#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
ABCA1	19	genome.wustl.edu	37	9	107558476	107558476	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:107558476C>A	ENST00000374736.3	-	39	5634	c.5240G>T	c.(5239-5241)tGg>tTg	p.W1747L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1747					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGTGATTGACCACCTGTTGAG	0.507																																						dbGAP											0													118.0	107.0	111.0					9																	107558476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5240G>T	9.37:g.107558476C>A	ENSP00000363868:p.Trp1747Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W1747L	ENST00000374736.3	37	c.5240	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565855	0.86439	.	.	ENSG00000165029	ENST00000374736	D	0.82167	-1.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	L	0.55481	1.735	0.80722	D	1	P	0.36222	0.544	P	0.52758	0.708	D	0.86474	0.1787	10	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1747	O95477	ABCA1_HUMAN	L	1747	ENSP00000363868:W1747L	ENSP00000363868:W1747L	W	-	2	0	ABCA1	106598297	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG	ABCA1	-	NULL	ENSG00000165029		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	77	0.00	0	C	NM_005502		107558476	107558476	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	1.000	A
ABCB8	11194	genome.wustl.edu	37	7	150739114	150739114	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:150739114G>A	ENST00000297504.6	+	15	1801	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	ABCB8_ENST00000498578.1_Missense_Mutation_p.E562K|ABCB8_ENST00000358849.4_Missense_Mutation_p.E562K|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.E474K			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	579	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	AGCTTCCGATGAAGAGGTGTA	0.587																																						dbGAP											0													63.0	64.0	64.0					7																	150739114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1735G>A	7.37:g.150739114G>A	ENSP00000297504:p.Glu579Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	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.E579K	ENST00000297504.6	37	c.1735		7	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007073	0.54361	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.267855	0.36066	N	0.002803	D	0.89986	0.6874	L	0.52759	1.655	0.80722	D	1	B;B;B;B	0.29136	0.234;0.177;0.177;0.147	B;B;B;B	0.39152	0.135;0.213;0.292;0.192	D	0.88485	0.3071	10	0.45353	T	0.12	-8.9106	15.5571	0.76203	0.0:0.0:1.0:0.0	.	474;562;579;562	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	K	562;545;579;474;562	ENSP00000351717:E562K;ENSP00000297504:E579K;ENSP00000438776:E474K;ENSP00000418271:E562K	ENSP00000297504:E579K	E	+	1	0	ABCB8	150370047	1.000000	0.71417	0.908000	0.35775	0.010000	0.07245	6.434000	0.73408	2.526000	0.85167	0.561000	0.74099	GAA	ABCB8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000197150		0.587	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	38	0.00	0	G	NM_007188		150739114	150739114	+1	no_errors	ENST00000297504	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	1.000	A
ABLIM1	3983	genome.wustl.edu	37	10	116199016	116199016	+	Intron	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr10:116199016C>T	ENST00000277895.5	-	21	2165				ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000369266.3_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000392952.3_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTGTCTGCAACAGAAATGCCA	0.498																																						dbGAP											0													133.0	108.0	117.0					10																	116199016		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.2068-7G>A	10.37:g.116199016C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Splice_Site	SNP	-	e20+2	ENST00000277895.5	37	c.1884+2	CCDS7590.1	10	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628691	0.14257	.	.	ENSG00000099204	ENST00000369267;ENST00000533213;ENST00000369266;ENST00000369260	.	.	.	5.59	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1056	0.30883	0.0:0.7317:0.128:0.1402	.	.	.	.	.	-1	.	.	.	-	.	.	ABLIM1	116189006	0.948000	0.32251	0.998000	0.56505	0.272000	0.26649	0.074000	0.14662	0.735000	0.32537	-0.222000	0.12452	.	ABLIM1	-	-	ENSG00000099204		0.498	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	74	0	0	C			116199016	116199016	-1	no_errors	ENST00000533213	ensembl	human	known	69_37n	splice_site	35	16.67	7	SNP	1.000	T
ACTG1	71	genome.wustl.edu	37	17	79478492	79478492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:79478492delA	ENST00000575842.1	-	3	950	c.524delT	c.(523-525)atcfs	p.I175fs	ACTG1_ENST00000573283.1_Frame_Shift_Del_p.I175fs|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Frame_Shift_Del_p.I175fs|ACTG1_ENST00000331925.2_Frame_Shift_Del_p.I175fs|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	175					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CAGACGCAGGATGGCGTGGGG	0.642																																						dbGAP											0													45.0	51.0	49.0					17																	79478492		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.524delT	17.37:g.79478492delA	ENSP00000458162:p.Ile175fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.I175fs	ENST00000575842.1	37	c.524	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like,smart_Actin-like	ENSG00000184009		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	40	0.00	0	A	NM_001614		79478492	79478492	-1	no_errors	ENST00000331925	ensembl	human	known	69_37n	frame_shift_del	24	21.21	7	DEL	1.000	-
ADAM9	8754	genome.wustl.edu	37	8	38899492	38899492	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:38899492T>A	ENST00000487273.2	+	12	1236	c.1158T>A	c.(1156-1158)agT>agA	p.S386R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GCAGTTGCAGTGCAGAGGACT	0.358																																						dbGAP											0													76.0	83.0	81.0					8																	38899492		2203	4300	6503	-	-	-	SO:0001583	missense	0			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1158T>A	8.37:g.38899492T>A	ENSP00000419446:p.Ser386Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.S386R	ENST00000487273.2	37	c.1158	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043038	0.75732	.	.	ENSG00000168615	ENST00000487273	T	0.32272	1.46	6.05	6.05	0.98169	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80151	-0.1502	10	0.87932	D	0	.	11.6016	0.51006	0.0:0.0686:0.0:0.9314	.	386	Q13443	ADAM9_HUMAN	R	386	ENSP00000419446:S386R	ENSP00000369249:S386R	S	+	3	2	ADAM9	39018649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.686000	0.37669	2.320000	0.78422	0.528000	0.53228	AGT	ADAM9	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168615		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	54	0.00	0	T			38899492	38899492	+1	no_errors	ENST00000487273	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	A
AHCTF1	25909	genome.wustl.edu	37	1	247024360	247024360	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:247024360G>C	ENST00000391829.2	-	29	4096	c.3973C>G	c.(3973-3975)Ccg>Gcg	p.P1325A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1334A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.P1360A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1325	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCGGTGACGGTGCATCCTGA	0.448																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													114.0	98.0	103.0					1																	247024360		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3973C>G	1.37:g.247024360G>C	ENSP00000375705:p.Pro1325Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.P1334A	ENST00000391829.2	37	c.4000		1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952440	0.34471	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35236	1.32;1.32;1.33	5.86	5.86	0.93980	.	0.189766	0.37577	N	0.002037	T	0.46580	0.1400	M	0.68952	2.095	0.09310	N	1	P;P;D	0.58268	0.925;0.787;0.982	P;B;P	0.51415	0.621;0.347;0.669	T	0.45891	-0.9230	10	0.32370	T	0.25	-3.0245	13.2752	0.60184	0.0:0.0:0.8039:0.1961	.	186;1360;1325	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	A	1360;1334;1325	ENSP00000355464:P1360A;ENSP00000355465:P1334A;ENSP00000375705:P1325A	ENSP00000355465:P1334A	P	-	1	0	AHCTF1	245090983	0.827000	0.29292	0.224000	0.23877	0.011000	0.07611	3.110000	0.50352	2.937000	0.99478	0.650000	0.86243	CCG	AHCTF1	-	NULL	ENSG00000153207		0.448	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		100	0.00	0	G	NM_015446		247024360	247024360	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	92	17.86	20	SNP	0.104	C
AREG	374	genome.wustl.edu	37	4	75311103	75311103	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:75311103C>G	ENST00000395748.3	+	1	253	c.41C>G	c.(40-42)tCg>tGg	p.S14W	AREG_ENST00000502307.1_Missense_Mutation_p.S14W|AREG_ENST00000264487.2_Missense_Mutation_p.S14W	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	14					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			GTGGTGCTGTCGCTCTTGATA	0.632																																						dbGAP											0													21.0	31.0	27.0					4																	75311103		2179	4291	6470	-	-	-	SO:0001583	missense	0			M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.41C>G	4.37:g.75311103C>G	ENSP00000379097:p.Ser14Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U026	Missense_Mutation	SNP	pfscan_EG-like_dom	p.S14W	ENST00000395748.3	37	c.41	CCDS3565.1	4	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541191	0.27563	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.16324	2.35;2.35;2.51	3.89	-3.29	0.05017	.	1.455540	0.04052	N	0.304956	T	0.17109	0.0411	L	0.60455	1.87	0.21897	N	0.99949	B	0.06786	0.001	B	0.08055	0.003	T	0.32481	-0.9905	10	0.45353	T	0.12	5.5579	5.9534	0.19259	0.0:0.4675:0.277:0.2555	.	14	P15514	AREG_HUMAN	W	14	ENSP00000379097:S14W;ENSP00000264487:S14W;ENSP00000421414:S14W	ENSP00000264487:S14W	S	+	2	0	AREG	75529967	0.013000	0.17824	0.184000	0.23157	0.717000	0.41224	-1.377000	0.02558	-0.955000	0.03636	0.467000	0.42956	TCG	AREG	-	NULL	ENSG00000109321		0.632	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AREG	HGNC	protein_coding	OTTHUMT00000252277.1	53	0.00	0	C			75311103	75311103	+1	no_errors	ENST00000264487	ensembl	human	known	69_37n	missense	7	53.33	8	SNP	0.223	G
ATP2C1	27032	genome.wustl.edu	37	3	130686035	130686035	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:130686035G>C	ENST00000510168.1	+	15	1719	c.1169G>C	c.(1168-1170)gGt>gCt	p.G390A	ATP2C1_ENST00000505330.1_Missense_Mutation_p.G374A|ATP2C1_ENST00000393221.4_Missense_Mutation_p.G424A|ATP2C1_ENST00000422190.2_Missense_Mutation_p.G390A|ATP2C1_ENST00000513801.1_Missense_Mutation_p.G374A|ATP2C1_ENST00000504381.1_Missense_Mutation_p.G335A|ATP2C1_ENST00000428331.2_Missense_Mutation_p.G390A|ATP2C1_ENST00000359644.3_Missense_Mutation_p.G390A|ATP2C1_ENST00000504948.1_Missense_Mutation_p.G374A|ATP2C1_ENST00000533801.2_Missense_Mutation_p.G385A|ATP2C1_ENST00000508532.1_Missense_Mutation_p.G390A|ATP2C1_ENST00000328560.8_Missense_Mutation_p.G390A|ATP2C1_ENST00000507488.2_Missense_Mutation_p.G374A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	390					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTGTTGATGGTGATGTTGTT	0.353									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													288.0	290.0	289.0					3																	130686035		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1169G>C	3.37:g.130686035G>C	ENSP00000427461:p.Gly390Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.G424A	ENST00000510168.1	37	c.1271	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.189535|3.189535	0.57909|0.57909	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.93307|.	-3.08;-3.15;-3.09;-3.11;-3.18;-3.09;-3.09;-3.08;-3.09;-3.2;-3.09;-3.1;-3.1;-1.73|.	5.4|5.4	5.4|5.4	0.78164|0.78164	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	P;P;P;P;B;P;P|.	0.42871|.	0.753;0.792;0.629;0.753;0.425;0.516;0.571|.	B;P;B;B;B;B;B|.	0.47251|.	0.406;0.542;0.439;0.406;0.159;0.281;0.403|.	T|T	0.62469|0.62469	-0.6848|-0.6848	10|5	0.45353|.	T|.	0.12|.	.|.	19.1827|19.1827	0.93629|0.93629	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	424;385;424;390;424;390;390|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	A|L	374;335;374;424;385;390;390;374;374;390;390;390;390;389;129|344	ENSP00000423774:G374A;ENSP00000425320:G335A;ENSP00000421326:G374A;ENSP00000376914:G424A;ENSP00000432956:G385A;ENSP00000427461:G390A;ENSP00000424783:G390A;ENSP00000423330:G374A;ENSP00000422872:G374A;ENSP00000329664:G390A;ENSP00000395809:G390A;ENSP00000352665:G390A;ENSP00000402677:G390A;ENSP00000422890:G129A|.	ENSP00000329664:G390A|.	G|V	+|+	2|1	0|0	ATP2C1|ATP2C1	132168725|132168725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.536000|2.536000	0.85505|0.85505	0.585000|0.585000	0.79938|0.79938	GGT|GTG	ATP2C1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.353	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	126	0.00	0	G	NM_001001486		130686035	130686035	+1	no_errors	ENST00000393221	ensembl	human	known	69_37n	missense	97	29.20	40	SNP	1.000	C
ATP2C2	9914	genome.wustl.edu	37	16	84488552	84488552	+	Silent	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr16:84488552C>A	ENST00000262429.4	+	21	2198	c.2109C>A	c.(2107-2109)gcC>gcA	p.A703A	ATP2C2_ENST00000416219.2_Silent_p.A703A|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	703					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAGAGGCCGCCAACATGATCC	0.557																																						dbGAP											0													90.0	98.0	95.0					16																	84488552		2158	4259	6417	-	-	-	SO:0001819	synonymous_variant	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2109C>A	16.37:g.84488552C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.A703	ENST00000262429.4	37	c.2109	CCDS42207.1	16																																																																																			ATP2C2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000064270		0.557	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	80	0.00	0	C	NM_014861		84488552	84488552	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	1.000	A
BARHL2	343472	genome.wustl.edu	37	1	91180220	91180220	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:91180220G>T	ENST00000370445.4	-	2	760	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	240					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTGGTGGTCGGAAAAAGCTGT	0.562																																					GBM(199;3561 4100 22440)	dbGAP											0													185.0	175.0	179.0					1																	91180220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.719C>A	1.37:g.91180220G>T	ENSP00000359474:p.Ser240Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S240Y	ENST00000370445.4	37	c.719	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418300	0.62622	.	.	ENSG00000143032	ENST00000370445	D	0.96802	-4.13	5.24	5.24	0.73138	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.121417	0.56097	D	0.000031	D	0.98298	0.9436	M	0.92169	3.28	0.58432	D	0.999998	D	0.59767	0.986	P	0.62184	0.899	D	0.99353	1.0915	10	0.87932	D	0	.	17.4207	0.87514	0.0:0.0:1.0:0.0	.	240	Q9NY43	BARH2_HUMAN	Y	240	ENSP00000359474:S240Y	ENSP00000359474:S240Y	S	-	2	0	BARHL2	90952808	1.000000	0.71417	0.944000	0.38274	0.979000	0.70002	7.876000	0.87215	2.440000	0.82611	0.655000	0.94253	TCC	BARHL2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000143032		0.562	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	90	0.00	0	G			91180220	91180220	-1	no_errors	ENST00000370445	ensembl	human	known	69_37n	missense	28	56.25	36	SNP	0.998	T
BBS10	79738	genome.wustl.edu	37	12	76740626	76740626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr12:76740626delC	ENST00000393262.3	-	2	1222	c.1139delG	c.(1138-1140)agafs	p.R380fs		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	380					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATGAACATATCTTTTGGATCT	0.403									Bardet-Biedl syndrome																													dbGAP											0													77.0	72.0	73.0					12																	76740626		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1139delG	12.37:g.76740626delC	ENSP00000376946:p.Arg380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CW2|Q9H5D2	Frame_Shift_Del	DEL	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R380fs	ENST00000393262.3	37	c.1139	CCDS9014.2	12																																																																																			BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000179941		0.403	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	42	0.00	0	C	NM_024685		76740626	76740626	-1	no_errors	ENST00000393262	ensembl	human	known	69_37n	frame_shift_del	37	15.91	7	DEL	1.000	-
BCL2L2	599	genome.wustl.edu	37	14	23778024	23778024	+	Splice_Site	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr14:23778024G>A	ENST00000250405.5	+	4	661		c.e4-1		BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CTCTCCCACAGGCGGAGTTCA	0.602																																						dbGAP											0													39.0	45.0	43.0					14																	23778024		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.433-1G>A	14.37:g.23778024G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0F4|Q2M3U0|Q5U0H4	Splice_Site	SNP	-	e2-1	ENST00000250405.5	37	c.433-1	CCDS9591.1	14	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640877	0.67244	.	.	ENSG00000129473	ENST00000250405;ENST00000557236;ENST00000556599	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5174	0.75837	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCL2L2	22847864	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.489000	0.53237	2.268000	0.75426	0.313000	0.20887	.	BCL2L2	-	-	ENSG00000129473		0.602	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L2	HGNC	protein_coding	OTTHUMT00000071763.3	36	0.00	0	G	NM_004050	Intron	23778024	23778024	+1	no_errors	ENST00000250405	ensembl	human	known	69_37n	splice_site	8	63.64	14	SNP	1.000	A
BPIFA2	140683	genome.wustl.edu	37	20	31765968	31765968	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr20:31765968C>T	ENST00000253362.2	+	6	725	c.579C>T	c.(577-579)atC>atT	p.I193I	BPIFA2_ENST00000354932.5_Silent_p.I193I			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	193						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCCAAATCATCAACAAGTTCG	0.512																																						dbGAP											0													69.0	55.0	60.0					20																	31765968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.579C>T	20.37:g.31765968C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQQ0	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.I193	ENST00000253362.2	37	c.579	CCDS13214.1	20																																																																																			BPIFA2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131050		0.512	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	39	0.00	0	C	NM_080574		31765968	31765968	+1	no_errors	ENST00000253362	ensembl	human	known	69_37n	silent	22	33.33	11	SNP	0.006	T
BRSK2	9024	genome.wustl.edu	37	11	1463799	1463799	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:1463799C>A	ENST00000528841.1	+	5	877	c.493C>A	c.(493-495)Ctg>Atg	p.L165M	BRSK2_ENST00000528710.1_Missense_Mutation_p.L105M|BRSK2_ENST00000526678.1_Missense_Mutation_p.L165M|BRSK2_ENST00000531197.1_Missense_Mutation_p.L165M|BRSK2_ENST00000308219.9_Missense_Mutation_p.L165M|BRSK2_ENST00000308230.5_Missense_Mutation_p.L165M|BRSK2_ENST00000382179.1_Missense_Mutation_p.L211M|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CATGGCGTCCCTGCAGGTTGG	0.627																																						dbGAP											0													89.0	98.0	95.0					11																	1463799		2195	4296	6491	-	-	-	SO:0001583	missense	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.493C>A	11.37:g.1463799C>A	ENSP00000432000:p.Leu165Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L211M	ENST00000528841.1	37	c.631	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925037	0.73213	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.71	2.69	0.31865	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123906	0.40385	U	0.001106	T	0.73908	0.3647	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.996;0.998;0.973;0.982	D;D;D;P;P	0.73708	0.981;0.919;0.981;0.896;0.88	T	0.76844	-0.2809	10	0.72032	D	0.01	.	12.3704	0.55252	0.0:0.8288:0.1712:0.0	.	165;211;165;165;165	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	M	165;165;165;165;165;105;105;211	ENSP00000310697:L165M;ENSP00000431152:L165M;ENSP00000310805:L165M;ENSP00000432000:L165M;ENSP00000433370:L165M;ENSP00000432672:L105M;ENSP00000433235:L105M;ENSP00000371614:L211M	ENSP00000310697:L165M	L	+	1	2	BRSK2	1420375	0.991000	0.36638	0.991000	0.47740	0.762000	0.43233	2.947000	0.49058	1.820000	0.53075	0.456000	0.33151	CTG	BRSK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000174672		0.627	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	68	0.00	0	C	NM_003957		1463799	1463799	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.998	A
BTD	686	genome.wustl.edu	37	3	15677076	15677076	+	Missense_Mutation	SNP	G	G	A	rs397514340		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:15677076G>A	ENST00000303498.5	+	2	299	c.190G>A	c.(190-192)Gag>Aag	p.E64K	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000383778.4_Missense_Mutation_p.E44K|BTD_ENST00000437172.1_Missense_Mutation_p.E66K|BTD_ENST00000449107.1_Missense_Mutation_p.E66K	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	64	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGCCGTGTATGAGCATCCATC	0.557																																						dbGAP											0			GRCh37	CM024501	BTD	M							136.0	123.0	127.0					3																	15677076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.190G>A	3.37:g.15677076G>A	ENSP00000306477:p.Glu64Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.E64K	ENST00000303498.5	37	c.190	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479868	0.63849	.	.	ENSG00000169814	ENST00000427382;ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D;D	0.97976	-4.64;-2.55;-2.55;-2.55;-2.55;-2.55	4.72	3.84	0.44239	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.99414	1.0931	10	0.87932	D	0	5.0E-4	12.9721	0.58517	0.0785:0.0:0.9215:0.0	.	66;66;64	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	K	44;66;64;66;44;44	ENSP00000397113:E44K;ENSP00000388212:E66K;ENSP00000306477:E64K;ENSP00000400995:E66K;ENSP00000394277:E44K;ENSP00000373288:E44K	ENSP00000306477:E64K	E	+	1	0	BTD	15652080	1.000000	0.71417	0.833000	0.33012	0.019000	0.09904	5.901000	0.69861	1.000000	0.39049	0.555000	0.69702	GAG	BTD	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000169814		0.557	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	53	0.00	0	G	NM_000060		15677076	15677076	+1	no_errors	ENST00000303498	ensembl	human	known	69_37n	missense	67	17.07	14	SNP	1.000	A
C1orf112	55732	genome.wustl.edu	37	1	169798585	169798585	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:169798585G>A	ENST00000286031.6	+	13	2009	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	C1orf112_ENST00000359326.4_Missense_Mutation_p.E437K|C1orf112_ENST00000413811.2_3'UTR|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	437										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGTTTGCTGAACTGGTAAG	0.378																																						dbGAP											0													208.0	200.0	202.0					1																	169798585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1309G>A	1.37:g.169798585G>A	ENSP00000286031:p.Glu437Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.E437K	ENST00000286031.6	37	c.1309	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788473	0.49997	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.50813	0.73;0.73	5.91	4.99	0.66335	.	0.459425	0.25929	N	0.027388	T	0.26304	0.0642	M	0.70595	2.14	0.80722	D	1	P;P	0.39424	0.673;0.478	B;B	0.37144	0.242;0.173	T	0.41998	-0.9477	10	0.02654	T	1	-9.8654	15.1335	0.72545	0.0:0.1415:0.8585:0.0	.	379;437	B4DGF2;Q9NSG2	.;CA112_HUMAN	K	437	ENSP00000352276:E437K;ENSP00000286031:E437K	ENSP00000286031:E437K	E	+	1	0	C1orf112	168065209	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.376000	0.44292	1.474000	0.48178	0.655000	0.94253	GAA	C1orf112	-	NULL	ENSG00000000460		0.378	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	132	0.75	1	G	NM_018186		169798585	169798585	+1	no_errors	ENST00000286031	ensembl	human	known	69_37n	missense	97	17.80	21	SNP	1.000	A
C4orf50	389197	genome.wustl.edu	37	4	5961272	5961274	+	In_Frame_Del	DEL	GTT	GTT	-	rs201256752		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:5961272_5961274delGTT	ENST00000324058.5	-	7	748_750	c.659_661delAAC	c.(658-663)caacgt>cgt	p.Q220del	C4orf50_ENST00000531445.1_In_Frame_Del_p.Q694del			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	220										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCTTGCAGACGTTGTGCGGGGAG	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.659_661delAAC	4.37:g.5961272_5961274delGTT	ENSP00000317287:p.Gln220del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	NULL	p.Q694in_frame_del	ENST00000324058.5	37	c.2083_2081		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.586	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		68	0.00	0	GTT	NM_207405		5961272	5961274	-1	no_errors	ENST00000531445	ensembl	human	known	69_37n	in_frame_del	21	43.24	16	DEL	0.000:0.000:0.000	-
C5orf34	375444	genome.wustl.edu	37	5	43505873	43505873	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr5:43505873G>A	ENST00000306862.2	-	4	1284	c.909C>T	c.(907-909)agC>agT	p.S303S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	303										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GGACTGGACAGCTGAGTGACA	0.393																																						dbGAP											0													88.0	88.0	88.0					5																	43505873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.909C>T	5.37:g.43505873G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A51V	ENST00000306862.2	37	c.152	CCDS3946.1	5																																																																																			C5orf34	-	NULL	ENSG00000172244		0.393	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	43	0.00	0	G	NM_198566		43505873	43505873	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503655	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	1.000	A
