	12	71978452	71978452	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:71978452C>A	ENST00000266674.5	+	18	2973	c.2662C>A	c.(2662-2664)Cca>Aca	p.P888T	LGR5_ENST00000540815.2_Missense_Mutation_p.P864T|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.P816T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	888					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CGTGCCATCACCAGCTTATCC	0.453																																						dbGAP											0													138.0	130.0	133.0					12																	71978452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2662C>A	12.37:g.71978452C>A	ENSP00000266674:p.Pro888Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.P888T	ENST00000266674.5	37	c.2662	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	3.454	-0.111300	0.06881	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.56941	0.5;0.43;0.57	5.82	0.373	0.16178	.	0.396843	0.24599	N	0.037141	T	0.30135	0.0755	N	0.22421	0.69	0.19300	N	0.999978	B;B	0.26845	0.161;0.1	B;B	0.24394	0.053;0.024	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.0293	0.06102	0.105:0.4042:0.1028:0.3881	.	864;888	O75473-2;O75473	.;LGR5_HUMAN	T	888;816;864	ENSP00000266674:P888T;ENSP00000443033:P816T;ENSP00000441035:P864T	ENSP00000266674:P888T	P	+	1	0	LGR5	70264719	0.000000	0.05858	0.016000	0.15963	0.145000	0.21501	-0.541000	0.06099	0.027000	0.15297	0.585000	0.79938	CCA	LGR5	-	NULL	ENSG00000139292		0.453	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	41	0.00	0	C	NM_003667		71978452	71978452	+1	no_errors	ENST00000266674	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	0.070	A
LIMS1	3987	genome.wustl.edu	37	2	109292433	109292433	+	Silent	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:109292433G>T	ENST00000393310.1	+	6	761	c.594G>T	c.(592-594)cgG>cgT	p.R198R	LIMS1_ENST00000332345.6_Silent_p.R198R|LIMS1_ENST00000542845.1_Silent_p.R260R|LIMS1_ENST00000409441.1_Silent_p.R235R|LIMS1_ENST00000338045.3_Silent_p.R198R|LIMS1_ENST00000410093.1_Silent_p.R202R|LIMS1_ENST00000544547.1_Silent_p.R210R|AC010095.5_ENST00000411710.1_RNA	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	198	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CTTGCCGACGGCCCATCGAAG	0.552																																						dbGAP											0													48.0	42.0	44.0					2																	109292433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.594G>T	2.37:g.109292433G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	p.R260	ENST00000393310.1	37	c.780	CCDS2078.1	2																																																																																			LIMS1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM	ENSG00000169756		0.552	LIMS1-001	KNOWN	basic|CCDS	protein_coding	LIMS1	HGNC	protein_coding	OTTHUMT00000253596.1	144	0.00	0	G	NM_004987		109292433	109292433	+1	no_errors	ENST00000542845	ensembl	human	known	69_37n	silent	156	22.77	46	SNP	0.998	T
LRP1	4035	genome.wustl.edu	37	12	57600403	57600403	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:57600403G>A	ENST00000243077.3	+	76	12204	c.11738G>A	c.(11737-11739)cGt>cAt	p.R3913H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3913					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAGGCTGGCCGTGTCTATTGG	0.612																																						dbGAP											0													216.0	132.0	161.0					12																	57600403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11738G>A	12.37:g.57600403G>A	ENSP00000243077:p.Arg3913His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R3913H	ENST00000243077.3	37	c.11738	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420677	0.62622	.	.	ENSG00000123384	ENST00000243077	D	0.91792	-2.91	5.07	5.07	0.68467	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.072221	0.56097	D	0.000034	D	0.83220	0.5207	L	0.33293	1	0.80722	D	1	D	0.53151	0.958	B	0.38327	0.271	T	0.79412	-0.1814	10	0.16420	T	0.52	.	7.7856	0.29091	0.1703:0.0:0.8297:0.0	.	3913	Q07954	LRP1_HUMAN	H	3913	ENSP00000243077:R3913H	ENSP00000243077:R3913H	R	+	2	0	LRP1	55886670	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	6.123000	0.71614	2.793000	0.96121	0.655000	0.94253	CGT	LRP1	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	111	0.00	0	G	NM_002332		57600403	57600403	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	73	25.25	25	SNP	0.994	A
LRRC4	64101	genome.wustl.edu	37	7	127670327	127670327	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:127670327C>G	ENST00000249363.3	-	2	624	c.367G>C	c.(367-369)Gcc>Ccc	p.A123P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	123					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TTGAGGCTGGCCAGGCCGTTG	0.622																																						dbGAP											0													59.0	65.0	63.0					7																	127670327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.367G>C	7.37:g.127670327C>G	ENSP00000249363:p.Ala123Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A123P	ENST00000249363.3	37	c.367	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757117	0.15846	.	.	ENSG00000128594	ENST00000249363;ENST00000494115	T;T	0.54479	4.43;0.57	4.66	4.66	0.58398	.	0.156674	0.42548	D	0.000681	T	0.28101	0.0693	N	0.02765	-0.5	0.45690	D	0.998607	B	0.06786	0.001	B	0.08055	0.003	T	0.11542	-1.0583	10	0.17832	T	0.49	.	15.09	0.72185	0.0:1.0:0.0:0.0	.	123	Q9HBW1	LRRC4_HUMAN	P	123;41	ENSP00000249363:A123P;ENSP00000418254:A41P	ENSP00000249363:A123P	A	-	1	0	LRRC4	127457563	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.710000	0.61873	2.373000	0.80994	0.655000	0.94253	GCC	LRRC4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000128594		0.622	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	101	0.00	0	C	NM_022143		127670327	127670327	-1	no_errors	ENST00000249363	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	1.000	G
MAOB	4129	genome.wustl.edu	37	X	43656376	43656376	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:43656376C>A	ENST00000378069.4	-	6	761	c.614G>T	c.(613-615)gGa>gTa	p.G205V	MAOB_ENST00000536181.1_Missense_Mutation_p.G189V|MAOB_ENST00000538942.1_Missense_Mutation_p.G189V|MAOB_ENST00000487544.1_5'Flank	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	205					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)	p.G205A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GGGTACCTGTCCTCCATTTGT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											128.0	112.0	117.0					X																	43656376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.614G>T	X.37:g.43656376C>A	ENSP00000367309:p.Gly205Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.G205V	ENST00000378069.4	37	c.614	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671230	0.67814	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.12255	2.7;2.7;2.7	5.45	5.45	0.79879	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50980	-0.8763	10	0.31617	T	0.26	-21.0623	18.3829	0.90457	0.0:1.0:0.0:0.0	.	189;205	B7Z5H3;P27338	.;AOFB_HUMAN	V	205;189;189	ENSP00000367309:G205V;ENSP00000441613:G189V;ENSP00000442240:G189V	ENSP00000367309:G205V	G	-	2	0	MAOB	43541320	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.146000	0.77373	2.282000	0.76494	0.544000	0.68410	GGA	MAOB	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase	ENSG00000069535		0.468	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	55	0.00	0	C	NM_000898		43656376	43656376	-1	no_errors	ENST00000378069	ensembl	human	known	69_37n	missense	105	17.97	23	SNP	1.000	A
MAPT	4137	genome.wustl.edu	37	17	44055647	44055647	+	Intron	SNP	A	A	T	rs754512	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:44055647A>T	ENST00000571987.1	+	4	307				MAPT_ENST00000344290.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Nonsense_Mutation_p.K3*			P10636	TAU_HUMAN	microtubule-associated protein tau						adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTGAATGTTTAAGGGAAAATG	0.438													T|||	437	0.0872604	0.0189	0.1571	5008	,	,		20992	0.001		0.2406	False		,,,				2504	0.0613					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.308-94A>T	17.37:g.44055647A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Nonsense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.K3*	ENST00000571987.1	37	c.7	CCDS11501.1	17																																																																																			MAPT	-	NULL	ENSG00000186868		0.438	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	29	0.00	0	A	NM_016835		44055647	44055647	+1	no_errors	ENST00000576518	ensembl	human	putative	69_37n	nonsense	33	10.81	4	SNP	0.000	T
MCFD2	90411	genome.wustl.edu	37	2	47132590	47132590	+	3'UTR	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:47132590G>A	ENST00000409105.1	-	0	632				MCFD2_ENST00000409218.1_3'UTR|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409800.1_3'UTR|MCFD2_ENST00000409207.1_3'UTR|MCFD2_ENST00000493804.1_5'UTR|MCFD2_ENST00000409147.1_3'UTR|MCFD2_ENST00000409913.1_3'UTR|MCFD2_ENST00000409973.1_3'UTR|MCFD2_ENST00000319466.4_3'UTR|MCFD2_ENST00000444761.2_3'UTR	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CCAGGAGATGGCCAAATAACA	0.348																																						dbGAP											0													189.0	151.0	164.0					2																	47132590		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.*12C>T	2.37:g.47132590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	RNA	SNP	-	NULL	ENST00000409105.1	37	NULL	CCDS33192.1	2																																																																																			MCFD2	-	-	ENSG00000180398		0.348	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	HGNC	protein_coding	OTTHUMT00000329518.1	54	0.00	0	G	NM_139279		47132590	47132590	-1	no_errors	ENST00000470873	ensembl	human	putative	69_37n	rna	95	19.49	23	SNP	0.001	A
MIA3	375056	genome.wustl.edu	37	1	222835811	222835811	+	Intron	SNP	C	C	T	rs533752424		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:222835811C>T	ENST00000344922.5	+	26	5287				MIA3_ENST00000340535.7_Intron|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Intron|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAACTGTTCTCCAAGAGCCTG	0.408																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5262+137C>T	1.37:g.222835811C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	RNA	SNP	-	NULL	ENST00000344922.5	37	NULL	CCDS41470.1	1																																																																																			MIA3	-	-	ENSG00000154305		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	10	0.00	0	C	NM_198551		222835811	222835811	+1	no_errors	ENST00000479370	ensembl	human	putative	69_37n	rna	8	50.00	8	SNP	0.989	T
MMP16	4325	genome.wustl.edu	37	8	89131087	89131087	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:89131087T>A	ENST00000286614.6	-	5	994	c.713A>T	c.(712-714)aAt>aTt	p.N238I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	238					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AAATAAGTCATTTCCTGTGTG	0.368																																						dbGAP											0													81.0	77.0	79.0					8																	89131087		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.713A>T	8.37:g.89131087T>A	ENSP00000286614:p.Asn238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.N238I	ENST00000286614.6	37	c.713	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148469	0.78001	.	.	ENSG00000156103	ENST00000286614	T	0.19250	2.16	5.34	5.34	0.76211	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.78314	0.991;0.889	T	0.03829	-1.1000	10	0.23891	T	0.37	.	15.3172	0.74089	0.0:0.0:0.0:1.0	.	238;238	P51512-2;P51512	.;MMP16_HUMAN	I	238	ENSP00000286614:N238I	ENSP00000286614:N238I	N	-	2	0	MMP16	89200203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.013000	0.59113	0.455000	0.32223	AAT	MMP16	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	82	0.00	0	T	NM_005941		89131087	89131087	-1	no_errors	ENST00000286614	ensembl	human	known	69_37n	missense	129	16.77	26	SNP	1.000	A
MORC1	27136	genome.wustl.edu	37	3	108723919	108723919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:108723919G>A	ENST00000483760.1	-	18	1991	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.Q671*					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATAATACCTGGGATCTCTCA	0.333																																						dbGAP											0													88.0	91.0	90.0					3																	108723919		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1948C>T	3.37:g.108723919G>A	ENSP00000417282:p.Gln650*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.Q671*	ENST00000483760.1	37	c.2011		3	.	.	.	.	.	.	.	.	.	.	G	38	7.258160	0.98168	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	4.31	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.4887	9.5922	0.39552	0.0:0.0:0.7917:0.2083	.	.	.	.	X	671;650	.	ENSP00000232603:Q671X	Q	-	1	0	MORC1	110206609	0.985000	0.35326	0.967000	0.41034	0.899000	0.52679	1.528000	0.35985	1.368000	0.46115	0.460000	0.39030	CAG	MORC1	-	NULL	ENSG00000114487		0.333	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	37	0.00	0	G			108723919	108723919	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	nonsense	28	22.22	8	SNP	0.966	A
