#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
ABAT	18	genome.wustl.edu	37	16	8857982	8857982	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr16:8857982G>A	ENST00000396600.2	+	7	1361	c.423G>A	c.(421-423)gaG>gaA	p.E141E	ABAT_ENST00000567812.1_Silent_p.E156E|ABAT_ENST00000425191.2_Silent_p.E141E|ABAT_ENST00000268251.8_Silent_p.E141E|ABAT_ENST00000569156.1_Silent_p.E141E	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	141					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACTTTGTGGAGAAGCTCCGGC	0.552																																						dbGAP											0													82.0	74.0	77.0					16																	8857982		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.423G>A	16.37:g.8857982G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.E141	ENST00000396600.2	37	c.423	CCDS10534.1	16																																																																																			ABAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	ENSG00000183044		0.552	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	24	0.00	0	G	NM_020686		8857982	8857982	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	silent	38	19.15	9	SNP	0.987	A
ABCA8	10351	genome.wustl.edu	37	17	66902212	66902212	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:66902212C>G	ENST00000269080.2	-	17	2388	c.2251G>C	c.(2251-2253)Gaa>Caa	p.E751Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.E791Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.E791Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	751					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATTTTCCTTCTAGCTTCAGG	0.313																																						dbGAP											0													131.0	131.0	131.0					17																	66902212		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2251G>C	17.37:g.66902212C>G	ENSP00000269080:p.Glu751Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E791Q	ENST00000269080.2	37	c.2371	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201760	0.79015	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.82893	-1.66;-1.66	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000029	D	0.91643	0.7359	M	0.86740	2.835	0.50313	D	0.999863	D;D;P;D;D	0.89917	1.0;0.999;0.756;0.999;0.998	D;D;B;D;D	0.87578	0.998;0.979;0.358;0.996;0.929	D	0.89146	0.3520	10	0.20046	T	0.44	.	17.8699	0.88808	0.0:1.0:0.0:0.0	.	730;791;791;791;751	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Q	751;791;730	ENSP00000269080:E751Q;ENSP00000402814:E791Q	ENSP00000269080:E751Q	E	-	1	0	ABCA8	64413807	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.430000	0.66501	2.801000	0.96364	0.655000	0.94253	GAA	ABCA8	-	NULL	ENSG00000141338		0.313	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	76	0.00	0	C	NM_007168		66902212	66902212	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	missense	24	61.90	39	SNP	1.000	G
ACAN	176	genome.wustl.edu	37	15	89400566	89400566	+	Missense_Mutation	SNP	G	G	C	rs371634636		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:89400566G>C	ENST00000561243.1	+	11	4750	c.4750G>C	c.(4750-4752)Gag>Cag	p.E1584Q	ACAN_ENST00000352105.7_Missense_Mutation_p.E1584Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E1584Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E1584Q			P16112	PGCA_HUMAN	aggrecan	1618	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTCTGGAGCTGAGGACCTCAG	0.537																																						dbGAP											0													86.0	90.0	89.0					15																	89400566		1873	4119	5992	-	-	-	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4750G>C	15.37:g.89400566G>C	ENSP00000453342:p.Glu1584Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E1584Q	ENST00000561243.1	37	c.4750	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543765	0.27563	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96651	-4.08;-4.08	5.69	3.56	0.40772	.	0.252793	0.20804	N	0.085376	D	0.97028	0.9029	M	0.80746	2.51	0.09310	N	1	D;D	0.71674	0.991;0.998	P;D	0.67103	0.824;0.949	D	0.90863	0.4740	10	0.10902	T	0.67	-5.9056	10.5621	0.45152	0.0825:0.1395:0.778:0.0	.	1584;1584	E7ENV9;E7EX88	.;.	Q	1584;1584;1470	ENSP00000387356:E1584Q;ENSP00000341615:E1584Q	ENSP00000268134:E1470Q	E	+	1	0	ACAN	87201570	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	0.069000	0.14552	2.684000	0.91462	0.655000	0.94253	GAG	ACAN	-	NULL	ENSG00000157766		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	33	0.00	0	G	NM_001135		89400566	89400566	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.483	C
ACPP	55	genome.wustl.edu	37	3	132036383	132036383	+	Missense_Mutation	SNP	G	G	T	rs143202571		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:132036383G>T	ENST00000336375.5	+	1	173	c.83G>T	c.(82-84)cGa>cTa	p.R28L	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.R28L|ACPP_ENST00000351273.7_Missense_Mutation_p.R28L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	28					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGCTAGACCGAAGTGTACTA	0.468																																						dbGAP											0													89.0	78.0	82.0					3																	132036383		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.83G>T	3.37:g.132036383G>T	ENSP00000337471:p.Arg28Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R28L	ENST00000336375.5	37	c.83	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	G	8.950	0.968028	0.18659	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.22945	3.13;1.93;3.13;3.28	5.08	-10.2	0.00374	.	1.707750	0.03167	N	0.170145	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.12993	-1.0526	10	0.23891	T	0.37	.	6.1342	0.20221	0.3119:0.4945:0.1091:0.0846	.	28;28;28	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	L	28	ENSP00000337471:R28L;ENSP00000418366:R28L;ENSP00000417744:R28L;ENSP00000323036:R28L	ENSP00000337471:R28L	R	+	2	0	ACPP	133519073	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.757000	0.00788	-2.585000	0.00460	-1.267000	0.01435	CGA	ACPP	-	NULL	ENSG00000014257		0.468	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2	33	0.00	0	G	NM_001099		132036383	132036383	+1	no_errors	ENST00000351273	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	0.000	T
ACTR3B	57180	genome.wustl.edu	37	7	152497655	152497655	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:152497655C>G	ENST00000256001.8	+	3	274	c.140C>G	c.(139-141)gCt>gGt	p.A47G	ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A47G|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	47						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GTTGACCAAGCTCAAAGGAGA	0.378																																						dbGAP											0													134.0	124.0	127.0					7																	152497655		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.140C>G	7.37:g.152497655C>G	ENSP00000256001:p.Ala47Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.A47G	ENST00000256001.8	37	c.140	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579404	0.46006	.	.	ENSG00000133627	ENST00000377776;ENST00000256001	D;D	0.97114	-4.25;-4.25	4.23	4.23	0.50019	.	0.000000	0.51477	U	0.000093	D	0.93436	0.7906	N	0.25060	0.705	0.80722	D	1	P;B	0.35700	0.516;0.006	B;B	0.38755	0.281;0.05	D	0.92237	0.5797	10	0.18710	T	0.47	.	15.6138	0.76748	0.0:1.0:0.0:0.0	.	47;47	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	G	47	ENSP00000367007:A47G;ENSP00000256001:A47G	ENSP00000256001:A47G	A	+	2	0	ACTR3B	152128588	1.000000	0.71417	0.989000	0.46669	0.777000	0.43975	7.491000	0.81471	1.911000	0.55334	0.555000	0.69702	GCT	ACTR3B	-	pfam_Actin-like,smart_Actin-like	ENSG00000133627		0.378	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	61	0.00	0	C	NM_020445		152497655	152497655	+1	no_errors	ENST00000256001	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	1.000	G
ADCK3	56997	genome.wustl.edu	37	1	227170601	227170601	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:227170601C>G	ENST00000366779.1	+	13	3717	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	ADCK3_ENST00000366778.1_Missense_Mutation_p.L264V|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.L316V|ADCK3_ENST00000458507.2_Missense_Mutation_p.L37V|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	316					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TCAGAAAACTCTCAACAACGA	0.652																																						dbGAP											0													23.0	24.0	24.0					1																	227170601		2201	4299	6500	-	-	-	SO:0001583	missense	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.946C>G	1.37:g.227170601C>G	ENSP00000355741:p.Leu316Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.L316V	ENST00000366779.1	37	c.946	CCDS1557.1	1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519736	0.44866	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.86953	2.85	0.80722	D	1	P	0.45594	0.862	P	0.44647	0.456	T	0.70088	-0.4968	10	0.49607	T	0.09	-40.8588	10.2207	0.43194	0.0:0.8529:0.0:0.1471	.	316	Q8NI60	ADCK3_HUMAN	V	316;264;316;241;37;161;267	ENSP00000355741:L316V;ENSP00000355740:L264V;ENSP00000355739:L316V;ENSP00000355738:L241V;ENSP00000403704:L37V;ENSP00000355737:L161V	ENSP00000355737:L161V	L	+	1	0	ADCK3	225237224	0.072000	0.21174	0.988000	0.46212	0.312000	0.27988	0.585000	0.23879	2.682000	0.91365	0.555000	0.69702	CTC	ADCK3	-	superfamily_Kinase-like_dom	ENSG00000163050		0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	17	0.00	0	C	NM_020247		227170601	227170601	+1	no_errors	ENST00000366777	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.955	G
AGFG2	3268	genome.wustl.edu	37	7	100146506	100146506	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:100146506G>A	ENST00000300176.4	+	2	405	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	AGFG2_ENST00000262935.4_Missense_Mutation_p.E95K	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	95	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGAGCCTGAAGTAGTATT	0.498																																						dbGAP											0													126.0	101.0	110.0					7																	100146506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.283G>A	7.37:g.100146506G>A	ENSP00000300176:p.Glu95Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E95K	ENST00000300176.4	37	c.283	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.677581	0.96764	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.45276	0.9;0.9	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.91663	3.23	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.78280	-0.2265	10	0.87932	D	0	-18.6473	18.0773	0.89431	0.0:0.0:1.0:0.0	.	95;95	O95081-2;O95081	.;AGFG2_HUMAN	K	95	ENSP00000300176:E95K;ENSP00000262935:E95K	ENSP00000262935:E95K	E	+	1	0	AGFG2	99984442	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.944000	0.92980	2.870000	0.98441	0.638000	0.83543	GAA	AGFG2	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	ENSG00000106351		0.498	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	28	0.00	0	G	NM_006076		100146506	100146506	+1	no_errors	ENST00000300176	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	A