CACNA1A	773	genome.wustl.edu	37	19	13476202	13476202	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:13476202A>C	ENST00000360228.5	-	5	712	c.713T>G	c.(712-714)cTt>cGt	p.L238R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L238R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	238					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAAAAATAAGGATTGCAAA	0.453																																						dbGAP											0													83.0	84.0	84.0					19																	13476202		1873	4096	5969	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.713T>G	19.37:g.13476202A>C	ENSP00000353362:p.Leu238Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.L238R	ENST00000360228.5	37	c.713	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268951	0.59540	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99387	0.9784	H	0.95224	3.64	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98586	1.0652	10	0.87932	D	0	.	14.6926	0.69096	1.0:0.0:0.0:0.0	.	238;238	O00555;Q9NS88	CAC1A_HUMAN;.	R	238	ENSP00000353362:L238R	ENSP00000317661:L238R	L	-	2	0	CACNA1A	13337202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.053000	0.93860	2.105000	0.64084	0.533000	0.62120	CTT	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	45	0.00	0	A	NM_000068		13476202	13476202	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	1.000	C
CACNA2D4	93589	genome.wustl.edu	37	12	2024051	2024051	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr12:2024051G>T	ENST00000382722.5	-	2	640	c.278C>A	c.(277-279)aCc>aAc	p.T93N	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T29N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T93N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T93N|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T29N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T93N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	93					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGAGTATTTGGTCACAGTGTT	0.562																																					Colon(2;101 179 21030 23310 28141)	dbGAP											0													134.0	143.0	140.0					12																	2024051		2013	4174	6187	-	-	-	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.278C>A	12.37:g.2024051G>T	ENSP00000372169:p.Thr93Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T93N	ENST00000382722.5	37	c.278	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982981	0.34942	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06449	3.3	5.57	5.57	0.84162	.	0.233448	0.44097	D	0.000490	T	0.08133	0.0203	L	0.40543	1.245	0.23468	N	0.997617	B;B	0.23316	0.007;0.083	B;B	0.19391	0.02;0.025	T	0.27872	-1.0061	10	0.23891	T	0.37	.	19.229	0.93829	0.0:0.0:1.0:0.0	.	93;93	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	N	29;93;93	ENSP00000372169:T93N	ENSP00000280663:T93N	T	-	2	0	CACNA2D4	1894312	1.000000	0.71417	0.997000	0.53966	0.589000	0.36550	3.021000	0.49651	2.627000	0.88993	0.650000	0.86243	ACC	CACNA2D4	-	NULL	ENSG00000151062		0.562	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	76	0.00	0	G			2024051	2024051	-1	no_errors	ENST00000382722	ensembl	human	known	69_37n	missense	57	39.36	37	SNP	0.984	T
CASP8	841	genome.wustl.edu	37	2	202149565	202149565	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:202149565C>T	ENST00000432109.2	+	9	1018	c.829C>T	c.(829-831)Ctt>Ttt	p.L277F	CASP8_ENST00000264275.5_Missense_Mutation_p.L294F|CASP8_ENST00000358485.4_Missense_Mutation_p.L336F|CASP8_ENST00000323492.7_Missense_Mutation_p.L262F|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.L193F	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	277					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTTGAAGAGCTTCATTTTGA	0.443										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													77.0	73.0	75.0					2																	202149565		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.829C>T	2.37:g.202149565C>T	ENSP00000412523:p.Leu277Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.L336F	ENST00000432109.2	37	c.1006	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939740	0.52972	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.6	5.6	0.85130	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.212639	0.44483	D	0.000447	T	0.57710	0.2072	M	0.82433	2.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.975;0.982;0.998	T	0.61983	-0.6950	10	0.72032	D	0.01	.	19.6188	0.95647	0.0:1.0:0.0:0.0	.	193;336;277;262;294	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	F	262;193;277;294;336;262;56	ENSP00000376091:L262F;ENSP00000264274:L193F;ENSP00000412523:L277F;ENSP00000264275:L294F;ENSP00000351273:L336F;ENSP00000325722:L262F;ENSP00000394434:L56F	ENSP00000264274:L193F	L	+	1	0	CASP8	201857810	0.996000	0.38824	0.957000	0.39632	0.079000	0.17450	3.312000	0.51927	2.646000	0.89796	0.655000	0.94253	CTT	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.443	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	32	0.00	0	C	NM_001228		202149565	202149565	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	34	44.26	27	SNP	0.994	T
CASP8AP2	9994	genome.wustl.edu	37	6	90566882	90566882	+	RNA	SNP	A	A	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:90566882A>C	ENST00000551025.1	+	0	1817									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGGAAATAAACCGCAAGGAT	0.328																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													53.0	49.0	50.0					6																	90566882		1816	4070	5886	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90566882A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.328	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		59	0.00	0	A	NM_001137667		90566882	90566882	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	38	36.67	22	SNP	1.000	C
CD226	10666	genome.wustl.edu	37	18	67613972	67613972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr18:67613972G>C	ENST00000280200.4	-	3	648	c.380C>G	c.(379-381)tCa>tGa	p.S127*	CD226_ENST00000577287.1_5'UTR|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Nonsense_Mutation_p.S127*	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	127					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GCCCTTACCTGACTGAACCAC	0.383																																					NSCLC(184;838 2130 8673 21498 50749)	dbGAP											0													83.0	78.0	80.0					18																	67613972		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.380C>G	18.37:g.67613972G>C	ENSP00000280200:p.Ser127*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R818	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S127*	ENST00000280200.4	37	c.380	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357050	0.61293	.	.	ENSG00000150637	ENST00000280200	.	.	.	5.51	4.64	0.57946	.	0.673877	0.15063	N	0.282657	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.3555	0.43960	0.0905:0.0:0.9095:0.0	.	.	.	.	X	127	.	ENSP00000280200:S127X	S	-	2	0	CD226	65764952	0.997000	0.39634	0.866000	0.34008	0.096000	0.18686	3.285000	0.51716	1.461000	0.47929	0.655000	0.94253	TCA	CD226	-	smart_Ig_sub	ENSG00000150637		0.383	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	32	0.00	0	G	NM_006566		67613972	67613972	-1	no_errors	ENST00000280200	ensembl	human	known	69_37n	nonsense	20	33.33	10	SNP	0.947	C
CDS2	8760	genome.wustl.edu	37	20	5163085	5163085	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr20:5163085C>G	ENST00000460006.1	+	6	889	c.582C>G	c.(580-582)ttC>ttG	p.F194L	CDS2_ENST00000379062.4_Missense_Mutation_p.F74L|CDS2_ENST00000535100.1_Missense_Mutation_p.F15L|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	194					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GACTGCAGTTCTACATGGTAA	0.378																																						dbGAP											0													192.0	163.0	173.0					20																	5163085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.582C>G	20.37:g.5163085C>G	ENSP00000419879:p.Phe194Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.F194L	ENST00000460006.1	37	c.582	CCDS13088.1	20	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420968	0.83559	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062;ENST00000535100	T;T;T	0.52526	0.66;0.69;1.09	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;0.993	D;D;D;D;D	0.97110	0.998;1.0;0.914;0.914;0.914	T	0.64626	-0.6363	10	0.54805	T	0.06	-20.6058	11.3124	0.49372	0.0:0.9173:0.0:0.0827	.	15;74;194;194;194	F6VWC5;E7EQ83;B3KM95;O95674;B3KNK4	.;.;.;CDS2_HUMAN;.	L	194;139;74;15	ENSP00000419879:F194L;ENSP00000403205:F139L;ENSP00000440555:F15L	ENSP00000368352:F74L	F	+	3	2	CDS2	5111085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.904000	0.28491	2.808000	0.96608	0.655000	0.94253	TTC	CDS2	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000101290		0.378	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	133	0.00	0	C			5163085	5163085	+1	no_errors	ENST00000460006	ensembl	human	known	69_37n	missense	63	22.22	18	SNP	1.000	G
CFH	3075	genome.wustl.edu	37	1	196684806	196684806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:196684806G>T	ENST00000367429.4	+	11	1843	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	535	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						attGGACTATGAATGCCATGA	0.363																																						dbGAP											0													249.0	233.0	238.0					1																	196684806		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1603G>T	1.37:g.196684806G>T	ENSP00000356399:p.Glu535*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E535*	ENST00000367429.4	37	c.1603	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.074189	0.97256	.	.	ENSG00000000971	ENST00000367429	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	15.2208	0.73310	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000356399:E535X	E	+	1	0	CFH	194951429	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	2.316000	0.43761	2.661000	0.90470	0.655000	0.94253	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000000971		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	140	0.00	0	G	NM_000186		196684806	196684806	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	nonsense	72	40.50	49	SNP	1.000	T
CHD6	84181	genome.wustl.edu	37	20	40043952	40043952	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr20:40043952C>T	ENST00000373233.3	-	34	6990	c.6813G>A	c.(6811-6813)caG>caA	p.Q2271Q	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2271					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATTGACAATCTGTCCAGTCA	0.537																																						dbGAP											0													84.0	75.0	78.0					20																	40043952		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6813G>A	20.37:g.40043952C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q2271	ENST00000373233.3	37	c.6813	CCDS13317.1	20																																																																																			CHD6	-	NULL	ENSG00000124177		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	78	0.00	0	C			40043952	40043952	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	silent	69	10.39	8	SNP	1.000	T
CNTNAP4	85445	genome.wustl.edu	37	16	76482725	76482725	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr16:76482725T>G	ENST00000476707.1	+	5	952	c.813T>G	c.(811-813)gaT>gaG	p.D271E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D267E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D243E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D267E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	268	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCCTGCTAGATGATCAGCATT	0.488																																						dbGAP											0													125.0	97.0	106.0					16																	76482725		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.813T>G	16.37:g.76482725T>G	ENSP00000417628:p.Asp271Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D267E	ENST00000476707.1	37	c.801		16	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896287	0.72639	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.34	0.625	0.17665	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.165824	0.28241	N	0.016078	D	0.87450	0.6180	.	.	.	0.39096	D	0.961199	D;D;D;D	0.71674	0.998;0.991;0.99;0.973	D;D;D;P	0.79108	0.96;0.938;0.992;0.9	D	0.86226	0.1634	9	0.87932	D	0	.	9.3955	0.38399	0.0:0.2618:0.0:0.7382	.	243;271;243;268	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	267;267;243;271	ENSP00000306893:D267E;ENSP00000439733:D267E;ENSP00000418741:D243E;ENSP00000417628:D271E	ENSP00000306893:D267E	D	+	3	2	CNTNAP4	75040226	0.828000	0.29307	0.992000	0.48379	0.944000	0.59088	-0.142000	0.10311	-0.074000	0.12820	0.533000	0.62120	GAT	CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.488	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	127	0.00	0	T	NM_033401		76482725	76482725	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	1.000	G
CNTNAP4	85445	genome.wustl.edu	37	16	76555164	76555164	+	Silent	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr16:76555164A>G	ENST00000476707.1	+	15	2641	c.2502A>G	c.(2500-2502)ttA>ttG	p.L834L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.L830L|CNTNAP4_ENST00000478060.1_Silent_p.L758L|CNTNAP4_ENST00000377504.4_Silent_p.L782L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	831	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGGTATTTTTAGAGAACTTGG	0.383																																						dbGAP											0													220.0	209.0	212.0					16																	76555164		1809	4065	5874	-	-	-	SO:0001819	synonymous_variant	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2502A>G	16.37:g.76555164A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFZ6|Q86YZ7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L830	ENST00000476707.1	37	c.2490		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.383	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	117	0.00	0	A	NM_033401		76555164	76555164	+1	no_errors	ENST00000307431	ensembl	human	known	69_37n	silent	100	23.66	31	SNP	1.000	G
COL6A5	256076	genome.wustl.edu	37	3	130110337	130110337	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:130110337G>A	ENST00000432398.2	+	7	3226	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H	COL6A5_ENST00000265379.6_Missense_Mutation_p.R911H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	911	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATGGCAGCCGCATCAAGCAA	0.498																																						dbGAP											0													81.0	65.0	70.0					3																	130110337		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2732G>A	3.37:g.130110337G>A	ENSP00000390895:p.Arg911His	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R911H	ENST00000432398.2	37	c.2732		3	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728026	0.48833	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.88046	-2.33;-2.33	5.72	5.72	0.89469	.	.	.	.	.	D	0.94679	0.8284	M	0.90650	3.135	0.46078	D	0.998854	D	0.89917	1.0	D	0.97110	1.0	D	0.95057	0.8192	9	0.62326	D	0.03	.	16.7999	0.85611	0.0:0.0:1.0:0.0	.	911	A8TX70-2	.	H	911	ENSP00000390895:R911H;ENSP00000265379:R911H	ENSP00000265379:R911H	R	+	2	0	COL6A5	131593027	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	6.708000	0.74660	2.705000	0.92388	0.655000	0.94253	CGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.498	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		35	0.00	0	G	NM_153264		130110337	130110337	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.999	A
CSMD1	64478	genome.wustl.edu	37	8	2813173	2813173	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:2813173C>T	ENST00000520002.1	-	65	10490	c.9935G>A	c.(9934-9936)gGa>gAa	p.G3312E	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3135E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3312E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3134E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3311E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3135E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3312	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.		G -> W (in dbSNP:rs34079122).			integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCTCAGATCCCCCTGCGAG	0.493																																						dbGAP											0													145.0	137.0	140.0					8																	2813173		1979	4183	6162	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9935G>A	8.37:g.2813173C>T	ENSP00000430733:p.Gly3312Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G3312E	ENST00000520002.1	37	c.9935		8	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543217	0.86022	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.68339	0.2990	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.60058	-0.7337	10	0.11794	T	0.64	.	19.7147	0.96110	0.0:1.0:0.0:0.0	.	3312;3312;3134	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	E	3135;3312;3173;3311;3134	ENSP00000383047:G3135E;ENSP00000430733:G3312E;ENSP00000441462:G3311E;ENSP00000446243:G3134E	ENSP00000320445:G3173E	G	-	2	0	CSMD1	2800580	1.000000	0.71417	0.191000	0.23289	0.671000	0.39405	7.642000	0.83385	2.656000	0.90262	0.460000	0.39030	GGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	85	0.00	0	C	NM_033225		2813173	2813173	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	37	43.94	29	SNP	1.000	T
ACKR3	57007	genome.wustl.edu	37	2	237489606	237489606	+	Silent	SNP	C	C	T	rs574912756		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:237489606C>T	ENST00000272928.3	+	2	808	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	166					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TCGTCTGCATCCTGGTGTGGC	0.577																																						dbGAP											0													167.0	146.0	153.0					2																	237489606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.498C>T	2.37:g.237489606C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.I166	ENST00000272928.3	37	c.498	CCDS2516.1	2																																																																																			CXCR7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000144476		0.577	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	51	0.00	0	C	NM_020311		237489606	237489606	+1	no_errors	ENST00000272928	ensembl	human	known	69_37n	silent	33	21.43	9	SNP	0.053	T
CXorf40A	91966	genome.wustl.edu	37	X	148627223	148627223	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:148627223T>A	ENST00000441248.1	+	3	1634	c.47T>A	c.(46-48)gTc>gAc	p.V16D	CXorf40A_ENST00000423421.1_Missense_Mutation_p.V16D|CXorf40A_ENST00000359293.5_Missense_Mutation_p.V16D|CXorf40A_ENST00000514208.1_Missense_Mutation_p.V16D|CXorf40A_ENST00000423540.2_Missense_Mutation_p.V16D|CXorf40A_ENST00000422892.2_Missense_Mutation_p.V16D|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000393985.3_Missense_Mutation_p.V16D|CXorf40A_ENST00000450602.2_Missense_Mutation_p.V16D|CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000434353.2_Missense_Mutation_p.V16D			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	16										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCTGGCTTTGTCTTAAATGGA	0.597																																						dbGAP											0													29.0	24.0	26.0					X																	148627223		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.47T>A	X.37:g.148627223T>A	ENSP00000423099:p.Val16Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	superfamily_PUA-like_domain	p.V16D	ENST00000441248.1	37	c.47	CCDS14687.1	X	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149408	0.57151	.	.	ENSG00000197620	ENST00000431132;ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	3.55	3.55	0.40652	PUA-like domain (1);	0.498482	0.21423	N	0.074783	D	0.93494	0.7924	M	0.74881	2.28	0.20821	N	0.999846	P;P;D	0.58268	0.95;0.899;0.982	P;P;P	0.58454	0.735;0.495;0.839	D	0.86718	0.1940	10	0.87932	D	0	.	6.2938	0.21075	0.0:0.1171:0.0:0.8829	.	16;16;16	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	D	16	ENSP00000427540:V16D;ENSP00000423099:V16D;ENSP00000421745:V16D;ENSP00000422512:V16D;ENSP00000425520:V16D;ENSP00000423160:V16D;ENSP00000423708:V16D;ENSP00000422312:V16D;ENSP00000420882:V16D	ENSP00000420882:V16D	V	+	2	0	CXorf40A	148435128	0.653000	0.27358	0.002000	0.10522	0.753000	0.42808	4.290000	0.59019	1.442000	0.47568	0.366000	0.22137	GTC	CXorf40A	-	superfamily_PUA-like_domain	ENSG00000197620		0.597	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf40A	HGNC	protein_coding	OTTHUMT00000058699.3	62	0.00	0	T	NM_178124		148627223	148627223	+1	no_errors	ENST00000359293	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.019	A
DLGAP2	9228	genome.wustl.edu	37	8	1581131	1581131	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:1581131C>A	ENST00000421627.2	+	5	1623	c.1489C>A	c.(1489-1491)Caa>Aaa	p.Q497K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	576					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCGAGCCATTCAAGCCGGCTA	0.537																																						dbGAP											0													104.0	109.0	107.0					8																	1581131		2135	4245	6380	-	-	-	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1489C>A	8.37:g.1581131C>A	ENSP00000400258:p.Gln497Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.Q497K	ENST00000421627.2	37	c.1489	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.736322|4.736322	0.89482|0.89482	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|D	.|0.91011	.|-2.77	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95987|0.95987	0.8693|0.8693	M|M	0.87900|0.87900	2.915|2.915	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D	.|0.69078	.|0.997;0.995	.|D;D	.|0.77557	.|0.99;0.977	D|D	0.96599|0.96599	0.9443|0.9443	5|10	.|0.87932	.|D	.|0	-10.7061|-10.7061	18.7837|18.7837	0.91946|0.91946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|576;576	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	L|K	513|542;497	.|ENSP00000400258:Q497K	.|ENSP00000348366:Q542K	F|Q	+|+	3|1	2|0	DLGAP2|DLGAP2	1568538|1568538	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.736000|0.736000	0.42039|0.42039	7.354000|7.354000	0.79424|0.79424	2.475000|2.475000	0.83589|0.83589	0.555000|0.555000	0.69702|0.69702	TTC|CAA	DLGAP2	-	NULL	ENSG00000198010		0.537	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	91	0.00	0	C	NM_004745		1581131	1581131	+1	no_errors	ENST00000421627	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196837175	196837175	+	Missense_Mutation	SNP	C	C	T	rs576171778	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:196837175C>T	ENST00000312428.6	-	16	1949	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	617	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTACCTCCACTTTCTGAATG	0.403													C|||	4	0.000798722	0.0	0.0	5008	,	,		18585	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													113.0	106.0	108.0					2																	196837175		1876	4105	5981	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1849G>A	2.37:g.196837175C>T	ENSP00000311273:p.Val617Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.V617M	ENST00000312428.6	37	c.1849	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218598	0.39201	.	.	ENSG00000118997	ENST00000312428	T	0.23552	1.9	4.75	3.86	0.44501	.	0.158551	0.39759	N	0.001267	T	0.28400	0.0702	L	0.58302	1.8	0.80722	D	1	B	0.18863	0.031	B	0.24006	0.05	T	0.06607	-1.0817	10	0.41790	T	0.15	.	14.407	0.67088	0.1486:0.8514:0.0:0.0	.	617	Q8WXX0	DYH7_HUMAN	M	617	ENSP00000311273:V617M	ENSP00000311273:V617M	V	-	1	0	DNAH7	196545420	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.728000	0.47319	1.099000	0.41499	0.557000	0.71058	GTG	DNAH7	-	NULL	ENSG00000118997		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	82	0.00	0	C	NM_018897		196837175	196837175	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	1.000	T
DNAJC16	23341	genome.wustl.edu	37	1	15892576	15892576	+	Splice_Site	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:15892576G>T	ENST00000375847.3	+	13	1843		c.e13-1		DNAJC16_ENST00000375849.1_Splice_Site|DNAJC16_ENST00000375838.1_Splice_Site|DNAJC16_ENST00000483270.1_Splice_Site|RP4-680D5.8_ENST00000606186.1_RNA	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16						cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCTTACTTTAGCGACTCTAAT	0.453																																						dbGAP											0													132.0	142.0	138.0					1																	15892576		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1680-1G>T	1.37:g.15892576G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D57|Q86X32|Q8N5P4	Splice_Site	SNP	-	e12-1	ENST00000375847.3	37	c.1680-1	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632259	0.29068	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9754	0.86311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC16	15765163	1.000000	0.71417	0.990000	0.47175	0.004000	0.04260	7.606000	0.82863	2.797000	0.96272	0.563000	0.77884	.	DNAJC16	-	-	ENSG00000116138		0.453	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	87	0.00	0	G	NM_015291	Intron	15892576	15892576	+1	no_errors	ENST00000375847	ensembl	human	known	69_37n	splice_site	33	28.26	13	SNP	1.000	T