MPP7	143098	genome.wustl.edu	37	10	28409186	28409186	+	Missense_Mutation	SNP	G	G	C	rs148466123		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr10:28409186G>C	ENST00000375732.1	-	10	1083	c.824C>G	c.(823-825)gCg>gGg	p.A275G	MPP7_ENST00000445954.2_Missense_Mutation_p.A150G|MPP7_ENST00000337532.5_Missense_Mutation_p.A275G|MPP7_ENST00000375719.3_Missense_Mutation_p.A275G|MPP7_ENST00000540098.1_Missense_Mutation_p.A275G			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	275	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTCGTGTTTCGCTTGCCACCA	0.463																																						dbGAP											0													134.0	118.0	124.0					10																	28409186		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.824C>G	10.37:g.28409186G>C	ENSP00000364884:p.Ala275Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A275G	ENST00000375732.1	37	c.824	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260800	0.80246	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.71	5.71	0.89125	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87691	0.2554	10	0.51188	T	0.08	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	275	Q5T2T1	MPP7_HUMAN	G	275;275;275;275;150	ENSP00000364884:A275G;ENSP00000337907:A275G;ENSP00000438693:A275G;ENSP00000364871:A275G;ENSP00000405397:A150G	ENSP00000337907:A275G	A	-	2	0	MPP7	28449192	1.000000	0.71417	0.963000	0.40424	0.329000	0.28539	6.731000	0.74785	2.852000	0.98041	0.643000	0.83706	GCG	MPP7	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	ENSG00000150054		0.463	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	49	0.00	0	G	NM_173496		28409186	28409186	-1	no_errors	ENST00000337532	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	C
MPZL1	9019	genome.wustl.edu	37	1	167734870	167734870	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:167734870G>C	ENST00000359523.2	+	2	344	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L	MPZL1_ENST00000474859.1_Missense_Mutation_p.V48L|MPZL1_ENST00000392121.3_Missense_Mutation_p.V48L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	48	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGAAATCTTCGTGGCAAATGG	0.478																																						dbGAP											0													82.0	77.0	79.0					1																	167734870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.142G>C	1.37:g.167734870G>C	ENSP00000352513:p.Val48Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.V48L	ENST00000359523.2	37	c.142	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391585	0.62066	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.95412	-0.43;-3.7;-0.43;-0.43	4.79	3.85	0.44370	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.368951	0.27345	N	0.019796	D	0.92420	0.7594	M	0.82517	2.595	0.45852	D	0.998715	P;P;P	0.46457	0.878;0.783;0.708	B;B;B	0.42422	0.35;0.35;0.387	D	0.90843	0.4725	9	0.48119	T	0.1	.	8.5656	0.33538	0.078:0.0:0.7682:0.1538	.	48;48;48	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	L	48;48;48;22	ENSP00000352513:V48L;ENSP00000375968:V48L;ENSP00000420455:V48L;ENSP00000356827:V22L	ENSP00000352513:V48L	V	+	1	0	MPZL1	166001494	0.999000	0.42202	0.952000	0.39060	0.974000	0.67602	2.540000	0.45727	1.297000	0.44761	0.655000	0.94253	GTG	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000197965		0.478	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	33	0.00	0	G	NM_024569		167734870	167734870	+1	no_errors	ENST00000359523	ensembl	human	known	69_37n	missense	27	46.00	23	SNP	0.998	C
MYH8	4626	genome.wustl.edu	37	17	10300034	10300034	+	Splice_Site	SNP	A	A	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:10300034A>T	ENST00000403437.2	-	32	4458	c.4364T>A	c.(4363-4365)gTc>gAc	p.V1455D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1455					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTGATAGGACCTGAAAAGC	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													105.0	107.0	106.0					17																	10300034		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4363-1T>A	17.37:g.10300034A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1455D	ENST00000403437.2	37	c.4364	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409809	0.83340	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82255	-1.59	5.26	5.26	0.73747	Myosin tail (1);	0.198203	0.24456	U	0.038362	D	0.83617	0.5293	M	0.75264	2.295	0.58432	D	0.999999	B	0.10296	0.003	B	0.23275	0.045	T	0.81450	-0.0927	10	0.56958	D	0.05	.	15.3476	0.74350	1.0:0.0:0.0:0.0	.	1455	P13535	MYH8_HUMAN	D	1455	ENSP00000384330:V1455D	ENSP00000252173:V1455D	V	-	2	0	MYH8	10240759	0.988000	0.35896	1.000000	0.80357	0.860000	0.49131	8.874000	0.92363	2.215000	0.71742	0.528000	0.53228	GTC	MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	37	0.00	0	A	NM_002472	Missense_Mutation	10300034	10300034	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26422417	26422417	+	Missense_Mutation	SNP	C	C	G	rs551422380		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr22:26422417C>G	ENST00000407587.2	+	43	6649	c.6480C>G	c.(6478-6480)aaC>aaG	p.N2160K	MYO18B_ENST00000536101.1_Missense_Mutation_p.N2159K|MYO18B_ENST00000335473.7_Missense_Mutation_p.N2159K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2159						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACAGGATAAACGAAGAGGCTG	0.498																																						dbGAP											0													120.0	130.0	127.0					22																	26422417		1882	4112	5994	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6480C>G	22.37:g.26422417C>G	ENSP00000386096:p.Asn2160Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N2159K	ENST00000407587.2	37	c.6477		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.12|11.12	1.544821|1.544821	0.27563|0.27563	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86769|.	-2.15;-2.15;-2.17|.	5.48|5.48	-11.0|-11.0	0.00169|0.00169	.|.	0.486350|.	0.15286|.	N|.	0.270436|.	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P;B;B;B|.	0.35401|.	0.491;0.499;0.011;0.019;0.019|.	B;B;B;B;B|.	0.29716|.	0.098;0.106;0.007;0.016;0.016|.	T|T	0.10019|0.10019	-1.0648|-1.0648	10|5	0.35671|.	T|.	0.21|.	.|.	1.2254|1.2254	0.01932|0.01932	0.1625:0.2947:0.2038:0.339|0.1625:0.2947:0.2038:0.339	.|.	1672;2161;2159;2160;2159|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	K|R	2159;2159;2160|109	ENSP00000441229:N2159K;ENSP00000334563:N2159K;ENSP00000386096:N2160K|.	ENSP00000334563:N2159K|.	N|T	+|+	3|2	2|0	MYO18B|MYO18B	24752417|24752417	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.450000|-1.450000	0.02390|0.02390	-3.493000|-3.493000	0.00153|0.00153	-2.613000|-2.613000	0.00159|0.00159	AAC|ACG	MYO18B	-	NULL	ENSG00000133454		0.498	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	29	0.00	0	C	NM_032608		26422417	26422417	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	47	20.34	12	SNP	0.000	G
NEFM	4741	genome.wustl.edu	37	8	24771591	24771591	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:24771591G>A	ENST00000221166.5	+	1	1067	c.285G>A	c.(283-285)aaG>aaA	p.K95K	NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Silent_p.K95K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.K95K|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	95	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGACTACAAGCTGTCCCGCT	0.622																																						dbGAP											0													16.0	19.0	18.0					8																	24771591		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.285G>A	8.37:g.24771591G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.K95	ENST00000221166.5	37	c.285	CCDS6046.1	8																																																																																			NEFM	-	pfam_Intermed_filament_DNA-bd	ENSG00000104722		0.622	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	33	0.00	0	G	NM_005382		24771591	24771591	+1	no_errors	ENST00000221166	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	1.000	A
NLRP2	55655	genome.wustl.edu	37	19	55481613	55481613	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:55481613A>T	ENST00000543010.1	+	2	373	c.230A>T	c.(229-231)gAa>gTa	p.E77V	NLRP2_ENST00000391721.4_Missense_Mutation_p.E77V|NLRP2_ENST00000263437.6_Missense_Mutation_p.E77V|NLRP2_ENST00000427260.2_Missense_Mutation_p.E54V|NLRP2_ENST00000538819.1_Missense_Mutation_p.E77V|NLRP2_ENST00000448584.2_Missense_Mutation_p.E77V|NLRP2_ENST00000537859.1_Missense_Mutation_p.E77V|NLRP2_ENST00000339757.7_Missense_Mutation_p.E77V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGGTCTTTGAAAAGATGCAC	0.527																																						dbGAP											0													85.0	77.0	80.0					19																	55481613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.230A>T	19.37:g.55481613A>T	ENSP00000445135:p.Glu77Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E77V	ENST00000543010.1	37	c.230	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689348	0.29962	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T;T	0.60548	0.58;0.58;0.58;0.58;0.58;0.58;0.18;0.58;0.58	1.88	-0.4	0.12411	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.65523	0.2699	M	0.68317	2.08	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.79108	0.893;0.967;0.987;0.967;0.992	T	0.52837	-0.8522	9	0.48119	T	0.1	.	1.6856	0.02841	0.5264:0.0:0.185:0.2886	.	54;77;77;77;77	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	77;77;77;77;77;77;54;77;77	ENSP00000443519:E77V;ENSP00000445135:E77V;ENSP00000375601:E77V;ENSP00000344074:E77V;ENSP00000409370:E77V;ENSP00000440601:E77V;ENSP00000402474:E54V;ENSP00000441133:E77V;ENSP00000263437:E77V	ENSP00000263437:E77V	E	+	2	0	NLRP2	60173425	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.568000	0.05909	-0.159000	0.11021	-0.425000	0.05940	GAA	NLRP2	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000022556		0.527	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	43	0.00	0	A	NM_017852		55481613	55481613	+1	no_errors	ENST00000448584	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.002	T
NOTCH2	4853	genome.wustl.edu	37	1	120491104	120491104	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:120491104G>A	ENST00000256646.2	-	17	2904	c.2685C>T	c.(2683-2685)taC>taT	p.Y895Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	895	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCACACATGTAGCTGCCCT	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													141.0	119.0	127.0					1																	120491104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2685C>T	1.37:g.120491104G>A		Somatic	1504	WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Y895	ENST00000256646.2	37	c.2685	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	79	0.00	0	G	NM_024408		120491104	120491104	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	silent	133	11.92	18	SNP	1.000	A
NWD1	284434	genome.wustl.edu	37	19	16923622	16923622	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:16923622T>A	ENST00000552788.1	+	17	4354	c.4354T>A	c.(4354-4356)Tta>Ata	p.L1452I	NWD1_ENST00000523826.1_Missense_Mutation_p.L1246I|NWD1_ENST00000549814.1_Missense_Mutation_p.L1410I|NWD1_ENST00000379808.3_Intron|NWD1_ENST00000524140.2_Intron|NWD1_ENST00000339803.6_Missense_Mutation_p.L1317I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1452							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTACGTGGGCTTAAAGGATCG	0.448																																						dbGAP											0													301.0	247.0	265.0					19																	16923622		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4354T>A	19.37:g.16923622T>A	ENSP00000447224:p.Leu1452Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1317I	ENST00000552788.1	37	c.3949		19	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385669	0.25031	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.39997	1.05;2.22;1.56;2.22	4.52	2.27	0.28462	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.34890	0.0913	.	.	.	0.20074	N	0.999931	P;P	0.38300	0.626;0.626	B;B	0.40782	0.34;0.34	T	0.12218	-1.0556	8	0.35671	T	0.21	.	8.3973	0.32564	0.3133:0.0:0.0:0.6867	.	1452;1317	Q149M9;C9J2Y8	NWD1_HUMAN;.	I	1317;1410;1246;1452;1317	ENSP00000447548:L1410I;ENSP00000428955:L1246I;ENSP00000447224:L1452I;ENSP00000340159:L1317I	ENSP00000340159:L1317I	L	+	1	2	NWD1	16784622	0.929000	0.31497	0.987000	0.45799	0.070000	0.16714	0.800000	0.27042	0.089000	0.17243	0.459000	0.35465	TTA	NWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.448	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	167	0.00	0	T	NM_001007525		16923622	16923622	+1	no_errors	ENST00000339803	ensembl	human	known	69_37n	missense	115	28.57	46	SNP	0.990	A