AHNAK	79026	genome.wustl.edu	37	11	62285191	62285191	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:62285191G>A	ENST00000378024.4	-	5	16972	c.16698C>T	c.(16696-16698)atC>atT	p.I5566I	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5566	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCTCCTTTGATTTTTGGGC	0.522																																						dbGAP											0													161.0	171.0	168.0					11																	62285191		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16698C>T	11.37:g.62285191G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I5566	ENST00000378024.4	37	c.16698	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	29	0.00	0	G	NM_024060		62285191	62285191	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.987	A
AKR1C1	1645	genome.wustl.edu	37	10	5011086	5011086	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:5011086G>C	ENST00000380872.4	+	5	712	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.E174Q|AKR1C1_ENST00000380859.1_Missense_Mutation_p.E176Q	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	174					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CAGGCAGCTGGAGATGATCCT	0.537																																					Colon(130;2054 2316 13360 15380)	dbGAP											0													166.0	144.0	152.0					10																	5011086		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.520G>C	10.37:g.5011086G>C	ENSP00000370254:p.Glu174Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E174Q	ENST00000380872.4	37	c.520	CCDS7061.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.842009|2.842009	0.51057|0.51057	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859|ENST00000442997	T;T;T|.	0.23950|.	1.88;1.88;1.88|.	2.1|2.1	2.1|2.1	0.27182|0.27182	NADP-dependent oxidoreductase domain (3);|.	0.085719|.	0.47852|.	D|.	0.000211|.	T|T	0.53818|0.53818	0.1820|0.1820	L|L	0.41710|0.41710	1.295|1.295	0.43321|0.43321	D|D	0.995349|0.995349	P|.	0.51240|.	0.943|.	P|.	0.47827|.	0.558|.	T|T	0.49679|0.49679	-0.8914|-0.8914	10|5	0.54805|.	T|.	0.06|.	.|.	10.2386|10.2386	0.43299|0.43299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174|.	Q04828|.	AK1C1_HUMAN|.	Q|C	174;174;176|140	ENSP00000412248:E174Q;ENSP00000370254:E174Q;ENSP00000370240:E176Q|.	ENSP00000370240:E176Q|.	E|W	+|+	1|3	0|0	AKR1C1|AKR1C1	5001086|5001086	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.478000|0.478000	0.33099|0.33099	7.735000|7.735000	0.84939|0.84939	1.475000|1.475000	0.48197|0.48197	0.305000|0.305000	0.20034|0.20034	GAG|TGG	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000187134		0.537	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	83	0.00	0	G	NM_001353		5011086	5011086	+1	no_errors	ENST00000380872	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	1.000	C
AKT2	208	genome.wustl.edu	37	19	40742257	40742257	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:40742257G>C	ENST00000392038.2	-	10	1165	c.867C>G	c.(865-867)atC>atG	p.I289M	AKT2_ENST00000424901.1_Missense_Mutation_p.I289M|AKT2_ENST00000311278.6_Intron|AKT2_ENST00000579047.1_Missense_Mutation_p.I227M	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CAGTGATCTTGATGTGGCCAT	0.562			A		"""ovarian, pancreatic """																																	dbGAP		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													91.0	80.0	83.0					19																	40742257		2203	4300	6503	-	-	-	SO:0001583	missense	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.867C>G	19.37:g.40742257G>C	ENSP00000375892:p.Ile289Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	p.S37*	ENST00000392038.2	37	c.110	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579839	0.65992	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000391845	T;T	0.27402	1.67;1.67	5.69	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045357	0.85682	D	0.000000	T	0.58637	0.2136	M	0.87328	2.875	0.58432	D	0.999999	B;P	0.45672	0.396;0.864	P;P	0.62382	0.594;0.901	T	0.65504	-0.6152	10	0.87932	D	0	.	13.2724	0.60167	0.0:0.0:0.712:0.288	.	227;289	B4DG79;P31751	.;AKT2_HUMAN	M	289;190;289;109	ENSP00000375892:I289M;ENSP00000399532:I289M	ENSP00000375719:I190M	I	-	3	3	AKT2	45434097	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.412000	0.21131	1.393000	0.46605	-0.181000	0.13052	ATC	AKT2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom	ENSG00000105221		0.562	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	27	0.00	0	G	NM_001626		40742257	40742257	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000578310	ensembl	human	putative	69_37n	nonsense	22	15.38	4	SNP	1.000	C
ALMS1P	200420	genome.wustl.edu	37	2	73899496	73899496	+	RNA	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:73899496G>A	ENST00000450720.1	+	0	368					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												AAGTTCCAGCGAGGCTAAATT	0.453																																						dbGAP											0																																										-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73899496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.453	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	44	0.00	0	G	NR_003683		73899496	73899496	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	36	23.40	11	SNP	0.978	A
AMPD2	271	genome.wustl.edu	37	1	110171114	110171114	+	Silent	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:110171114C>A	ENST00000256578.3	+	11	1926	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	AMPD2_ENST00000342115.4_Silent_p.I441I|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.I447I|AMPD2_ENST00000528667.1_Silent_p.I522I|AMPD2_ENST00000528454.1_Silent_p.I404I|AMPD2_ENST00000393688.3_Silent_p.I403I	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	522			I -> V (in dbSNP:rs201254826). {ECO:0000269|PubMed:14702039}.		cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCACATCATCAAGGTAAGGA	0.532																																						dbGAP											0													75.0	79.0	77.0					1																	110171114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1566C>A	1.37:g.110171114C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.Q493K	ENST00000256578.3	37	c.1477	CCDS805.1	1	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777583	0.16120	.	.	ENSG00000116337	ENST00000369840	.	.	.	4.93	0.96	0.19631	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	-13.9388	6.7121	0.23282	0.1173:0.5948:0.0:0.2879	.	.	.	.	K	493	.	.	Q	+	1	0	AMPD2	109972637	0.999000	0.42202	0.994000	0.49952	0.681000	0.39784	0.650000	0.24858	-0.172000	0.10779	-2.069000	0.00389	CAA	AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116337		0.532	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1	20	0.00	0	C			110171114	110171114	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000369840	ensembl	human	novel	69_37n	missense	20	16.67	4	SNP	0.999	A
ANO2	57101	genome.wustl.edu	37	12	5848485	5848485	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:5848485C>G	ENST00000356134.5	-	14	1494	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	ANO2_ENST00000546188.1_Missense_Mutation_p.E475Q|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.E474Q	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	479					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAACTCACTTCTTCCTCTTCT	0.428																																						dbGAP											0													69.0	72.0	71.0					12																	5848485		1930	4128	6058	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1423G>C	12.37:g.5848485C>G	ENSP00000348453:p.Glu475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.E475Q	ENST00000356134.5	37	c.1423		12	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029207	0.54790	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.71103	-0.54;-0.54;-0.54;0.05	4.72	3.82	0.43975	.	0.046947	0.85682	N	0.000000	T	0.74465	0.3720	M	0.62209	1.925	0.58432	D	0.999999	B	0.31910	0.346	B	0.43889	0.435	T	0.74328	-0.3701	10	0.44086	T	0.13	.	14.0787	0.64907	0.0:0.8481:0.1518:0.0	.	474	Q9NQ90-3	.	Q	474;475;475;479;38	ENSP00000314048:E474Q;ENSP00000348453:E475Q;ENSP00000440981:E475Q;ENSP00000443813:E38Q	ENSP00000314048:E474Q	E	-	1	0	ANO2	5718746	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.879000	0.69690	1.188000	0.43014	0.561000	0.74099	GAA	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.428	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	36	0.00	0	C	NM_020373		5848485	5848485	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	G
APLP1	333	genome.wustl.edu	37	19	36362821	36362821	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:36362821G>A	ENST00000221891.4	+	6	925	c.733G>A	c.(733-735)Gag>Aag	p.E245K	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Missense_Mutation_p.E206K|APLP1_ENST00000586861.1_Missense_Mutation_p.E239K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	245	Poly-Glu.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACGAGGAAGAGGAGGAATC	0.617																																						dbGAP											0													82.0	84.0	83.0					19																	36362821		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.733G>A	19.37:g.36362821G>A	ENSP00000221891:p.Glu245Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.E245K	ENST00000221891.4	37	c.733	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428441	0.62844	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94138	-3.28;-3.36	4.63	4.63	0.57726	.	0.263863	0.27122	N	0.020828	D	0.87585	0.6214	L	0.27053	0.805	0.52099	D	0.999947	B;B;B;B	0.32245	0.319;0.277;0.275;0.361	B;B;B;B	0.33042	0.146;0.143;0.157;0.107	D	0.84861	0.0819	10	0.20519	T	0.43	-10.2228	12.9611	0.58458	0.0:0.0:1.0:0.0	.	239;206;245;245	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	K	206;245	ENSP00000441501:E206K;ENSP00000221891:E245K	ENSP00000221891:E245K	E	+	1	0	APLP1	41054661	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	6.481000	0.73608	2.126000	0.65437	0.462000	0.41574	GAG	APLP1	-	NULL	ENSG00000105290		0.617	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	15	0.00	0	G	NM_001024807		36362821	36362821	+1	no_errors	ENST00000221891	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	A
ARHGAP31	57514	genome.wustl.edu	37	3	119133900	119133900	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:119133900G>C	ENST00000264245.4	+	12	3656	c.3124G>C	c.(3124-3126)Gag>Cag	p.E1042Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1042					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGCCTAGCAGAGGGAAAGGA	0.592																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													96.0	107.0	103.0					3																	119133900		2068	4222	6290	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3124G>C	3.37:g.119133900G>C	ENSP00000264245:p.Glu1042Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1042Q	ENST00000264245.4	37	c.3124	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069778	0.36566	.	.	ENSG00000031081	ENST00000264245	T	0.08008	3.14	5.29	5.29	0.74685	.	0.428500	0.21880	N	0.067745	T	0.12178	0.0296	L	0.34521	1.04	0.39096	D	0.961187	D	0.54047	0.964	P	0.49140	0.601	T	0.03231	-1.1058	10	0.42905	T	0.14	.	16.2437	0.82429	0.0:0.0:1.0:0.0	.	1042	Q2M1Z3	RHG31_HUMAN	Q	1042	ENSP00000264245:E1042Q	ENSP00000264245:E1042Q	E	+	1	0	ARHGAP31	120616590	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	1.767000	0.38501	2.744000	0.94065	0.655000	0.94253	GAG	ARHGAP31	-	NULL	ENSG00000031081		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	33	0.00	0	G			119133900	119133900	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