DOK2	9046	genome.wustl.edu	37	8	21767238	21767238	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:21767238G>A	ENST00000276420.4	-	5	1081	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	DOK2_ENST00000544659.1_Missense_Mutation_p.H121Y	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	275	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGTGAGTCATGCGGCCGAGAG	0.692																																						dbGAP											0													48.0	55.0	52.0					8																	21767238		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.823C>T	8.37:g.21767238G>A	ENSP00000276420:p.His275Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5A4	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.H275Y	ENST00000276420.4	37	c.823	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	G	6.900	0.535579	0.13188	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.44881	1.89;1.46;0.91	5.42	5.42	0.78866	.	0.218239	0.38897	N	0.001533	T	0.33673	0.0871	M	0.72479	2.2	0.40721	D	0.982662	B;B	0.31485	0.325;0.325	B;B	0.21917	0.037;0.037	T	0.21280	-1.0250	10	0.02654	T	1	.	10.1998	0.43075	0.0906:0.0:0.9094:0.0	.	275;275	O60496;A8K7W1	DOK2_HUMAN;.	Y	275;121;121	ENSP00000276420:H275Y;ENSP00000443602:H121Y;ENSP00000430729:H121Y	ENSP00000276420:H275Y	H	-	1	0	DOK2	21823184	0.091000	0.21658	0.999000	0.59377	0.152000	0.21847	0.378000	0.20569	2.541000	0.85698	0.655000	0.94253	CAT	DOK2	-	NULL	ENSG00000147443		0.692	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	HGNC	protein_coding	OTTHUMT00000253735.3	52	0.00	0	G	NM_003974		21767238	21767238	-1	no_errors	ENST00000276420	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.998	A
DQX1	165545	genome.wustl.edu	37	2	74750598	74750598	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:74750598G>T	ENST00000404568.3	-	5	1102	c.883C>A	c.(883-885)Cca>Aca	p.P295T	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.P295T	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	295	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGTACTCGTGGTGGAAGCCCT	0.562																																						dbGAP											0													119.0	112.0	115.0					2																	74750598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.883C>A	2.37:g.74750598G>T	ENSP00000384621:p.Pro295Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P295T	ENST00000404568.3	37	c.883	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687767	0.29962	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02369	4.32;4.32	5.47	3.57	0.40892	Helicase, C-terminal (1);	0.338132	0.28409	N	0.015442	T	0.01320	0.0043	N	0.02225	-0.63	0.09310	N	1	B	0.33073	0.396	B	0.32211	0.142	T	0.46345	-0.9198	10	0.87932	D	0	-23.0869	5.5676	0.17179	0.1629:0.0:0.6657:0.1715	.	295	Q8TE96	DQX1_HUMAN	T	295	ENSP00000377523:P295T;ENSP00000384621:P295T	ENSP00000377523:P295T	P	-	1	0	DQX1	74604106	0.983000	0.35010	0.719000	0.30619	0.327000	0.28475	3.866000	0.56040	2.563000	0.86464	0.561000	0.74099	CCA	DQX1	-	NULL	ENSG00000144045		0.562	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	33	0.00	0	G	NM_133637		74750598	74750598	-1	no_errors	ENST00000393951	ensembl	human	known	69_37n	missense	20	55.56	25	SNP	0.012	T
UPK3B	80761	genome.wustl.edu	37	7	76631515	76631515	+	Intron	SNP	G	G	A	rs61737189	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:76631515G>A	ENST00000419923.2	+	6	1408				UPK3B_ENST00000443097.2_Intron|DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A7A(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				TGTCCGCAGCGTCTGGATACA	0.617																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)																																								-	-	-	SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-16626G>A	7.37:g.76631515G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			DTX2P1-UPK3BP1-PMS2P11	-	-	ENSG00000265479		0.617	UPK3B-201	KNOWN	basic|CCDS	protein_coding	DTX2P1-UPK3BP1-PMS2P11	HGNC	protein_coding		31	0.00	0	G	NM_030570		76631515	76631515	+1	no_errors	ENST00000579700	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	0.111	A
DUSP10	11221	genome.wustl.edu	37	1	221912294	221912294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:221912294delC	ENST00000366899.3	-	2	1031	c.793delG	c.(793-795)gaafs	p.E265fs	DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	265	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ACCAGAGGTTCTTTGCCTTCT	0.488																																						dbGAP											0													160.0	167.0	165.0					1																	221912294		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.793delG	1.37:g.221912294delC	ENSP00000355866:p.Glu265fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB4|Q6GSI4|Q9H9Z5	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.E265fs	ENST00000366899.3	37	c.793	CCDS1528.1	1																																																																																			DUSP10	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000143507		0.488	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	94	0.00	0	C	NM_007207		221912294	221912294	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	frame_shift_del	98	11.50	13	DEL	1.000	-
EFS	10278	genome.wustl.edu	37	14	23829243	23829243	+	Silent	SNP	G	G	A	rs547155652		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr14:23829243G>A	ENST00000216733.3	-	4	1051	c.444C>T	c.(442-444)taC>taT	p.Y148Y	EFS_ENST00000429593.2_Silent_p.Y55Y|EFS_ENST00000351354.3_Silent_p.Y55Y	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	148	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGCACATCGTAGACCTGCG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15373	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													44.0	45.0	45.0					14																	23829243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.444C>T	14.37:g.23829243G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.Y148	ENST00000216733.3	37	c.444	CCDS9595.1	14																																																																																			EFS	-	NULL	ENSG00000100842		0.642	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2	28	0.00	0	G			23829243	23829243	-1	no_errors	ENST00000216733	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	0.985	A
ELL2	22936	genome.wustl.edu	37	5	95234001	95234001	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr5:95234001G>T	ENST00000237853.4	-	8	1817	c.1468C>A	c.(1468-1470)Ctt>Att	p.L490I	ELL2_ENST00000431061.2_Missense_Mutation_p.L240I	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	490					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TCTCTCTTAAGATCTTCCTCC	0.363																																						dbGAP											0													119.0	126.0	124.0					5																	95234001		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1468C>A	5.37:g.95234001G>T	ENSP00000237853:p.Leu490Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L490I	ENST00000237853.4	37	c.1468	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133916	0.21123	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T	0.24350	1.86	5.5	3.56	0.40772	.	0.576112	0.17485	N	0.172566	T	0.15219	0.0367	N	0.22421	0.69	0.30981	N	0.722492	B	0.02656	0.0	B	0.01281	0.0	T	0.07673	-1.0760	10	0.37606	T	0.19	2.4243	6.1248	0.20174	0.0747:0.136:0.6487:0.1406	.	490	O00472	ELL2_HUMAN	I	490;240	ENSP00000237853:L490I	ENSP00000237853:L490I	L	-	1	0	ELL2	95259757	0.002000	0.14202	0.999000	0.59377	0.818000	0.46254	0.297000	0.19101	1.262000	0.44165	0.591000	0.81541	CTT	ELL2	-	NULL	ENSG00000118985		0.363	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	82	0.00	0	G	NM_012081		95234001	95234001	-1	no_errors	ENST00000237853	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	0.999	T
ZBTB8B	728116	genome.wustl.edu	37	1	32946500	32946500	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:32946500C>A	ENST00000609129.1	+	3	1078	c.1000C>A	c.(1000-1002)Ctg>Atg	p.L334M	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.L334M	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						AGGTGATGTGCTGGTGGTCCC	0.562																																						dbGAP											0													97.0	86.0	89.0					1																	32946500		692	1591	2283	-	-	-	SO:0001583	missense	0			AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.1000C>A	1.37:g.32946500C>A	ENSP00000476499:p.Leu334Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L334M	ENST00000609129.1	37	c.1000	CCDS44104.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202313	0.58234	.	.	ENSG00000215897	ENST00000415091	T	0.13196	2.61	5.05	2.66	0.31614	.	0.000000	0.64402	D	0.000002	T	0.18635	0.0447	N	0.19112	0.55	0.42950	D	0.994371	D	0.76494	0.999	D	0.76071	0.987	T	0.02567	-1.1140	10	0.33940	T	0.23	.	9.5458	0.39279	0.0:0.716:0.0:0.284	.	334	Q8NAP8	ZBT8B_HUMAN	M	334	ENSP00000400836:L334M	ENSP00000435749:L334M	L	+	1	2	ZBTB8B	32719087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.592000	0.23984	0.719000	0.32188	0.655000	0.94253	CTG	RP1-27O5.3	-	NULL	ENSG00000254553		0.562	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254553	Clone_based_vega_gene	protein_coding	OTTHUMT00000392986.2	74	0.00	0	C	NM_001145720		32946500	32946500	+1	no_errors	ENST00000480336	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	1.000	A
EPHA3	2042	genome.wustl.edu	37	3	89390198	89390198	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:89390198A>T	ENST00000336596.2	+	4	1172	c.947A>T	c.(946-948)gAc>gTc	p.D316V	EPHA3_ENST00000452448.2_Missense_Mutation_p.D316V|EPHA3_ENST00000494014.1_Missense_Mutation_p.D316V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	316	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAGACAAAGACCCTCCATCC	0.443										TSP Lung(6;0.00050)																												dbGAP											0													154.0	154.0	154.0					3																	89390198		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.947A>T	3.37:g.89390198A>T	ENSP00000337451:p.Asp316Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2V3|Q9H2V4	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_2,pfam_SAM_type1,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.D316V	ENST00000336596.2	37	c.947	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447655	0.84101	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.97256	-4.31;-4.31;-4.31	6.17	6.17	0.99709	.	0.043625	0.85682	D	0.000000	D	0.98760	0.9583	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.77557	0.598;0.99	D	0.99612	1.0981	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	316;316	P29320;P29320-2	EPHA3_HUMAN;.	V	316	ENSP00000337451:D316V;ENSP00000399926:D316V;ENSP00000419190:D316V	.	D	+	2	0	EPHA3	89472888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt	ENSG00000044524		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	68	0.00	0	A	NM_005233		89390198	89390198	+1	no_errors	ENST00000336596	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	1.000	T
EPHB2	2048	genome.wustl.edu	37	1	23237037	23237037	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:23237037A>G	ENST00000400191.3	+	14	2683	c.2665A>G	c.(2665-2667)Agc>Ggc	p.S889G	EPHB2_ENST00000374630.3_Missense_Mutation_p.S889G|EPHB2_ENST00000374632.3_Missense_Mutation_p.S890G|EPHB2_ENST00000374627.1_Missense_Mutation_p.S884G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	889					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAATCCCAACAGCCTCAAAGC	0.627																																						dbGAP											0													77.0	61.0	67.0					1																	23237037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2665A>G	1.37:g.23237037A>G	ENSP00000383053:p.Ser889Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43477|Q5T0U6|Q5T0U7|Q5T0U8	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.S889G	ENST00000400191.3	37	c.2665		1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516569	0.64634	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.55	4.55	0.56014	Protein kinase-like domain (1);	0.050273	0.85682	D	0.000000	T	0.62085	0.2399	M	0.80422	2.495	0.80722	D	1	B;P;P;B	0.39060	0.025;0.657;0.518;0.112	B;B;B;B	0.33960	0.007;0.173;0.113;0.171	T	0.70952	-0.4732	10	0.87932	D	0	.	13.1778	0.59637	1.0:0.0:0.0:0.0	.	831;889;907;890	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	G	831;889;889;890;884	ENSP00000363761:S889G;ENSP00000383053:S889G;ENSP00000363763:S890G;ENSP00000363758:S884G	ENSP00000363755:S831G	S	+	1	0	EPHB2	23109624	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.327000	0.79147	2.052000	0.61016	0.397000	0.26171	AGC	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000133216		0.627	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	30	0.00	0	A	NM_017449		23237037	23237037	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	1.000	G
FAT3	120114	genome.wustl.edu	37	11	92577403	92577403	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:92577403G>T	ENST00000298047.6	+	18	10887	c.10870G>T	c.(10870-10872)Gat>Tat	p.D3624Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D3474Y|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000409404.2_Missense_Mutation_p.D3624Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3624	Cadherin 33. {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)				GTCTGTGAGTGATGGTCGCTT	0.502										TCGA Ovarian(4;0.039)																												dbGAP											0													164.0	170.0	168.0					11																	92577403		2157	4268	6425	-	-	-	SO:0001583	missense	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.10870G>T	11.37:g.92577403G>T	ENSP00000298047:p.Asp3624Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	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.D3624Y	ENST00000298047.6	37	c.10870		11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576090	0.86645	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58210	0.35;0.35;0.35	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.80188	0.4577	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83680	0.0171	9	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3624;3624	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Y	3624;3624;3474	ENSP00000298047:D3624Y;ENSP00000387040:D3624Y;ENSP00000432586:D3474Y	ENSP00000298047:D3624Y	D	+	1	0	FAT3	92217051	1.000000	0.71417	0.747000	0.31113	0.975000	0.68041	9.787000	0.99055	2.756000	0.94617	0.561000	0.74099	GAT	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.502	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		39	0.00	0	G	NM_001008781		92577403	92577403	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	T
EXPH5	23086	genome.wustl.edu	37	11	108380564	108380564	+	Silent	SNP	C	C	A	rs147293762	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:108380564C>A	ENST00000265843.4	-	6	5780	c.5670G>T	c.(5668-5670)ggG>ggT	p.G1890G	EXPH5_ENST00000525344.1_Silent_p.G1883G|EXPH5_ENST00000428840.1_Silent_p.G1814G|EXPH5_ENST00000443411.1_Silent_p.G1702G	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1890					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTGTTCTTTCCCAAAGATCC	0.408																																						dbGAP											0													73.0	77.0	75.0					11																	108380564		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5670G>T	11.37:g.108380564C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.G1890	ENST00000265843.4	37	c.5670	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	44	0.00	0	C	NM_015065		108380564	108380564	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	A
FBLN2	2199	genome.wustl.edu	37	3	13669464	13669464	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:13669464G>C	ENST00000295760.7	+	10	2492	c.2423G>C	c.(2422-2424)tGt>tCt	p.C808S	FBLN2_ENST00000535798.1_Missense_Mutation_p.C834S|FBLN2_ENST00000492059.1_Missense_Mutation_p.C855S|FBLN2_ENST00000404922.3_Missense_Mutation_p.C855S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	808	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAAGGCAACTGTGTGGGTGAG	0.622																																						dbGAP											0													63.0	68.0	66.0					3																	13669464		2026	4184	6210	-	-	-	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2423G>C	3.37:g.13669464G>C	ENSP00000295760:p.Cys808Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.C855S	ENST00000295760.7	37	c.2564	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453639	0.63290	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99913	-5.89;-5.89;-7.97;-5.89	5.74	5.74	0.90152	EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92077	3.27	0.80722	D	1	B;B;B	0.27625	0.183;0.042;0.072	B;B;B	0.32805	0.153;0.065;0.065	D	0.95316	0.8416	10	0.87932	D	0	.	19.5228	0.95192	0.0:0.0:1.0:0.0	.	808;855;834	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	834;855;808;855	ENSP00000445705:C834S;ENSP00000384169:C855S;ENSP00000295760:C808S;ENSP00000420042:C855S	ENSP00000295760:C808S	C	+	2	0	FBLN2	13644465	1.000000	0.71417	0.973000	0.42090	0.605000	0.37080	9.258000	0.95555	2.721000	0.93114	0.609000	0.83330	TGT	FBLN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000163520		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	35	0.00	0	G	NM_001004019		13669464	13669464	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	C
FBN1	2200	genome.wustl.edu	37	15	48736765	48736765	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr15:48736765A>G	ENST00000316623.5	-	49	6465	c.6010T>C	c.(6010-6012)Tac>Cac	p.Y2004H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2004	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAAGACTGTATCCAGGTGGG	0.433																																						dbGAP											0													156.0	143.0	147.0					15																	48736765		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6010T>C	15.37:g.48736765A>G	ENSP00000325527:p.Tyr2004His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.Y2004H	ENST00000316623.5	37	c.6010	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	29.7	5.029007	0.93518	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.95554	-3.74	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.68593	2.085	0.80722	D	1	D	0.61080	0.989	P	0.58172	0.834	D	0.96875	0.9642	10	0.62326	D	0.03	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	2004	P35555	FBN1_HUMAN	H	2004;572;894	ENSP00000325527:Y2004H	ENSP00000325527:Y2004H	Y	-	1	0	FBN1	46524057	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.791000	0.91849	2.326000	0.78906	0.533000	0.62120	TAC	FBN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	74	0.00	0	A			48736765	48736765	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	1.000	G
FBXW10	10517	genome.wustl.edu	37	17	18681814	18681814	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:18681814C>G	ENST00000395665.4	+	14	2583	c.2362C>G	c.(2362-2364)Caa>Gaa	p.Q788E	FBXW10_ENST00000301938.4_Missense_Mutation_p.Q735E|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q787E|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000308799.4_Missense_Mutation_p.Q797E			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	788										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGCACAAAAACAAGGACAATT	0.368																																						dbGAP											0													48.0	43.0	45.0					17																	18681814		2200	4298	6498	-	-	-	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2362C>G	17.37:g.18681814C>G	ENSP00000379025:p.Gln788Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q797E	ENST00000395665.4	37	c.2389	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	C	1.622	-0.521350	0.04171	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61158	0.16;0.4;0.13;0.29	3.52	-0.0243	0.13939	.	2.730130	0.02509	N	0.091316	T	0.41396	0.1157	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.09377	0.004;0.004;0.003;0.004	T	0.31752	-0.9932	10	0.02654	T	1	.	10.8813	0.46939	0.0:0.419:0.581:0.0	.	735;797;788;787	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	E	787;797;735;788	ENSP00000379026:Q787E;ENSP00000310382:Q797E;ENSP00000306937:Q735E;ENSP00000379025:Q788E	ENSP00000306937:Q735E	Q	+	1	0	FBXW10	18622539	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.917000	0.04025	-0.170000	0.10816	-0.688000	0.03733	CAA	FBXW10	-	NULL	ENSG00000171931		0.368	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	52	0.00	0	C	NM_031456		18681814	18681814	+1	no_errors	ENST00000308799	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.000	G
FLG	2312	genome.wustl.edu	37	1	152279942	152279942	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:152279942G>C	ENST00000368799.1	-	3	7455	c.7420C>G	c.(7420-7422)Cag>Gag	p.Q2474E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2474	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATCCCTGCCTTCCTCCA	0.577									Ichthyosis																													dbGAP											0													369.0	341.0	350.0					1																	152279942		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7420C>G	1.37:g.152279942G>C	ENSP00000357789:p.Gln2474Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q2474E	ENST00000368799.1	37	c.7420	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.001	-0.002573	0.07819	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.41	2.46	0.29980	.	.	.	.	.	T	0.01489	0.0048	M	0.80028	2.48	0.09310	N	1	D	0.61697	0.99	P	0.54629	0.757	T	0.22312	-1.0220	9	0.02654	T	1	.	7.3466	0.26666	0.1337:0.0:0.8663:0.0	.	2474	P20930	FILA_HUMAN	E	2474	ENSP00000357789:Q2474E	ENSP00000357789:Q2474E	Q	-	1	0	FLG	150546566	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	1.711000	0.37930	0.534000	0.28695	0.306000	0.20318	CAG	FLG	-	NULL	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	175	0.00	0	G	NM_002016		152279942	152279942	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	122	23.75	38	SNP	0.001	C
FST	10468	genome.wustl.edu	37	5	52779551	52779551	+	Splice_Site	SNP	A	A	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr5:52779551A>C	ENST00000256759.3	+	3	878	c.495A>C	c.(493-495)aaA>aaC	p.K165N	FST_ENST00000396947.3_Splice_Site_p.K165N	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	165	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GCAGATGTAAAAGTAGGTCCT	0.512																																						dbGAP											0													50.0	45.0	47.0					5																	52779551		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.496+1A>C	5.37:g.52779551A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU94|Q9BTH0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.K165N	ENST00000256759.3	37	c.495	CCDS3959.1	5	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067098	0.76301	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.75154	1.4;1.63;-0.91	5.95	4.77	0.60923	.	0.040412	0.85682	N	0.000000	T	0.77329	0.4114	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	P	0.55455	0.776	T	0.76737	-0.2849	10	0.45353	T	0.12	-17.7588	13.2471	0.60029	0.8673:0.1327:0.0:0.0	.	165	P19883	FST_HUMAN	N	165;165;165;37	ENSP00000256759:K165N;ENSP00000380151:K165N;ENSP00000426315:K37N	ENSP00000256759:K165N	K	+	3	2	FST	52815308	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.283000	0.65621	1.047000	0.40274	0.402000	0.26972	AAA	FST	-	NULL	ENSG00000134363		0.512	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1	17	0.00	0	A	NM_013409	Missense_Mutation	52779551	52779551	+1	no_errors	ENST00000256759	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	C
GALNT18	374378	genome.wustl.edu	37	11	11454295	11454295	+	Silent	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:11454295C>G	ENST00000227756.4	-	3	879	c.468G>C	c.(466-468)gtG>gtC	p.V156V		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	156	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACACGATGCTCACCTCTGGCA	0.547																																						dbGAP											0													94.0	79.0	84.0					11																	11454295		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.468G>C	11.37:g.11454295C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95903|Q8NDY9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V156	ENST00000227756.4	37	c.468	CCDS7807.1	11																																																																																			GALNTL4	-	NULL	ENSG00000110328		0.547	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	HGNC	protein_coding	OTTHUMT00000385848.1	66	0.00	0	C	NM_198516		11454295	11454295	-1	no_errors	ENST00000227756	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	1.000	G
GINS4	84296	genome.wustl.edu	37	8	41397271	41397271	+	Silent	SNP	G	G	T	rs142553733	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:41397271G>T	ENST00000276533.3	+	5	582	c.372G>T	c.(370-372)ccG>ccT	p.P124P	RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Silent_p.P124P|GINS4_ENST00000523277.2_Silent_p.P124P|RP11-360L9.7_ENST00000578500.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	124					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GCCTCTCGCCGGAAGAGTTGG	0.547																																						dbGAP											0													67.0	65.0	66.0					8																	41397271		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.372G>T	8.37:g.41397271G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8H5|D3DSY0|Q8N648	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Sld5	p.P124	ENST00000276533.3	37	c.372	CCDS6116.1	8																																																																																			GINS4	-	pfam_GINS_complex,pirsf_GINS_Sld5	ENSG00000147536		0.547	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS4	HGNC	protein_coding	OTTHUMT00000377150.1	47	0.00	0	G	NM_032336		41397271	41397271	+1	no_errors	ENST00000276533	ensembl	human	known	69_37n	silent	28	30.00	12	SNP	0.674	T
GPRC6A	222545	genome.wustl.edu	37	6	117130674	117130674	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:117130674C>G	ENST00000310357.3	-	2	322	c.301G>C	c.(301-303)Gac>Cac	p.D101H	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D101H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D101H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	101					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTACAAGTGTCATAGATTTCA	0.398																																						dbGAP											0													107.0	98.0	101.0					6																	117130674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.301G>C	6.37:g.117130674C>G	ENSP00000309493:p.Asp101His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.D101H	ENST00000310357.3	37	c.301	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341244	0.81911	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.92099	-2.97;-2.97;-2.97	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.96753	0.8940	M	0.91196	3.185	0.39750	D	0.971874	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97684	1.0174	10	0.87932	D	0	.	18.0766	0.89428	0.0:1.0:0.0:0.0	.	101;101;101	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	101	ENSP00000309493:D101H;ENSP00000357537:D101H;ENSP00000433465:D101H	ENSP00000309493:D101H	D	-	1	0	GPRC6A	117237367	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.182000	0.65059	2.491000	0.84063	0.650000	0.86243	GAC	GPRC6A	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	ENSG00000173612		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	86	0.00	0	C			117130674	117130674	-1	no_errors	ENST00000310357	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	G