OTUD7B	56957	genome.wustl.edu	37	1	149915938	149915938	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:149915938C>T	ENST00000369135.4	-	12	2644	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	784					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCATCTGGCTCAGGGGGCTCT	0.567																																						dbGAP											0													62.0	65.0	64.0					1																	149915938		1901	4124	6025	-	-	-	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2350G>A	1.37:g.149915938C>T	ENSP00000358131:p.Glu784Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E784K	ENST00000369135.4	37	c.2350	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468727	0.26335	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.30182	1.54	4.75	4.75	0.60458	.	0.422961	0.26421	N	0.024470	T	0.10723	0.0262	N	0.22421	0.69	0.34334	D	0.688057	B	0.31026	0.304	B	0.29663	0.105	T	0.08953	-1.0697	9	.	.	.	-20.3022	15.6213	0.76808	0.0:1.0:0.0:0.0	.	784	Q6GQQ9	OTU7B_HUMAN	K	784	ENSP00000358131:E784K	.	E	-	1	0	OTUD7B	148182562	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	5.125000	0.64715	2.621000	0.88768	0.557000	0.71058	GAG	OTUD7B	-	NULL	ENSG00000163113		0.567	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	87	0.00	0	C	NM_020205		149915938	149915938	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	missense	162	10.50	19	SNP	1.000	T
OR2T8	343172	genome.wustl.edu	37	1	248084798	248084798	+	Missense_Mutation	SNP	C	C	T	rs61857491		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:248084798C>T	ENST00000319968.4	+	1	479	c.479C>T	c.(478-480)gCt>gTt	p.A160V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGCTGTTGCTACCCTGAGC	0.582																																						dbGAP											0													18.0	13.0	15.0					1																	248084798		2121	4216	6337	-	-	-	SO:0001583	missense	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.479C>T	1.37:g.248084798C>T	ENSP00000326225:p.Ala160Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A160V	ENST00000319968.4	37	c.479	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580282	0.03854	.	.	ENSG00000177462	ENST00000319968	T	0.00031	8.89	3.56	-0.703	0.11261	GPCR, rhodopsin-like superfamily (1);	1.056520	0.07586	U	0.921099	T	0.00073	0.0002	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.16289	0.015	T	0.25222	-1.0138	10	0.05525	T	0.97	.	1.2313	0.01943	0.1461:0.3205:0.1438:0.3896	.	160	A6NH00	OR2T8_HUMAN	V	160	ENSP00000326225:A160V	ENSP00000326225:A160V	A	+	2	0	OR2T8	246151421	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.032000	0.03574	-0.059000	0.13154	0.404000	0.27445	GCT	OR2T8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177462		0.582	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	12	0.00	0	C	NM_001005522		248084798	248084798	+1	no_errors	ENST00000319968	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.000	T
OR2M7	391196	genome.wustl.edu	37	1	248487708	248487708	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:248487708G>T	ENST00000317965.2	-	1	191	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGGTGTGGAGCTGGGTATCC	0.537																																						dbGAP											0													301.0	285.0	291.0					1																	248487708		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.163C>A	1.37:g.248487708G>T	ENSP00000324557:p.Leu55Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L55I	ENST00000317965.2	37	c.163	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	G	8.205	0.798991	0.16397	.	.	ENSG00000177186	ENST00000317965	T	0.13778	2.56	1.54	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29501	U	0.011972	T	0.43787	0.1263	H	0.96889	3.9	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34229	-0.9837	10	0.87932	D	0	.	6.7207	0.23328	0.3571:0.0:0.6429:0.0	.	55	Q8NG81	OR2M7_HUMAN	I	55	ENSP00000324557:L55I	ENSP00000324557:L55I	L	-	1	0	OR2M7	246554331	1.000000	0.71417	0.394000	0.26270	0.039000	0.13416	3.615000	0.54167	-0.703000	0.05049	-1.109000	0.02080	CTC	OR2M7	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177186		0.537	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	120	0.00	0	G	NM_001004691		248487708	248487708	-1	no_errors	ENST00000317965	ensembl	human	known	69_37n	missense	197	15.45	36	SNP	0.336	T
PHEX	5251	genome.wustl.edu	37	X	22132593	22132593	+	Silent	SNP	A	A	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:22132593A>C	ENST00000379374.4	+	11	1756	c.1191A>C	c.(1189-1191)acA>acC	p.T397T	PHEX_ENST00000418858.3_Silent_p.T100T|PHEX_ENST00000535894.1_Silent_p.T300T|PHEX_ENST00000537599.1_Silent_p.T397T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	397					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AGGGGACCACAACTTTGCTGC	0.388																																						dbGAP											0													158.0	137.0	144.0					X																	22132593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1191A>C	X.37:g.22132593A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T397	ENST00000379374.4	37	c.1191	CCDS14204.1	X																																																																																			PHEX	-	pfam_Peptidase_M13_N	ENSG00000102174		0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	102	0.00	0	A	NM_000444		22132593	22132593	+1	no_errors	ENST00000379374	ensembl	human	known	69_37n	silent	73	26.26	26	SNP	0.990	C
PIK3R4	30849	genome.wustl.edu	37	3	130427331	130427331	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:130427331C>T	ENST00000356763.3	-	10	2894	c.2337G>A	c.(2335-2337)atG>atA	p.M779I		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	779					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTTCCTCTGTCATTCCCTAAA	0.358																																						dbGAP											0													135.0	125.0	128.0					3																	130427331		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2337G>A	3.37:g.130427331C>T	ENSP00000349205:p.Met779Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M779I	ENST00000356763.3	37	c.2337	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024616	0.54683	.	.	ENSG00000196455	ENST00000356763;ENST00000508273	T;T	0.51071	1.02;0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.43152	1.355	0.80722	D	1	B	0.17268	0.021	B	0.17722	0.019	T	0.24476	-1.0159	10	0.21540	T	0.41	-21.0453	19.2501	0.93921	0.0:1.0:0.0:0.0	.	779	Q99570	PI3R4_HUMAN	I	779;138	ENSP00000349205:M779I;ENSP00000427302:M138I	ENSP00000349205:M779I	M	-	3	0	PIK3R4	131910021	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.406000	0.80017	2.545000	0.85829	0.563000	0.77884	ATG	PIK3R4	-	NULL	ENSG00000196455		0.358	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	53	0.00	0	C	NM_014602		130427331	130427331	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	T
PILRB	29990	genome.wustl.edu	37	7	99933732	99933732	+	5'Flank	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:99933732G>C	ENST00000610247.1	+	0	0				STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|STAG3L5P_ENST00000493499.1_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGCAGCAGGGTCAGAAGG	0.612																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363		7.37:g.99933732G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YF9|Q9HBS0	RNA	SNP	-	NULL	ENST00000610247.1	37	NULL	CCDS43622.1	7																																																																																			PILRB	-	-	ENSG00000121716		0.612	PILRB-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding		140	0.00	0	G	NM_178238		99933732	99933732	+1	no_errors	ENST00000470714	ensembl	human	known	69_37n	rna	117	29.52	49	SNP	0.011	C
PLCH2	9651	genome.wustl.edu	37	1	2418615	2418615	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:2418615T>C	ENST00000419816.2	+	7	1188	c.914T>C	c.(913-915)tTc>tCc	p.F305S	PLCH2_ENST00000378486.3_Missense_Mutation_p.F305S|PLCH2_ENST00000378488.3_Missense_Mutation_p.F305S|PLCH2_ENST00000449969.1_Missense_Mutation_p.F278S|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	305					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTGCAGGCTTCACCAACTAC	0.602																																						dbGAP											0													45.0	49.0	48.0					1																	2418615		2175	4270	6445	-	-	-	SO:0001583	missense	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.914T>C	1.37:g.2418615T>C	ENSP00000389803:p.Phe305Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F305S	ENST00000419816.2	37	c.914		1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935586	0.52866	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.72615	-0.67;-0.67;-0.67	4.7	4.7	0.59300	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.056962	0.64402	D	0.000001	D	0.87740	0.6253	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.982;0.997	D	0.90904	0.4771	10	0.87932	D	0	.	13.3223	0.60440	0.0:0.0:0.0:1.0	.	152;93;278;305	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	S	278;305;305;152;93	ENSP00000397289:F278S;ENSP00000367747:F305S;ENSP00000367749:F305S	ENSP00000278878:F93S	F	+	2	0	PLCH2	2408475	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.782000	0.85680	1.744000	0.51775	0.459000	0.35465	TTC	PLCH2	-	pfam_PLipase_C_EF-hand-like	ENSG00000149527		0.602	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	60	0.00	0	T	NM_014638		2418615	2418615	+1	no_errors	ENST00000378486	ensembl	human	known	69_37n	missense	100	15.25	18	SNP	1.000	C
PLIN5	440503	genome.wustl.edu	37	19	4529581	4529582	+	Intron	DEL	TA	TA	-			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:4529581_4529582delTA	ENST00000381848.3	-	4	420				CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5						lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						tacttatacgtatatatacata	0.267																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.339+213TA>-	19.37:g.4529587_4529588delTA		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC1|Q6ZS68	Frame_Shift_Del	DEL	pfam_Perilipin	p.I119fs	ENST00000381848.3	37	c.357_356	CCDS42473.1	19																																																																																			PLIN5	-	NULL	ENSG00000214456		0.267	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	27	0.00	0	TA	NM_001013706		4529581	4529582	-1	no_stop_codon	ENST00000588887	ensembl	human	putative	69_37n	frame_shift_del	15	16.67	3	DEL	0.001:0.002	-
PRC1	9055	genome.wustl.edu	37	15	91537757	91537757	+	5'UTR	SNP	C	C	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr15:91537757C>G	ENST00000361188.5	-	0	1102				PRC1_ENST00000361919.3_5'UTR|PRC1_ENST00000394249.3_5'Flank|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000442656.2_5'Flank					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGCCGCTCCGCGAGCCGTTGA	0.657																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.-110G>C	15.37:g.91537757C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000361188.5	37	NULL	CCDS45352.1	15																																																																																			PRC1	-	-	ENSG00000198901		0.657	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	HGNC	protein_coding	OTTHUMT00000414760.1	101	0.00	0	C	NM_003981		91537757	91537757	-1	no_errors	ENST00000555745	ensembl	human	known	69_37n	rna	59	35.48	33	SNP	0.034	G
PTPRB	5787	genome.wustl.edu	37	12	70925902	70925902	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:70925902G>A	ENST00000261266.5	-	30	5792	c.5763C>T	c.(5761-5763)ctC>ctT	p.L1921L	RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Silent_p.L1831L|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Silent_p.L2139L|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Silent_p.L1831L|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.L1831L|PTPRB_ENST00000550358.1_Silent_p.L2051L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1921	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTAACTGCTGGAGGATTCGGT	0.448																																						dbGAP											0													122.0	117.0	119.0					12																	70925902		1944	4140	6084	-	-	-	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5763C>T	12.37:g.70925902G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L2139	ENST00000261266.5	37	c.6417	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000127329		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	45	0.00	0	G			70925902	70925902	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	25	60.94	39	SNP	0.766	A