ARMC10	83787	genome.wustl.edu	37	7	102732968	102732968	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:102732968G>A	ENST00000323716.3	+	5	965	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ARMC10_ENST00000541300.1_Intron|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000425331.1_Silent_p.L156L|ARMC10_ENST00000428183.2_Intron|ARMC10_ENST00000441711.2_Silent_p.L156L	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	191					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGTCCTCTGAACTCTGCTG	0.438																																						dbGAP											0													87.0	77.0	80.0					7																	102732968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.573G>A	7.37:g.102732968G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.L191	ENST00000323716.3	37	c.573	CCDS5728.1	7																																																																																			ARMC10	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000170632		0.438	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	52	0.00	0	G	NM_031905		102732968	102732968	+1	no_errors	ENST00000323716	ensembl	human	known	69_37n	silent	21	36.36	12	SNP	1.000	A
ATP8A2	51761	genome.wustl.edu	37	13	26155956	26155956	+	Splice_Site	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr13:26155956G>C	ENST00000381655.2	+	23	2149		c.e23-1		ATP8A2_ENST00000255283.8_Splice_Site|ATP8A2_ENST00000491840.1_Splice_Site	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCAATGTAGAATTTGCTGC	0.398																																						dbGAP											0													79.0	73.0	75.0					13																	26155956		1853	4097	5950	-	-	-	SO:0001630	splice_region_variant	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2008-1G>C	13.37:g.26155956G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Splice_Site	SNP	-	e23-1	ENST00000381655.2	37	c.2008-1	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666225	0.47677	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8A2	25053956	1.000000	0.71417	0.997000	0.53966	0.228000	0.25075	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	.	ATP8A2	-	-	ENSG00000132932		0.398	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	26	0.00	0	G	NM_016529	Intron	26155956	26155956	+1	no_errors	ENST00000381655	ensembl	human	known	69_37n	splice_site	16	36.00	9	SNP	1.000	C
AUH	549	genome.wustl.edu	37	9	94087618	94087618	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:94087618C>T	ENST00000375731.4	-	4	510	c.487G>A	c.(487-489)Gca>Aca	p.A163T	AUH_ENST00000422391.2_Missense_Mutation_p.A163T|AUH_ENST00000303617.5_Intron|AUH_ENST00000478465.1_5'UTR	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	163					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTAATCACTGCTCTTATTTTG	0.333																																						dbGAP											0													132.0	124.0	126.0					9																	94087618		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.487G>A	9.37:g.94087618C>T	ENSP00000364883:p.Ala163Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	pfam_Crotonase_core	p.A163T	ENST00000375731.4	37	c.487	CCDS6689.1	9	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960823	0.18583	.	.	ENSG00000148090	ENST00000375731;ENST00000422391	T;T	0.67865	-0.29;-0.29	5.01	2.14	0.27477	Crotonase, core (1);	0.306269	0.35525	N	0.003154	T	0.51126	0.1656	L	0.46947	1.48	0.39541	D	0.968828	B;B	0.24675	0.109;0.007	B;B	0.21360	0.034;0.006	T	0.32719	-0.9896	10	0.15952	T	0.53	.	6.5181	0.22258	0.1445:0.7014:0.0:0.154	.	163;163	B4DYI6;Q13825	.;AUHM_HUMAN	T	163	ENSP00000364883:A163T;ENSP00000402026:A163T	ENSP00000364883:A163T	A	-	1	0	AUH	93127439	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	1.788000	0.38714	0.380000	0.24823	0.655000	0.94253	GCA	AUH	-	pfam_Crotonase_core	ENSG00000148090		0.333	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUH	HGNC	protein_coding	OTTHUMT00000053032.1	52	0.00	0	C			94087618	94087618	-1	no_errors	ENST00000375731	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	T
BAZ1B	9031	genome.wustl.edu	37	7	72877401	72877401	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:72877401G>C	ENST00000339594.4	-	12	3438	c.3100C>G	c.(3100-3102)Cta>Gta	p.L1034V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L1034V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1034					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L1034V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCGTGCTAGATGAATAGAG	0.373																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											1	Substitution - Missense(1)	kidney(1)											176.0	181.0	180.0					7																	72877401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3100C>G	7.37:g.72877401G>C	ENSP00000342434:p.Leu1034Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1034V	ENST00000339594.4	37	c.3100	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964188	0.74131	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.34521	1.04	0.49389	D	0.999784	D	0.69078	0.997	D	0.78314	0.991	T	0.58504	-0.7625	10	0.27785	T	0.31	-12.8775	11.9345	0.52866	0.0878:0.0:0.9122:0.0	.	1034	Q9UIG0	BAZ1B_HUMAN	V	1034	ENSP00000342434:L1034V;ENSP00000385442:L1034V	ENSP00000342434:L1034V	L	-	1	2	BAZ1B	72515337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.564000	0.36375	2.656000	0.90262	0.591000	0.81541	CTA	BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.373	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	36	0.00	0	G	NM_032408		72877401	72877401	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	C
BMPR2	659	genome.wustl.edu	37	2	203329576	203329576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:203329576C>T	ENST00000374580.4	+	2	660	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Nonsense_Mutation_p.Q41*	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	41					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGATCCGTATCAGCAAGACCT	0.358																																						dbGAP											0													96.0	93.0	94.0					2																	203329576		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.121C>T	2.37:g.203329576C>T	ENSP00000363708:p.Gln41*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q41*	ENST00000374580.4	37	c.121	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.127248	0.97305	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	.	.	.	5.5	5.5	0.81552	.	0.107337	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.2687	0.66138	0.1488:0.8512:0.0:0.0	.	.	.	.	X	41	.	ENSP00000363702:Q41X	Q	+	1	0	BMPR2	203037821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.538000	0.60650	2.599000	0.87857	0.655000	0.94253	CAG	BMPR2	-	NULL	ENSG00000204217		0.358	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	21	0.00	0	C	NM_001204		203329576	203329576	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	nonsense	27	15.62	5	SNP	1.000	T
BRCA1	672	genome.wustl.edu	37	17	41276089	41276089	+	Missense_Mutation	SNP	C	C	G	rs80359887|rs80359871		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:41276089C>G	ENST00000357654.3	-	2	143	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	BRCA1_ENST00000309486.4_5'UTR|NBR2_ENST00000460115.1_RNA|BRCA1_ENST00000352993.3_Missense_Mutation_p.E9Q|BRCA1_ENST00000468300.1_Missense_Mutation_p.E9Q|BRCA1_ENST00000346315.3_Missense_Mutation_p.E9Q|BRCA1_ENST00000491747.2_Missense_Mutation_p.E9Q|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E9Q|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000351666.3_Missense_Mutation_p.E9Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E9Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	9					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTACTTCTTCAACGCGAAGA	0.303			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													109.0	95.0	100.0					17																	41276089		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.25G>C	17.37:g.41276089C>G	ENSP00000350283:p.Glu9Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING	p.E9Q	ENST00000357654.3	37	c.25	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251724	0.39797	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.6	1.46	0.22682	.	0.322271	0.22349	N	0.061231	D	0.86218	0.5880	L	0.39898	1.24	0.80722	D	1	D;B;B;P;D;D;P	0.71674	0.981;0.227;0.042;0.95;0.981;0.998;0.956	D;B;B;P;D;D;P	0.75484	0.954;0.068;0.037;0.73;0.932;0.986;0.702	T	0.81226	-0.1029	10	0.31617	T	0.26	-2.0963	9.3211	0.37964	0.0:0.5425:0.4575:0.0	.	9;9;9;9;9;9;9	E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;.;BRCA1_HUMAN	Q	9	ENSP00000350283:E9Q;ENSP00000326002:E9Q;ENSP00000312236:E9Q;ENSP00000246907:E9Q;ENSP00000338007:E9Q;ENSP00000417148:E9Q;ENSP00000418960:E9Q;ENSP00000420705:E9Q;ENSP00000420412:E9Q;ENSP00000419274:E9Q;ENSP00000419988:E9Q;ENSP00000419103:E9Q;ENSP00000417554:E9Q;ENSP00000420781:E9Q	ENSP00000246907:E9Q	E	-	1	0	BRCA1	38529615	1.000000	0.71417	0.867000	0.34043	0.827000	0.46813	1.500000	0.35682	0.195000	0.20347	-0.693000	0.03709	GAA	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.303	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	60	0.00	0	C	NM_007294		41276089	41276089	-1	no_errors	ENST00000471181	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.967	G
CCDC186	55088	genome.wustl.edu	37	10	115910964	115910964	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:115910964C>G	ENST00000369287.3	-	4	1041	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		259										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTAAGTTCTTCTATTCTTGAT	0.299																																						dbGAP											0													112.0	102.0	106.0					10																	115910964		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369287.3:c.775G>C	10.37:g.115910964C>G	ENSP00000358293:p.Glu259Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E259Q	ENST00000369287.3	37	c.775	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957428	0.92726	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.47528	0.84	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63202	-0.6690	10	0.36615	T	0.2	.	18.619	0.91315	0.0:1.0:0.0:0.0	.	259	Q7Z3E2	CJ118_HUMAN	Q	259;365	ENSP00000358293:E259Q	ENSP00000358293:E259Q	E	-	1	0	C10orf118	115900954	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.485000	0.66850	2.831000	0.97527	0.644000	0.83932	GAA	C10orf118	-	NULL	ENSG00000165813		0.299	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	56	0.00	0	C			115910964	115910964	-1	no_errors	ENST00000369287	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	1.000	G