HCN4	10021	genome.wustl.edu	37	15	73615583	73615583	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr15:73615583C>A	ENST00000261917.3	-	8	3844	c.2851G>T	c.(2851-2853)Ggc>Tgc	p.G951C		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	951	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTCCCAGGCCTCCCCGGGCC	0.741																																						dbGAP											0													5.0	7.0	6.0					15																	73615583		1825	3867	5692	-	-	-	SO:0001583	missense	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2851G>T	15.37:g.73615583C>A	ENSP00000261917:p.Gly951Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.G951C	ENST00000261917.3	37	c.2851	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	C	7.560	0.664493	0.14710	.	.	ENSG00000138622	ENST00000261917	D	0.98012	-4.66	2.93	2.0	0.26442	.	.	.	.	.	D	0.94574	0.8252	L	0.43152	1.355	0.09310	N	1	B	0.28760	0.221	B	0.27170	0.077	D	0.89606	0.3838	9	0.62326	D	0.03	.	6.2591	0.20889	0.0:0.7267:0.0:0.2733	.	951	Q9Y3Q4	HCN4_HUMAN	C	951	ENSP00000261917:G951C	ENSP00000261917:G951C	G	-	1	0	HCN4	71402636	0.000000	0.05858	0.763000	0.31416	0.643000	0.38383	0.052000	0.14163	0.439000	0.26476	-0.395000	0.06472	GGC	HCN4	-	NULL	ENSG00000138622		0.741	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	16	0.00	0	C	NM_005477		73615583	73615583	-1	no_errors	ENST00000261917	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.003	A
HIP1	3092	genome.wustl.edu	37	7	75192287	75192287	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:75192287C>T	ENST00000336926.6	-	11	998	c.972G>A	c.(970-972)gaG>gaA	p.E324E	HIP1_ENST00000434438.2_Silent_p.E324E	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	324					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.E324E(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTAGGACTGGCTCGCTGTCGG	0.567			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - coding silent(1)	large_intestine(1)											63.0	59.0	61.0					7																	75192287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.972G>A	7.37:g.75192287C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.E324	ENST00000336926.6	37	c.972	CCDS34669.1	7																																																																																			HIP1	-	NULL	ENSG00000127946		0.567	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	58	0.00	0	C	NM_005338		75192287	75192287	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	silent	33	31.25	15	SNP	1.000	T
KCNH1	3756	genome.wustl.edu	37	1	210856854	210856854	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:210856854C>T	ENST00000271751.4	-	11	2766	c.2739G>A	c.(2737-2739)tcG>tcA	p.S913S	KCNH1_ENST00000367007.4_Silent_p.S886S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	913					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGGGTAGAACGAATGCTTGA	0.582																																						dbGAP											0													68.0	58.0	62.0					1																	210856854		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2739G>A	1.37:g.210856854C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ26|O76035|Q14CL3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S913	ENST00000271751.4	37	c.2739	CCDS1496.1	1																																																																																			KCNH1	-	NULL	ENSG00000143473		0.582	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	42	0.00	0	C	NM_002238		210856854	210856854	-1	no_errors	ENST00000271751	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.000	T
KDM4E	390245	genome.wustl.edu	37	11	94760221	94760221	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:94760221G>A	ENST00000450979.2	+	1	1800	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	500					histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CCAATGATTTGATGACAAATC	0.552																																						dbGAP											0													62.0	54.0	56.0					11																	94760221		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.1500G>A	11.37:g.94760221G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L500	ENST00000450979.2	37	c.1500	CCDS44713.1	11																																																																																			KDM4E	-	NULL	ENSG00000235268		0.552	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	32	0.00	0	G	NM_001161630		94760221	94760221	+1	no_errors	ENST00000450979	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	0.001	A
KDM6A	7403	genome.wustl.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:44969495G>C	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											105.0	97.0	100.0					X																	44969495		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1G>C	X.37:g.44969495G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e28+1	ENST00000377967.4	37	c.4197+1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338605	0.81911	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7744	0.91904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.379000	0.81126	0.600000	0.82982	.	KDM6A	-	-	ENSG00000147050		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	68	0.00	0	G	NM_021140	Intron	44969495	44969495	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	splice_site	31	35.42	17	SNP	1.000	C
KIAA1211	57482	genome.wustl.edu	37	4	57182104	57182104	+	Silent	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:57182104C>A	ENST00000504228.1	+	6	2541	c.2436C>A	c.(2434-2436)gcC>gcA	p.A812A	KIAA1211_ENST00000264229.6_Silent_p.A812A|KIAA1211_ENST00000541073.1_Silent_p.A805A			Q6ZU35	K1211_HUMAN	KIAA1211	812										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGTGGTGGCCCACACAGAGT	0.577																																						dbGAP											0													85.0	92.0	90.0					4																	57182104		2040	4200	6240	-	-	-	SO:0001819	synonymous_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2436C>A	4.37:g.57182104C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.A812	ENST00000504228.1	37	c.2436	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.577	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	31	0.00	0	C	NM_020722		57182104	57182104	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	silent	10	65.52	19	SNP	0.118	A
KIR3DL2	3812	genome.wustl.edu	37	19	55377364	55377364	+	Splice_Site	SNP	A	A	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:55377364A>T	ENST00000326321.3	+	7	1138	c.1105A>T	c.(1105-1107)Aat>Tat	p.N369Y	KIR3DL2_ENST00000270442.5_Splice_Site_p.N352Y|KIR3DL1_ENST00000402254.2_Splice_Site_p.N369Y	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	369					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAACAAAAAGAGTAAGTCTCA	0.552																																						dbGAP											0													169.0	137.0	148.0					19																	55377364		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1105+1A>T	19.37:g.55377364A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.N369Y	ENST00000326321.3	37	c.1105	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093751	0.36952	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00491	7.1;7.1;7.02	0.792	0.792	0.18625	.	11.175700	0.01251	U	0.008893	T	0.01387	0.0045	M	0.62723	1.935	0.09310	N	1	B;D;D	0.76494	0.205;0.993;0.999	B;P;D	0.72338	0.168;0.851;0.977	T	0.45190	-0.9278	10	0.87932	D	0	.	3.8373	0.08899	1.0:0.0:0.0:0.0	.	352;369;369	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	Y	369;369;352	ENSP00000384528:N369Y;ENSP00000325525:N369Y;ENSP00000270442:N352Y	ENSP00000384528:N369Y	N	+	1	0	KIR3DL1;KIR3DL2	60069176	0.421000	0.25465	0.135000	0.22099	0.156000	0.22039	-0.026000	0.12392	0.591000	0.29711	0.164000	0.16699	AAT	KIR3DL2	-	NULL	ENSG00000240403		0.552	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	298	0.33	1	A		Missense_Mutation	55377364	55377364	+1	no_errors	ENST00000326321	ensembl	human	known	69_37n	missense	154	52.17	168	SNP	0.183	T
KLF17	128209	genome.wustl.edu	37	1	44595381	44595381	+	Silent	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:44595381C>G	ENST00000372299.3	+	2	496	c.438C>G	c.(436-438)ccC>ccG	p.P146P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	146					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TAGCCAGGCCCTTCGGTGGGA	0.557																																						dbGAP											0													41.0	44.0	43.0					1																	44595381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.438C>G	1.37:g.44595381C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VQ7|Q8N805	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P146	ENST00000372299.3	37	c.438	CCDS508.1	1																																																																																			KLF17	-	NULL	ENSG00000171872		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	21	0.00	0	C	NM_173484		44595381	44595381	+1	no_errors	ENST00000372299	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	0.007	G
KSR2	283455	genome.wustl.edu	37	12	117968803	117968803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr12:117968803delG	ENST00000339824.5	-	12	2472	c.1745delC	c.(1744-1746)ccgfs	p.P582fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Del_p.P279fs|KSR2_ENST00000425217.1_Frame_Shift_Del_p.P553fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	582					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCGTCTCCGGCACCGGCAC	0.562																																						dbGAP											0													84.0	98.0	93.0					12																	117968803		1918	4130	6048	-	-	-	SO:0001589	frameshift_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1745delC	12.37:g.117968803delG	ENSP00000339952:p.Pro582fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT2|Q3B828|Q8N775	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P582fs	ENST00000339824.5	37	c.1745		12																																																																																			KSR2	-	NULL	ENSG00000171435		0.562	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	27	0.00	0	G	NM_173598		117968803	117968803	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	frame_shift_del	30	25.00	10	DEL	0.998	-
LMX1B	4010	genome.wustl.edu	37	9	129455805	129455805	+	Silent	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:129455805C>A	ENST00000373474.4	+	5	751	c.744C>A	c.(742-744)gtC>gtA	p.V248V	LMX1B_ENST00000526117.1_Silent_p.V248V|LMX1B_ENST00000355497.5_Silent_p.V248V|LMX1B_ENST00000425646.2_Silent_p.V225V|LMX1B_ENST00000561065.1_Silent_p.V225V			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	248					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGAGCCAGGTCCGAGAGACAC	0.612									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	dbGAP											0													52.0	53.0	53.0					9																	129455805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.744C>A	9.37:g.129455805C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.V248	ENST00000373474.4	37	c.744	CCDS55342.1	9																																																																																			LMX1B	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000136944		0.612	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	45	0.00	0	C			129455805	129455805	+1	no_errors	ENST00000355497	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	1.000	A
LRP8	7804	genome.wustl.edu	37	1	53723024	53723024	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:53723024G>C	ENST00000306052.6	-	15	2423	c.2322C>G	c.(2320-2322)agC>agG	p.S774R	LRP8_ENST00000371454.2_Missense_Mutation_p.S774R|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Missense_Mutation_p.S327R|LRP8_ENST00000347547.2_Missense_Mutation_p.S604R|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	774	Clustered O-linked oligosaccharides.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGTCTCTGTGCTGTGGTTCT	0.592																																						dbGAP											0													316.0	252.0	274.0					1																	53723024		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2322C>G	1.37:g.53723024G>C	ENSP00000303634:p.Ser774Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S774R	ENST00000306052.6	37	c.2322	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910479	0.52439	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000347547	D;D;D;D	0.93659	-2.8;-2.78;-3.26;-2.75	5.94	5.94	0.96194	.	.	.	.	.	D	0.91429	0.7295	N	0.26042	0.785	0.39754	D	0.971937	B;P;P;B;B	0.51537	0.002;0.946;0.919;0.009;0.004	B;P;P;B;B	0.51385	0.005;0.668;0.663;0.007;0.003	D	0.91168	0.4966	9	0.40728	T	0.16	.	14.2793	0.66200	0.0:0.0:0.8517:0.1483	.	327;604;774;774;327	B3KU40;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;LRP8_HUMAN;.	R	774;774;327;604	ENSP00000303634:S774R;ENSP00000360509:S774R;ENSP00000437009:S327R;ENSP00000334522:S604R	ENSP00000303634:S774R	S	-	3	2	LRP8	53495612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.839000	0.39220	2.820000	0.97059	0.650000	0.86243	AGC	LRP8	-	NULL	ENSG00000157193		0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	267	0.00	0	G	NM_004631		53723024	53723024	-1	no_errors	ENST00000306052	ensembl	human	known	69_37n	missense	254	26.80	93	SNP	1.000	C
LY9	4063	genome.wustl.edu	37	1	160769623	160769623	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:160769623A>C	ENST00000263285.6	+	2	235	c.205A>C	c.(205-207)Atc>Ctc	p.I69L	LY9_ENST00000368039.2_Missense_Mutation_p.I69L|LY9_ENST00000341032.4_Missense_Mutation_p.I69L|LY9_ENST00000392203.4_Missense_Mutation_p.I69L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.I69L|LY9_ENST00000368041.2_Missense_Mutation_p.I29L|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	69	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCCCTAAACATCTCAGTAGA	0.488																																						dbGAP											0													85.0	82.0	83.0					1																	160769623		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.205A>C	1.37:g.160769623A>C	ENSP00000263285:p.Ile69Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.I69L	ENST00000263285.6	37	c.205	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252983	0.59212	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.63096	2.08;2.0;2.0;-0.02	4.04	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.536026	0.16499	N	0.211763	T	0.55178	0.1904	L	0.47190	1.495	0.19300	N	0.999979	D;P;P;P;D;D	0.58620	0.983;0.948;0.904;0.85;0.963;0.983	D;P;P;P;D;D	0.73708	0.981;0.521;0.847;0.692;0.93;0.981	T	0.43589	-0.9382	10	0.46703	T	0.11	-20.2807	6.5996	0.22693	0.7868:0.0:0.0:0.2132	.	69;29;69;69;69;69	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	L	69;69;69;69;69;29;29	ENSP00000357020:I69L;ENSP00000342921:I69L;ENSP00000263285:I69L;ENSP00000357018:I69L	ENSP00000263285:I69L	I	+	1	0	LY9	159036247	0.004000	0.15560	0.004000	0.12327	0.198000	0.23893	0.445000	0.21677	0.658000	0.30925	0.460000	0.39030	ATC	LY9	-	smart_Ig_sub	ENSG00000122224		0.488	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	42	0.00	0	A	NM_002348		160769623	160769623	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.004	C
MAP1A	4130	genome.wustl.edu	37	15	43818417	43818417	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr15:43818417G>T	ENST00000300231.5	+	4	5196	c.4746G>T	c.(4744-4746)gaG>gaT	p.E1582D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1582D|MAP1A_ENST00000382031.1_Missense_Mutation_p.E1820D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1582					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGAGCAGGAGAGCCTAGTGC	0.473																																						dbGAP											0													54.0	57.0	56.0					15																	43818417		1893	4118	6011	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4746G>T	15.37:g.43818417G>T	ENSP00000300231:p.Glu1582Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E1582D	ENST00000300231.5	37	c.4746	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	1.242	-0.621041	0.03636	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.64803	-0.12;-0.12;-0.12	3.79	1.87	0.25490	.	.	.	.	.	T	0.44329	0.1288	L	0.29908	0.895	0.09310	N	0.999994	B	0.02656	0.0	B	0.08055	0.003	T	0.24799	-1.0150	9	0.26408	T	0.33	0.0112	5.3827	0.16199	0.1157:0.2058:0.6785:0.0	.	1582	P78559	MAP1A_HUMAN	D	1820;1582;1582	ENSP00000371462:E1820D;ENSP00000382380:E1582D;ENSP00000300231:E1582D	ENSP00000300231:E1582D	E	+	3	2	MAP1A	41605709	0.933000	0.31639	0.161000	0.22692	0.067000	0.16453	0.414000	0.21164	0.386000	0.24997	-0.257000	0.10917	GAG	MAP1A	-	NULL	ENSG00000166963		0.473	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	33	0.00	0	G	NM_002373		43818417	43818417	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.369	T
MAPK10	5602	genome.wustl.edu	37	4	87022223	87022223	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:87022223T>A	ENST00000359221.3	-	8	1238	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	MAPK10_ENST00000395161.2_Missense_Mutation_p.M238L|MAPK10_ENST00000395166.1_Missense_Mutation_p.M200L|MAPK10_ENST00000361569.2_Missense_Mutation_p.M238L|MAPK10_ENST00000395157.3_Missense_Mutation_p.M93L|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395169.3_Missense_Mutation_p.M200L|MAPK10_ENST00000449047.2_Missense_Mutation_p.M93L|MAPK10_ENST00000395160.3_Missense_Mutation_p.M93L			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTGTAGCCCATCCCCAGGATG	0.512																																						dbGAP											0													123.0	107.0	112.0					4																	87022223		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.712A>T	4.37:g.87022223T>A	ENSP00000352157:p.Met238Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.M238L	ENST00000359221.3	37	c.712	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.59|18.59	3.656189|3.656189	0.67586|0.67586	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|T;T;T;T;T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49575|0.49575	0.1565|0.1565	N|N	0.13003|0.13003	0.285|0.285	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.12013	.|0.002;0.005;0.002;0.005;0.001	.|B;B;B;B;B	.|0.20577	.|0.03;0.024;0.011;0.014;0.017	T|T	0.47368|0.47368	-0.9123|-0.9123	5|10	.|0.87932	.|D	.|0	-24.7225|-24.7225	16.5724|16.5724	0.84622|0.84622	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|124;93;200;238;238	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	V|L	150|200;238;93;238;200;93;93;238	.|ENSP00000378598:M200L;ENSP00000352157:M238L;ENSP00000378586:M93L;ENSP00000355297:M238L;ENSP00000378595:M200L;ENSP00000378589:M93L;ENSP00000414469:M93L;ENSP00000378590:M238L	.|ENSP00000352157:M238L	D|M	-|-	2|1	0|0	MAPK10|MAPK10	87241247|87241247	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.967000|0.967000	0.64934|0.64934	8.040000|8.040000	0.89188|0.89188	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	GAT|ATG	MAPK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	ENSG00000109339		0.512	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	54	0.00	0	T			87022223	87022223	-1	no_errors	ENST00000359221	ensembl	human	known	69_37n	missense	21	48.78	20	SNP	1.000	A
MBTPS1	8720	genome.wustl.edu	37	16	84101990	84101990	+	Silent	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr16:84101990T>A	ENST00000343411.3	-	15	2520	c.2025A>T	c.(2023-2025)gtA>gtT	p.V675V	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	675					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGAGGACCTCTACAAAGTAGC	0.483																																						dbGAP											0													121.0	119.0	120.0					16																	84101990		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2025A>T	16.37:g.84101990T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.V675	ENST00000343411.3	37	c.2025	CCDS10941.1	16																																																																																			MBTPS1	-	NULL	ENSG00000140943		0.483	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	44	0.00	0	T	NM_003791		84101990	84101990	-1	no_errors	ENST00000343411	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.091	A
MED12L	116931	genome.wustl.edu	37	3	150840683	150840683	+	Silent	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:150840683T>A	ENST00000474524.1	+	3	356	c.318T>A	c.(316-318)acT>acA	p.T106T	MED12L_ENST00000422248.2_Silent_p.T106T|MED12L_ENST00000309237.4_Silent_p.T106T|MED12L_ENST00000273432.4_Silent_p.T106T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	106						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCTGGTTACTGCTCGATCCC	0.368																																						dbGAP											0													71.0	68.0	69.0					3																	150840683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.318T>A	3.37:g.150840683T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.T106	ENST00000474524.1	37	c.318	CCDS33876.1	3																																																																																			MED12L	-	pfam_Mediator_Med12	ENSG00000144893		0.368	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	100	0.00	0	T	NM_053002		150840683	150840683	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	silent	99	16.67	20	SNP	0.951	A
MFSD9	84804	genome.wustl.edu	37	2	103335116	103335116	+	Silent	SNP	C	C	A	rs149539151	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:103335116C>A	ENST00000258436.5	-	6	1231	c.1188G>T	c.(1186-1188)acG>acT	p.T396T	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	396					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCTGGAGGTCCGTGATGCACG	0.642																																						dbGAP											0													31.0	36.0	34.0					2																	103335116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1188G>T	2.37:g.103335116C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom	p.T396	ENST00000258436.5	37	c.1188	CCDS2063.1	2																																																																																			MFSD9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000135953		0.642	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	25	0.00	0	C	NM_032718		103335116	103335116	-1	no_errors	ENST00000258436	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.010	A
OSBPL1A	114876	genome.wustl.edu	37	18	21901679	21901679	+	Intron	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr18:21901679G>C	ENST00000319481.3	-	8	832				MIR320C2_ENST00000390762.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCAGAATTGGGAAAAGCTGGG	0.393																																						dbGAP											0													56.0	51.0	52.0					18																	21901679		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.626-2906C>G	18.37:g.21901679G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7D3|Q9BZF5|Q9NW87	RNA	SNP	-	NULL	ENST00000319481.3	37	NULL	CCDS11884.1	18																																																																																			MIR320C2	-	-	ENSG00000212051		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR320C2	HGNC	protein_coding	OTTHUMT00000254902.1	67	0.00	0	G	NM_080597		21901679	21901679	+1	no_errors	ENST00000390762	ensembl	human	known	69_37n	rna	71	28.28	28	SNP	0.451	C
MRAP2	112609	genome.wustl.edu	37	6	84798939	84798939	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:84798939C>T	ENST00000257776.4	+	4	492	c.357C>T	c.(355-357)taC>taT	p.Y119Y		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	119					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCACTGCTACATCAATGAGG	0.512																																						dbGAP											0													124.0	116.0	118.0					6																	84798939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.357C>T	6.37:g.84798939C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	NULL	p.Y119	ENST00000257776.4	37	c.357	CCDS5001.1	6																																																																																			MRAP2	-	NULL	ENSG00000135324		0.512	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAP2	HGNC	protein_coding	OTTHUMT00000041367.1	68	0.00	0	C	NM_138409		84798939	84798939	+1	no_errors	ENST00000257776	ensembl	human	known	69_37n	silent	53	11.67	7	SNP	1.000	T
MRPS2	51116	genome.wustl.edu	37	9	138395757	138395757	+	Silent	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:138395757G>T	ENST00000371785.1	+	5	878	c.669G>T	c.(667-669)gtG>gtT	p.V223V	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.V223V			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	223					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TGGGCATCGTGGACACCAACT	0.587																																						dbGAP											0													138.0	132.0	134.0					9																	138395757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.669G>T	9.37:g.138395757G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.V223	ENST00000371785.1	37	c.669	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom	ENSG00000122140		0.587	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	47	0.00	0	G			138395757	138395757	+1	no_errors	ENST00000241600	ensembl	human	known	69_37n	silent	32	15.79	6	SNP	1.000	T
MUC2	4583	genome.wustl.edu	37	11	1097877	1097877	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:1097877G>T	ENST00000441003.2	+	36	6997	c.6970G>T	c.(6970-6972)Gac>Tac	p.D2324Y	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4686					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCACACAAGGACTGCACCCC	0.667																																						dbGAP											0													50.0	64.0	60.0					11																	1097877		2073	4181	6254	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6970G>T	11.37:g.1097877G>T	ENSP00000415183:p.Asp2324Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D2324Y	ENST00000441003.2	37	c.6970		11	.	.	.	.	.	.	.	.	.	.	G	3.972	-0.008110	0.07773	.	.	ENSG00000198788	ENST00000441003	T	0.14516	2.5	3.39	-4.33	0.03677	.	.	.	.	.	T	0.08758	0.0217	L	0.44542	1.39	0.09310	N	1	B	0.34015	0.435	B	0.31337	0.128	T	0.27971	-1.0058	9	0.59425	D	0.04	.	2.2206	0.03971	0.2921:0.3538:0.2469:0.1073	.	2324	E7EUV1	.	Y	2324	ENSP00000415183:D2324Y	ENSP00000415183:D2324Y	D	+	1	0	MUC2	1087877	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.790000	0.01759	-0.658000	0.05366	-0.311000	0.09066	GAC	MUC2	-	smart_Unchr_dom_Cys-rich	ENSG00000198788		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	56	0.00	0	G	NM_002457		1097877	1097877	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.000	T