PXDNL	137902	genome.wustl.edu	37	8	52366254	52366254	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:52366254G>T	ENST00000356297.4	-	10	1174	c.1074C>A	c.(1072-1074)caC>caA	p.H358Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.H358Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	358	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGATAAGAGGGTGTGGGTGGC	0.507																																						dbGAP											0													113.0	113.0	113.0					8																	52366254		2014	4176	6190	-	-	-	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1074C>A	8.37:g.52366254G>T	ENSP00000348645:p.His358Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.H358Q	ENST00000356297.4	37	c.1074	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	0	-2.736360	0.00088	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.64260	-0.09;-0.09	4.0	-5.25	0.02781	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17959	0.0431	N	0.00686	-1.255	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.27606	-1.0069	9	0.06494	T	0.89	.	1.6594	0.02788	0.299:0.3779:0.1819:0.1412	.	358	A1KZ92	PXDNL_HUMAN	Q	358	ENSP00000348645:H358Q;ENSP00000444865:H358Q	ENSP00000348645:H358Q	H	-	3	2	PXDNL	52528807	0.078000	0.21339	0.000000	0.03702	0.011000	0.07611	-0.790000	0.04604	-0.786000	0.04516	-1.070000	0.02257	CAC	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147485		0.507	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	113	0.00	0	G	NM_144651		52366254	52366254	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	missense	153	18.95	36	SNP	0.119	T
PYHIN1	149628	genome.wustl.edu	37	1	158913631	158913631	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:158913631A>C	ENST00000368140.1	+	6	1299	c.1054A>C	c.(1054-1056)Agt>Cgt	p.S352R	PYHIN1_ENST00000392254.2_Missense_Mutation_p.S352R|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S343R|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S343R	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	352	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TAAAACAGGAAGTATGGCTGT	0.358																																						dbGAP											0													85.0	86.0	86.0					1																	158913631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1054A>C	1.37:g.158913631A>C	ENSP00000357122:p.Ser352Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.S352R	ENST00000368140.1	37	c.1054	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	7.110	0.575737	0.13623	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	3.13	1.99	0.26369	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.02418	0.0074	L	0.27053	0.805	0.23806	N	0.996794	B;B;B;B	0.29232	0.2;0.12;0.2;0.238	B;B;B;B	0.25506	0.047;0.061;0.047;0.05	T	0.45160	-0.9280	9	0.30854	T	0.27	.	4.9377	0.13948	0.8513:0.0:0.1487:0.0	.	343;352;343;352	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	R	352;343;352;343	ENSP00000357122:S352R;ENSP00000357120:S343R;ENSP00000376083:S352R;ENSP00000376082:S343R	ENSP00000357120:S343R	S	+	1	0	PYHIN1	157180255	0.000000	0.05858	0.143000	0.22291	0.005000	0.04900	-0.013000	0.12678	0.401000	0.25424	0.533000	0.62120	AGT	PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.358	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	32	0.00	0	A	NM_152501		158913631	158913631	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.365	C
RIMS1	22999	genome.wustl.edu	37	6	73110263	73110263	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:73110263G>C	ENST00000521978.1	+	34	4926	c.4926G>C	c.(4924-4926)ttG>ttC	p.L1642F	RIMS1_ENST00000517960.1_Missense_Mutation_p.L1425F|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1241F|RIMS1_ENST00000425662.2_Missense_Mutation_p.L710F|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1491F|RIMS1_ENST00000348717.5_Missense_Mutation_p.L1425F|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1431F|RIMS1_ENST00000401910.3_Missense_Mutation_p.L962F|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1292F|RIMS1_ENST00000414192.2_Missense_Mutation_p.L169F|RIMS1_ENST00000538414.1_Missense_Mutation_p.L448F|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.L1321F|RIMS1_ENST00000523963.1_Missense_Mutation_p.L767F|RIMS1_ENST00000517827.1_Missense_Mutation_p.L776F	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1642					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCAGATCTTGTTGGAAGAAC	0.522																																						dbGAP											0													143.0	149.0	147.0					6																	73110263		2137	4271	6408	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4926G>C	6.37:g.73110263G>C	ENSP00000428417:p.Leu1642Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L1642F	ENST00000521978.1	37	c.4926	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.86|15.86|15.86	2.959159|2.959159|2.959159	0.53400|0.53400|0.53400	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.76448|.	.|-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02|.	5.21|5.21|5.21	0.739|0.739|0.739	0.18324|0.18324|0.18324	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	.|0.293803|.	.|0.19331|.	.|N|.	.|0.116886|.	T|T|T	0.36110|0.36110|0.36110	0.0955|0.0955|0.0955	L|L|L	0.48642|0.48642|0.48642	1.525|1.525|1.525	0.41991|0.41991|0.41991	D|D|D	0.99084|0.99084|0.99084	.|B;B;D;P;D;B;B;D;D;B;B;B;D|.	.|0.76494|.	.|0.024;0.019;0.999;0.86;0.999;0.134;0.009;0.996;0.999;0.016;0.184;0.06;0.999|.	.|B;B;D;B;D;B;B;P;D;B;B;B;D|.	.|0.81914|.	.|0.012;0.012;0.995;0.385;0.986;0.07;0.003;0.885;0.986;0.012;0.026;0.03;0.986|.	T|T|T	0.21484|0.21484|0.21484	-1.0244|-1.0244|-1.0244	5|10|5	.|0.48119|.	.|T|.	.|0.1|.	-6.6181|-6.6181|-6.6181	5.3358|5.3358|5.3358	0.15957|0.15957|0.15957	0.3284:0.0:0.4941:0.1775|0.3284:0.0:0.4941:0.1775|0.3284:0.0:0.4941:0.1775	.|.|.	.|266;448;776;767;1491;962;1241;545;1321;1425;718;1431;1642|.	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	S|F|L	560|1431;1491;1431;1425;1321;1241;1491;1425;1321;1292;1241;1642;962;767;710;776;690;448;169|988	.|ENSP00000430101:L1431F;ENSP00000275037:L1425F;ENSP00000264839:L1491F;ENSP00000429959:L1425F;ENSP00000430408:L1321F;ENSP00000430502:L1292F;ENSP00000430932:L1241F;ENSP00000428417:L1642F;ENSP00000385649:L962F;ENSP00000428328:L767F;ENSP00000411235:L710F;ENSP00000428367:L776F;ENSP00000359448:L690F;ENSP00000439730:L448F;ENSP00000402273:L169F|.	.|ENSP00000264839:L1491F|.	C|L|V	+|+|+	2|3|1	0|2|0	RIMS1|RIMS1|RIMS1	73166984|73166984|73166984	0.984000|0.984000|0.984000	0.35163|0.35163|0.35163	0.977000|0.977000|0.977000	0.42913|0.42913|0.42913	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	0.592000|0.592000|0.592000	0.23984|0.23984|0.23984	0.294000|0.294000|0.294000	0.22547|0.22547|0.22547	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TGT|TTG|GTT	RIMS1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000079841		0.522	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	134	0.00	0	G			73110263	73110263	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	94	15.93	18	SNP	0.439	C
RP1	6101	genome.wustl.edu	37	8	55538327	55538327	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:55538327G>T	ENST00000220676.1	+	4	2033	c.1885G>T	c.(1885-1887)Gct>Tct	p.A629S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	629					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTCTGAGGCTCCAGCTTC	0.358																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													42.0	46.0	44.0					8																	55538327		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1885G>T	8.37:g.55538327G>T	ENSP00000220676:p.Ala629Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A629S	ENST00000220676.1	37	c.1885	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	4.556	0.103198	0.08731	.	.	ENSG00000104237	ENST00000220676	T	0.33865	1.39	5.67	1.14	0.20703	.	0.633651	0.14651	N	0.306571	T	0.19525	0.0469	L	0.29908	0.895	0.09310	N	1	P	0.35077	0.483	B	0.27887	0.084	T	0.13818	-1.0495	10	0.59425	D	0.04	.	3.5537	0.07857	0.1948:0.4973:0.1795:0.1283	.	629	P56715	RP1_HUMAN	S	629	ENSP00000220676:A629S	ENSP00000220676:A629S	A	+	1	0	RP1	55700880	0.005000	0.15991	0.004000	0.12327	0.134000	0.20937	-0.041000	0.12084	0.195000	0.20347	0.591000	0.81541	GCT	RP1	-	NULL	ENSG00000104237		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	35	0.00	0	G	NM_006269		55538327	55538327	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	0.000	T
RPGR	6103	genome.wustl.edu	37	X	38145735	38145735	+	Intron	SNP	T	T	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:38145735T>C	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Silent_p.E839E			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccctccccttcctcctctt	0.597													T|||	24	0.00635762	0.0061	0.0043	3775	,	,		4590	0.0		0.004	False		,,,				2504	0.0092					dbGAP											0													56.0	40.0	46.0					X																	38145735		1739	3378	5117	-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+611A>G	X.37:g.38145735T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E839	ENST00000339363.3	37	c.2517		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.597	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		9	0.00	0	T	NM_000328		38145735	38145735	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	0.005	C
RTL1	388015	genome.wustl.edu	37	14	101350112	101350112	+	Silent	SNP	T	T	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr14:101350112T>A	ENST00000534062.1	-	1	1072	c.1014A>T	c.(1012-1014)ctA>ctT	p.L338L	MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	338					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGACCCGGAATAGATAGTGCC	0.562																																						dbGAP											0													72.0	69.0	70.0					14																	101350112		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1014A>T	14.37:g.101350112T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Silent	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.L338	ENST00000534062.1	37	c.1014	CCDS53910.1	14																																																																																			RTL1	-	NULL	ENSG00000254656		0.562	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	37	0.00	0	T	NM_001134888		101350112	101350112	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	silent	33	32.65	16	SNP	0.997	A
RTN4RL2	349667	genome.wustl.edu	37	11	57236242	57236242	+	Splice_Site	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:57236242G>A	ENST00000533205.1	+	3	522		c.e3-1		RTN4RL2_ENST00000335099.3_Intron					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCTCAATGCAGGGGAAGAAAG	0.423																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.514-1G>A	11.37:g.57236242G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e3-1	ENST00000533205.1	37	c.514-1		11	.	.	.	.	.	.	.	.	.	.	G	2.487	-0.318373	0.05386	.	.	ENSG00000186907	ENST00000533205	.	.	.	3.18	-3.03	0.05429	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.42	0.11476	0.3072:0.3067:0.386:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RTN4RL2	56992818	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.243000	0.08915	-0.677000	0.05231	-0.302000	0.09304	.	RTN4RL2	-	-	ENSG00000186907		0.423	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392538.1	23	0.00	0	G	NM_178570	Intron	57236242	57236242	+1	no_errors	ENST00000533205	ensembl	human	putative	69_37n	splice_site	25	19.35	6	SNP	0.000	A
SELENBP1	8991	genome.wustl.edu	37	1	151338791	151338791	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:151338791C>T	ENST00000368868.5	-	7	894	c.803G>A	c.(802-804)tGc>tAc	p.C268Y	SELENBP1_ENST00000426705.2_Missense_Mutation_p.C310Y|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.C204Y|SELENBP1_ENST00000447402.3_Missense_Mutation_p.C206Y	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	268					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGTGCGCAGCCCACAAA	0.567																																						dbGAP											0													130.0	131.0	131.0					1																	151338791		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.803G>A	1.37:g.151338791C>T	ENSP00000357861:p.Cys268Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	pfam_Se-bd	p.C268Y	ENST00000368868.5	37	c.803	CCDS995.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.679506|3.679506	0.68042|0.68042	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	.|T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;2.56;2.56	4.45|4.45	4.45|4.45	0.53987|0.53987	.|WD40/YVTN repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57725|0.57725	0.2073|0.2073	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;0.997;1.0;0.995;1.0;0.993;0.991;0.997	.|D;D;D;D;D;D;P;D	.|0.87578	.|0.998;0.992;0.992;0.981;0.992;0.976;0.861;0.967	T|T	0.69383|0.69383	-0.5160|-0.5160	5|10	.|0.87932	.|D	.|0	-14.1768|-14.1768	15.8566|15.8566	0.78983|0.78983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|206;310;228;252;204;121;204;268	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;Q9H8A8;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;.;SBP1_HUMAN	T|Y	229|268;206;204;252;310	.|ENSP00000357861:C268Y;ENSP00000413960:C206Y;ENSP00000408263:C204Y;ENSP00000406222:C252Y;ENSP00000397261:C310Y	.|ENSP00000357861:C268Y	A|C	-|-	1|2	0|0	SELENBP1|SELENBP1	149605415|149605415	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.426000|0.426000	0.31534|0.31534	7.307000|7.307000	0.78920|0.78920	2.309000|2.309000	0.77851|0.77851	0.514000|0.514000	0.50259|0.50259	GCG|TGC	SELENBP1	-	pfam_Se-bd	ENSG00000143416		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELENBP1	HGNC	protein_coding	OTTHUMT00000034904.4	65	0.00	0	C			151338791	151338791	-1	no_errors	ENST00000368868	ensembl	human	known	69_37n	missense	111	21.28	30	SNP	1.000	T