C11orf30	56946	genome.wustl.edu	37	11	76257017	76257017	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:76257017G>C	ENST00000529032.1	+	19	3450	c.3450G>C	c.(3448-3450)ttG>ttC	p.L1150F	C11orf30_ENST00000334736.3_Missense_Mutation_p.L1150F|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1059F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1165F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L1151F|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Missense_Mutation_p.L1052F|C11orf30_ENST00000525919.1_Missense_Mutation_p.L1151F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1150					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTGACATTTTGAAAATGTCTT	0.443																																						dbGAP											0													97.0	91.0	93.0					11																	76257017		2200	4292	6492	-	-	-	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3450G>C	11.37:g.76257017G>C	ENSP00000432327:p.Leu1150Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.L1150F	ENST00000529032.1	37	c.3450	CCDS8244.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.81|13.81	2.348695|2.348695	0.41599|0.41599	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032|ENST00000531793	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.57388|.	0.2050|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.998;0.998;0.998;0.999;0.998;0.999|.	D;D;D;D;D;D|.	0.80764|.	0.991;0.991;0.991;0.994;0.991;0.994|.	T|.	0.50276|.	-0.8847|.	9|.	0.45353|.	T|.	0.12|.	-2.67|-2.67	19.3464|19.3464	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1059;1151;1165;1151;1052;1150|.	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589|.	.;.;.;.;.;EMSY_HUMAN|.	F|S	1052;1150;832;1165;1059;1151;1151;1150|9	.|.	ENSP00000334130:L1150F|.	L|X	+|+	3|2	2|2	C11orf30|C11orf30	75934665|75934665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.009000|7.009000	0.76347|0.76347	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	TTG|TGA	C11orf30	-	NULL	ENSG00000158636		0.443	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	36	0.00	0	G	NM_020193		76257017	76257017	+1	no_errors	ENST00000334736	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	C
DDIAS	220042	genome.wustl.edu	37	11	82643268	82643268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:82643268G>A	ENST00000533655.1	+	6	1100	c.888G>A	c.(886-888)tgG>tgA	p.W296*	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Nonsense_Mutation_p.W296*|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		296					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGGATTCATGGAGCCTTGTTT	0.448																																						dbGAP											0													74.0	74.0	74.0					11																	82643268		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000533655.1:c.888G>A	11.37:g.82643268G>A	ENSP00000435421:p.Trp296*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LK6|Q9H856	Nonsense_Mutation	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.W296*	ENST00000533655.1	37	c.888	CCDS8263.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.815884	0.96982	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	.	.	.	5.79	2.7	0.31948	.	0.600559	0.16327	N	0.219270	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9653	0.14087	0.0762:0.1288:0.5383:0.2567	.	.	.	.	X	296	.	.	W	+	3	0	C11orf82	82320916	0.408000	0.25360	0.773000	0.31616	0.926000	0.56050	1.489000	0.35562	1.422000	0.47177	0.557000	0.71058	TGG	C11orf82	-	NULL	ENSG00000165490		0.448	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	22	0.00	0	G			82643268	82643268	+1	no_errors	ENST00000430323	ensembl	human	known	69_37n	nonsense	17	34.62	9	SNP	0.005	A
C17orf104	284071	genome.wustl.edu	37	17	42739711	42739711	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:42739711G>A	ENST00000409122.2	+	3	373	c.231G>A	c.(229-231)caG>caA	p.Q77Q	C17orf104_ENST00000409464.1_5'Flank|C17orf104_ENST00000359945.3_Silent_p.Q77Q	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	77										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ACCTAAGGCAGACCTATACTC	0.328																																						dbGAP											0													142.0	131.0	135.0					17																	42739711		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.231G>A	17.37:g.42739711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Silent	SNP	NULL	p.Q77	ENST00000409122.2	37	c.231	CCDS45703.2	17																																																																																			C17orf104	-	NULL	ENSG00000180336		0.328	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	47	0.00	0	G	NM_001145080		42739711	42739711	+1	no_errors	ENST00000409122	ensembl	human	known	69_37n	silent	22	45.00	18	SNP	1.000	A
MFRP	83552	genome.wustl.edu	37	11	119215369	119215369	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:119215369C>T	ENST00000530681.1	-	7	1015	c.871G>A	c.(871-873)Gag>Aag	p.E291K	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.E291K|MFRP_ENST00000555262.1_Missense_Mutation_p.E291K|MFRP_ENST00000529147.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.E291K	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	291	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAATTGGTCTCATCACTGCCG	0.582																																						dbGAP											0													105.0	98.0	101.0					11																	119215369		2199	4295	6494	-	-	-	SO:0001583	missense	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.871G>A	11.37:g.119215369C>T	ENSP00000456533:p.Glu291Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt	p.E291K	ENST00000530681.1	37	c.871	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949924	0.73787	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	D;D;D	0.97924	-4.61;-4.61;-4.61	5.1	5.1	0.69264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.113042	0.64402	D	0.000019	D	0.99245	0.9737	H	0.97758	4.07	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.984;0.998	D	0.98871	1.0766	10	0.46703	T	0.11	-23.6028	18.5122	0.90921	0.0:1.0:0.0:0.0	.	291;291	B4DHN8;Q9BY79	.;MFRP_HUMAN	K	291	ENSP00000450509:E291K;ENSP00000391664:E291K;ENSP00000353291:E291K	ENSP00000353291:E291K	E	-	1	0	MFRP	118720579	1.000000	0.71417	0.388000	0.26195	0.026000	0.11368	6.732000	0.74790	2.532000	0.85374	0.561000	0.74099	GAG	MFRP	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000235718		0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	Clone_based_vega_gene	protein_coding	OTTHUMT00000415179.1	21	0.00	0	C	NM_031433		119215369	119215369	-1	no_errors	ENST00000449574	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	1.000	T
CACNA1S	779	genome.wustl.edu	37	1	201063115	201063115	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:201063115G>C	ENST00000362061.3	-	3	519	c.293C>G	c.(292-294)tCg>tGg	p.S98W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S98W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	98					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTTCAATCGAGAAGACAAT	0.522																																						dbGAP											0													84.0	85.0	85.0					1																	201063115		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.293C>G	1.37:g.201063115G>C	ENSP00000355192:p.Ser98Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.S98W	ENST00000362061.3	37	c.293	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117849	0.77323	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98531	-4.98;-4.98	4.3	4.3	0.51218	Ion transport (1);	0.290587	0.32935	N	0.005470	D	0.98576	0.9524	M	0.68593	2.085	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	D	0.99861	1.1083	10	0.87932	D	0	.	17.0711	0.86573	0.0:0.0:1.0:0.0	.	98	Q13698	CAC1S_HUMAN	W	98	ENSP00000355192:S98W;ENSP00000356307:S98W	ENSP00000355192:S98W	S	-	2	0	CACNA1S	199329738	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	9.678000	0.98647	2.102000	0.63906	0.561000	0.74099	TCG	CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.522	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	29	0.00	0	G	NM_000069		201063115	201063115	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	C
CANT1	124583	genome.wustl.edu	37	17	76991123	76991123	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:76991123G>A	ENST00000302345.2	-	3	1306	c.812C>T	c.(811-813)gCt>gTt	p.A271V	CANT1_ENST00000591773.1_Missense_Mutation_p.A271V|CANT1_ENST00000392446.5_Missense_Mutation_p.A271V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	271					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCCGGCAGCAGCCCGCAGGGC	0.637			T	ETV4	prostate																																	dbGAP		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													29.0	27.0	27.0					17																	76991123		2200	4289	6489	-	-	-	SO:0001583	missense	0			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.812C>T	17.37:g.76991123G>A	ENSP00000307674:p.Ala271Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	pfam_Apyrase,superfamily_Apyrase	p.A271V	ENST00000302345.2	37	c.812	CCDS11760.1	17	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438653	0.12104	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.85171	-1.95;-1.95	4.64	3.56	0.40772	.	0.427234	0.27358	N	0.019739	T	0.81202	0.4773	L	0.53249	1.67	0.09310	N	0.999999	B	0.32188	0.359	B	0.29267	0.1	T	0.74368	-0.3688	10	0.41790	T	0.15	-16.5964	15.3094	0.74019	0.0:0.0:0.85:0.15	.	271	Q8WVQ1	CANT1_HUMAN	V	271;271;220	ENSP00000307674:A271V;ENSP00000376241:A271V	ENSP00000307674:A271V	A	-	2	0	CANT1	74502718	0.362000	0.24980	0.010000	0.14722	0.018000	0.09664	3.372000	0.52387	2.129000	0.65627	0.462000	0.41574	GCT	CANT1	-	pfam_Apyrase,superfamily_Apyrase	ENSG00000171302		0.637	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CANT1	HGNC	protein_coding	OTTHUMT00000437723.2	19	0.00	0	G	NM_138793		76991123	76991123	-1	no_errors	ENST00000302345	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.004	A
CCDC39	339829	genome.wustl.edu	37	3	180379751	180379751	+	Silent	SNP	A	A	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:180379751A>G	ENST00000442201.2	-	3	374	c.255T>C	c.(253-255)caT>caC	p.H85H	CCDC39_ENST00000273654.4_Silent_p.H169H	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	85					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGGCCTTAAAATGTTCTTCAC	0.353																																						dbGAP											0													77.0	68.0	71.0					3																	180379751		1822	4080	5902	-	-	-	SO:0001819	synonymous_variant	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.255T>C	3.37:g.180379751A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H1	Silent	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.H85	ENST00000442201.2	37	c.255	CCDS46964.1	3																																																																																			CCDC39	-	superfamily_tRNA-bd_arm	ENSG00000145075		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	69	0.00	0	A	XM_291028		180379751	180379751	-1	no_errors	ENST00000442201	ensembl	human	known	69_37n	silent	55	47.62	50	SNP	1.000	G