MYH2	4620	genome.wustl.edu	37	17	10424654	10424654	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:10424654C>T	ENST00000245503.5	-	40	6153	c.5769G>A	c.(5767-5769)gtG>gtA	p.V1923V	MYH1_ENST00000226207.5_5'Flank|MYH2_ENST00000397183.2_Silent_p.V1923V|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Silent_p.V690V|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1923					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGTTTGTTCACCTGGGACT	0.507																																						dbGAP											0													188.0	180.0	183.0					17																	10424654		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5769G>A	17.37:g.10424654C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1923	ENST00000245503.5	37	c.5769	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	106	0.00	0	C	NM_017534		10424654	10424654	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	silent	121	17.69	26	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36229093	36229093	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr13:36229093A>T	ENST00000400445.3	+	53	8608	c.8074A>T	c.(8074-8076)Att>Ttt	p.I2692F	NBEA_ENST00000537702.1_Missense_Mutation_p.I485F|NBEA_ENST00000540320.1_Missense_Mutation_p.I2692F|NBEA_ENST00000310336.4_Missense_Mutation_p.I2692F|NBEA_ENST00000379922.3_Missense_Mutation_p.I270F|NBEA_ENST00000379939.2_Missense_Mutation_p.I2689F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2692					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAATCGCTATATTCTTATCTG	0.363																																						dbGAP											0													90.0	87.0	88.0					13																	36229093		1855	4090	5945	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8074A>T	13.37:g.36229093A>T	ENSP00000383295:p.Ile2692Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.I2692F	ENST00000400445.3	37	c.8074	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996848	0.74818	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.65	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048458	0.85682	D	0.000000	T	0.48892	0.1525	M	0.62723	1.935	0.80722	D	1	B;D;B	0.65815	0.066;0.995;0.374	B;D;B	0.69654	0.138;0.965;0.28	T	0.47636	-0.9102	10	0.72032	D	0.01	.	9.9577	0.41678	0.9158:0.0:0.0842:0.0	.	2692;270;2689	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	F	2692;2692;2689;2692;1319;270;485;270	ENSP00000440951:I2692F;ENSP00000383295:I2692F;ENSP00000369271:I2689F;ENSP00000308534:I2692F;ENSP00000440233:I485F;ENSP00000369254:I270F	ENSP00000308534:I2692F	I	+	1	0	NBEA	35127093	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	6.181000	0.71988	0.961000	0.38030	0.533000	0.62120	ATT	NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000172915		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		73	0.00	0	A	NM_015678		36229093	36229093	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	15	51.61	16	SNP	1.000	T
NCAPH	23397	genome.wustl.edu	37	2	97025913	97025913	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:97025913A>G	ENST00000240423.4	+	11	1433	c.1390A>G	c.(1390-1392)Aag>Gag	p.K464E	NCAPH_ENST00000427946.1_Missense_Mutation_p.K328E|NCAPH_ENST00000455200.1_Missense_Mutation_p.K453E	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	464					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAACAAAAAGAAGAGTACAAA	0.323																																						dbGAP											0													63.0	69.0	67.0					2																	97025913		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1390A>G	2.37:g.97025913A>G	ENSP00000240423:p.Lys464Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.K464E	ENST00000240423.4	37	c.1390	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161214	0.78226	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.73	5.73	0.89815	.	0.049110	0.85682	D	0.000000	T	0.76814	0.4040	M	0.76002	2.32	0.41610	D	0.988904	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.68353	0.912;0.957;0.957	T	0.76732	-0.2851	10	0.35671	T	0.21	-29.8554	13.9662	0.64209	1.0:0.0:0.0:0.0	.	440;453;464	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	E	464;328;453;453	ENSP00000240423:K464E;ENSP00000400774:K328E;ENSP00000405237:K453E;ENSP00000407308:K453E	ENSP00000240423:K464E	K	+	1	0	NCAPH	96389640	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.412000	0.66392	2.187000	0.69744	0.460000	0.39030	AAG	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.323	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	49	0.00	0	A	NM_015341		97025913	97025913	+1	no_errors	ENST00000240423	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	1.000	G
NDUFB5	4711	genome.wustl.edu	37	3	179341750	179341750	+	Silent	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:179341750A>G	ENST00000259037.3	+	6	606	c.492A>G	c.(490-492)ggA>ggG	p.G164G	NDUFB5_ENST00000493866.1_Silent_p.G112G|NDUFB5_ENST00000472629.1_Silent_p.G152G|NDUFB5_ENST00000473500.1_3'UTR	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	164					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			ATGTGAGAGGAGATGGACCCT	0.368																																						dbGAP											0													166.0	157.0	160.0					3																	179341750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.492A>G	3.37:g.179341750A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q561V6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B5_su	p.R50G	ENST00000259037.3	37	c.148	CCDS3234.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.87|13.87	2.364695|2.364695	0.41902|0.41902	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000471112	.|.	.|.	.|.	5.17|5.17	-10.2|-10.2	0.00374|0.00374	.|.	.|.	.|.	.|.	.|.	T|T	0.32102|0.32102	0.0818|0.0818	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42310|0.42310	-0.9459|-0.9459	4|4	.|.	.|.	.|.	-20.7943|-20.7943	1.6464|1.6464	0.02763|0.02763	0.2456:0.3693:0.1613:0.2238|0.2456:0.3693:0.1613:0.2238	.|.	.|.	.|.	.|.	G|G	181|50	.|.	.|.	E|R	+|+	2|1	0|2	NDUFB5|NDUFB5	180824444|180824444	0.124000|0.124000	0.22315|0.22315	0.824000|0.824000	0.32777|0.32777	0.813000|0.813000	0.45954|0.45954	-1.178000|-1.178000	0.03093|0.03093	-1.465000|-1.465000	0.01899|0.01899	0.523000|0.523000	0.50628|0.50628	GAG|AGA	NDUFB5	-	NULL	ENSG00000136521		0.368	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB5	HGNC	protein_coding	OTTHUMT00000348937.2	98	0.00	0	A	NM_002492		179341750	179341750	+1	no_start_codon	ENST00000471112	ensembl	human	putative	69_37n	missense	85	18.27	19	SNP	0.346	G
NOL6	65083	genome.wustl.edu	37	9	33466362	33466362	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:33466362G>A	ENST00000379471.2	-	17	2240	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	NOL6_ENST00000455041.2_Missense_Mutation_p.S666F|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	718					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGCAGTGAGGACCGCTCCCG	0.622											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	87.0	87.0					9																	33466362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2153C>T	9.37:g.33466362G>A	ENSP00000368784:p.Ser718Phe	Somatic	840	WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.S718F	ENST00000379471.2	37	c.2153		9	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223926	0.09863	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.32988	1.43;1.44;1.43	5.0	2.96	0.34315	.	0.676083	0.15465	N	0.260929	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26400	0.148;0.122;0.06;0.148	B;B;B;B	0.30495	0.116;0.043;0.051;0.073	T	0.21999	-1.0229	10	0.56958	D	0.05	.	9.6053	0.39630	0.0:0.1239:0.6396:0.2365	.	666;715;718;718	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	F	718;718;274;718;666	ENSP00000297990:S718F;ENSP00000368784:S718F;ENSP00000395915:S666F	ENSP00000297990:S718F	S	-	2	0	NOL6	33456362	0.207000	0.23482	0.875000	0.34327	0.074000	0.17049	1.685000	0.37659	1.293000	0.44690	0.655000	0.94253	TCC	NOL6	-	pfam_Nrap	ENSG00000165271		0.622	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	45	0.00	0	G	NM_022917		33466362	33466362	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.010	A
NOL6	65083	genome.wustl.edu	37	9	33467129	33467129	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:33467129G>A	ENST00000379471.2	-	14	1944	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	NOL6_ENST00000455041.2_Silent_p.V567V|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	619					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGGTGGGTGACCACCTGGT	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	88.0	86.0					9																	33467129		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1857C>T	9.37:g.33467129G>A		Somatic	840	WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	pfam_Nrap	p.V619	ENST00000379471.2	37	c.1857		9																																																																																			NOL6	-	pfam_Nrap	ENSG00000165271		0.607	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	65	0.00	0	G	NM_022917		33467129	33467129	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	silent	57	12.31	8	SNP	1.000	A
NOL6	65083	genome.wustl.edu	37	9	33467240	33467240	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:33467240G>A	ENST00000379471.2	-	14	1833	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	NOL6_ENST00000455041.2_Silent_p.F530F|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	582					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F582L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGGATCCCCAGAACTGGCGGA	0.612											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	large_intestine(1)											39.0	46.0	44.0					9																	33467240		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1746C>T	9.37:g.33467240G>A		Somatic	840	WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	pfam_Nrap	p.F582	ENST00000379471.2	37	c.1746		9																																																																																			NOL6	-	pfam_Nrap	ENSG00000165271		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	37	0.00	0	G	NM_022917		33467240	33467240	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.997	A
NOL6	65083	genome.wustl.edu	37	9	33469547	33469547	+	Missense_Mutation	SNP	G	G	C	rs377666234		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:33469547G>C	ENST00000379471.2	-	5	764	c.677C>G	c.(676-678)tCc>tGc	p.S226C	NOL6_ENST00000455041.2_Missense_Mutation_p.S166C|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	226					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATTTGTGTAGGAGAAGCAAAC	0.602																																						dbGAP											0													114.0	118.0	116.0					9																	33469547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.677C>G	9.37:g.33469547G>C	ENSP00000368784:p.Ser226Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.S226C	ENST00000379471.2	37	c.677		9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182723	0.78677	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.59	5.59	0.84812	.	0.215542	0.49916	D	0.000121	T	0.67822	0.2934	M	0.64404	1.975	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.74023	0.982;0.957;0.957;0.936;0.975	T	0.67879	-0.5556	10	0.56958	D	0.05	.	19.569	0.95405	0.0:0.0:1.0:0.0	.	166;226;226;226;226	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	C	226;226;226;226;166	ENSP00000313978:S226C;ENSP00000297990:S226C;ENSP00000368784:S226C;ENSP00000395915:S166C	ENSP00000297990:S226C	S	-	2	0	NOL6	33459547	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.730000	0.74780	2.636000	0.89361	0.561000	0.74099	TCC	NOL6	-	pfam_Nrap	ENSG00000165271		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	94	0.00	0	G	NM_022917		33469547	33469547	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	1.000	C
OR13C9	286362	genome.wustl.edu	37	9	107379682	107379682	+	Silent	SNP	A	A	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:107379682A>C	ENST00000259362.1	-	1	803	c.804T>G	c.(802-804)ctT>ctG	p.L268L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	268						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(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CATCTGAATTAAGTGTCTCTT	0.408																																						dbGAP											0													157.0	144.0	149.0					9																	107379682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.804T>G	9.37:g.107379682A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L268	ENST00000259362.1	37	c.804	CCDS35093.1	9																																																																																			OR13C9	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000136839		0.408	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	116	0.85	1	A			107379682	107379682	-1	no_errors	ENST00000259362	ensembl	human	known	69_37n	silent	59	28.05	23	SNP	0.000	C
ORMDL1	94101	genome.wustl.edu	37	2	190647150	190647150	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:190647150G>C	ENST00000325795.3	-	1	958	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	ORMDL1_ENST00000409519.1_Missense_Mutation_p.L58V|PMS1_ENST00000409823.3_5'Flank|PMS1_ENST00000441310.2_5'Flank|ORMDL1_ENST00000392350.3_Missense_Mutation_p.L58V|PMS1_ENST00000409985.1_5'Flank|PMS1_ENST00000374826.4_5'Flank|PMS1_ENST00000432292.3_5'Flank|PMS1_ENST00000418224.3_5'Flank|ORMDL1_ENST00000392349.4_Missense_Mutation_p.L58V|PMS1_ENST00000447232.2_5'Flank			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	58					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			ATTCTTACCAGATTATGTATA	0.358																																						dbGAP											0													51.0	47.0	48.0					2																	190647150		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.172C>G	2.37:g.190647150G>C	ENSP00000326869:p.Leu58Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8W3|D3DPH9	Missense_Mutation	SNP	pfam_ORMDL,pirsf_ORMDL	p.L58V	ENST00000325795.3	37	c.172	CCDS2301.1	2	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147251	0.09134	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349;ENST00000409519;ENST00000442547;ENST00000458355	.	.	.	4.65	2.86	0.33363	.	0.070443	0.64402	D	0.000017	T	0.40719	0.1128	N	0.26042	0.785	0.38459	D	0.94717	B	0.15141	0.012	B	0.24701	0.055	T	0.17258	-1.0375	9	0.17832	T	0.49	-11.3191	9.046	0.36347	0.2366:0.0:0.7634:0.0	.	58	Q9P0S3	ORML1_HUMAN	V	58	.	ENSP00000326869:L58V	L	-	1	2	ORMDL1	190355395	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	3.028000	0.49705	0.593000	0.29745	-0.145000	0.13849	CTG	ORMDL1	-	pfam_ORMDL,pirsf_ORMDL	ENSG00000128699		0.358	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ORMDL1	HGNC	protein_coding	OTTHUMT00000335275.1	34	0.00	0	G	NM_016467		190647150	190647150	-1	no_errors	ENST00000325795	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.999	C
OSBPL3	26031	genome.wustl.edu	37	7	24843951	24843951	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:24843951G>C	ENST00000313367.2	-	22	3001	c.2550C>G	c.(2548-2550)caC>caG	p.H850Q	OSBPL3_ENST00000396431.1_Missense_Mutation_p.H819Q|OSBPL3_ENST00000352860.1_Missense_Mutation_p.H819Q|OSBPL3_ENST00000409069.1_Missense_Mutation_p.H783Q|OSBPL3_ENST00000353930.1_Missense_Mutation_p.H814Q|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396429.1_Missense_Mutation_p.H814Q|OSBPL3_ENST00000431825.2_Missense_Mutation_p.H783Q	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	850					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACCGAGGCTGGTGCTCCACAT	0.463																																						dbGAP											0													169.0	142.0	151.0					7																	24843951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2550C>G	7.37:g.24843951G>C	ENSP00000315410:p.His850Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H850Q	ENST00000313367.2	37	c.2550	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908051	0.72868	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.73	4.74	0.60224	.	0.047648	0.85682	D	0.000000	T	0.54515	0.1863	M	0.92219	3.285	0.58432	D	0.999999	P;P;P;P	0.45126	0.55;0.821;0.518;0.851	P;P;P;P	0.61003	0.599;0.813;0.459;0.882	T	0.59434	-0.7455	10	0.36615	T	0.2	-21.9118	3.7572	0.08589	0.3336:0.0:0.6664:0.0	.	783;819;814;850	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	Q	850;819;814;783;819;814;783	ENSP00000315410:H850Q;ENSP00000315331:H819Q;ENSP00000315277:H814Q;ENSP00000389779:H783Q;ENSP00000379708:H819Q;ENSP00000379706:H814Q;ENSP00000386953:H783Q	ENSP00000315410:H850Q	H	-	3	2	OSBPL3	24810476	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.860000	0.39428	2.700000	0.92200	0.655000	0.94253	CAC	OSBPL3	-	pfam_Oxysterol-bd	ENSG00000070882		0.463	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	132	0.00	0	G			24843951	24843951	-1	no_errors	ENST00000313367	ensembl	human	known	69_37n	missense	85	15.84	16	SNP	1.000	C
PABPC4L	132430	genome.wustl.edu	37	4	135122010	135122010	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:135122010G>C	ENST00000421491.3	-	2	421	c.165C>G	c.(163-165)taC>taG	p.Y55*	PABPC4L_ENST00000529122.2_Nonsense_Mutation_p.Y113*			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						AGAAGTTCACGTAGGCATAGC	0.567																																						dbGAP											0													64.0	61.0	62.0					4																	135122010		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.165C>G	4.37:g.135122010G>C	ENSP00000463233:p.Tyr55*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.Y113*	ENST00000421491.3	37	c.339		4																																																																																			PABPC4L	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000254535		0.567	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	54	0.00	0	G	NM_001114734		135122010	135122010	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	nonsense	28	12.50	4	SNP	0.995	C
PAPPA2	60676	genome.wustl.edu	37	1	176769269	176769269	+	Splice_Site	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:176769269G>C	ENST00000367662.3	+	21	6366		c.e21+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCATGTGAGGTAAGATAGCC	0.498																																						dbGAP											0													111.0	107.0	108.0					1																	176769269		1910	4128	6038	-	-	-	SO:0001630	splice_region_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5202+1G>C	1.37:g.176769269G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	-	e20+1	ENST00000367662.3	37	c.5202+1	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649529	0.47362	.	.	ENSG00000116183	ENST00000367662	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4575	0.87611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	175035892	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	5.798000	0.69095	2.865000	0.98341	0.655000	0.94253	.	PAPPA2	-	-	ENSG00000116183		0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	66	0.00	0	G		Intron	176769269	176769269	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	splice_site	36	40.00	24	SNP	1.000	C
PAXIP1	22976	genome.wustl.edu	37	7	154754122	154754122	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:154754122G>C	ENST00000404141.1	-	10	2190	c.2036C>G	c.(2035-2037)aCa>aGa	p.T679R	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.T679R			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	679	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTTAAGACTGTGTTTAACCA	0.428																																						dbGAP											0													165.0	161.0	162.0					7																	154754122		1888	4095	5983	-	-	-	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2036C>G	7.37:g.154754122G>C	ENSP00000384048:p.Thr679Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T679R	ENST00000404141.1	37	c.2036	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732889	0.30684	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.57273	0.41;0.41	4.91	4.03	0.46877	BRCT (3);	0.222920	0.30168	U	0.010250	T	0.47893	0.1470	L	0.36672	1.1	0.21652	N	0.999605	D;P;P	0.54047	0.964;0.944;0.627	P;P;B	0.50537	0.643;0.629;0.399	T	0.30966	-0.9960	10	0.25751	T	0.34	-5.0945	9.8085	0.40808	0.0771:0.1404:0.7825:0.0	.	632;645;679	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	R	679;679;503;632	ENSP00000384048:T679R;ENSP00000380376:T679R	ENSP00000319149:T632R	T	-	2	0	PAXIP1	154385055	1.000000	0.71417	0.002000	0.10522	0.512000	0.34134	4.990000	0.63876	1.193000	0.43086	0.467000	0.42956	ACA	PAXIP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.428	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	147	0.00	0	G	NM_007349		154754122	154754122	-1	no_errors	ENST00000397192	ensembl	human	known	69_37n	missense	62	36.73	36	SNP	0.247	C
PCDH15	65217	genome.wustl.edu	37	10	55826581	55826581	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr10:55826581G>A	ENST00000320301.6	-	18	2550	c.2156C>T	c.(2155-2157)cCt>cTt	p.P719L	PCDH15_ENST00000437009.1_Missense_Mutation_p.P648L|PCDH15_ENST00000395438.1_Missense_Mutation_p.P719L|PCDH15_ENST00000395445.1_Missense_Mutation_p.P726L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.P697L|PCDH15_ENST00000395432.2_Missense_Mutation_p.P682L|PCDH15_ENST00000361849.3_Missense_Mutation_p.P719L|PCDH15_ENST00000409834.1_Missense_Mutation_p.P330L|PCDH15_ENST00000414778.1_Missense_Mutation_p.P724L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.P719L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P719L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P697L|PCDH15_ENST00000373965.2_Missense_Mutation_p.P726L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	719	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P719H(2)|p.P724H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCAGATAAGGATCAAACAC	0.368										HNSCC(58;0.16)																												dbGAP											4	Substitution - Missense(4)	lung(4)											102.0	94.0	96.0					10																	55826581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2156C>T	10.37:g.55826581G>A	ENSP00000322604:p.Pro719Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P719L	ENST00000320301.6	37	c.2156	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505509	0.44558	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.21;0.14;0.14;0.14;0.14	5.85	5.85	0.93711	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.47002	0.1422	L	0.48362	1.52	0.50313	D	0.999865	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.005;0.005;0.005;0.003;0.002;0.005;0.005;0.0;0.001;0.001;0.0;0.002;0.001;0.002;0.005	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15484	0.013;0.009;0.009;0.002;0.002;0.004;0.013;0.001;0.002;0.002;0.001;0.002;0.002;0.001;0.002	T	0.38972	-0.9636	9	0.25751	T	0.34	.	7.8944	0.29697	0.0797:0.0:0.7588:0.1614	.	697;719;719;724;648;682;719;719;726;726;719;724;719;697;719	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	726;724;719;719;330;726;682;719;697;697;719;719;724;648;719	ENSP00000363076:P726L;ENSP00000410304:P724L;ENSP00000378826:P719L;ENSP00000386693:P330L;ENSP00000378832:P726L;ENSP00000378820:P682L;ENSP00000354950:P719L;ENSP00000378821:P697L;ENSP00000363068:P697L;ENSP00000322604:P719L;ENSP00000378818:P719L;ENSP00000412628:P648L;ENSP00000363066:P719L	ENSP00000322604:P719L	P	-	2	0	PCDH15	55496587	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	2.727000	0.47311	2.773000	0.95371	0.655000	0.94253	CCT	PCDH15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	81	0.00	0	G	NM_033056		55826581	55826581	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	32	49.21	31	SNP	0.984	A
PHKA2	5256	genome.wustl.edu	37	X	18961827	18961827	+	Splice_Site	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:18961827C>T	ENST00000379942.4	-	7	1383		c.e7+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAGGCTATTACCTGGCAGTGC	0.532																																						dbGAP											0													186.0	157.0	167.0					X																	18961827		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.717+1G>A	X.37:g.18961827C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	-	e7+1	ENST00000379942.4	37	c.717+1	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943287	0.92593	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA2	18871748	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.773000	0.85462	2.402000	0.81655	0.600000	0.82982	.	PHKA2	-	-	ENSG00000044446		0.532	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	56	0.00	0	C	NM_000292	Intron	18961827	18961827	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	splice_site	13	40.91	9	SNP	1.000	T
PHF8	23133	genome.wustl.edu	37	X	54020123	54020123	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:54020123C>T	ENST00000357988.5	-	13	2003	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	PHF8_ENST00000322659.8_Missense_Mutation_p.A513T|PHF8_ENST00000338946.6_Intron|PHF8_ENST00000338154.6_Missense_Mutation_p.A513T	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	549					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGCCCCAAGGCTGAACTCTCC	0.522																																						dbGAP											0													107.0	85.0	93.0					X																	54020123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1645G>A	X.37:g.54020123C>T	ENSP00000350676:p.Ala549Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.A549T	ENST00000357988.5	37	c.1645	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.877|8.877	0.950787|0.950787	0.18431|0.18431	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000322659|ENST00000443302	T;T;T|T	0.22743|0.44083	2.54;2.28;1.94|0.93	5.55|5.55	1.7|1.7	0.24286|0.24286	.|.	0.382268|.	0.30383|.	N|.	0.009751|.	T|T	0.26810|0.26810	0.0656|0.0656	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.009;0.001;0.005|.	B;B;B|.	0.08055|.	0.003;0.002;0.001|.	T|T	0.03795|0.03795	-1.1003|-1.1003	10|7	0.12103|0.16420	T|T	0.63|0.52	-0.0337|-0.0337	5.4721|5.4721	0.16676|0.16676	0.0:0.4832:0.3314:0.1853|0.0:0.4832:0.3314:0.1853	.|.	35;513;549|.	B3KMV4;Q9UPP1-2;Q9UPP1|.	.;.;PHF8_HUMAN|.	T|N	549;513;513|276	ENSP00000350676:A549T;ENSP00000338868:A513T;ENSP00000319473:A513T|ENSP00000397129:S276N	ENSP00000319473:A513T|ENSP00000397129:S276N	A|S	-|-	1|2	0|0	PHF8|PHF8	54036848|54036848	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.914000|0.914000	0.28624|0.28624	0.275000|0.275000	0.22094|0.22094	0.594000|0.594000	0.82650|0.82650	GCC|AGC	PHF8	-	NULL	ENSG00000172943		0.522	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	82	0.00	0	C	NM_015107		54020123	54020123	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.998	T