SEMA6A	57556	genome.wustl.edu	37	5	115782397	115782397	+	Missense_Mutation	SNP	C	C	A	rs200942463	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr5:115782397C>A	ENST00000343348.6	-	19	3792	c.3005G>T	c.(3004-3006)cGt>cTt	p.R1002L	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R1002L|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R479L|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R429L|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R1019L|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R381L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	1002					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.R1002H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGAGGGCGTACGCTTCAGCCC	0.597																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											29.0	32.0	31.0					5																	115782397		2109	4232	6341	-	-	-	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.3005G>T	5.37:g.115782397C>A	ENSP00000345512:p.Arg1002Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.R1019L	ENST00000343348.6	37	c.3056	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.800745|2.800745	0.50315|0.50315	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263|ENST00000515129	T;T;T;T;T;T|.	0.60040|.	1.71;1.72;0.22;2.14;0.27;1.71|.	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	1.000120|.	0.08080|.	N|.	1.000000|.	T|T	0.66925|0.66925	0.2839|0.2839	L|L	0.47190|0.47190	1.495|1.495	0.53688|0.53688	D|D	0.999971|0.999971	D;P;D;P;D;D|.	0.69078|.	0.987;0.91;0.992;0.872;0.997;0.987|.	D;B;P;P;D;D|.	0.76575|.	0.988;0.337;0.694;0.518;0.987;0.988|.	T|T	0.65142|0.65142	-0.6240|-0.6240	10|5	0.87932|.	D|.	0|.	.|.	16.6789|16.6789	0.85286|0.85286	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	381;1002;546;1019;479;429|.	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01|.	.;SEM6A_HUMAN;.;.;.;.|.	L|L	1002;1019;429;479;381;1002|517	ENSP00000345512:R1002L;ENSP00000257414:R1019L;ENSP00000422997:R429L;ENSP00000282394:R479L;ENSP00000425364:R381L;ENSP00000424388:R1002L|.	ENSP00000257414:R1019L|.	R|V	-|-	2|1	0|0	SEMA6A|SEMA6A	115810296|115810296	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.915000|0.915000	0.54546|0.54546	5.494000|5.494000	0.66905|0.66905	2.254000|2.254000	0.74563|0.74563	0.462000|0.462000	0.41574|0.41574	CGT|GTA	SEMA6A	-	NULL	ENSG00000092421		0.597	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	76	0.00	0	C	NM_020796		115782397	115782397	-1	no_errors	ENST00000257414	ensembl	human	known	69_37n	missense	79	10.23	9	SNP	1.000	A
SH3KBP1	30011	genome.wustl.edu	37	X	19758883	19758883	+	Intron	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:19758883C>A	ENST00000397821.3	-	3	577				SH3KBP1_ENST00000379697.3_Intron|SH3KBP1_ENST00000379698.4_Intron	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ATACTTCTTTCCATCCTTTGT	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.286+5552G>T	X.37:g.19758883C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Nonsense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.E2*	ENST00000397821.3	37	c.4	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790089	0.70337	.	.	ENSG00000147010	ENST00000431164	.	.	.	4.89	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0052	0.19542	0.0:0.7033:0.0:0.2967	.	.	.	.	X	2	.	ENSP00000409292:E2X	E	-	1	0	SH3KBP1	19668804	0.000000	0.05858	0.016000	0.15963	0.248000	0.25809	-0.218000	0.09240	0.362000	0.24319	0.523000	0.50628	GAA	SH3KBP1	-	NULL	ENSG00000147010		0.453	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	39	0.00	0	C	NM_031892		19758883	19758883	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000431164	ensembl	human	known	69_37n	nonsense	101	15.83	19	SNP	0.018	A
SH3YL1	26751	genome.wustl.edu	37	2	247593	247593	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:247593G>T	ENST00000405430.1	-	6	612	c.236C>A	c.(235-237)gCa>gAa	p.A79E	SH3YL1_ENST00000402632.1_Missense_Mutation_p.A79E|SH3YL1_ENST00000356150.5_Missense_Mutation_p.A79E|SH3YL1_ENST00000403712.2_Missense_Mutation_p.A79E|SH3YL1_ENST00000403658.1_5'UTR|SH3YL1_ENST00000403657.1_5'UTR|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	79					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		GGCTGAGGGTGCAGACCATTC	0.403																																						dbGAP											0													101.0	85.0	90.0					2																	247593		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.236C>A	2.37:g.247593G>T	ENSP00000384269:p.Ala79Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	p.A79E	ENST00000405430.1	37	c.236		2	.	.	.	.	.	.	.	.	.	.	G	32	5.113258	0.94339	.	.	ENSG00000035115	ENST00000403712;ENST00000405430;ENST00000356150;ENST00000451005;ENST00000431160;ENST00000402632	T;T;T;T	0.27402	1.84;1.67;1.67;1.75	6.12	6.12	0.99158	.	0.166936	0.52532	D	0.000070	T	0.66208	0.2766	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72033	-0.4412	10	0.87932	D	0	-34.1656	18.3341	0.90282	0.0:0.0:1.0:0.0	.	79;79	Q96HL8-2;Q96HL8	.;SH3Y1_HUMAN	E	79;79;79;54;78;79	ENSP00000384276:A79E;ENSP00000384269:A79E;ENSP00000348471:A79E;ENSP00000416312:A54E	ENSP00000348471:A79E	A	-	2	0	SH3YL1	237593	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	8.631000	0.90991	2.932000	0.99384	0.644000	0.83932	GCA	SH3YL1	-	NULL	ENSG00000035115		0.403	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SH3YL1	HGNC	protein_coding	OTTHUMT00000322352.1	34	0.00	0	G	NM_015677		247593	247593	-1	no_errors	ENST00000356150	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
SHCBP1L	81626	genome.wustl.edu	37	1	182908338	182908338	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:182908338A>T	ENST00000367547.3	-	5	1285	c.1049T>A	c.(1048-1050)cTg>cAg	p.L350Q	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.L231Q	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	422										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCACATTTTCAGTAATCCACA	0.343																																						dbGAP											0													79.0	77.0	78.0					1																	182908338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1049T>A	1.37:g.182908338A>T	ENSP00000356518:p.Leu350Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.L350Q	ENST00000367547.3	37	c.1049	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705132	0.68615	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.61627	0.09;0.1	5.12	5.12	0.69794	.	0.000000	0.41823	D	0.000802	T	0.67487	0.2898	L	0.52126	1.63	0.42926	D	0.994301	D;D;D	0.67145	0.993;0.977;0.996	P;P;P	0.62813	0.809;0.847;0.907	T	0.71394	-0.4606	10	0.87932	D	0	-2.8686	12.447	0.55657	1.0:0.0:0.0:0.0	.	422;231;350	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Q	350;419;231	ENSP00000356518:L350Q;ENSP00000397308:L231Q	ENSP00000287709:L419Q	L	-	2	0	SHCBP1L	181174961	1.000000	0.71417	0.890000	0.34922	0.947000	0.59692	5.453000	0.66645	1.929000	0.55896	0.460000	0.39030	CTG	SHCBP1L	-	NULL	ENSG00000157060		0.343	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	20	0.00	0	A	NM_030933		182908338	182908338	-1	no_errors	ENST00000367547	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.981	T
SKA1	220134	genome.wustl.edu	37	18	47917634	47917634	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr18:47917634T>G	ENST00000285116.3	+	6	801	c.590T>G	c.(589-591)tTt>tGt	p.F197C	SKA1_ENST00000488454.1_Missense_Mutation_p.F46C|SKA1_ENST00000398452.2_Missense_Mutation_p.F197C|SKA1_ENST00000417656.2_Missense_Mutation_p.F151C	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	197					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TATCACAGATTTATTGATGAA	0.323																																						dbGAP											0													63.0	65.0	64.0					18																	47917634		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.590T>G	18.37:g.47917634T>G	ENSP00000285116:p.Phe197Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y6|B4E0P4	Missense_Mutation	SNP	pfam_DUF1395	p.F197C	ENST00000285116.3	37	c.590	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752468	0.69533	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.52526	0.66;0.66;0.66	6.02	6.02	0.97574	.	0.045941	0.85682	D	0.000000	T	0.66376	0.2783	M	0.75264	2.295	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.70332	-0.4901	10	0.87932	D	0	-15.747	9.74	0.40413	0.154:0.0:0.0:0.8459	.	151;197	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	C	197;151;197	ENSP00000285116:F197C;ENSP00000397222:F151C;ENSP00000381470:F197C	ENSP00000285116:F197C	F	+	2	0	SKA1	46171632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.872000	0.63050	2.311000	0.77944	0.533000	0.62120	TTT	SKA1	-	pfam_DUF1395	ENSG00000154839		0.323	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	HGNC	protein_coding	OTTHUMT00000255982.2	39	0.00	0	T	NM_145060		47917634	47917634	+1	no_errors	ENST00000285116	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	G
SLC12A5	57468	genome.wustl.edu	37	20	44681599	44681599	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr20:44681599T>A	ENST00000454036.2	+	19	2499	c.2450T>A	c.(2449-2451)cTg>cAg	p.L817Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L794Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	817					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCTCAGAGCTGGTCCGGGAA	0.612																																						dbGAP											0													59.0	53.0	55.0					20																	44681599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2450T>A	20.37:g.44681599T>A	ENSP00000387694:p.Leu817Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L817Q	ENST00000454036.2	37	c.2450	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	t	15.02	2.708878	0.48517	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.82711	-1.64;-1.64	4.49	4.49	0.54785	.	0.279181	0.29822	N	0.011104	T	0.77398	0.4124	L	0.38838	1.175	0.80722	D	1	B;P	0.35894	0.155;0.526	B;B	0.38264	0.141;0.269	T	0.78802	-0.2061	10	0.52906	T	0.07	.	13.1106	0.59270	0.0:0.0:0.0:1.0	.	817;794	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	817;794	ENSP00000387694:L817Q;ENSP00000243964:L794Q	ENSP00000243964:L794Q	L	+	2	0	SLC12A5	44115006	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.668000	0.46816	1.871000	0.54225	0.454000	0.30748	CTG	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	94	0.00	0	T			44681599	44681599	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	48	42.86	36	SNP	1.000	A
SLC25A34	284723	genome.wustl.edu	37	1	16063204	16063204	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:16063204C>A	ENST00000294454.5	+	1	305	c.224C>A	c.(223-225)gCc>gAc	p.A75D	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	75					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGGCTGCCGGCCTTCTG	0.657																																						dbGAP											0													19.0	23.0	22.0					1																	16063204		2198	4295	6493	-	-	-	SO:0001583	missense	0			BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.224C>A	1.37:g.16063204C>A	ENSP00000294454:p.Ala75Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DV0	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A75D	ENST00000294454.5	37	c.224	CCDS162.1	1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526126	0.44969	.	.	ENSG00000162461	ENST00000294454	T	0.80738	-1.41	3.92	3.92	0.45320	Mitochondrial carrier domain (2);	0.071392	0.56097	D	0.000033	D	0.92818	0.7716	H	0.97077	3.935	0.42852	D	0.994088	D	0.67145	0.996	D	0.75020	0.985	D	0.95571	0.8638	10	0.87932	D	0	.	16.0579	0.80817	0.0:1.0:0.0:0.0	.	75	Q6PIV7	S2534_HUMAN	D	75	ENSP00000294454:A75D	ENSP00000294454:A75D	A	+	2	0	SLC25A34	15935791	0.993000	0.37304	0.555000	0.28281	0.004000	0.04260	3.086000	0.50159	2.147000	0.66899	0.563000	0.77884	GCC	SLC25A34	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000162461		0.657	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A34	HGNC	protein_coding	OTTHUMT00000008467.1	51	0.00	0	C	NM_207348		16063204	16063204	+1	no_errors	ENST00000294454	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.734	A