CCNDBP1	23582	genome.wustl.edu	37	15	43486649	43486649	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:43486649G>A	ENST00000300213.4	+	10	1200	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.E159K|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	320	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GAAGGCACTTGAAATTACAAA	0.383																																						dbGAP											0													101.0	102.0	102.0					15																	43486649		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.958G>A	15.37:g.43486649G>A	ENSP00000300213:p.Glu320Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP	NULL	p.E320K	ENST00000300213.4	37	c.958	CCDS10092.1	15	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591830	0.86953	.	.	ENSG00000166946	ENST00000300213;ENST00000356633;ENST00000444658	T;T	0.44083	0.93;0.93	5.34	5.34	0.76211	.	0.314820	0.33834	N	0.004503	T	0.59376	0.2189	M	0.67953	2.075	0.43207	D	0.995064	D	0.69078	0.997	D	0.80764	0.994	T	0.51220	-0.8733	10	0.17369	T	0.5	-12.8937	14.4223	0.67193	0.0:0.0:1.0:0.0	.	320	O95273	CCDB1_HUMAN	K	320;159;192	ENSP00000300213:E320K;ENSP00000349047:E159K	ENSP00000300213:E320K	E	+	1	0	CCNDBP1	41273941	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.690000	0.68241	2.791000	0.96007	0.655000	0.94253	GAA	CCNDBP1	-	NULL	ENSG00000166946		0.383	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNDBP1	HGNC	protein_coding	OTTHUMT00000253203.1	57	0.00	0	G	NM_012142		43486649	43486649	+1	no_errors	ENST00000300213	ensembl	human	known	69_37n	missense	48	25.00	16	SNP	1.000	A
CCPG1	9236	genome.wustl.edu	37	15	55669182	55669182	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:55669182G>C	ENST00000310958.6	-	5	717	c.419C>G	c.(418-420)tCt>tGt	p.S140C	CCPG1_ENST00000425574.3_Missense_Mutation_p.S140C|CCPG1_ENST00000569205.1_Missense_Mutation_p.S140C|CCPG1_ENST00000442196.3_Missense_Mutation_p.S140C|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	140	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTGGCTGCTAGAGGAAGAGCC	0.383																																						dbGAP											0													80.0	78.0	79.0					15																	55669182		1830	4079	5909	-	-	-	SO:0001583	missense	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.419C>G	15.37:g.55669182G>C	ENSP00000311656:p.Ser140Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.S140C	ENST00000310958.6	37	c.419	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404630	0.42613	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.25749	3.77;3.77;1.78	5.04	4.13	0.48395	.	0.115936	0.64402	D	0.000009	T	0.43188	0.1236	M	0.63428	1.95	0.39575	D	0.969347	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.952;0.974	T	0.35847	-0.9772	10	0.49607	T	0.09	.	8.8574	0.35236	0.1693:0.0:0.8307:0.0	.	140;140;140	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	C	140	ENSP00000311656:S140C;ENSP00000403400:S140C;ENSP00000415128:S140C	ENSP00000311656:S140C	S	-	2	0	DYX1C1	53456474	1.000000	0.71417	0.224000	0.23877	0.694000	0.40290	3.572000	0.53849	1.098000	0.41479	0.585000	0.79938	TCT	CCPG1	-	NULL	ENSG00000260916		0.383	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	41	0.00	0	G	NM_004748		55669182	55669182	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.899	C
CCRL2	9034	genome.wustl.edu	37	3	46449655	46449655	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:46449655G>A	ENST00000399036.3	+	2	437	c.85G>A	c.(85-87)Gac>Aac	p.D29N	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.D41N|CCRL2_ENST00000400882.2_Missense_Mutation_p.D29N|CCRL2_ENST00000400880.3_Missense_Mutation_p.D29N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AGAGCAATGTGACAAGTATGA	0.522																																						dbGAP											0													81.0	84.0	83.0					3																	46449655		2121	4224	6345	-	-	-	SO:0001583	missense	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.85G>A	3.37:g.46449655G>A	ENSP00000381994:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.D41N	ENST00000399036.3	37	c.121	CCDS43079.1	3	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793867	0.31777	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.59502	0.26;0.26;0.26;1.65;0.26	4.77	-1.3	0.09259	.	2.702120	0.01796	N	0.032596	T	0.43986	0.1272	N	0.22421	0.69	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.16289	0.015;0.007	T	0.39396	-0.9616	10	0.54805	T	0.06	.	7.1419	0.25560	0.1944:0.4382:0.3674:0.0	.	41;29	O00421-2;O00421	.;CCRL2_HUMAN	N	29;41;29;29;29	ENSP00000381994:D29N;ENSP00000349967:D41N;ENSP00000383677:D29N;ENSP00000414957:D29N;ENSP00000383678:D29N	ENSP00000349967:D41N	D	+	1	0	CCRL2	46424659	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.155000	0.03163	0.017000	0.15025	0.561000	0.74099	GAC	CCRL2	-	prints_Chemokine_rcpt	ENSG00000121797		0.522	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	43	0.00	0	G			46449655	46449655	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.000	A
CD207	50489	genome.wustl.edu	37	2	71060130	71060130	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:71060130G>C	ENST00000410009.3	-	4	663	c.618C>G	c.(616-618)ttC>ttG	p.F206L		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	206	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AAAAGTAATAGAAGTTCCCCT	0.453																																						dbGAP											0													79.0	77.0	77.0					2																	71060130		1905	4130	6035	-	-	-	SO:0001583	missense	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.618C>G	2.37:g.71060130G>C	ENSP00000386378:p.Phe206Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F206L	ENST00000410009.3	37	c.618		2	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006234	0.07773	.	.	ENSG00000116031	ENST00000410009	T	0.16457	2.34	5.35	1.29	0.21616	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.121272	0.37809	N	0.001930	T	0.06371	0.0164	N	0.13140	0.3	0.35236	D	0.777382	P	0.43314	0.803	B	0.34824	0.19	T	0.38436	-0.9661	10	0.34782	T	0.22	.	3.0372	0.06126	0.1651:0.1387:0.5538:0.1424	.	206	Q9UJ71	CLC4K_HUMAN	L	206	ENSP00000386378:F206L	ENSP00000386378:F206L	F	-	3	2	CD207	70913638	0.987000	0.35691	0.998000	0.56505	0.762000	0.43233	-0.083000	0.11286	0.330000	0.23485	-0.137000	0.14449	TTC	CD207	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000116031		0.453	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	30	0.00	0	G	NM_015717		71060130	71060130	-1	no_errors	ENST00000410009	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	0.966	C
CDH16	1014	genome.wustl.edu	37	16	66947420	66947420	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr16:66947420C>G	ENST00000299752.4	-	8	1070	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	CDH16_ENST00000394055.3_Missense_Mutation_p.E293Q|CDH16_ENST00000565796.1_Missense_Mutation_p.E293Q|CDH16_ENST00000570262.1_Missense_Mutation_p.E213Q|CDH16_ENST00000568632.1_Missense_Mutation_p.E196Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGTCCAGCTCTCTGGTCACG	0.587																																						dbGAP											0													177.0	169.0	172.0					16																	66947420		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.877G>C	16.37:g.66947420C>G	ENSP00000299752:p.Glu293Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E293Q	ENST00000299752.4	37	c.877	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899808	0.33535	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51574	0.7;0.7	5.39	4.44	0.53790	Cadherin (5);Cadherin-like (1);	0.146929	0.47093	D	0.000246	T	0.40145	0.1105	L	0.42008	1.315	0.35545	D	0.80334	B;B;B	0.14438	0.002;0.01;0.009	B;B;B	0.22601	0.006;0.04;0.027	T	0.47761	-0.9092	10	0.48119	T	0.1	-14.2651	10.1791	0.42957	0.0:0.9076:0.0:0.0924	.	293;293;293	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Q	293;293;257	ENSP00000377619:E293Q;ENSP00000299752:E293Q	ENSP00000299752:E293Q	E	-	1	0	CDH16	65504921	0.914000	0.31030	0.748000	0.31131	0.914000	0.54420	1.691000	0.37721	1.280000	0.44463	0.655000	0.94253	GAG	CDH16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000166589		0.587	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	39	0.00	0	C	NM_004062		66947420	66947420	-1	no_errors	ENST00000299752	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.886	G
CDH23	64072	genome.wustl.edu	37	10	73563078	73563078	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:73563078C>G	ENST00000224721.6	+	54	7793	c.7788C>G	c.(7786-7788)ctC>ctG	p.L2596L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L351L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2591	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGCCCCCACTCTGGGGCACCA	0.612																																						dbGAP											0													26.0	31.0	30.0					10																	73563078		2040	4177	6217	-	-	-	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7788C>G	10.37:g.73563078C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L2594	ENST00000224721.6	37	c.7782		10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	18	0.00	0	C	NM_052836		73563078	73563078	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	1.000	G
CEP350	9857	genome.wustl.edu	37	1	180003060	180003060	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:180003060G>C	ENST00000367607.3	+	16	4207	c.3789G>C	c.(3787-3789)caG>caC	p.Q1263H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1263	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAAGTTCCCAGAAATCATTGC	0.413																																						dbGAP											0													118.0	113.0	115.0					1																	180003060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3789G>C	1.37:g.180003060G>C	ENSP00000356579:p.Gln1263His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q1263H	ENST00000367607.3	37	c.3789	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727181	0.30593	.	.	ENSG00000135837	ENST00000367607	T	0.58652	0.32	5.55	2.7	0.31948	.	0.000000	0.44902	D	0.000417	T	0.60818	0.2298	L	0.32530	0.975	0.32889	D	0.511572	D;P	0.67145	0.996;0.93	D;P	0.75484	0.986;0.541	T	0.64943	-0.6288	9	.	.	.	.	8.6682	0.34134	0.3056:0.0:0.6944:0.0	.	1263;1263	E7EU22;Q5VT06	.;CE350_HUMAN	H	1263	ENSP00000356579:Q1263H	.	Q	+	3	2	CEP350	178269683	1.000000	0.71417	0.992000	0.48379	0.255000	0.26057	0.932000	0.28884	0.316000	0.23135	-1.053000	0.02334	CAG	CEP350	-	NULL	ENSG00000135837		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	25	0.00	0	G	NM_014810		180003060	180003060	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	1.000	C