PKDREJ	10343	genome.wustl.edu	37	22	46653339	46653339	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr22:46653339C>A	ENST00000253255.5	-	1	5880	c.5881G>T	c.(5881-5883)Gct>Tct	p.A1961S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1961					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGCTGAAGCTTTTCTGTCA	0.388																																						dbGAP											0													53.0	57.0	56.0					22																	46653339		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5881G>T	22.37:g.46653339C>A	ENSP00000253255:p.Ala1961Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.A1961S	ENST00000253255.5	37	c.5881	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	5.385	0.256238	0.10185	.	.	ENSG00000130943	ENST00000253255	T	0.70399	-0.48	5.55	-0.888	0.10583	Polycystin cation channel, PKD1/PKD2 (1);	1.209480	0.06016	N	0.650410	T	0.41282	0.1152	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15954	-1.0419	10	0.19590	T	0.45	-2.8551	5.831	0.18581	0.5107:0.0736:0.0:0.4157	.	1961	Q9NTG1	PKDRE_HUMAN	S	1961	ENSP00000253255:A1961S	ENSP00000253255:A1961S	A	-	1	0	PKDREJ	45032003	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	0.466000	0.22019	-0.579000	0.05952	-0.505000	0.04504	GCT	PKDREJ	-	pfam_PKD1_2_channel	ENSG00000130943		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	48	0.00	0	C	NM_006071		46653339	46653339	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	0.000	A
PLAUR	5329	genome.wustl.edu	37	19	44169580	44169580	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:44169580G>C	ENST00000340093.3	-	3	427	c.198C>G	c.(196-198)agC>agG	p.S66R	PLAUR_ENST00000601723.1_Missense_Mutation_p.S66R|PLAUR_ENST00000339082.3_Missense_Mutation_p.S66R|PLAUR_ENST00000221264.4_Missense_Mutation_p.S66R|AC006953.1_ENST00000580312.1_RNA	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	66	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGTGGGTACAGCTTTTCTCCA	0.547																																						dbGAP											0													223.0	172.0	189.0					19																	44169580		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.198C>G	19.37:g.44169580G>C	ENSP00000339328:p.Ser66Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S66R	ENST00000340093.3	37	c.198	CCDS12628.1	19	.	.	.	.	.	.	.	.	.	.	g	10.29	1.309924	0.23821	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.69435	-0.4;-0.4;-0.4	3.84	1.5	0.22942	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	1.665970	0.03979	N	0.292999	T	0.52741	0.1753	N	0.22421	0.69	0.19575	N	0.999967	P;P;P;B	0.43633	0.531;0.813;0.813;0.411	B;B;B;B	0.40825	0.093;0.341;0.341;0.1	T	0.49952	-0.8884	10	0.51188	T	0.08	-3.3005	4.5102	0.11908	0.1221:0.0:0.6271:0.2508	.	66;66;66;66	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	R	66	ENSP00000342049:S66R;ENSP00000339328:S66R;ENSP00000221264:S66R	ENSP00000221264:S66R	S	-	3	2	PLAUR	48861420	0.977000	0.34250	0.991000	0.47740	0.530000	0.34684	0.542000	0.23222	0.773000	0.33404	0.282000	0.19409	AGC	PLAUR	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000011422		0.547	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAUR	HGNC	protein_coding	OTTHUMT00000463571.1	112	0.00	0	G	NM_002659		44169580	44169580	-1	no_errors	ENST00000340093	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	0.985	C
PLCD4	84812	genome.wustl.edu	37	2	219496970	219496970	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:219496970G>A	ENST00000450993.2	+	10	1723	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PLCD4_ENST00000417849.1_Missense_Mutation_p.E462K|PLCD4_ENST00000432688.1_Missense_Mutation_p.E462K|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	462	Glu-rich.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTGGCGCTGGAGTCCCAGTT	0.483																																						dbGAP											0													52.0	57.0	55.0					2																	219496970		1971	4168	6139	-	-	-	SO:0001583	missense	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1384G>A	2.37:g.219496970G>A	ENSP00000388631:p.Glu462Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS8	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,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E462K	ENST00000450993.2	37	c.1384	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686116	0.29962	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.54071	0.59;0.59;2.35	5.24	1.19	0.21007	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	5.318830	0.00639	N	0.000518	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.12041	-1.0563	10	0.21014	T	0.42	.	2.9782	0.05945	0.1445:0.2654:0.453:0.1371	.	462	Q9BRC7	PLCD4_HUMAN	K	462	ENSP00000388631:E462K;ENSP00000396942:E462K;ENSP00000396185:E462K	ENSP00000251959:E462K	E	+	1	0	PLCD4	219205214	0.012000	0.17670	0.001000	0.08648	0.026000	0.11368	1.808000	0.38912	0.030000	0.15379	0.655000	0.94253	GAG	PLCD4	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000115556		0.483	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	48	0.00	0	G			219496970	219496970	+1	no_errors	ENST00000417849	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.002	A
PPP1R13B	23368	genome.wustl.edu	37	14	104208267	104208267	+	Missense_Mutation	SNP	C	C	A	rs187707451	byFrequency	TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr14:104208267C>A	ENST00000202556.9	-	11	1964	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	561	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGCCTTGACCCTTTATCAGC	0.552																																						dbGAP											0													140.0	148.0	145.0					14																	104208267		1980	4159	6139	-	-	-	SO:0001583	missense	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1682G>T	14.37:g.104208267C>A	ENSP00000202556:p.Gly561Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.G561V	ENST00000202556.9	37	c.1682	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.251155	0.80135	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.50001	0.76	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	L	0.54323	1.7	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	T	0.51639	-0.8680	10	0.35671	T	0.21	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	561	Q96KQ4	ASPP1_HUMAN	V	561;428	ENSP00000202556:G561V	ENSP00000202556:G561V	G	-	2	0	PPP1R13B	103278020	1.000000	0.71417	0.869000	0.34112	0.743000	0.42351	7.294000	0.78760	2.797000	0.96272	0.561000	0.74099	GGG	PPP1R13B	-	NULL	ENSG00000088808		0.552	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	106	0.00	0	C	NM_015316		104208267	104208267	-1	no_errors	ENST00000202556	ensembl	human	known	69_37n	missense	67	29.47	28	SNP	1.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12855745	12855745	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:12855745C>G	ENST00000332296.7	+	4	1128	c.1025C>G	c.(1024-1026)gCt>gGt	p.A342G	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.A97G	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCGGAGCTCTGCTGGAG	0.547																																						dbGAP											0													173.0	178.0	176.0					1																	12855745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1025C>G	1.37:g.12855745C>G	ENSP00000332134:p.Ala342Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Missense_Mutation	SNP	NULL	p.A342G	ENST00000332296.7	37	c.1025	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	9.712	1.157317	0.21454	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.08370	3.1;3.1	1.56	-0.997	0.10215	.	1.206780	0.05942	N	0.637215	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.45469	-0.9259	10	0.12766	T	0.61	.	5.1167	0.14838	0.0:0.2014:0.0:0.7986	.	342	O95521	PRAM1_HUMAN	G	342;97	ENSP00000332134:A342G;ENSP00000383616:A97G	ENSP00000332134:A342G	A	+	2	0	PRAMEF1	12778332	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.902000	0.04088	-0.286000	0.09076	-0.974000	0.02594	GCT	PRAMEF1	-	NULL	ENSG00000116721		0.547	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	167	0.00	0	C	NM_023013		12855745	12855745	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	missense	65	36.27	37	SNP	0.001	G
HELZ2	85441	genome.wustl.edu	37	20	62195294	62195294	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr20:62195294C>T	ENST00000467148.1	-	8	4950	c.4881G>A	c.(4879-4881)atG>atA	p.M1627I	HELZ2_ENST00000427522.2_Missense_Mutation_p.M1058I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1627					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGAATGGGTGCATGTCGTCCG	0.697																																						dbGAP											0													46.0	32.0	37.0					20																	62195294		2184	4297	6481	-	-	-	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4881G>A	20.37:g.62195294C>T	ENSP00000417401:p.Met1627Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.M1627I	ENST00000467148.1	37	c.4881	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.617178	0.00828	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.34859	1.34;1.34	4.98	2.78	0.32641	Ribonuclease II/R (2);	0.521439	0.21833	N	0.068441	T	0.13884	0.0336	N	0.05012	-0.13	0.34945	D	0.750652	B;B	0.16166	0.016;0.013	B;B	0.10450	0.005;0.003	T	0.21586	-1.0241	10	0.02654	T	1	-21.8423	9.6206	0.39719	0.116:0.6235:0.2605:0.0	.	1627;1058	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	I	1058;1627	ENSP00000393257:M1058I;ENSP00000417401:M1627I	ENSP00000393257:M1058I	M	-	3	0	RP4-697K14.7	61665738	0.991000	0.36638	0.986000	0.45419	0.024000	0.10985	0.204000	0.17335	2.320000	0.78422	0.491000	0.48974	ATG	RP4-697K14.7	-	pfam_RNase_II/R,smart_RNase_II/R	ENSG00000130589		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	35	0.00	0	C	NM_001037335		62195294	62195294	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
PRKACG	5568	genome.wustl.edu	37	9	71628311	71628311	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:71628311G>T	ENST00000377276.2	-	1	728	c.698C>A	c.(697-699)gCc>gAc	p.A233D		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAAGCCCACGGCCATCTCATA	0.607																																					Esophageal Squamous(110;2236 2623 32146)	dbGAP											0													69.0	67.0	68.0					9																	71628311		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.698C>A	9.37:g.71628311G>T	ENSP00000366488:p.Ala233Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A233D	ENST00000377276.2	37	c.698	CCDS6625.1	9	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770489	0.31320	.	.	ENSG00000165059	ENST00000377276	T	0.68025	-0.3	1.16	0.053	0.14305	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.493300	0.05797	U	0.611494	T	0.71771	0.3379	M	0.66297	2.02	0.22989	N	0.99846	B	0.12013	0.005	B	0.41440	0.357	T	0.65664	-0.6113	10	0.72032	D	0.01	.	5.2901	0.15721	0.2275:0.0:0.7725:0.0	.	233	P22612	KAPCG_HUMAN	D	233	ENSP00000366488:A233D	ENSP00000366488:A233D	A	-	2	0	PRKACG	70818131	0.994000	0.37717	0.000000	0.03702	0.000000	0.00434	2.283000	0.43470	-0.258000	0.09446	-0.253000	0.11424	GCC	PRKACG	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000165059		0.607	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	40	0.00	0	G			71628311	71628311	-1	no_errors	ENST00000377276	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	0.954	T
PRKCQ	5588	genome.wustl.edu	37	10	6504320	6504320	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr10:6504320C>T	ENST00000263125.5	-	14	1552	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A485T|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A360T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATTTCAGCAGCATAAAACCTG	0.408																																					Ovarian(50;572 1126 10530 25349 30594)	dbGAP											0													108.0	104.0	105.0					10																	6504320		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1453G>A	10.37:g.6504320C>T	ENSP00000263125:p.Ala485Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A485T	ENST00000263125.5	37	c.1453	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.543975|5.543975	0.96488|0.96488	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.67698|.	-0.28;-0.28;-0.28|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.047862|.	0.85682|.	D|.	0.000000|.	T|T	0.69486|0.69486	0.3116|0.3116	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.986;0.996;0.998;0.998|.	P;D;D;D|.	0.66196|.	0.762;0.942;0.924;0.918|.	T|T	0.65030|0.65030	-0.6267|-0.6267	10|5	0.72032|.	D|.	0.01|.	.|.	19.4241|19.4241	0.94734|0.94734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	360;257;485;485|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	T|I	485;485;360|257	ENSP00000263125:A485T;ENSP00000380361:A485T;ENSP00000441752:A360T|.	ENSP00000263125:A485T|.	A|M	-|-	1|3	0|0	PRKCQ|PRKCQ	6544326|6544326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.513000|7.513000	0.81739|0.81739	2.577000|2.577000	0.86979|0.86979	0.563000|0.563000	0.77884|0.77884	GCT|ATG	PRKCQ	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000065675		0.408	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	57	0.00	0	C	NM_006257		6504320	6504320	-1	no_errors	ENST00000263125	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79324308	79324308	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:79324308G>T	ENST00000376718.3	-	8	3005	c.2882C>A	c.(2881-2883)tCc>tAc	p.S961Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S602Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	961					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTAAGGGGGAAGGCACCGA	0.428																																						dbGAP											0													171.0	157.0	162.0					9																	79324308		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2882C>A	9.37:g.79324308G>T	ENSP00000365908:p.Ser961Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S602Y	ENST00000376718.3	37	c.1805	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.275259|3.275259	0.59649|0.59649	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.66099	.|-0.17;-0.19	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.114163	.|0.40385	.|N	.|0.001103	T|T	0.73536|0.73536	0.3599|0.3599	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.74414|0.74414	-0.3673|-0.3673	5|10	.|0.87932	.|D	.|0	-11.4357|-11.4357	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|961	.|Q8WUY3	.|PRUN2_HUMAN	L|Y	282|961;602;960	.|ENSP00000365908:S961Y;ENSP00000397425:S602Y	.|ENSP00000365908:S961Y	F|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78514128|78514128	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.768000|0.768000	0.43524|0.43524	5.081000|5.081000	0.64444|0.64444	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	TTC|TCC	PRUNE2	-	NULL	ENSG00000106772		0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	91	0.00	0	G	NM_138818		79324308	79324308	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79325223	79325223	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:79325223C>A	ENST00000376718.3	-	8	2090	c.1967G>T	c.(1966-1968)tGg>tTg	p.W656L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.W297L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	656					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCACCCCACCAGCTGCTGCA	0.488																																						dbGAP											0													92.0	84.0	86.0					9																	79325223		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1967G>T	9.37:g.79325223C>A	ENSP00000365908:p.Trp656Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.W297L	ENST00000376718.3	37	c.890	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950403	0.73787	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.77877	-0.97;-1.13	5.86	5.86	0.93980	.	0.000000	0.48286	D	0.000190	D	0.88373	0.6419	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88464	0.3057	10	0.87932	D	0	-6.308	20.1802	0.98196	0.0:1.0:0.0:0.0	.	656	Q8WUY3	PRUN2_HUMAN	L	656;297;655	ENSP00000365908:W656L;ENSP00000397425:W297L	ENSP00000365908:W656L	W	-	2	0	PRUNE2	78515043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.648000	0.54410	2.777000	0.95525	0.655000	0.94253	TGG	PRUNE2	-	NULL	ENSG00000106772		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	70	0.00	0	C	NM_138818		79325223	79325223	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	56	44.55	45	SNP	1.000	A
PSG1	5669	genome.wustl.edu	37	19	43373177	43373177	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:43373177G>T	ENST00000436291.2	-	4	835	c.719C>A	c.(718-720)cCc>cAc	p.P240H	PSG1_ENST00000403380.3_Missense_Mutation_p.P147H|PSG1_ENST00000595356.1_Missense_Mutation_p.P240H|PSG1_ENST00000312439.6_Missense_Mutation_p.P240H|PSG1_ENST00000244296.2_Missense_Mutation_p.P240H|PSG1_ENST00000595124.1_Missense_Mutation_p.P147H	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	240	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAGGGCTTGGGCAGCTTCGC	0.468																																						dbGAP											0													168.0	185.0	179.0					19																	43373177		1510	2706	4216	-	-	-	SO:0001583	missense	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.719C>A	19.37:g.43373177G>T	ENSP00000413041:p.Pro240His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P240H	ENST00000436291.2	37	c.719	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	10.23	1.292577	0.23564	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.43688	0.94;5.59;0.95;0.99	1.47	1.47	0.22746	Immunoglobulin-like (1);	.	.	.	.	T	0.62171	0.2406	M	0.85630	2.765	0.09310	N	1	B;D;D;D;D;D;D	0.76494	0.12;0.999;0.99;0.998;0.994;0.989;0.998	B;D;P;D;D;P;D	0.74348	0.096;0.983;0.895;0.963;0.951;0.897;0.97	T	0.47018	-0.9149	9	0.66056	D	0.02	.	6.2873	0.21041	0.0:0.0:1.0:0.0	.	240;147;240;147;240;112;240	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;B4DTG5;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	H	240;147;240;240	ENSP00000413041:P240H;ENSP00000385386:P147H;ENSP00000308970:P240H;ENSP00000244296:P240H	ENSP00000244296:P240H	P	-	2	0	PSG1	48065017	0.001000	0.12720	0.021000	0.16686	0.092000	0.18411	0.171000	0.16685	0.780000	0.33566	0.184000	0.17185	CCC	PSG1	-	pfscan_Ig-like	ENSG00000231924		0.468	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	188	0.00	0	G			43373177	43373177	-1	no_errors	ENST00000312439	ensembl	human	known	69_37n	missense	195	19.09	46	SNP	0.016	T
PTEN	5728	genome.wustl.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr10:89692883C>G	ENST00000371953.3	+	5	1724	c.367C>G	c.(367-369)Cac>Gac	p.H123D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM020755	PTEN	M							140.0	129.0	132.0					10																	89692883		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>G	10.37:g.89692883C>G	ENSP00000361021:p.His123Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H123D	ENST00000371953.3	37	c.367	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767346	0.90020	.	.	ENSG00000171862	ENST00000371953	D	0.99905	-7.71	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99947	0.9977	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95905	0.8918	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	D	123	ENSP00000361021:H123D	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	79	0.00	0	C	NM_000314		89692883	89692883	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	54	21.74	15	SNP	1.000	G
PTPN4	5775	genome.wustl.edu	37	2	120640129	120640129	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:120640129G>A	ENST00000263708.2	+	8	1288	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CTACCTCTCAGATTATTCTTT	0.284																																						dbGAP											0													31.0	32.0	32.0					2																	120640129		2195	4292	6487	-	-	-	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.517G>A	2.37:g.120640129G>A	ENSP00000263708:p.Asp173Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.D173N	ENST00000263708.2	37	c.517	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323328	0.81580	.	.	ENSG00000088179	ENST00000263708	T	0.78816	-1.21	5.73	5.73	0.89815	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.050876	0.85682	D	0.000000	T	0.69178	0.3082	N	0.13043	0.29	0.80722	D	1	B	0.33940	0.433	B	0.38020	0.263	T	0.68526	-0.5385	10	0.41790	T	0.15	.	19.8954	0.96955	0.0:0.0:1.0:0.0	.	173	P29074	PTN4_HUMAN	N	173	ENSP00000263708:D173N	ENSP00000263708:D173N	D	+	1	0	PTPN4	120356599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.201000	0.77847	2.708000	0.92522	0.591000	0.81541	GAT	PTPN4	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain	ENSG00000088179		0.284	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	36	0.00	0	G			120640129	120640129	+1	no_errors	ENST00000263708	ensembl	human	known	69_37n	missense	21	50.00	21	SNP	1.000	A
QSER1	79832	genome.wustl.edu	37	11	32955888	32955888	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373																																						dbGAP											0													77.0	71.0	73.0					11																	32955888		1875	4119	5994	-	-	-	SO:0001819	synonymous_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2697G>A	11.37:g.32955888G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Silent	SNP	NULL	p.V899	ENST00000399302.2	37	c.2697	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.373	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	35	0.00	0	G	NM_024774		32955888	32955888	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	silent	15	48.28	14	SNP	1.000	A
RAG1	5896	genome.wustl.edu	37	11	36596585	36596585	+	Silent	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr11:36596585C>T	ENST00000299440.5	+	2	1843	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	577					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAGAAGACATCTTGGAAGGCA	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													116.0	97.0	104.0					11																	36596585		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1731C>T	11.37:g.36596585C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PPC4|Q8IY72|Q8NER2	Silent	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.I577	ENST00000299440.5	37	c.1731	CCDS7902.1	11																																																																																			RAG1	-	NULL	ENSG00000166349		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	68	0.00	0	C	NM_000448		36596585	36596585	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	silent	16	58.97	23	SNP	0.983	T
RAPGEF2	9693	genome.wustl.edu	37	4	160252682	160252682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr4:160252682G>T	ENST00000264431.4	+	8	1503	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	362	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAACAATCTGGAAAGAGAGGT	0.333																																						dbGAP											0													61.0	57.0	58.0					4																	160252682		1813	4078	5891	-	-	-	SO:0001587	stop_gained	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1084G>T	4.37:g.160252682G>T	ENSP00000264431:p.Glu362*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E362*	ENST00000264431.4	37	c.1084	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.633041	0.99224	.	.	ENSG00000109756	ENST00000264431	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8712	0.92315	0.0:0.0:1.0:0.0	.	.	.	.	X	362	.	ENSP00000264431:E362X	E	+	1	0	RAPGEF2	160472132	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.813000	0.99286	2.535000	0.85469	0.467000	0.42956	GAA	RAPGEF2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000109756		0.333	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	52	0.00	0	G	NM_014247		160252682	160252682	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	nonsense	42	19.23	10	SNP	1.000	T
RECQL5	9400	genome.wustl.edu	37	17	73625808	73625808	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:73625808G>A	ENST00000317905.5	-	15	2086	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	RECQL5_ENST00000423245.2_Missense_Mutation_p.P616S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	643					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGGAGGCTGGTGGAATGTCA	0.612								Other identified genes with known or suspected DNA repair function																														dbGAP											0													78.0	88.0	85.0					17																	73625808		2089	4229	6318	-	-	-	SO:0001583	missense	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1927C>T	17.37:g.73625808G>A	ENSP00000317636:p.Pro643Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.P643S	ENST00000317905.5	37	c.1927	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203190	0.22121	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.60040	0.22	4.98	2.93	0.34026	RecQ helicase-like 5 (2);	0.299356	0.34178	N	0.004198	T	0.46092	0.1375	L	0.46157	1.445	0.20926	N	0.999823	P;P	0.36086	0.536;0.536	B;B	0.35607	0.145;0.206	T	0.25293	-1.0136	10	0.25106	T	0.35	-2.9338	9.2799	0.37722	0.0:0.1578:0.6784:0.1638	.	643;616	O94762;Q6P4G0	RECQ5_HUMAN;.	S	238;643;643	ENSP00000317636:P643S	ENSP00000317636:P643S	P	-	1	0	RECQL5	71137403	0.994000	0.37717	0.008000	0.14137	0.726000	0.41606	3.394000	0.52551	0.644000	0.30656	0.655000	0.94253	CCA	RECQL5	-	pfam_RecQ_helicase-like_5	ENSG00000108469		0.612	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	46	0.00	0	G	NM_004259		73625808	73625808	-1	no_errors	ENST00000317905	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.021	A