SLC26A5	375611	genome.wustl.edu	37	7	103033383	103033383	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:103033383G>C	ENST00000306312.3	-	10	1363	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q331E|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q368E|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q368E|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q368E|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q368E|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q368E|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q368E|SLC26A5_ENST00000354356.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	368					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Q368K(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCGTCAACCTGGTAGCCATGT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											266.0	215.0	232.0					7																	103033383		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1102C>G	7.37:g.103033383G>C	ENSP00000304783:p.Gln368Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q368E	ENST00000306312.3	37	c.1102	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676998	0.29783	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.67	5.67	0.87782	Sulphate transporter (1);	0.272836	0.42682	D	0.000674	T	0.80649	0.4663	N	0.04063	-0.285	0.80722	D	1	B;B;B;B	0.21753	0.002;0.043;0.06;0.06	B;B;B;B	0.17098	0.017;0.013;0.007;0.007	T	0.75741	-0.3211	10	0.28530	T	0.3	.	9.739	0.40406	0.0:0.1303:0.6772:0.1925	.	368;368;368;368	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	E	368;368;368;368;368;331;368;368	ENSP00000342396:Q368E;ENSP00000377336:Q368E;ENSP00000304783:Q368E;ENSP00000377331:Q368E;ENSP00000389733:Q368E;ENSP00000377330:Q331E;ENSP00000377328:Q368E;ENSP00000377324:Q368E	ENSP00000304783:Q368E	Q	-	1	0	SLC26A5	102820619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.238000	0.58688	2.672000	0.90937	0.655000	0.94253	CAG	SLC26A5	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000170615		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	110	0.00	0	G	NM_198999		103033383	103033383	-1	no_errors	ENST00000306312	ensembl	human	known	69_37n	missense	77	23.76	24	SNP	1.000	C
SLC35G5	83650	genome.wustl.edu	37	8	11189535	11189535	+	Missense_Mutation	SNP	T	T	A	rs12681991	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:11189535T>A	ENST00000382435.4	+	1	1139	c.920T>A	c.(919-921)cTt>cAt	p.L307H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	307	EamA 2.		L -> P (in dbSNP:rs12681991).			integral component of membrane (GO:0016021)											ACTGTGGCACTTTCTGACATC	0.567																																						dbGAP											0													111.0	83.0	93.0					8																	11189535		2203	4294	6497	-	-	-	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.920T>A	8.37:g.11189535T>A	ENSP00000371872:p.Leu307His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.L307H	ENST00000382435.4	37	c.920	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	N	3.041	-0.197477	0.06259	.	.	ENSG00000177710	ENST00000382435	T	0.56941	0.43	.	.	.	.	0.000000	0.44285	D	0.000470	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	T	0.19386	-1.0307	9	0.13108	T	0.6	-0.9117	3.9397	0.09321	0.0:0.3343:0.0:0.6657	.	307	Q96KT7	S35G5_HUMAN	H	307	ENSP00000371872:L307H	ENSP00000371872:L307H	L	+	2	0	SLC35G5	11226945	0.000000	0.05858	0.059000	0.19551	0.059000	0.15707	0.155000	0.16362	-2.094000	0.00854	-2.075000	0.00382	CTT	SLC35G5	-	pfam_DMT	ENSG00000177710		0.567	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	152	0.00	0	T	NM_054028		11189535	11189535	+1	no_errors	ENST00000382435	ensembl	human	known	69_37n	missense	144	20.35	46	SNP	0.029	A
SLC6A10P	386757	genome.wustl.edu	37	16	32889080	32889080	+	RNA	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr16:32889080G>C	ENST00000330048.5	-	0	3555					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GCCCAGCCCAGGGCACAGGGT	0.642																																						dbGAP											0																																										-	-	-			0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32889080G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.642	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	185	0.00	0	G			32889080	32889080	-1	no_errors	ENST00000330048	ensembl	human	known	69_37n	rna	139	23.20	42	SNP	0.012	C
SLC7A2	6542	genome.wustl.edu	37	8	17412146	17412146	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr8:17412146C>A	ENST00000494857.1	+	8	1351	c.1133C>A	c.(1132-1134)gCt>gAt	p.A378D	SLC7A2_ENST00000004531.10_Missense_Mutation_p.A418D|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A378D	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	378					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAATGTCTAGCTCAAATCAAT	0.428																																						dbGAP											0													205.0	191.0	196.0					8																	17412146		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1133C>A	8.37:g.17412146C>A	ENSP00000419140:p.Ala378Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease_dom,tigrfam_Cat_AA_permease	p.A418D	ENST00000494857.1	37	c.1253	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487071	0.84854	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000004531	D;D;D	0.91124	-2.79;-2.79;-2.79	4.67	4.67	0.58626	Amino acid permease domain (1);	.	.	.	.	D	0.97123	0.9060	H	0.98407	4.225	0.80722	D	1	P;P	0.52463	0.953;0.83	P;P	0.61658	0.887;0.892	D	0.99091	1.0840	9	0.87932	D	0	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	418;378	P52569-3;P52569	.;CTR2_HUMAN	D	378;378;418	ENSP00000419140:A378D;ENSP00000430464:A378D;ENSP00000004531:A418D	ENSP00000004531:A418D	A	+	2	0	SLC7A2	17456438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.296000	0.77279	0.460000	0.39030	GCT	SLC7A2	-	pfam_AA-permease_dom,tigrfam_Cat_AA_permease	ENSG00000003989		0.428	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	95	0.00	0	C	NM_003046		17412146	17412146	+1	no_errors	ENST00000004531	ensembl	human	known	69_37n	missense	82	32.79	40	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25417813	25417813	+	RNA	SNP	A	A	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr15:25417813A>C	ENST00000441592.2	+	0	0				SNORD115-3_ENST00000363100.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGTTTTCTTGAAGAGAGGTGA	0.527																																						dbGAP											0													263.0	274.0	271.0					15																	25417813		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417813A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			SNORD115-2	-	-	ENSG00000199712		0.527	SNHG14-009	KNOWN	basic	antisense	SNORD115-2	HGNC	processed_transcript	OTTHUMT00000126736.3	60	0.00	0	A			25417813	25417813	+1	no_errors	ENST00000362842	ensembl	human	known	69_37n	rna	61	29.07	25	SNP	0.846	C
SPEN	23013	genome.wustl.edu	37	1	16254874	16254874	+	Silent	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:16254874G>C	ENST00000375759.3	+	11	2343	c.2139G>C	c.(2137-2139)cgG>cgC	p.R713R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	713	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTCTGACCGGGACAGAGACC	0.483																																						dbGAP											0													101.0	101.0	101.0					1																	16254874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2139G>C	1.37:g.16254874G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R713	ENST00000375759.3	37	c.2139	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.483	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	18	0.00	0	G	NM_015001		16254874	16254874	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	14	41.67	10	SNP	0.960	C
SPTBN1	6711	genome.wustl.edu	37	2	54872550	54872550	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr2:54872550A>G	ENST00000356805.4	+	21	4735	c.4454A>G	c.(4453-4455)aAa>aGa	p.K1485R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K1472R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1485					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTGGCCTCCAAAGAGATCCAT	0.562																																						dbGAP											0													100.0	96.0	97.0					2																	54872550		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4454A>G	2.37:g.54872550A>G	ENSP00000349259:p.Lys1485Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.K1485R	ENST00000356805.4	37	c.4454	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310674	0.40895	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.70399	1.38;-0.48	5.77	4.59	0.56863	.	0.052639	0.64402	D	0.000001	T	0.57592	0.2064	N	0.13327	0.33	0.39120	D	0.961649	B;B	0.21688	0.048;0.059	B;B	0.34385	0.071;0.181	T	0.54675	-0.8258	10	0.31617	T	0.26	.	12.2625	0.54660	0.9331:0.0:0.0669:0.0	.	1472;1485	Q01082-3;Q01082	.;SPTB2_HUMAN	R	1485;1472	ENSP00000349259:K1485R;ENSP00000334156:K1472R	ENSP00000334156:K1472R	K	+	2	0	SPTBN1	54726054	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	4.352000	0.59404	1.093000	0.41377	0.533000	0.62120	AAA	SPTBN1	-	pirsf_Spectrin_bsu	ENSG00000115306		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	30	0.00	0	A			54872550	54872550	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	G
ST6GALNAC6	30815	genome.wustl.edu	37	9	130653249	130653249	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr9:130653249G>A	ENST00000373146.1	-	5	550	c.371C>T	c.(370-372)cCt>cTt	p.P124L	ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.P124L|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.P90L|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.P90L|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.P124L			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	124					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCGATCTCAGGGCCCAGCTT	0.577																																						dbGAP											0													75.0	69.0	71.0					9																	130653249		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.371C>T	9.37:g.130653249G>A	ENSP00000362239:p.Pro124Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.P124L	ENST00000373146.1	37	c.371	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	g	14.02	2.409725	0.42715	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.71	4.81	0.61882	.	0.530450	0.22179	N	0.063536	T	0.37732	0.1014	M	0.81942	2.565	0.23221	N	0.99809	B;P	0.38395	0.202;0.629	B;B	0.36030	0.138;0.216	T	0.39375	-0.9617	10	0.56958	D	0.05	-5.7135	13.5507	0.61730	0.076:0.0:0.924:0.0	.	90;124	Q969X2-2;Q969X2	.;SIA7F_HUMAN	L	124;90;124;90;124;90	ENSP00000362239:P124L;ENSP00000362234:P90L;ENSP00000362235:P124L;ENSP00000362237:P90L;ENSP00000291839:P124L;ENSP00000405326:P90L	ENSP00000291839:P124L	P	-	2	0	ST6GALNAC6	129693070	0.037000	0.19845	0.160000	0.22671	0.892000	0.51952	2.273000	0.43381	1.422000	0.47177	0.651000	0.88453	CCT	ST6GALNAC6	-	pfam_Glyco_trans_29	ENSG00000160408		0.577	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	59	0.00	0	G	NM_013443		130653249	130653249	-1	no_errors	ENST00000291839	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.009	A
SUSD5	26032	genome.wustl.edu	37	3	33194613	33194613	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr3:33194613T>G	ENST00000309558.3	-	5	1928	c.1511A>C	c.(1510-1512)aAg>aCg	p.K504T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	504					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGTGTCTGCTTGACAGTGTT	0.522																																						dbGAP											0													199.0	206.0	204.0					3																	33194613		2055	4201	6256	-	-	-	SO:0001583	missense	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1511A>C	3.37:g.33194613T>G	ENSP00000308727:p.Lys504Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.K504T	ENST00000309558.3	37	c.1511	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.163313	0.01673	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.03	-0.374	0.12512	.	1.007950	0.07961	N	0.982424	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.48364	-0.9042	10	0.17369	T	0.5	-1.1374	1.6987	0.02867	0.118:0.1703:0.264:0.4477	.	504	O60279	SUSD5_HUMAN	T	504	ENSP00000308727:K504T	ENSP00000308727:K504T	K	-	2	0	SUSD5	33169617	0.000000	0.05858	0.006000	0.13384	0.082000	0.17680	-0.053000	0.11846	0.058000	0.16222	0.528000	0.53228	AAG	SUSD5	-	NULL	ENSG00000173705		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	180	0.00	0	T	XM_171054		33194613	33194613	-1	no_errors	ENST00000309558	ensembl	human	known	69_37n	missense	178	26.14	63	SNP	0.000	G
TAF1C	9013	genome.wustl.edu	37	16	84214789	84214789	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr16:84214789G>A	ENST00000567759.1	-	11	1428	c.1246C>T	c.(1246-1248)Ccg>Tcg	p.P416S	TAF1C_ENST00000570117.1_Missense_Mutation_p.P84S|TAF1C_ENST00000566732.1_Missense_Mutation_p.P390S|TAF1C_ENST00000341690.6_Missense_Mutation_p.P323S|TAF1C_ENST00000541676.1_Missense_Mutation_p.P323S|TAF1C_ENST00000378541.4_Missense_Mutation_p.P416S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	416					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGCCCGGCGGGCCCTGGAAG	0.657																																						dbGAP											0													68.0	80.0	76.0					16																	84214789		2200	4300	6500	-	-	-	SO:0001583	missense	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1246C>T	16.37:g.84214789G>A	ENSP00000455265:p.Pro416Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.P416S	ENST00000567759.1	37	c.1246	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295777	0.40594	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.64438	-0.1;-0.1;-0.1	4.56	4.56	0.56223	.	0.355711	0.23610	N	0.046345	T	0.77329	0.4114	M	0.73598	2.24	0.35461	D	0.796534	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.913;0.998	D	0.83909	0.0294	10	0.66056	D	0.02	-22.6194	12.7086	0.57076	0.0:0.0:1.0:0.0	.	390;416;323	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	S	416;323;323	ENSP00000367802:P416S;ENSP00000437900:P323S;ENSP00000345305:P323S	ENSP00000345305:P323S	P	-	1	0	TAF1C	82772290	1.000000	0.71417	0.988000	0.46212	0.855000	0.48748	4.655000	0.61476	2.360000	0.80028	0.655000	0.94253	CCG	TAF1C	-	NULL	ENSG00000103168		0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	58	0.00	0	G	NM_139353		84214789	84214789	-1	no_errors	ENST00000378541	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.961	A