CHURC1	91612	genome.wustl.edu	37	14	65392796	65392796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:65392796C>T	ENST00000549115.1	+	3	379	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	CHURC1_ENST00000607599.1_Nonsense_Mutation_p.Q110*|CHURC1_ENST00000359118.2_Nonsense_Mutation_p.Q83*|FNTB_ENST00000542227.1_Intron|CHURC1_ENST00000548752.2_Intron|CHURC1-FNTB_ENST00000549987.1_Nonsense_Mutation_p.Q83*|CHURC1_ENST00000552002.2_Nonsense_Mutation_p.Q82*|FNTB_ENST00000447296.2_Nonsense_Mutation_p.Q82*			Q8WUH1	CHUR_HUMAN	churchill domain containing 1	109					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGATGAATTTCAGGTAAATAT	0.313																																						dbGAP											0													89.0	106.0	100.0					14																	65392796		2201	4288	6489	-	-	-	SO:0001587	stop_gained	0			AF060510	CCDS32101.1, CCDS32101.2, CCDS55921.1, CCDS55922.1	14q23.3	2011-09-28	2004-05-05	2004-05-07	ENSG00000258289	ENSG00000258289			20099	protein-coding gene	gene with protein product		608577		C14orf52			Standard	NM_145165		Approved	My015, FLJ33064		Q8WUH1	OTTHUMG00000170218	ENST00000549115.1:c.325C>T	14.37:g.65392796C>T	ENSP00000448050:p.Gln109*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ81|G3V1X3|G3V214|Q9H3K7	Nonsense_Mutation	SNP	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.Q82*	ENST00000549115.1	37	c.244	CCDS55921.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.384776|5.384776	0.95967|0.95967	.|.	.|.	ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000125954;ENSG00000125954|ENSG00000258289	ENST00000552002;ENST00000549115;ENST00000359118;ENST00000549987;ENST00000447296|ENST00000551093	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74412	.|0.3713	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72798	.|-0.4184	.|4	0.87932|.	D|.	0|.	-24.3075|-24.3075	18.1376|18.1376	0.89624|0.89624	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	110;109;83;83;82|88	.|.	ENSP00000352026:Q83X|.	Q|S	+|+	1|2	0|0	FNTB;CHURC1|CHURC1	64462549|64462549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.472000|6.472000	0.73567|0.73567	2.666000|2.666000	0.90696|0.90696	0.591000|0.591000	0.81541|0.81541	CAG|TCA	CHURC1-FNTB	-	pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125954		0.313	CHURC1-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	CHURC1-FNTB	HGNC	protein_coding	OTTHUMT00000408062.1	28	0.00	0	C	NM_145165		65392796	65392796	+1	no_errors	ENST00000447296	ensembl	human	known	69_37n	nonsense	27	18.18	6	SNP	1.000	T
CLCC1	23155	genome.wustl.edu	37	1	109479811	109479811	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:109479811C>G	ENST00000369971.2	-	10	1400	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.R303T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.R374T|CLCC1_ENST00000302500.4_Missense_Mutation_p.R303T|CLCC1_ENST00000356970.2_Missense_Mutation_p.R424T|CLCC1_ENST00000415331.1_Missense_Mutation_p.R374T|CLCC1_ENST00000348264.2_Missense_Mutation_p.R239T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.R239T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	424						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ATCTCTCTCTCTCAAAATCTC	0.522																																						dbGAP											0													160.0	140.0	147.0					1																	109479811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1271G>C	1.37:g.109479811C>G	ENSP00000358988:p.Arg424Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.R424T	ENST00000369971.2	37	c.1271	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652124	0.67472	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.45	4.48	0.54585	.	0.098576	0.46145	D	0.000304	T	0.59662	0.2210	M	0.70595	2.14	0.35485	D	0.798484	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.73708	0.981;0.961;0.943;0.966	T	0.64952	-0.6286	10	0.72032	D	0.01	-22.9491	8.2782	0.31885	0.254:0.5241:0.2219:0.0	.	239;303;374;424	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	T	424;424;374;303;239;374;239;303	ENSP00000349456:R424T;ENSP00000358988:R424T;ENSP00000411591:R374T;ENSP00000358986:R303T;ENSP00000358985:R239T;ENSP00000358987:R374T;ENSP00000337243:R239T;ENSP00000306552:R303T	ENSP00000306552:R303T	R	-	2	0	CLCC1	109281334	0.915000	0.31059	1.000000	0.80357	0.986000	0.74619	0.693000	0.25497	2.725000	0.93324	0.655000	0.94253	AGA	CLCC1	-	pfam_Chloride_chnl_CLIC-like	ENSG00000121940		0.522	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	58	0.00	0	C	NM_015127		109479811	109479811	-1	no_errors	ENST00000356970	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.995	G
CLEC4F	165530	genome.wustl.edu	37	2	71043268	71043268	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:71043268C>A	ENST00000272367.2	-	4	1321	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q415H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	415					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CACTGGCCTTCTGCAGATTGC	0.483																																					Colon(107;10 2157 6841 26035)	dbGAP											0													131.0	118.0	122.0					2																	71043268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1245G>T	2.37:g.71043268C>A	ENSP00000272367:p.Gln415His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q415H	ENST00000272367.2	37	c.1245	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235100	0.58886	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.42900	0.96;0.96	3.99	3.99	0.46301	.	0.368712	0.19987	N	0.101644	T	0.44891	0.1315	L	0.55481	1.735	0.09310	N	1	P;P	0.46395	0.877;0.877	P;P	0.47206	0.541;0.541	T	0.40794	-0.9544	10	0.66056	D	0.02	.	11.8881	0.52615	0.0:1.0:0.0:0.0	.	415;415	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	H	415	ENSP00000272367:Q415H;ENSP00000390581:Q415H	ENSP00000272367:Q415H	Q	-	3	2	CLEC4F	70896776	0.047000	0.20315	0.085000	0.20634	0.429000	0.31625	1.207000	0.32333	2.517000	0.84864	0.467000	0.42956	CAG	CLEC4F	-	NULL	ENSG00000152672		0.483	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	78	0.00	0	C	NM_173535		71043268	71043268	-1	no_errors	ENST00000272367	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.108	A
CNTFR	1271	genome.wustl.edu	37	9	34552694	34552694	+	Silent	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:34552694G>C	ENST00000378980.3	-	8	1220	c.927C>G	c.(925-927)ctC>ctG	p.L309L	CNTFR_ENST00000351266.4_Silent_p.L309L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	309					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCTCCGTGGTGAGGTGTCGCG	0.627																																						dbGAP											0													114.0	86.0	95.0					9																	34552694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.927C>G	9.37:g.34552694G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U050	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L309	ENST00000378980.3	37	c.927	CCDS6558.1	9																																																																																			CNTFR	-	NULL	ENSG00000122756		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	31	0.00	0	G			34552694	34552694	-1	no_errors	ENST00000351266	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.998	C
CP	1356	genome.wustl.edu	37	3	148896325	148896325	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:148896325G>A	ENST00000264613.6	-	16	3017	c.2755C>T	c.(2755-2757)Ctg>Ttg	p.L919L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	919	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACTAGAAACAGAAGGGCAAAT	0.388																																						dbGAP											0													93.0	86.0	88.0					3																	148896325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2755C>T	3.37:g.148896325G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Silent	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.L919	ENST00000264613.6	37	c.2755	CCDS3141.1	3																																																																																			CP	-	superfamily_Cupredoxin	ENSG00000047457		0.388	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	64	0.00	0	G	NM_000096		148896325	148896325	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	silent	44	54.17	52	SNP	1.000	A
CRTAM	56253	genome.wustl.edu	37	11	122709265	122709265	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:122709265G>C	ENST00000227348.4	+	1	58	c.11G>C	c.(10-12)aGa>aCa	p.R4T		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGTGGTGGAGAGTTCTCAGC	0.458																																						dbGAP											0													298.0	236.0	257.0					11																	122709265		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.11G>C	11.37:g.122709265G>C	ENSP00000227348:p.Arg4Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.R4T	ENST00000227348.4	37	c.11	CCDS8437.1	11	.	.	.	.	.	.	.	.	.	.	G	8.688	0.906656	0.17833	.	.	ENSG00000109943	ENST00000227348	T	0.57107	0.42	4.8	2.94	0.34122	.	1.042050	0.07586	N	0.921083	T	0.43831	0.1265	L	0.51422	1.61	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.32375	-0.9909	10	0.19147	T	0.46	.	5.7274	0.18020	0.1259:0.3323:0.5418:0.0	.	4	O95727	CRTAM_HUMAN	T	4	ENSP00000227348:R4T	ENSP00000227348:R4T	R	+	2	0	CRTAM	122214475	0.001000	0.12720	0.002000	0.10522	0.894000	0.52154	0.384000	0.20668	0.620000	0.30215	0.563000	0.77884	AGA	CRTAM	-	NULL	ENSG00000109943		0.458	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	74	0.00	0	G	NM_019604		122709265	122709265	+1	no_errors	ENST00000227348	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	0.005	C
CYP3A4	1576	genome.wustl.edu	37	7	99366074	99366074	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:99366074C>T	ENST00000336411.2	-	7	756	c.573G>A	c.(571-573)gtG>gtA	p.V191V	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Silent_p.V41V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	191					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	AGTCGATGTTCACTCCAAATG	0.398																																						dbGAP											0													175.0	155.0	162.0					7																	99366074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.573G>A	7.37:g.99366074C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P05184|Q16757|Q9UK50	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V191	ENST00000336411.2	37	c.573	CCDS5674.1	7																																																																																			CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-II	ENSG00000160868		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	60	0.00	0	C			99366074	99366074	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	silent	60	21.05	16	SNP	0.596	T
CYP4A11	1579	genome.wustl.edu	37	1	47400819	47400819	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:47400819G>C	ENST00000310638.4	-	6	674	c.643C>G	c.(643-645)Cag>Gag	p.Q215E	CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q215E|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q215E|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000457840.2_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	215					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	ATGTAGGACTGAGAATTCCTG	0.522																																						dbGAP											0													103.0	98.0	100.0					1																	47400819		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.643C>G	1.37:g.47400819G>C	ENSP00000311095:p.Gln215Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.Q215E	ENST00000310638.4	37	c.643	CCDS543.1	1	.	.	.	.	.	.	.	.	.	.	N	3.293	-0.144536	0.06627	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.66815	-0.23;-0.23;-0.23	5.13	-0.862	0.10673	.	0.818031	0.11404	N	0.567523	T	0.46541	0.1398	N	0.16266	0.395	0.19300	N	0.99998	B	0.12013	0.005	B	0.19666	0.026	T	0.33343	-0.9872	10	0.28530	T	0.3	.	9.5618	0.39373	0.0:0.1557:0.353:0.4914	.	215	Q02928	CP4AB_HUMAN	E	215	ENSP00000311095:Q215E;ENSP00000360971:Q215E;ENSP00000360972:Q215E	ENSP00000311095:Q215E	Q	-	1	0	CYP4A11	47173406	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.108000	0.10857	0.192000	0.20272	0.650000	0.86243	CAG	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000187048		0.522	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	50	0.00	0	G	NM_000778		47400819	47400819	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	0.000	C