RELN	5649	genome.wustl.edu	37	7	103197424	103197424	+	Splice_Site	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:103197424C>A	ENST00000428762.1	-	38	5956	c.5797G>T	c.(5797-5799)Ggt>Tgt	p.G1933C	RELN_ENST00000343529.5_Splice_Site_p.G1933C|RELN_ENST00000424685.2_Splice_Site_p.G1933C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1933					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCATTTTTACCGTTATTATAA	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													219.0	217.0	217.0					7																	103197424		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5797+1G>T	7.37:g.103197424C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G1933C	ENST00000428762.1	37	c.5797	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304129	0.81136	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50001	0.76;0.76;0.76	5.74	5.74	0.90152	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71609	-0.4541	9	.	.	.	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	1933;1933	P78509-2;P78509	.;RELN_HUMAN	C	1933	ENSP00000392423:G1933C;ENSP00000345694:G1933C;ENSP00000388446:G1933C	.	G	-	1	0	RELN	102984660	1.000000	0.71417	0.986000	0.45419	0.537000	0.34900	7.399000	0.79935	2.873000	0.98535	0.561000	0.74099	GGT	RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	126	0.00	0	C	NM_005045	Missense_Mutation	103197424	103197424	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	123	28.07	48	SNP	1.000	A
RGS1	5996	genome.wustl.edu	37	1	192545958	192545958	+	Silent	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:192545958C>G	ENST00000367459.3	+	3	339	c.273C>G	c.(271-273)gcC>gcG	p.A91A	RGS1_ENST00000469578.2_Silent_p.A91A	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	91	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AACTTCTTGCCAACCAAAGTA	0.333																																						dbGAP											0													122.0	124.0	123.0					1																	192545958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.273C>G	1.37:g.192545958C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM9|B4DZY0|Q07918|Q9H1W2	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.A91	ENST00000367459.3	37	c.273	CCDS1375.2	1																																																																																			RGS1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000090104		0.333	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS1	HGNC	protein_coding	OTTHUMT00000086391.1	87	0.00	0	C	NM_002922		192545958	192545958	+1	no_errors	ENST00000367459	ensembl	human	known	69_37n	silent	92	18.58	21	SNP	0.322	G
RUNX1	861	genome.wustl.edu	37	21	36164864	36164864	+	Silent	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr21:36164864G>A	ENST00000344691.4	-	6	2507	c.930C>T	c.(928-930)ccC>ccT	p.P310P	RUNX1_ENST00000325074.5_Silent_p.P325P|RUNX1_ENST00000399240.1_Silent_p.P246P|RUNX1_ENST00000437180.1_Silent_p.P337P|RUNX1_ENST00000300305.3_Silent_p.P337P	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	310	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AGGGCAGCGCGGGGAACTGGC	0.687			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													17.0	14.0	15.0					21																	36164864		2192	4276	6468	-	-	-	SO:0001819	synonymous_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.930C>T	21.37:g.36164864G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.P337	ENST00000344691.4	37	c.1011	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.687	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	21	0.00	0	G			36164864	36164864	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	silent	3	70.00	7	SNP	0.060	A
RUNX2	860	genome.wustl.edu	37	6	45514594	45514594	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:45514594C>G	ENST00000371438.1	+	8	1476	c.1118C>G	c.(1117-1119)cCc>cGc	p.P373R	RUNX2_ENST00000465038.2_Missense_Mutation_p.P373R|RUNX2_ENST00000371436.6_Missense_Mutation_p.P351R|RUNX2_ENST00000541979.1_Missense_Mutation_p.P419R|RUNX2_ENST00000359524.5_Missense_Mutation_p.P359R|RUNX2_ENST00000371432.3_Missense_Mutation_p.P337R|RUNX2_ENST00000352853.5_Missense_Mutation_p.P441R|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	373	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTTTCAGACCCCAGGCAGTTC	0.438																																						dbGAP											0													93.0	93.0	93.0					6																	45514594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1118C>G	6.37:g.45514594C>G	ENSP00000360493:p.Pro373Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O14614|O14615|O95181	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.P441R	ENST00000371438.1	37	c.1322	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140369	0.56936	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.77	5.77	0.91146	.	0.055960	0.64402	D	0.000001	T	0.80369	0.4610	L	0.58669	1.825	0.52501	D	0.999955	P;D;D	0.89917	0.951;1.0;0.957	P;D;P	0.79784	0.743;0.993;0.828	T	0.78763	-0.2077	10	0.54805	T	0.06	-10.1884	20.3627	0.98863	0.0:1.0:0.0:0.0	.	419;373;359	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	R	373;441;419;373;351;359;337	ENSP00000420707:P373R;ENSP00000319087:P441R;ENSP00000446290:P419R;ENSP00000360493:P373R;ENSP00000360491:P351R;ENSP00000352514:P359R;ENSP00000360486:P337R	ENSP00000319087:P441R	P	+	2	0	RUNX2	45622572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.944000	0.70219	2.885000	0.99019	0.655000	0.94253	CCC	RUNX2	-	NULL	ENSG00000124813		0.438	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	73	0.00	0	C	NM_004348		45514594	45514594	+1	no_errors	ENST00000352853	ensembl	human	known	69_37n	missense	57	41.24	40	SNP	1.000	G
SAFB	6294	genome.wustl.edu	37	19	5654079	5654079	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:5654079A>G	ENST00000292123.5	+	12	1641	c.1534A>G	c.(1534-1536)Aac>Gac	p.N512D	SAFB_ENST00000454510.1_Missense_Mutation_p.N443D|SAFB_ENST00000433404.1_Missense_Mutation_p.N342D|SAFB_ENST00000592224.1_Missense_Mutation_p.N512D|SAFB_ENST00000588852.1_Missense_Mutation_p.N512D|SAFB_ENST00000538656.1_Missense_Mutation_p.N355D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	512					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAGATCTACAAACCTTAAGAG	0.483																																					Colon(88;338 1345 6184 8214 20897)	dbGAP											0													77.0	74.0	75.0					19																	5654079		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1534A>G	19.37:g.5654079A>G	ENSP00000292123:p.Asn512Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.N512D	ENST00000292123.5	37	c.1534	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	A	3.806	-0.040637	0.07497	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.09817	2.94;3.11;2.95;2.94	5.34	4.29	0.51040	.	0.485570	0.19035	N	0.124429	T	0.09992	0.0245	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B	0.23442	0.016;0.033;0.027;0.085;0.085;0.085;0.085	B;B;B;B;B;B;B	0.24394	0.023;0.053;0.031;0.029;0.029;0.029;0.029	T	0.32402	-0.9908	10	0.13853	T	0.58	-24.9417	11.5507	0.50719	0.6922:0.3078:0.0:0.0	.	311;355;443;512;512;512;512	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	D	443;407;342;512;355	ENSP00000415895:N443D;ENSP00000404545:N342D;ENSP00000292123:N512D;ENSP00000438880:N355D	ENSP00000292123:N512D	N	+	1	0	SAFB	5605079	0.000000	0.05858	0.107000	0.21349	0.018000	0.09664	0.658000	0.24979	0.921000	0.36994	0.460000	0.39030	AAC	SAFB	-	NULL	ENSG00000160633		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	52	0.00	0	A			5654079	5654079	+1	no_errors	ENST00000588852	ensembl	human	known	69_37n	missense	17	67.92	36	SNP	0.014	G
SCN2A	6326	genome.wustl.edu	37	2	166201118	166201118	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:166201118G>C	ENST00000375437.2	+	16	2906	c.2616G>C	c.(2614-2616)aaG>aaC	p.K872N	SCN2A_ENST00000283256.6_Missense_Mutation_p.K872N|SCN2A_ENST00000357398.3_Missense_Mutation_p.K872N|SCN2A_ENST00000375427.2_Missense_Mutation_p.K872N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	872					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTAATTAAGATCATTGGCA	0.413																																						dbGAP											0													74.0	75.0	75.0					2																	166201118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2616G>C	2.37:g.166201118G>C	ENSP00000364586:p.Lys872Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K872N	ENST00000375437.2	37	c.2616	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597435	0.66332	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.23	2.43	0.29744	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98071	0.9364	L	0.49455	1.56	0.47862	D	0.999537	D;D	0.89917	0.998;1.0	D;D	0.91635	0.936;0.999	D	0.97812	1.0251	10	0.87932	D	0	.	11.0636	0.47961	0.2131:0.0:0.7869:0.0	.	872;872	Q99250-2;Q99250	.;SCN2A_HUMAN	N	872	ENSP00000364586:K872N;ENSP00000349973:K872N;ENSP00000283256:K872N;ENSP00000364576:K872N	ENSP00000283256:K872N	K	+	3	2	SCN2A	165909364	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.176000	0.50863	0.717000	0.32145	0.650000	0.86243	AAG	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	70	0.00	0	G	NM_021007		166201118	166201118	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	1.000	C
SCN7A	6332	genome.wustl.edu	37	2	167285716	167285716	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:167285716C>T	ENST00000409855.1	-	16	2787	c.2661G>A	c.(2659-2661)atG>atA	p.M887I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	887					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCCATAGAACATTTCTTCTT	0.313																																						dbGAP											0													62.0	56.0	58.0					2																	167285716		1788	4033	5821	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2661G>A	2.37:g.167285716C>T	ENSP00000386796:p.Met887Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.M887I	ENST00000409855.1	37	c.2661	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	7.086	0.571274	0.13623	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.83506	-1.73	5.06	1.59	0.23543	Sodium ion transport-associated (1);	0.566367	0.18746	N	0.132329	T	0.74581	0.3735	L	0.50333	1.59	0.19945	N	0.999941	P	0.39624	0.681	B	0.40741	0.339	T	0.62877	-0.6761	10	0.34782	T	0.22	.	3.5057	0.07689	0.1588:0.5651:0.1553:0.1208	.	887	Q01118	SCN7A_HUMAN	I	887	ENSP00000386796:M887I	ENSP00000259060:M887I	M	-	3	0	SCN7A	166993962	0.032000	0.19561	0.177000	0.23020	0.345000	0.29048	-0.005000	0.12855	0.609000	0.30018	0.591000	0.81541	ATG	SCN7A	-	pfam_Na_trans_assoc	ENSG00000136546		0.313	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	69	0.00	0	C			167285716	167285716	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	0.145	T
SIRT7	51547	genome.wustl.edu	37	17	79870419	79870419	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:79870419G>C	ENST00000328666.6	-	10	1138	c.1076C>G	c.(1075-1077)tCg>tGg	p.S359W	PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000538721.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	359					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCTGCACAGCGACTTCCGACT	0.637																																						dbGAP											0													52.0	59.0	57.0					17																	79870419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.1076C>G	17.37:g.79870419G>C	ENSP00000329466:p.Ser359Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.S359W	ENST00000328666.6	37	c.1076	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605337	0.46423	.	.	ENSG00000187531	ENST00000328666	T	0.17854	2.25	4.74	2.69	0.31865	.	2.641670	0.01337	N	0.011459	T	0.16041	0.0386	N	0.08118	0	0.28765	N	0.900668	D;D	0.60575	0.988;0.988	P;P	0.50860	0.652;0.652	T	0.25813	-1.0121	10	0.37606	T	0.19	-0.8453	8.3176	0.32111	0.0837:0.0:0.7613:0.155	.	359;359	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	W	359	ENSP00000329466:S359W	ENSP00000329466:S359W	S	-	2	0	SIRT7	77463711	0.093000	0.21703	0.007000	0.13788	0.797000	0.45037	0.703000	0.25646	0.569000	0.29329	0.491000	0.48974	TCG	SIRT7	-	NULL	ENSG00000187531		0.637	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	65	0.00	0	G	NM_016538		79870419	79870419	-1	no_errors	ENST00000328666	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	0.288	C
SLC35F4	341880	genome.wustl.edu	37	14	58056019	58056019	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr14:58056019T>G	ENST00000339762.6	-	3	609	c.610A>C	c.(610-612)Aac>Cac	p.N204H	SLC35F4_ENST00000556826.1_Missense_Mutation_p.N168H|SLC35F4_ENST00000554729.1_Missense_Mutation_p.N45H			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	204					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGTTCCAGTTTGTTGAAAAC	0.343																																						dbGAP											0													99.0	98.0	99.0					14																	58056019		1840	4090	5930	-	-	-	SO:0001583	missense	0					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.610A>C	14.37:g.58056019T>G	ENSP00000342518:p.Asn204His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ3	Missense_Mutation	SNP	pfam_DMT,pfam_DUF914_euk	p.N204H	ENST00000339762.6	37	c.610		14	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406936	0.83230	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.50001	0.8;0.76;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	T	0.66089	-0.6010	10	0.44086	T	0.13	-17.6918	16.3594	0.83251	0.0:0.0:0.0:1.0	.	204	A4IF30	S35F4_HUMAN	H	168;204;45	ENSP00000452086:N168H;ENSP00000342518:N204H;ENSP00000451990:N45H	ENSP00000342518:N204H	N	-	1	0	SLC35F4	57125772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.266000	0.75297	0.455000	0.32223	AAC	SLC35F4	-	NULL	ENSG00000151812		0.343	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	HGNC	protein_coding		84	0.00	0	T	XM_292260		58056019	58056019	-1	no_errors	ENST00000339762	ensembl	human	known	69_37n	missense	38	37.70	23	SNP	1.000	G
SLC44A5	204962	genome.wustl.edu	37	1	75693410	75693410	+	Splice_Site	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:75693410C>T	ENST00000370855.5	-	13	1099		c.e13+1		SLC44A5_ENST00000535611.1_Splice_Site|SLC44A5_ENST00000370859.3_Splice_Site	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAAATACTCACTAAATGTGAA	0.318																																						dbGAP											0													77.0	79.0	78.0					1																	75693410		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.985+1G>A	1.37:g.75693410C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	-	e12+1	ENST00000370855.5	37	c.985+1	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215619	0.58452	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC44A5	75465998	1.000000	0.71417	0.968000	0.41197	0.326000	0.28443	7.294000	0.78760	2.813000	0.96785	0.655000	0.94253	.	SLC44A5	-	-	ENSG00000137968		0.318	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	80	0.00	0	C	NM_152697	Intron	75693410	75693410	-1	no_errors	ENST00000370855	ensembl	human	known	69_37n	splice_site	23	59.65	34	SNP	1.000	T
SLFN14	342618	genome.wustl.edu	37	17	33884375	33884375	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:33884375G>C	ENST00000415846.3	-	1	742	c.707C>G	c.(706-708)gCc>gGc	p.A236G	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	236							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						TTGAGTGTTGGCAAATGCAGA	0.388																																						dbGAP											0													108.0	82.0	90.0					17																	33884375		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.707C>G	17.37:g.33884375G>C	ENSP00000391101:p.Ala236Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW9	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.A236G	ENST00000415846.3	37	c.707	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645427	0.67358	.	.	ENSG00000236320	ENST00000415846	T	0.39592	1.07	4.63	4.63	0.57726	.	.	.	.	.	T	0.65749	0.2721	M	0.85945	2.785	0.24856	N	0.992372	D	0.76494	0.999	D	0.66084	0.941	T	0.58758	-0.7580	9	0.51188	T	0.08	-4.7704	13.1608	0.59542	0.0:0.0:1.0:0.0	.	236	P0C7P3	SLN14_HUMAN	G	236	ENSP00000391101:A236G	ENSP00000391101:A236G	A	-	2	0	SLFN14	30908488	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.110000	0.57831	2.561000	0.86390	0.655000	0.94253	GCC	SLFN14	-	pfam_ATPase_AAA-4	ENSG00000236320		0.388	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	77	0.00	0	G	NM_001129820		33884375	33884375	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	missense	37	32.73	18	SNP	1.000	C
SPAM1	6677	genome.wustl.edu	37	7	123594195	123594195	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:123594195G>A	ENST00000439500.1	+	4	1184	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	SPAM1_ENST00000402183.2_Missense_Mutation_p.E191K|SPAM1_ENST00000340011.5_Missense_Mutation_p.E191K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E191K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E191K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	191					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCAAAACAAGAATTTGAAAA	0.378																																						dbGAP											0													63.0	67.0	66.0					7																	123594195		2203	4299	6502	-	-	-	SO:0001583	missense	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.571G>A	7.37:g.123594195G>A	ENSP00000402123:p.Glu191Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.E191K	ENST00000439500.1	37	c.571	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062522	0.55432	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	6.17	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.936636	0.09161	N	0.840194	T	0.27349	0.0671	M	0.71581	2.175	0.09310	N	1	P;P	0.41673	0.759;0.759	B;B	0.40702	0.338;0.338	T	0.17410	-1.0370	9	.	.	.	-6.4602	8.0794	0.30735	0.1357:0.1296:0.7346:0.0	.	191;191	Q8TC30;P38567	.;HYALP_HUMAN	K	191	ENSP00000386028:E191K;ENSP00000417934:E191K;ENSP00000345849:E191K;ENSP00000402123:E191K;ENSP00000223028:E191K	.	E	+	1	0	SPAM1	123381431	0.334000	0.24739	0.004000	0.12327	0.074000	0.17049	0.889000	0.28282	0.950000	0.37743	0.655000	0.94253	GAA	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106304		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	53	0.00	0	G			123594195	123594195	+1	no_errors	ENST00000340011	ensembl	human	known	69_37n	missense	30	46.43	26	SNP	0.054	A
SPATA5L1	79029	genome.wustl.edu	37	15	45707816	45707816	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr15:45707816C>T	ENST00000305560.6	+	5	1775	c.1676C>T	c.(1675-1677)gCa>gTa	p.A559V	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A559V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	559						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCACTCCAGCAATTTTGTTT	0.338																																						dbGAP											0													64.0	62.0	63.0					15																	45707816		2198	4298	6496	-	-	-	SO:0001583	missense	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1676C>T	15.37:g.45707816C>T	ENSP00000305494:p.Ala559Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHR5|Q9H8W7|Q9HA41	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core	p.Q64*	ENST00000305560.6	37	c.190	CCDS10123.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.292492|4.292492	0.80914|0.80914	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000305560|ENST00000531624	D|.	0.94758|.	-3.51|.	5.54|5.54	5.54|5.54	0.83059|0.83059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.203283|.	0.42053|.	D|.	0.000763|.	T|.	0.61899|.	0.2384|.	L|L	0.39633|0.39633	1.23|1.23	0.34934|0.34934	D|D	0.749676|0.749676	D|.	0.55800|.	0.973|.	P|.	0.62382|.	0.901|.	T|.	0.65319|.	-0.6197|.	10|.	0.66056|.	D|.	0.02|.	-31.8488|-31.8488	18.4007|18.4007	0.90515|0.90515	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	559|.	Q9BVQ7|.	SPA5L_HUMAN|.	V|X	559|64	ENSP00000305494:A559V|.	ENSP00000305494:A559V|.	A|Q	+|+	2|1	0|0	SPATA5L1|SPATA5L1	43495108|43495108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.751000|3.751000	0.55165|0.55165	2.759000|2.759000	0.94783|0.94783	0.655000|0.655000	0.94253|0.94253	GCA|CAA	SPATA5L1	-	pfam_ATPase_AAA_core	ENSG00000171763		0.338	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	42	0.00	0	C	NM_024063		45707816	45707816	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531624	ensembl	human	novel	69_37n	nonsense	27	12.90	4	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158612286	158612286	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:158612286C>T	ENST00000368147.4	-	33	4832	c.4652G>A	c.(4651-4653)cGa>cAa	p.R1551Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1551					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGCTCAGATCGGCCATCGAC	0.443																																						dbGAP											0													92.0	92.0	92.0					1																	158612286		1978	4164	6142	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4652G>A	1.37:g.158612286C>T	ENSP00000357129:p.Arg1551Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R1551Q	ENST00000368147.4	37	c.4652	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418895	0.42918	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35421	1.31;1.31	5.26	2.44	0.29823	.	0.337334	0.16870	N	0.196178	T	0.10981	0.0268	L	0.35288	1.05	0.26681	N	0.971539	B	0.21225	0.053	B	0.19391	0.025	T	0.22871	-1.0204	10	0.59425	D	0.04	.	7.2577	0.26185	0.0:0.5927:0.0:0.4073	.	1551	P02549	SPTA1_HUMAN	Q	1551	ENSP00000357130:R1551Q;ENSP00000357129:R1551Q	ENSP00000357129:R1551Q	R	-	2	0	SPTA1	156878910	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	3.284000	0.51708	0.389000	0.25086	-0.150000	0.13652	CGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	70	0.00	0	C	NM_003126		158612286	158612286	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.796	T
SRRT	51593	genome.wustl.edu	37	7	100484569	100484569	+	Missense_Mutation	SNP	C	C	T	rs201528871		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr7:100484569C>T	ENST00000347433.4	+	14	1959	c.1801C>T	c.(1801-1803)Cgg>Tgg	p.R601W	SRRT_ENST00000457580.2_Missense_Mutation_p.R601W|SRRT_ENST00000388793.4_Missense_Mutation_p.R600W|SRRT_ENST00000432932.1_Missense_Mutation_p.R600W			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	601					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACGTGGAGCGGGATGAGAA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17200	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													68.0	80.0	76.0					7																	100484569		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1801C>T	7.37:g.100484569C>T	ENSP00000314491:p.Arg601Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.R600W	ENST00000347433.4	37	c.1798	CCDS34709.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.79	3.892747	0.72524	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.36	3.47	0.39725	.	0.056664	0.64402	D	0.000002	T	0.75874	0.3909	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.978	P;D;D;P	0.67548	0.895;0.952;0.915;0.544	T	0.77273	-0.2649	9	0.87932	D	0	.	12.1474	0.54031	0.3116:0.6884:0.0:0.0	.	600;600;601;601	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	W	601;600;600;601;231	.	ENSP00000314491:R601W	R	+	1	2	SRRT	100322505	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	1.618000	0.36954	0.562000	0.29204	0.561000	0.74099	CGG	SRRT	-	NULL	ENSG00000087087		0.647	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	70	0.00	0	C	NM_015908		100484569	100484569	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	missense	47	17.24	10	SNP	1.000	T
SSTR2	6752	genome.wustl.edu	37	17	71165749	71165749	+	Silent	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:71165749T>A	ENST00000357585.2	+	2	660	c.291T>A	c.(289-291)ccT>ccA	p.P97P	SSTR2_ENST00000315332.2_Silent_p.P97P|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	97					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGGGTCTGCCTTTCTTGGCTA	0.517																																						dbGAP											0													163.0	144.0	151.0					17																	71165749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.291T>A	17.37:g.71165749T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_2,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5	p.P97	ENST00000357585.2	37	c.291	CCDS11691.1	17																																																																																			SSTR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt	ENSG00000180616		0.517	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR2	HGNC	protein_coding	OTTHUMT00000441633.1	110	0.90	1	T			71165749	71165749	+1	no_errors	ENST00000357585	ensembl	human	known	69_37n	silent	70	32.69	34	SNP	1.000	A
STARD13	90627	genome.wustl.edu	37	13	33739512	33739512	+	Silent	SNP	A	A	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr13:33739512A>G	ENST00000336934.5	-	3	401	c.285T>C	c.(283-285)caT>caC	p.H95H	STARD13_ENST00000487412.1_5'UTR|STARD13-IT1_ENST00000456087.1_RNA|STARD13_ENST00000255486.4_Silent_p.H87H|STARD13_ENST00000399365.3_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	95	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAAGAAAATCATGATCATTCT	0.373																																						dbGAP											0													117.0	112.0	114.0					13																	33739512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.285T>C	13.37:g.33739512A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.H95	ENST00000336934.5	37	c.285	CCDS9348.1	13																																																																																			STARD13	-	pfam_SAM_2,superfamily_SAM/pointed	ENSG00000133121		0.373	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	68	0.00	0	A	NM_001243466		33739512	33739512	-1	no_errors	ENST00000336934	ensembl	human	known	69_37n	silent	26	18.75	6	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152527416	152527416	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:152527416C>G	ENST00000367255.5	-	126	23507	c.22906G>C	c.(22906-22908)Gac>Cac	p.D7636H	SYNE1_ENST00000448038.1_Missense_Mutation_p.D7565H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D2160H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D7248H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D7565H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D7636H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7636					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCACTGTCCGCCGAGAGA	0.517										HNSCC(10;0.0054)																												dbGAP											0													73.0	67.0	69.0					6																	152527416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22906G>C	6.37:g.152527416C>G	ENSP00000356224:p.Asp7636His	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D7636H	ENST00000367255.5	37	c.22906	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307830	0.60305	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000014	T	0.54062	0.1835	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.55891	-0.8069	10	0.66056	D	0.02	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	7636;7636;7565;7565	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	H	7636;282;7565;7636;7565;7248;2160;558	ENSP00000356224:D7636H;ENSP00000356226:D282H;ENSP00000396024:D7565H;ENSP00000265368:D7636H;ENSP00000390975:D7565H;ENSP00000341887:D7248H;ENSP00000349276:D2160H;ENSP00000356220:D558H	ENSP00000265368:D7636H	D	-	1	0	SYNE1	152569109	1.000000	0.71417	0.085000	0.20634	0.014000	0.08584	7.794000	0.85869	2.746000	0.94184	0.591000	0.81541	GAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	86	0.00	0	C	NM_182961		152527416	152527416	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.999	G