TBC1D21	161514	genome.wustl.edu	37	15	74177162	74177162	+	Silent	SNP	C	C	A	rs148337402		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr15:74177162C>A	ENST00000300504.2	+	5	491	c.408C>A	c.(406-408)ggC>ggA	p.G136G	TBC1D21_ENST00000535547.2_Silent_p.G100G|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ATCCCCTGGGCAACGTCCTCA	0.537																																						dbGAP											0													107.0	87.0	94.0					15																	74177162		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.408C>A	15.37:g.74177162C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.G136	ENST00000300504.2	37	c.408	CCDS10252.1	15																																																																																			TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.537	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	64	0.00	0	C	NM_153356		74177162	74177162	+1	no_errors	ENST00000300504	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	0.999	A
TMPRSS11A	339967	genome.wustl.edu	37	4	68780427	68780427	+	Missense_Mutation	SNP	C	C	A	rs150048717		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr4:68780427C>A	ENST00000334830.7	-	9	1729	c.983G>T	c.(982-984)cGa>cTa	p.R328L	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R325L|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R324L			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	328	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R328Q(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCTGGCTTCTCGGAGATCATT	0.388																																					NSCLC(26;2 894 10941 14480 22546)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											138.0	130.0	132.0					4																	68780427		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.983G>T	4.37:g.68780427C>A	ENSP00000334611:p.Arg328Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R328L	ENST00000334830.7	37	c.983	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615890	0.46631	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.78	3.15	0.36227	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299635	0.24065	N	0.041869	D	0.91036	0.7180	N	0.21373	0.66	0.35755	D	0.819757	D;D	0.63880	0.993;0.993	P;P	0.56751	0.805;0.805	D	0.90959	0.4811	10	0.72032	D	0.01	.	7.8773	0.29601	0.0:0.6795:0.0:0.3205	.	325;328	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	L	324;328;325;292	ENSP00000426911:R324L;ENSP00000334611:R328L;ENSP00000379491:R325L;ENSP00000427621:R292L	ENSP00000334611:R328L	R	-	2	0	TMPRSS11A	68463022	0.174000	0.23070	0.641000	0.29422	0.109000	0.19521	-0.117000	0.10708	0.380000	0.24823	0.591000	0.81541	CGA	TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000187054		0.388	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	43	0.00	0	C	NM_182606		68780427	68780427	-1	no_errors	ENST00000334830	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	0.991	A
TP53	7157	genome.wustl.edu	37	17	7579363	7579364	+	Frame_Shift_Ins	INS	-	-	C	rs587783063		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:7579363_7579364insC	ENST00000269305.4	-	4	512_513	c.323_324insG	c.(322-324)ggtfs	p.G108fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G108fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.G108fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G108fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G108fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G108fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	108	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108D(1)|p.G108G(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCAGACGGAAACCGTAGCTGCC	0.619		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(3)|Complex - deletion inframe(2)|Insertion - In frame(1)|Substitution - Missense(1)|Substitution - coding silent(1)	ovary(6)|upper_aerodigestive_tract(5)|breast(5)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.324dupG	17.37:g.7579365_7579365dupC	ENSP00000269305:p.Gly108fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R110fs	ENST00000269305.4	37	c.324_323	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	79	0.00	0	-	NM_000546		7579363	7579364	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	36	53.25	41	INS	0.873:0.910	C
TPTE2P6	374491	genome.wustl.edu	37	13	25160792	25160792	+	RNA	SNP	G	G	A	rs3978677	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr13:25160792G>A	ENST00000453498.1	+	0	747				TPTE2P6_ENST00000440905.1_RNA																							GGGGAGAGCCGTTGTGAACAG	0.468													g|||	2548	0.508786	0.5121	0.5187	5008	,	,		20848	0.4583		0.4334	False		,,,				2504	0.6268					dbGAP											0																																										-	-	-			0																															13.37:g.25160792G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			TPTE2P6	-	-	ENSG00000205822		0.468	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPTE2P6	HGNC	processed_transcript	OTTHUMT00000044193.1	16	0.00	0	G			25160792	25160792	+1	no_errors	ENST00000440905	ensembl	human	known	69_37n	rna	6	33.33	3	SNP	0.115	A
TRHDE	29953	genome.wustl.edu	37	12	72680617	72680617	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:72680617G>A	ENST00000261180.4	+	2	1032	c.936G>A	c.(934-936)gaG>gaA	p.E312E		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	312					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGTGTTTGAGGAAGATGGAT	0.403																																						dbGAP											0													166.0	156.0	160.0					12																	72680617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.936G>A	12.37:g.72680617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G78R	ENST00000261180.4	37	c.232	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943181	0.18281	.	.	ENSG00000072657	ENST00000547300	.	.	.	6.17	5.29	0.74685	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57991	-0.7715	4	.	.	.	.	7.4174	0.27053	0.2682:0.0:0.7318:0.0	.	.	.	.	R	78	.	.	G	+	1	0	TRHDE	70966884	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.325000	0.33724	1.637000	0.50538	0.655000	0.94253	GGA	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.403	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	40	0.00	0	G	NM_013381		72680617	72680617	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000547300	ensembl	human	novel	69_37n	missense	21	53.33	24	SNP	1.000	A
TRIM29	23650	genome.wustl.edu	37	11	119999152	119999153	+	Frame_Shift_Ins	INS	-	-	A	rs371461470		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:119999152_119999153insA	ENST00000341846.5	-	2	1276_1277	c.855_856insT	c.(853-858)attgagfs	p.E286fs	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Frame_Shift_Ins_p.E25fs|TRIM29_ENST00000541857.1_Frame_Shift_Ins_p.E19fs	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	286					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCTTCATCCTCAATCTCAATGA	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.856dupT	11.37:g.119999154_119999154dupA	ENSP00000343129:p.Glu286fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AA9|Q9BZY7	Frame_Shift_Ins	INS	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.E285fs	ENST00000341846.5	37	c.856_855	CCDS8428.1	11																																																																																			TRIM29	-	NULL	ENSG00000137699		0.554	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	33	0.00	0	-	NM_012101		119999152	119999153	-1	no_errors	ENST00000341846	ensembl	human	known	69_37n	frame_shift_ins	28	36.36	16	INS	0.994:0.349	A
TTLL10	254173	genome.wustl.edu	37	1	1111200	1111200	+	Intron	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:1111200C>T	ENST00000379290.1	+	3	146				TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTGCCACCGTGCAGGTGG	0.682																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1331C>T	1.37:g.1111200C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-	ENSG00000205231		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	245	0.41	1	C	NM_153254		1111200	1111200	-1	no_errors	ENST00000379317	ensembl	human	known	69_37n	rna	165	12.17	23	SNP	0.029	T
TTF2	8458	genome.wustl.edu	37	1	117634446	117634446	+	Silent	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:117634446G>A	ENST00000369466.4	+	17	2723	c.2679G>A	c.(2677-2679)ctG>ctA	p.L893L	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	893					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGTGGCACTGGAGTTTGGGT	0.527																																						dbGAP											0													65.0	64.0	64.0					1																	117634446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2679G>A	1.37:g.117634446G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L893	ENST00000369466.4	37	c.2679	CCDS892.1	1																																																																																			TTF2	-	pfam_SNF2_N	ENSG00000116830		0.527	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	64	0.00	0	G			117634446	117634446	+1	no_errors	ENST00000369466	ensembl	human	known	69_37n	silent	71	17.44	15	SNP	0.569	A
TWISTNB	221830	genome.wustl.edu	37	7	19748564	19748564	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr7:19748564G>T	ENST00000222567.5	-	1	146	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	26					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGGCAAGGCAGGACGCCAGCC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													34.0	31.0	32.0					7																	19748564		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.76C>A	7.37:g.19748564G>T	ENSP00000222567:p.Leu26Met	Somatic	735	WXS	Illumina GAIIx	Phase_IV	A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.L26M	ENST00000222567.5	37	c.76	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908633	0.52439	.	.	ENSG00000105849	ENST00000222567	.	.	.	3.76	-0.491	0.12045	.	0.491581	0.21270	N	0.077326	T	0.38348	0.1037	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.19745	-1.0296	9	0.42905	T	0.14	-0.1144	6.3423	0.21330	0.1647:0.2815:0.5537:0.0	.	26	Q3B726	RPA43_HUMAN	M	26	.	ENSP00000222567:L26M	L	-	1	2	TWISTNB	19715089	0.000000	0.05858	0.018000	0.16275	0.215000	0.24574	-0.665000	0.05286	-0.224000	0.09928	0.655000	0.94253	CTG	TWISTNB	-	NULL	ENSG00000105849		0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	51	0.00	0	G			19748564	19748564	-1	no_errors	ENST00000222567	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	0.001	T
UBE3B	89910	genome.wustl.edu	37	12	109967700	109967700	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr12:109967700G>C	ENST00000342494.3	+	25	3228	c.2633G>C	c.(2632-2634)aGc>aCc	p.S878T	UBE3B_ENST00000434735.2_Missense_Mutation_p.S878T|UBE3B_ENST00000535089.1_5'Flank	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	878	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AACAGAATTAGCTACATCCAT	0.443																																						dbGAP											0													146.0	133.0	138.0					12																	109967700		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2633G>C	12.37:g.109967700G>C	ENSP00000340596:p.Ser878Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Splice_Site	SNP	-	e19-1	ENST00000342494.3	37	c.2127-1	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316858	0.60524	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070	T;T	0.57752	0.38;0.38	5.95	5.06	0.68205	HECT (4);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.48642	1.525	0.80722	D	1	B	0.30526	0.283	B	0.41332	0.354	T	0.44832	-0.9302	10	0.16896	T	0.51	0.7093	14.2763	0.66181	0.0711:0.0:0.9289:0.0	.	878	Q7Z3V4	UBE3B_HUMAN	T	878;878;173	ENSP00000391529:S878T;ENSP00000340596:S878T	ENSP00000340596:S878T	S	+	2	0	UBE3B	108452083	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.338000	0.96553	1.528000	0.49103	-0.258000	0.10820	AGC	UBE3B	-	-	ENSG00000151148		0.443	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	49	0.00	0	G	NM_183415		109967700	109967700	+1	no_errors	ENST00000449510	ensembl	human	known	69_37n	splice_site	32	27.27	12	SNP	1.000	C