DAP3	7818	genome.wustl.edu	37	1	155686914	155686914	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:155686914G>A	ENST00000368336.5	+	3	287	c.163G>A	c.(163-165)Gac>Aac	p.D55N	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.D55N|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.D55N|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.D55N	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	55					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAATGAGAATGACCCGGTGAG	0.453																																						dbGAP											0													88.0	90.0	89.0					1																	155686914		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.163G>A	1.37:g.155686914G>A	ENSP00000357320:p.Asp55Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.D55N	ENST00000368336.5	37	c.163	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	g	5.908	0.351537	0.11182	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.92;0.92;0.7	5.2	4.3	0.51218	.	0.101676	0.64402	D	0.000004	T	0.38453	0.1041	L	0.39898	1.24	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.888	D;D;B	0.87578	0.998;0.998;0.259	T	0.35649	-0.9780	10	0.09338	T	0.73	-25.5836	9.3797	0.38306	0.1643:0.0:0.8357:0.0	.	55;55;55	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	N	55	ENSP00000357320:D55N;ENSP00000341692:D55N;ENSP00000412605:D55N	ENSP00000341692:D55N	D	+	1	0	DAP3	153953538	0.996000	0.38824	0.909000	0.35828	0.024000	0.10985	2.755000	0.47540	1.436000	0.47453	-0.186000	0.12905	GAC	DAP3	-	NULL	ENSG00000132676		0.453	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	38	0.00	0	G	NM_004632		155686914	155686914	+1	no_errors	ENST00000343043	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	0.970	A
DFNB31	25861	genome.wustl.edu	37	9	117187341	117187341	+	Intron	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:117187341G>C	ENST00000362057.3	-	5	1335				DFNB31_ENST00000374059.3_Nonsense_Mutation_p.S26*|DFNB31_ENST00000265134.6_Intron	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGTGCATTTGAGCAGATCAA	0.512																																						dbGAP											0													125.0	114.0	118.0					9																	117187341		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1167-37C>G	9.37:g.117187341G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S26*	ENST00000362057.3	37	c.77	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.440620	0.99172	.	.	ENSG00000095397	ENST00000374059	.	.	.	4.0	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0381	0.25004	0.2366:0.0:0.7634:0.0	.	.	.	.	X	26	.	.	S	-	2	0	DFNB31	116227162	0.054000	0.20591	0.046000	0.18839	0.002000	0.02628	0.757000	0.26433	0.811000	0.34303	-0.291000	0.09656	TCA	DFNB31	-	NULL	ENSG00000095397		0.512	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	25	0.00	0	G	NM_015404		117187341	117187341	-1	no_errors	ENST00000374059	ensembl	human	known	69_37n	nonsense	26	16.13	5	SNP	0.018	C
DHX30	22907	genome.wustl.edu	37	3	47859511	47859511	+	Splice_Site	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:47859511G>T	ENST00000445061.1	+	4	435		c.e4-1		DHX30_ENST00000348968.4_Splice_Site|DHX30_ENST00000476446.1_Splice_Site|DHX30_ENST00000446256.2_Splice_Site	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30							cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		tctttccccagatcgggccca	0.602																																						dbGAP											0													147.0	134.0	139.0					3																	47859511		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.29-1G>T	3.37:g.47859511G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Splice_Site	SNP	-	e2-1	ENST00000445061.1	37	c.29-1	CCDS2759.1	3																																																																																			DHX30	-	-	ENSG00000132153		0.602	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	36	0.00	0	G	NM_138615	Intron	47859511	47859511	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	splice_site	33	15.38	6	SNP	1.000	T
DLST	1743	genome.wustl.edu	37	14	75355833	75355833	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:75355833G>A	ENST00000334220.4	+	4	243	c.182G>A	c.(181-183)aGa>aAa	p.R61K	DLST_ENST00000334212.6_Intron|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	61					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CGCTTTTTCAGAACTACAGCT	0.343																																						dbGAP											0													216.0	203.0	207.0					14																	75355833		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.182G>A	14.37:g.75355833G>A	ENSP00000335304:p.Arg61Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB	p.R61K	ENST00000334220.4	37	c.182	CCDS9833.1	14	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374160	0.61735	.	.	ENSG00000119689	ENST00000334220;ENST00000554806	T;T	0.15487	2.42;2.97	5.56	4.66	0.58398	.	0.142466	0.64402	D	0.000004	T	0.12689	0.0308	N	0.24115	0.695	0.80722	D	1	B;B;B	0.23650	0.089;0.005;0.026	B;B;B	0.23852	0.049;0.004;0.03	T	0.07673	-1.0760	10	0.35671	T	0.21	-42.7697	12.6188	0.56592	0.081:0.0:0.919:0.0	.	61;61;61	Q6IBS5;B7Z6J1;P36957	.;.;ODO2_HUMAN	K	61;44	ENSP00000335304:R61K;ENSP00000451957:R44K	ENSP00000238671:R44K	R	+	2	0	DLST	74425586	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.070000	0.57548	1.316000	0.45131	0.563000	0.77884	AGA	DLST	-	NULL	ENSG00000119689		0.343	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLST	HGNC	protein_coding	OTTHUMT00000413637.1	97	0.00	0	G			75355833	75355833	+1	no_errors	ENST00000334220	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	1.000	A
DLST	1743	genome.wustl.edu	37	14	75356620	75356620	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:75356620G>A	ENST00000334220.4	+	6	356	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	DLST_ENST00000334212.6_Intron|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	99	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CACAGTTGCAGAAGATGAAGT	0.433																																						dbGAP											0													197.0	190.0	192.0					14																	75356620		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.295G>A	14.37:g.75356620G>A	ENSP00000335304:p.Glu99Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB	p.E99K	ENST00000334220.4	37	c.295	CCDS9833.1	14	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785780	0.70337	.	.	ENSG00000119689	ENST00000334220;ENST00000554806	T;T	0.56776	0.44;0.44	5.25	5.25	0.73442	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.35341	1.055	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.83275	0.996;0.966;0.995	T	0.61098	-0.7131	10	0.33940	T	0.23	-35.1498	18.8375	0.92168	0.0:0.0:1.0:0.0	.	99;99;99	Q6IBS5;B7Z6J1;P36957	.;.;ODO2_HUMAN	K	99;82	ENSP00000335304:E99K;ENSP00000451957:E82K	ENSP00000238671:E82K	E	+	1	0	DLST	74426373	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.198000	0.94994	2.441000	0.82636	0.563000	0.77884	GAA	DLST	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB	ENSG00000119689		0.433	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLST	HGNC	protein_coding	OTTHUMT00000413637.1	79	0.00	0	G			75356620	75356620	+1	no_errors	ENST00000334220	ensembl	human	known	69_37n	missense	57	24.00	18	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	32717249	32717249	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:32717249G>C	ENST00000357033.4	-	8	1017	c.811C>G	c.(811-813)Caa>Gaa	p.Q271E	DMD_ENST00000288447.4_Missense_Mutation_p.Q263E|DMD_ENST00000378677.2_Missense_Mutation_p.Q267E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	271					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGTGCATTTGATGATGTAAC	0.363																																						dbGAP											0													176.0	141.0	153.0					X																	32717249		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.811C>G	X.37:g.32717249G>C	ENSP00000354923:p.Gln271Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q271E	ENST00000357033.4	37	c.811	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	g	12.51	1.958555	0.34565	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.71817	0.2;0.2;-0.6	5.58	4.68	0.58851	.	0.000000	0.36002	U	0.002842	T	0.60483	0.2272	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.23806	0.002;0.001;0.091;0.001	B;B;B;B	0.15484	0.003;0.006;0.013;0.003	T	0.58951	-0.7545	10	0.41790	T	0.15	.	15.7175	0.77681	0.0:0.1477:0.8523:0.0	.	263;263;271;267	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	E	263;267;271;271;148;263	ENSP00000367948:Q267E;ENSP00000354923:Q271E;ENSP00000288447:Q263E	ENSP00000288447:Q263E	Q	-	1	0	DMD	32627170	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.597000	0.61062	2.327000	0.79052	0.513000	0.50165	CAA	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	45	0.00	0	G	NM_004006		32717249	32717249	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	C
DNAH1	25981	genome.wustl.edu	37	3	52383095	52383095	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:52383095C>G	ENST00000420323.2	+	13	2559	c.2298C>G	c.(2296-2298)ctC>ctG	p.L766L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	766	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCTTTCTCAAGTGCGTAC	0.577																																						dbGAP											0													120.0	123.0	122.0					3																	52383095		2192	4278	6470	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2298C>G	3.37:g.52383095C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L766	ENST00000420323.2	37	c.2298	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	30	0.00	0	C	NM_015512		52383095	52383095	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	20	20.00	5	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196737067	196737067	+	Silent	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:196737067G>T	ENST00000312428.6	-	40	6640	c.6540C>A	c.(6538-6540)ctC>ctA	p.L2180L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {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)	p.L2180L(1)		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						AGAAATCACGGAGGTTGAACA	0.393																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											167.0	155.0	158.0					2																	196737067		1863	4100	5963	-	-	-	SO:0001819	synonymous_variant	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.6540C>A	2.37:g.196737067G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.L2180	ENST00000312428.6	37	c.6540	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	67	0.00	0	G	NM_018897		196737067	196737067	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	0.991	T