TBC1D8B	54885	genome.wustl.edu	37	X	106097454	106097454	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:106097454T>G	ENST00000357242.5	+	14	2454	c.2280T>G	c.(2278-2280)gaT>gaG	p.D760E	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D754E	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	760							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTATGAAGATATACATAGTA	0.343																																						dbGAP											0													90.0	73.0	79.0					X																	106097454		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2280T>G	X.37:g.106097454T>G	ENSP00000349781:p.Asp760Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.D760E	ENST00000357242.5	37	c.2280	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	T	0.123	-1.122907	0.01785	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.07444	3.19;3.19	4.67	-0.869	0.10649	.	0.122860	0.53938	N	0.000044	T	0.03651	0.0104	L	0.35288	1.05	0.39285	D	0.964621	B	0.06786	0.001	B	0.08055	0.003	T	0.44997	-0.9291	10	0.02654	T	1	-6.4313	1.4814	0.02437	0.1417:0.1693:0.1437:0.5454	.	760	Q0IIM8	TBC8B_HUMAN	E	760;754	ENSP00000349781:D760E;ENSP00000276175:D754E	ENSP00000276175:D754E	D	+	3	2	TBC1D8B	105984110	0.696000	0.27757	0.995000	0.50966	0.354000	0.29330	-0.189000	0.09629	-0.187000	0.10516	-0.505000	0.04504	GAT	TBC1D8B	-	NULL	ENSG00000133138		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	56	0.00	0	T	NM_017752		106097454	106097454	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	0.999	G
TDRD6	221400	genome.wustl.edu	37	6	46657757	46657757	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr6:46657757T>G	ENST00000316081.6	+	1	1892	c.1892T>G	c.(1891-1893)aTc>aGc	p.I631S	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.I631S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	631					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAATTAGTCATCCATATTCTT	0.398																																						dbGAP											0													51.0	53.0	52.0					6																	46657757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1892T>G	6.37:g.46657757T>G	ENSP00000346065:p.Ile631Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.I631S	ENST00000316081.6	37	c.1892	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795426	0.50208	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.16597	2.33;2.33	5.8	5.8	0.92144	.	0.347430	0.34802	N	0.003680	T	0.24851	0.0603	L	0.53249	1.67	0.41253	D	0.986726	D;D	0.63880	0.993;0.987	D;P	0.64237	0.923;0.839	T	0.00893	-1.1524	10	0.36615	T	0.2	-15.089	15.8195	0.78628	0.0:0.0:0.0:1.0	.	631;631	F5H5M3;O60522	.;TDRD6_HUMAN	S	631	ENSP00000443299:I631S;ENSP00000346065:I631S	ENSP00000346065:I631S	I	+	2	0	TDRD6	46765716	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	4.512000	0.60469	2.219000	0.72066	0.533000	0.62120	ATC	TDRD6	-	NULL	ENSG00000180113		0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	37	0.00	0	T	XM_166443		46657757	46657757	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	30	43.40	23	SNP	0.980	G
TEFM	79736	genome.wustl.edu	37	17	29226268	29226268	+	Silent	SNP	T	T	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:29226268T>C	ENST00000581216.1	-	4	1623	c.1002A>G	c.(1000-1002)ctA>ctG	p.L334L	TEFM_ENST00000580840.1_3'UTR|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	334					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										CTACTCTTTGTAGTTCAGTAG	0.383																																						dbGAP											0													117.0	115.0	115.0					17																	29226268		1836	4086	5922	-	-	-	SO:0001819	synonymous_variant	0				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.1002A>G	17.37:g.29226268T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	superfamily_RNaseH-like_dom	p.L334	ENST00000581216.1	37	c.1002	CCDS42291.1	17																																																																																			TEFM	-	superfamily_RNaseH-like_dom	ENSG00000172171		0.383	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	53	0.00	0	T	NM_024683		29226268	29226268	-1	no_errors	ENST00000581216	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	0.000	C
TIA1	7072	genome.wustl.edu	37	2	70442526	70442526	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr2:70442526C>G	ENST00000433529.2	-	11	1075	c.865G>C	c.(865-867)Gat>Cat	p.D289H	TIA1_ENST00000282574.4_Missense_Mutation_p.D289H|TIA1_ENST00000415783.2_Missense_Mutation_p.D278H|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000445587.1_Intron|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	289					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTTATCATATCAAGAGTTTCT	0.368																																						dbGAP											0													133.0	124.0	127.0					2																	70442526		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.865G>C	2.37:g.70442526C>G	ENSP00000401371:p.Asp289His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.D289H	ENST00000433529.2	37	c.865	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297557	0.81025	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.75050	-0.9;-0.9;1.76;-0.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.85946	0.1461	10	0.72032	D	0.01	-25.1897	18.9257	0.92544	0.0:1.0:0.0:0.0	.	278;289	P31483-2;P31483	.;TIA1_HUMAN	H	289;278;367;289;60	ENSP00000401371:D289H;ENSP00000404023:D278H;ENSP00000282574:D289H;ENSP00000402263:D60H	ENSP00000282574:D289H	D	-	1	0	TIA1	70296030	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	GAT	TIA1	-	NULL	ENSG00000116001		0.368	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	66	0.00	0	C	NM_022037		70442526	70442526	-1	no_errors	ENST00000433529	ensembl	human	known	69_37n	missense	99	18.85	23	SNP	1.000	G
TOP1	7150	genome.wustl.edu	37	20	39751880	39751880	+	Silent	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr20:39751880C>A	ENST00000361337.2	+	21	2491	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	747					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ACAACAAAACCCAGCGGGAGA	0.483			T	NUP98	AML*																																	dbGAP		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													81.0	71.0	74.0					20																	39751880		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.2241C>A	20.37:g.39751880C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI	p.T747	ENST00000361337.2	37	c.2241	CCDS13312.1	20																																																																																			TOP1	-	superfamily_DNA_brk_join_enz	ENSG00000198900		0.483	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	77	0.00	0	C			39751880	39751880	+1	no_errors	ENST00000361337	ensembl	human	known	69_37n	silent	49	37.18	29	SNP	1.000	A
TTLL6	284076	genome.wustl.edu	37	17	46882267	46882267	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:46882267C>T	ENST00000393382.3	-	2	331	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TTLL6_ENST00000470462.2_5'Flank	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTTCTCTTCGGAGTTTTCC	0.562											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													102.0	92.0	95.0					17																	46882267		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.190G>A	17.37:g.46882267C>T	ENSP00000377043:p.Glu64Lys	Somatic	942	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E64K	ENST00000393382.3	37	c.190	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395430	0.42512	.	.	ENSG00000170703	ENST00000440941;ENST00000393382;ENST00000456415;ENST00000418322	.	.	.	5.08	4.11	0.48088	.	.	.	.	.	T	0.29620	0.0739	M	0.63428	1.95	0.09310	N	1	D	0.54397	0.966	B	0.32533	0.147	T	0.34254	-0.9836	8	0.66056	D	0.02	.	9.5777	0.39468	0.0:0.9057:0.0:0.0943	.	16	Q8N841	TTLL6_HUMAN	K	64;16;16;66	.	ENSP00000365871:E16K	E	-	1	0	TTLL6	44237266	0.018000	0.18449	0.054000	0.19295	0.008000	0.06430	0.559000	0.23485	1.508000	0.48769	0.655000	0.94253	GAA	TTLL6	-	NULL	ENSG00000170703		0.562	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	141	0.00	0	C	NM_173623		46882267	46882267	-1	no_errors	ENST00000393382	ensembl	human	known	69_37n	missense	38	58.70	54	SNP	0.122	T
UBE4B	10277	genome.wustl.edu	37	1	10177641	10177642	+	Frame_Shift_Ins	INS	-	-	A	rs143511579		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:10177641_10177642insA	ENST00000253251.8	+	7	1773_1774	c.934_935insA	c.(934-936)gaafs	p.E312fs	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Frame_Shift_Ins_p.E441fs|UBE4B_ENST00000377157.3_Frame_Shift_Ins_p.E196fs					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGGAATAGAGGAAAAAAAAGCA	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.942dupA	1.37:g.10177649_10177649dupA	ENSP00000253251:p.Glu312fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.A444fs	ENST00000253251.8	37	c.1321_1322	CCDS110.1	1																																																																																			UBE4B	-	NULL	ENSG00000130939		0.366	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	48	0.00	0	-	NM_006048		10177641	10177642	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	A
UNC5D	137970	genome.wustl.edu	37	8	35606156	35606156	+	Silent	SNP	C	C	G	rs574027066		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr8:35606156C>G	ENST00000404895.2	+	12	2206	c.1878C>G	c.(1876-1878)gtC>gtG	p.V626V	UNC5D_ENST00000449677.1_Silent_p.V202V|UNC5D_ENST00000453357.2_Silent_p.V621V|UNC5D_ENST00000420357.1_Silent_p.V559V|UNC5D_ENST00000287272.2_Silent_p.V557V|UNC5D_ENST00000416672.1_Silent_p.V631V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	626	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCAGATGTCAGTTCTGAGC	0.488																																						dbGAP											0													168.0	146.0	153.0					8																	35606156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1878C>G	8.37:g.35606156C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.V626	ENST00000404895.2	37	c.1878	CCDS6093.2	8																																																																																			UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	68	0.00	0	C			35606156	35606156	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	silent	31	45.61	26	SNP	0.997	G
USH1G	124590	genome.wustl.edu	37	17	72916079	72916079	+	Silent	SNP	G	G	A	rs397515345		TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:72916079G>A	ENST00000319642.1	-	2	1034	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	284					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCGTGGCACGGGAGACGCTGT	0.692																																						dbGAP											0													37.0	47.0	44.0					17																	72916079		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.852C>T	17.37:g.72916079G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S284	ENST00000319642.1	37	c.852	CCDS32725.1	17																																																																																			USH1G	-	NULL	ENSG00000182040		0.692	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	17	0.00	0	G	NM_173477		72916079	72916079	-1	no_errors	ENST00000319642	ensembl	human	known	69_37n	silent	8	71.43	20	SNP	1.000	A
VPS13A	23230	genome.wustl.edu	37	9	79834980	79834980	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr9:79834980G>C	ENST00000360280.3	+	11	1125	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.E289Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.E289Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E289Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	289					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATAGCAATTGAATTTAATAA	0.279																																						dbGAP											0													48.0	49.0	49.0					9																	79834980		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.865G>C	9.37:g.79834980G>C	ENSP00000353422:p.Glu289Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E289Q	ENST00000360280.3	37	c.865	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915775	0.52546	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	1.02;0.85;0.93;1.02	5.49	4.59	0.56863	.	0.053436	0.64402	D	0.000001	T	0.57417	0.2052	L	0.44542	1.39	0.80722	D	1	P;D;D;D	0.76494	0.565;0.998;0.999;0.999	B;D;D;D	0.67382	0.326;0.929;0.951;0.951	T	0.51787	-0.8661	10	0.14656	T	0.56	.	16.3058	0.82848	0.0:0.1325:0.8675:0.0	.	289;289;289;289	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	289	ENSP00000365821:E289Q;ENSP00000365823:E289Q;ENSP00000353422:E289Q;ENSP00000349985:E289Q	ENSP00000349985:E289Q	E	+	1	0	VPS13A	79024800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.064000	0.71169	1.314000	0.45095	0.561000	0.74099	GAA	VPS13A	-	NULL	ENSG00000197969		0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	66	0.00	0	G	NM_015186		79834980	79834980	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	C
VSIG4	11326	genome.wustl.edu	37	X	65253420	65253420	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chrX:65253420A>T	ENST00000374737.4	-	2	416	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	VSIG4_ENST00000412866.2_Missense_Mutation_p.L103Q|VSIG4_ENST00000455586.2_Missense_Mutation_p.L103Q	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	103	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCATCTCCAGGGTGCTCAA	0.547																																						dbGAP											0													137.0	118.0	124.0					X																	65253420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.308T>A	X.37:g.65253420A>T	ENSP00000363869:p.Leu103Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.L103Q	ENST00000374737.4	37	c.308	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186496	0.57909	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866	T;T;T	0.73363	-0.74;-0.74;-0.74	4.79	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000314	D	0.84424	0.5469	M	0.79475	2.455	0.28958	N	0.889997	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.972;0.998;0.987;0.928;0.999	T	0.80103	-0.1522	10	0.87932	D	0	-2.2369	9.7758	0.40618	1.0:0.0:0.0:0.0	.	103;103;93;103;103	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	Q	103	ENSP00000363869:L103Q;ENSP00000411581:L103Q;ENSP00000394143:L103Q	ENSP00000363869:L103Q	L	-	2	0	VSIG4	65170145	0.550000	0.26489	0.697000	0.30258	0.716000	0.41182	4.157000	0.58144	1.568000	0.49683	0.481000	0.45027	CTG	VSIG4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155659		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	77	0.00	0	A	NM_007268		65253420	65253420	-1	no_errors	ENST00000374737	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.684	T
WDR64	128025	genome.wustl.edu	37	1	241959652	241959652	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr1:241959652G>T	ENST00000366552.2	+	26	3349	c.3142G>T	c.(3142-3144)Ggt>Tgt	p.G1048C	WDR64_ENST00000437684.2_Missense_Mutation_p.G881C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1048										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGAAGGGAGGTCATGTTCA	0.383																																						dbGAP											0													96.0	91.0	92.0					1																	241959652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3142G>T	1.37:g.241959652G>T	ENSP00000355510:p.Gly1048Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1048C	ENST00000366552.2	37	c.3142		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.191|9.191	1.026074|1.026074	0.19512|0.19512	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.48836	.|0.91;0.8;0.81	4.61|4.61	-2.24|-2.24	0.06909|0.06909	.|.	.|1.106670	.|0.06915	.|N	.|0.808390	T|T	0.36853|0.36853	0.0982|0.0982	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|P;P	.|0.51653	.|0.938;0.947	.|P;B	.|0.47206	.|0.541;0.241	T|T	0.23261|0.23261	-1.0193|-1.0193	5|10	.|0.51188	.|T	.|0.08	-0.0064|-0.0064	1.0791|1.0791	0.01639|0.01639	0.3702:0.1467:0.3328:0.1503|0.3702:0.1467:0.3328:0.1503	.|.	.|1048;601	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	D|C	526|1048;881;652	.|ENSP00000355510:G1048C;ENSP00000402446:G881C;ENSP00000406656:G652C	.|ENSP00000355510:G1048C	E|G	+|+	3|1	2|0	WDR64|WDR64	240026275|240026275	0.036000|0.036000	0.19791|0.19791	0.018000|0.018000	0.16275|0.16275	0.025000|0.025000	0.11179|0.11179	-0.812000|-0.812000	0.04496|0.04496	-0.543000|-0.543000	0.06240|0.06240	-0.311000|-0.311000	0.09066|0.09066	GAG|GGT	WDR64	-	NULL	ENSG00000162843		0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		57	0.00	0	G	NM_144625		241959652	241959652	+1	no_errors	ENST00000366552	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	0.200	T
ZBBX	79740	genome.wustl.edu	37	3	167000239	167000239	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr3:167000239T>C	ENST00000392766.2	-	19	2264	c.1924A>G	c.(1924-1926)Aac>Gac	p.N642D	ZBBX_ENST00000392764.1_Missense_Mutation_p.N613D|ZBBX_ENST00000455345.2_Missense_Mutation_p.N681D|ZBBX_ENST00000392767.2_Missense_Mutation_p.N642D|ZBBX_ENST00000307529.5_Missense_Mutation_p.N681D	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	642	Ser-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTAACAGAGTTGGAAAGTGGA	0.348																																						dbGAP											0													138.0	132.0	134.0					3																	167000239		1825	4071	5896	-	-	-	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1924A>G	3.37:g.167000239T>C	ENSP00000376519:p.Asn642Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.N681D	ENST00000392766.2	37	c.2041	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826868	0.16749	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10573	3.03;3.03;3.06;3.06;2.86	5.28	5.28	0.74379	.	0.885543	0.09872	N	0.744736	T	0.14056	0.0340	L	0.50333	1.59	0.09310	N	1	P;P	0.40731	0.728;0.608	B;B	0.39339	0.297;0.156	T	0.16748	-1.0392	10	0.52906	T	0.07	-2.5181	11.6216	0.51121	0.0:0.0:0.0:1.0	.	681;642	A8MT70-2;A8MT70	.;ZBBX_HUMAN	D	642;642;681;681;613	ENSP00000376519:N642D;ENSP00000376520:N642D;ENSP00000390232:N681D;ENSP00000305065:N681D;ENSP00000376517:N613D	ENSP00000305065:N681D	N	-	1	0	ZBBX	168482933	0.540000	0.26410	0.358000	0.25811	0.005000	0.04900	1.351000	0.34022	1.995000	0.58328	0.528000	0.53228	AAC	ZBBX	-	NULL	ENSG00000169064		0.348	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	49	0.00	0	T	NM_024687		167000239	167000239	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	0.018	C
ZBTB4	57659	genome.wustl.edu	37	17	7366443	7366443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr17:7366443C>A	ENST00000311403.4	-	4	2197	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.E620*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	620	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGTCAGTCTCTGAGATGCGG	0.632																																						dbGAP											0													50.0	33.0	39.0					17																	7366443		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1858G>T	17.37:g.7366443C>A	ENSP00000307858:p.Glu620*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E620*	ENST00000311403.4	37	c.1858	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.170516	0.98688	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3965	16.9408	0.86217	0.0:1.0:0.0:0.0	.	.	.	.	X	620	.	ENSP00000307858:E620X	E	-	1	0	ZBTB4	7307167	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.998000	0.76277	2.533000	0.85409	0.462000	0.41574	GAG	ZBTB4	-	NULL	ENSG00000174282		0.632	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	37	0.00	0	C	NM_020899		7366443	7366443	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	nonsense	28	30.00	12	SNP	1.000	A
ZNF541	84215	genome.wustl.edu	37	19	48058965	48058965	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:48058965C>G	ENST00000391901.3	-	1	148	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF541_ENST00000448976.1_Missense_Mutation_p.S50T|ZNF541_ENST00000314121.4_Missense_Mutation_p.S50T			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	50					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						GTCCAGACCACTCAGGCCAGC	0.587																																						dbGAP											0													61.0	64.0	63.0					19																	48058965		692	1591	2283	-	-	-	SO:0001583	missense	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.149G>C	19.37:g.48058965C>G	ENSP00000375770:p.Ser50Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S50T	ENST00000391901.3	37	c.149		19	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822635	0.50739	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.17528	2.41;2.3;2.27	6.07	4.98	0.66077	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.21105	N	0.999782	B	0.25486	0.127	B	0.15870	0.014	T	0.06643	-1.0815	9	0.56958	D	0.05	-6.0895	7.9005	0.29731	0.0:0.7548:0.1627:0.0825	.	50	Q9H0D2	ZN541_HUMAN	T	50	ENSP00000375770:S50T;ENSP00000313258:S50T;ENSP00000410847:S50T	ENSP00000313258:S50T	S	-	2	0	ZNF541	52750777	0.856000	0.29760	0.811000	0.32455	0.878000	0.50629	1.500000	0.35682	2.884000	0.98904	0.655000	0.94253	AGT	ZNF541	-	NULL	ENSG00000118156		0.587	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	53	0.00	0	C	NM_032255		48058965	48058965	-1	no_errors	ENST00000314121	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.761	G
ZNF592	9640	genome.wustl.edu	37	15	85326113	85326113	+	Silent	SNP	T	T	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr15:85326113T>A	ENST00000560079.2	+	4	495	c.207T>A	c.(205-207)atT>atA	p.I69I	ZNF592_ENST00000299927.3_Silent_p.I69I	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	69					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGTGTCATTGTCAAGAACA	0.532																																						dbGAP											0													88.0	82.0	84.0					15																	85326113		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.207T>A	15.37:g.85326113T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T2|Q504Y9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I69	ENST00000560079.2	37	c.207	CCDS32317.1	15																																																																																			ZNF592	-	NULL	ENSG00000166716		0.532	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	45	0.00	0	T	NM_014630		85326113	85326113	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	0.954	A
ZNF610	162963	genome.wustl.edu	37	19	52869627	52869627	+	Silent	SNP	C	C	A			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:52869627C>A	ENST00000403906.3	+	6	1452	c.996C>A	c.(994-996)acC>acA	p.T332T	ZNF610_ENST00000327920.8_Silent_p.T332T|ZNF610_ENST00000321287.8_Silent_p.T332T|ZNF610_ENST00000601151.1_Silent_p.T289T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	332					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTTCTCTAACCAATCATCAGA	0.403																																						dbGAP											0													66.0	66.0	66.0					19																	52869627		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.996C>A	19.37:g.52869627C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C3|Q86YH8|Q8NDS9	Silent	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.T332	ENST00000403906.3	37	c.996	CCDS12851.1	19																																																																																			ZNF610	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167554		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	44	0.00	0	C	NM_173530		52869627	52869627	+1	no_errors	ENST00000327920	ensembl	human	known	69_37n	silent	48	25.00	16	SNP	0.000	A
ZNF808	388558	genome.wustl.edu	37	19	53057483	53057483	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24Q-01A-12D-A167-09	TCGA-AR-A24Q-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2	cc88b2b8-d0af-45be-9b32-7849fa97deae	g.chr19:53057483G>T	ENST00000359798.4	+	5	1494	c.1314G>T	c.(1312-1314)caG>caT	p.Q438H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	438					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTTTCAGTCAGAAATCAACCC	0.378																																						dbGAP											0													45.0	49.0	48.0					19																	53057483		2189	4292	6481	-	-	-	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1314G>T	19.37:g.53057483G>T	ENSP00000352846:p.Gln438His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q369H	ENST00000359798.4	37	c.1107	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.538383	0.00942	.	.	ENSG00000198482	ENST00000359798	T	0.15487	2.42	1.4	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.02181	-0.65	0.09310	N	1	B	0.15930	0.015	B	0.25759	0.063	T	0.41395	-0.9511	9	0.13853	T	0.58	.	5.0292	0.14400	0.203:0.3313:0.4658:0.0	.	438	Q8N4W9	ZN808_HUMAN	H	438	ENSP00000352846:Q438H	ENSP00000352846:Q438H	Q	+	3	2	ZNF808	57749295	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.932000	0.00090	-1.391000	0.02085	-0.680000	0.03767	CAG	ZNF808	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	48	0.00	0	G	NM_001039886		53057483	53057483	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.000	T