UBQLNL	143630	genome.wustl.edu	37	11	5537479	5537479	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr11:5537479A>G	ENST00000380184.1	-	1	456	c.193T>C	c.(193-195)Tgc>Cgc	p.C65R	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	65	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCCATCTGGCATTGGAAGTGA	0.493																																						dbGAP											0													201.0	156.0	172.0					11																	5537479		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.193T>C	11.37:g.5537479A>G	ENSP00000369531:p.Cys65Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.C65R	ENST00000380184.1	37	c.193	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054843	0.55325	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.73047	-0.71	5.66	4.47	0.54385	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.50627	D	0.000117	T	0.80276	0.4593	M	0.68952	2.095	0.48040	D	0.999578	D	0.89917	1.0	D	0.91635	0.999	T	0.81439	-0.0932	10	0.72032	D	0.01	.	9.1137	0.36744	0.8155:0.1844:0.0:0.0	.	65	Q8IYU4	UBQLN_HUMAN	R	65	ENSP00000369531:C65R	ENSP00000369531:C65R	C	-	1	0	UBQLNL	5494055	0.045000	0.20229	1.000000	0.80357	0.975000	0.68041	1.879000	0.39618	2.151000	0.67156	0.528000	0.53228	TGC	UBQLNL	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000175518		0.493	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	82	0.00	0	A	NM_145053		5537479	5537479	-1	no_errors	ENST00000380184	ensembl	human	putative	69_37n	missense	75	26.47	27	SNP	0.939	G
UHRF1	29128	genome.wustl.edu	37	19	4930847	4930847	+	RNA	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:4930847G>A	ENST00000592666.1	+	0	1104				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGTCCAGGCCGGCGCTGGAGG	0.657																																						dbGAP											0													63.0	70.0	67.0					19																	4930847		2123	4210	6333	-	-	-			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930847G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.657	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	104	0.00	0	G	NM_001048201		4930847	4930847	+1	no_errors	ENST00000262952	ensembl	human	known	69_37n	rna	63	14.86	11	SNP	0.000	A
USH2A	7399	genome.wustl.edu	37	1	215933099	215933099	+	Missense_Mutation	SNP	C	C	T	rs201951918	byFrequency	TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr1:215933099C>T	ENST00000307340.3	-	57	11520	c.11134G>A	c.(11134-11136)Gtt>Att	p.V3712I	USH2A_ENST00000366943.2_Missense_Mutation_p.V3712I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3712	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTGAGAAACGAGGCCATTG	0.433										HNSCC(13;0.011)			c|||	2	0.000399361	0.0	0.0	5008	,	,		15901	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													110.0	104.0	106.0					1																	215933099		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11134G>A	1.37:g.215933099C>T	ENSP00000305941:p.Val3712Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V3712I	ENST00000307340.3	37	c.11134	CCDS31025.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	3.062	-0.193095	0.06259	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.41065	1.01;1.01	5.24	1.52	0.23074	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.324151	0.21718	N	0.070164	T	0.13372	0.0324	N	0.03115	-0.41	0.19775	N	0.99996	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	10	0.02654	T	1	.	4.4988	0.11855	0.1315:0.2138:0.0:0.6547	.	3712	O75445	USH2A_HUMAN	I	3712	ENSP00000305941:V3712I;ENSP00000355910:V3712I	ENSP00000305941:V3712I	V	-	1	0	USH2A	213999722	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	0.828000	0.27435	0.055000	0.16094	-0.404000	0.06349	GTT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	48	0.00	0	C	NM_007123		215933099	215933099	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	35	51.39	37	SNP	0.996	T
UTP14A	10813	genome.wustl.edu	37	X	129042696	129042696	+	Missense_Mutation	SNP	A	A	G	rs559624014		TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chrX:129042696A>G	ENST00000394422.3	+	4	252	c.224A>G	c.(223-225)aAt>aGt	p.N75S	UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Missense_Mutation_p.N75S|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	75					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCAGAGTTCAATGTCAGTTCT	0.448													A|||	4	0.0010596	0.0	0.0	3775	,	,		15030	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													224.0	213.0	217.0					X																	129042696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.224A>G	X.37:g.129042696A>G	ENSP00000377944:p.Asn75Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.N75S	ENST00000394422.3	37	c.224	CCDS14615.1	X	.	.	.	.	.	.	.	.	.	.	A	8.353	0.831405	0.16820	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.18338	2.22;2.22	5.5	-2.75	0.05914	.	0.651001	0.17832	N	0.160492	T	0.10809	0.0264	L	0.46157	1.445	0.58432	D	0.999997	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.005	T	0.29119	-1.0022	10	0.12430	T	0.62	-6.8708	6.8	0.23746	0.4777:0.1273:0.395:0.0	.	75;75	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	S	75	ENSP00000388669:N75S;ENSP00000377944:N75S	ENSP00000377944:N75S	N	+	2	0	UTP14A	128870377	0.132000	0.22450	0.963000	0.40424	0.809000	0.45718	-0.294000	0.08309	-0.360000	0.08138	-0.314000	0.08810	AAT	UTP14A	-	pfam_SSU_processome_Utp14	ENSG00000156697		0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	78	0.00	0	A	NM_006649		129042696	129042696	+1	no_errors	ENST00000394422	ensembl	human	known	69_37n	missense	41	43.84	32	SNP	0.820	G
UTRN	7402	genome.wustl.edu	37	6	144999560	144999560	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr6:144999560G>A	ENST00000367545.3	+	51	7498	c.7498G>A	c.(7498-7500)Gat>Aat	p.D2500N	UTRN_ENST00000367526.4_Missense_Mutation_p.D55N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2500					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGCAGAAATTGATGCCCACAA	0.373																																						dbGAP											0													83.0	79.0	80.0					6																	144999560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7498G>A	6.37:g.144999560G>A	ENSP00000356515:p.Asp2500Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.D2500N	ENST00000367545.3	37	c.7498	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001925	0.93227	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000367525;ENST00000542118	T;T;T	0.68331	0.79;-0.32;0.67	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000074	T	0.63129	0.2485	M	0.68593	2.085	0.50467	D	0.999872	B	0.24043	0.096	B	0.33295	0.161	T	0.65389	-0.6180	10	0.87932	D	0	.	19.4657	0.94939	0.0:0.0:1.0:0.0	.	2500	P46939	UTRO_HUMAN	N	2500;55;24;24	ENSP00000356515:D2500N;ENSP00000356496:D55N;ENSP00000356495:D24N	ENSP00000356495:D24N	D	+	1	0	UTRN	145041253	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.414000	0.97362	2.587000	0.87381	0.655000	0.94253	GAT	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	37	0.00	0	G			144999560	144999560	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	18	14.29	3	SNP	1.000	A
WDR7	23335	genome.wustl.edu	37	18	54348616	54348616	+	Silent	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr18:54348616C>T	ENST00000254442.3	+	4	550	c.339C>T	c.(337-339)ggC>ggT	p.G113G	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.G113G	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	113					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CACATACTGGCATACAGGTTA	0.294																																						dbGAP											0													163.0	155.0	157.0					18																	54348616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.339C>T	18.37:g.54348616C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G113	ENST00000254442.3	37	c.339	CCDS11962.1	18																																																																																			WDR7	-	superfamily_Quinonprotein_ADH-like	ENSG00000091157		0.294	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	81	0.00	0	C			54348616	54348616	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	silent	46	50.54	47	SNP	1.000	T
ZNF135	7694	genome.wustl.edu	37	19	58571336	58571336	+	Splice_Site	SNP	G	G	A			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:58571336G>A	ENST00000313434.5	+	2	67		c.e2-1		ZNF135_ENST00000439855.2_Intron|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Intron|ZNF135_ENST00000506786.1_Splice_Site|ZNF135_ENST00000511556.1_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135						cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CTTTCCCACAGAGCAGGGCCA	0.697																																						dbGAP											0													48.0	41.0	43.0					19																	58571336		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.-34-1G>A	19.37:g.58571336G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Splice_Site	SNP	-	e1-1	ENST00000313434.5	37	c.1-1		19																																																																																			ZNF135	-	-	ENSG00000176293		0.697	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	185	0.00	0	G	NM_003436	Intron	58571336	58571336	+1	no_errors	ENST00000313434	ensembl	human	known	69_37n	splice_site	154	21.03	41	SNP	0.980	A
ZNF236	7776	genome.wustl.edu	37	18	74583726	74583726	+	Silent	SNP	T	T	C			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr18:74583726T>C	ENST00000253159.8	+	5	804	c.606T>C	c.(604-606)tgT>tgC	p.C202C	ZNF236_ENST00000320610.9_Silent_p.C204C|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	202					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCCGCACTGTGGAAAGACGT	0.453																																						dbGAP											0													155.0	139.0	144.0					18																	74583726		2016	4177	6193	-	-	-	SO:0001819	synonymous_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.606T>C	18.37:g.74583726T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C202	ENST00000253159.8	37	c.606	CCDS42447.1	18																																																																																			ZNF236	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130856		0.453	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	50	0.00	0	T			74583726	74583726	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	silent	51	10.53	6	SNP	1.000	C
ZNF324	25799	genome.wustl.edu	37	19	58981143	58981144	+	In_Frame_Ins	INS	-	-	ACT			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr19:58981143_58981144insACT	ENST00000536459.2	+	3	879_880	c.170_171insACT	c.(169-174)gaggag>gaACTggag	p.57_58EE>ELE	ZNF324_ENST00000196482.3_In_Frame_Ins_p.57_58EE>ELE|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAGCGTGGCGAGGAGCCCTGGG	0.614																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		Exception_encountered	19.37:g.58981143_58981144insACT	ENSP00000444812:p.Glu57_Glu58insLeu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRX1	In_Frame_Ins	INS	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.58in_frame_insL	ENST00000536459.2	37	c.170_171	CCDS12981.1	19																																																																																			ZNF324	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000083812		0.614	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	64	0.00	0	-	NM_014347		58981143	58981144	+1	no_errors	ENST00000196482	ensembl	human	known	69_37n	in_frame_ins	63	10.00	7	INS	0.853:0.901	ACT
ZNF624	57547	genome.wustl.edu	37	17	16525927	16525927	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A400-01A-11D-A23C-09	TCGA-B6-A400-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c4a3f5f1-86c6-444d-96ed-4865a65e1803	14691103-0cf4-47d2-ad99-f72c5f3de295	g.chr17:16525927C>T	ENST00000311331.7	-	6	2364	c.2273G>A	c.(2272-2274)gGa>gAa	p.G758E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAAGGCTTTTCCACAGACATC	0.428																																					NSCLC(186;1023 2134 13330 38202 39800)	dbGAP											0													96.0	99.0	98.0					17																	16525927		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2273G>A	17.37:g.16525927C>T	ENSP00000310472:p.Gly758Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY62|Q3SY63|Q6ZN27	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.G758E	ENST00000311331.7	37	c.2273	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950488	0.53186	.	.	ENSG00000197566	ENST00000311331	T	0.06933	3.24	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	L	0.42686	1.345	0.37898	D	0.930941	D	0.89917	1.0	D	0.91635	0.999	T	0.03641	-1.1017	9	0.62326	D	0.03	.	12.9997	0.58667	0.0:1.0:0.0:0.0	.	758	Q9P2J8	ZN624_HUMAN	E	758	ENSP00000310472:G758E	ENSP00000310472:G758E	G	-	2	0	ZNF624	16466652	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	2.809000	0.47971	2.172000	0.68678	0.655000	0.94253	GGA	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.428	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	34	0.00	0	C	XM_047617		16525927	16525927	-1	no_errors	ENST00000311331	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	1.000	T