DPM1	8813	genome.wustl.edu	37	20	49552777	49552777	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr20:49552777C>G	ENST00000371588.5	-	8	612	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Missense_Mutation_p.E223Q|DPM1_ENST00000371583.5_Missense_Mutation_p.E191Q|AL034553.1_ENST00000584882.1_RNA	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	196					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATTAATTTCTCTAGAACTTCT	0.338																																						dbGAP											0													63.0	63.0	63.0					20																	49552777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.586G>C	20.37:g.49552777C>G	ENSP00000360644:p.Glu196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.E223Q	ENST00000371588.5	37	c.667	CCDS13434.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415819|1.415819	0.25552|0.25552	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.63580|.	-0.05;-0.05;-0.05;-0.05|.	5.88|5.88	3.87|3.87	0.44632|0.44632	Glycosyl transferase, family 2 (1);|.	0.281424|.	0.39475|.	N|.	0.001342|.	T|T	0.68815|0.68815	0.3042|0.3042	L|L	0.53249|0.53249	1.67|1.67	0.38980|0.38980	D|D	0.958938|0.958938	B;B|.	0.14438|.	0.002;0.01|.	B;B|.	0.18871|.	0.023;0.023|.	T|T	0.70676|0.70676	-0.4806|-0.4806	9|5	.|.	.|.	.|.	-8.9581|-8.9581	16.7797|16.7797	0.85560|0.85560	0.0:0.3669:0.6331:0.0|0.0:0.3669:0.6331:0.0	.|.	196;231|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	Q|T	196;223;231;191;191|230	ENSP00000360644:E196Q;ENSP00000360638:E223Q;ENSP00000360639:E191Q;ENSP00000394921:E191Q|.	.|.	E|R	-|-	1|2	0|0	DPM1|DPM1	48986184|48986184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.091000|2.091000	0.41691|0.41691	1.484000|1.484000	0.48361|0.48361	-0.165000|-0.165000	0.13383|0.13383	GAG|AGA	DPM1	-	pfam_Glyco_trans_2	ENSG00000000419		0.338	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM1	HGNC	protein_coding	OTTHUMT00000079716.1	21	0.00	0	C	NM_003859		49552777	49552777	-1	no_errors	ENST00000371582	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	1.000	G
DPP10	57628	genome.wustl.edu	37	2	116101489	116101489	+	Splice_Site	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:116101489G>C	ENST00000410059.1	+	3	751		c.e3+1		DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000409163.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGATCAATGGTAAGTGTATA	0.368																																						dbGAP											0													74.0	73.0	73.0					2																	116101489		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.271+1G>C	2.37:g.116101489G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	-	e3+1	ENST00000410059.1	37	c.283+1	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419735	0.62622	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9172	0.79531	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	115817959	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.292000	0.65673	2.832000	0.97577	0.585000	0.79938	.	DPP10	-	-	ENSG00000175497		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	48	0.00	0	G	NM_020868	Intron	116101489	116101489	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	splice_site	33	28.26	13	SNP	1.000	C
DPPA4	55211	genome.wustl.edu	37	3	109052730	109052730	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:109052730G>A	ENST00000335658.6	-	2	219	c.165C>T	c.(163-165)atC>atT	p.I55I	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	55			I -> V (in dbSNP:rs3762648). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TACTGCCTTTGATAGACATTT	0.413																																						dbGAP											0													250.0	237.0	241.0					3																	109052730		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.165C>T	3.37:g.109052730G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	NULL	p.S31L	ENST00000335658.6	37	c.92	CCDS33814.1	3																																																																																			DPPA4	-	NULL	ENSG00000121570		0.413	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	116	0.00	0	G	NM_018189		109052730	109052730	-1	no_errors	ENST00000495679	ensembl	human	known	69_37n	missense	74	48.97	71	SNP	0.000	A
DPY19L4	286148	genome.wustl.edu	37	8	95738635	95738635	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr8:95738635C>G	ENST00000414645.2	+	2	192	c.93C>G	c.(91-93)atC>atG	p.I31M		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	31						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAGAGAAAATCAGTGACATTC	0.333																																						dbGAP											0													64.0	68.0	67.0					8																	95738635		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.93C>G	8.37:g.95738635C>G	ENSP00000389630:p.Ile31Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.I31M	ENST00000414645.2	37	c.93	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374117	0.82573	.	.	ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519353;ENST00000519176	T;T	0.63744	-0.06;0.73	5.35	1.51	0.23008	.	0.359050	0.26951	N	0.021674	T	0.42268	0.1195	N	0.14661	0.345	0.20764	N	0.999854	B	0.19445	0.036	B	0.25759	0.063	T	0.31447	-0.9943	10	0.35671	T	0.21	-6.0539	10.2146	0.43160	0.0:0.6442:0.0:0.3558	.	31	Q7Z388	D19L4_HUMAN	M	31;31;4;2	ENSP00000389630:I31M;ENSP00000430417:I2M	ENSP00000389630:I31M	I	+	3	3	DPY19L4	95807811	0.019000	0.18553	0.508000	0.27688	0.606000	0.37113	-0.030000	0.12308	0.335000	0.23614	0.655000	0.94253	ATC	DPY19L4	-	NULL	ENSG00000156162		0.333	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	44	0.00	0	C	NM_181787		95738635	95738635	+1	no_errors	ENST00000414645	ensembl	human	known	69_37n	missense	33	10.26	4	SNP	0.243	G
ELOVL3	83401	genome.wustl.edu	37	10	103987420	103987420	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:103987420C>G	ENST00000370005.3	+	2	360	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	47					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CTACCTGGTTCTCATCGCTGT	0.547																																						dbGAP											0													297.0	242.0	261.0					10																	103987420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.139C>G	10.37:g.103987420C>G	ENSP00000359022:p.Leu47Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZL3|Q8N180	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.L47V	ENST00000370005.3	37	c.139	CCDS7531.1	10	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.195033	0.06259	.	.	ENSG00000119915	ENST00000370005	T	0.21932	1.98	4.38	2.36	0.29203	.	0.287773	0.24828	N	0.035276	T	0.13072	0.0317	L	0.31157	0.91	0.31437	N	0.672415	B	0.27192	0.171	B	0.37091	0.241	T	0.29640	-1.0005	10	0.02654	T	1	-18.3532	5.7458	0.18120	0.0:0.6495:0.1618:0.1887	.	47	Q9HB03	ELOV3_HUMAN	V	47	ENSP00000359022:L47V	ENSP00000359022:L47V	L	+	1	0	ELOVL3	103977410	0.965000	0.33210	0.980000	0.43619	0.036000	0.12997	0.800000	0.27042	0.938000	0.37419	0.462000	0.41574	CTC	ELOVL3	-	pfam_GNS1_SUR4	ENSG00000119915		0.547	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL3	HGNC	protein_coding	OTTHUMT00000050030.1	40	0.00	0	C	NM_152310		103987420	103987420	+1	no_errors	ENST00000370005	ensembl	human	known	69_37n	missense	59	24.36	19	SNP	0.790	G
ERCC5	2073	genome.wustl.edu	37	13	103510687	103510687	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr13:103510687C>T	ENST00000355739.4	+	6	2014	c.591C>T	c.(589-591)ccC>ccT	p.P197P	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P623S|ERCC5_ENST00000535557.1_Silent_p.P197P	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	197					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGCCTGCCCCCTGAAGTAA	0.393			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													105.0	106.0	106.0					13																	103510687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.591C>T	13.37:g.103510687C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.P197	ENST00000355739.4	37	c.591	CCDS32004.1	13																																																																																			ERCC5	-	tigrfam_XPGC_DNA_repair	ENSG00000134899		0.393	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	40	0.00	0	C			103510687	103510687	+1	no_errors	ENST00000355739	ensembl	human	known	69_37n	silent	16	40.74	11	SNP	0.066	T
ESRP2	80004	genome.wustl.edu	37	16	68265592	68265592	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr16:68265592C>G	ENST00000565858.1	-	11	1421	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	ESRP2_ENST00000473183.2_Missense_Mutation_p.L435F|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	445					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CATAGCGGTTCAAGACCTAGT	0.622																																						dbGAP											0													75.0	71.0	72.0					16																	68265592		2198	4299	6497	-	-	-	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1335G>C	16.37:g.68265592C>G	ENSP00000454554:p.Leu445Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.L445F	ENST00000565858.1	37	c.1335		16	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647441	0.47258	.	.	ENSG00000103067	ENST00000473183	T	0.31769	1.48	5.84	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.73962	2.25	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.78314	0.979;0.991	T	0.36114	-0.9761	10	0.62326	D	0.03	-13.045	5.4084	0.16335	0.2519:0.4729:0.2108:0.0644	.	445;435	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	F	435	ENSP00000418748:L435F	ENSP00000418748:L435F	L	-	3	2	ESRP2	66823093	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	1.313000	0.33585	0.069000	0.16605	-0.304000	0.09214	TTG	ESRP2	-	NULL	ENSG00000103067		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	38	0.00	0	C	NM_024939		68265592	68265592	-1	no_errors	ENST00000565858	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	G
EXOSC4	54512	genome.wustl.edu	37	8	145133638	145133638	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr8:145133638G>A	ENST00000316052.5	+	1	110	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Missense_Mutation_p.G3R	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	3					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCATGGCGGGGCTGGAGCT	0.711																																						dbGAP											0													7.0	11.0	10.0					8																	145133638		2115	4149	6264	-	-	-	SO:0001583	missense	0			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.7G>A	8.37:g.145133638G>A	ENSP00000315476:p.Gly3Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.G3R	ENST00000316052.5	37	c.7	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433401	0.62844	.	.	ENSG00000178896	ENST00000316052;ENST00000525936	T	0.70749	-0.51	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.00289	-1.7	0.48288	D	0.999624	B	0.33964	0.434	B	0.30572	0.117	T	0.48958	-0.8988	10	0.06494	T	0.89	-5.0419	11.6837	0.51472	0.0:0.179:0.821:0.0	.	3	Q9NPD3	EXOS4_HUMAN	R	3	ENSP00000315476:G3R	ENSP00000315476:G3R	G	+	1	0	EXOSC4	145205626	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.272000	0.89885	1.175000	0.42826	0.563000	0.77884	GGG	EXOSC4	-	NULL	ENSG00000178896		0.711	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	HGNC	protein_coding	OTTHUMT00000384065.1	9	0.00	0	G	NM_019037		145133638	145133638	+1	no_errors	ENST00000316052	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	A
FAHD2B	151313	genome.wustl.edu	37	2	97757395	97757395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:97757395G>A	ENST00000414820.1	-	3	319	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	FAHD2B_ENST00000440566.2_Nonsense_Mutation_p.Q17*|FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000272610.3_Nonsense_Mutation_p.Q17*			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	17							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGCCACTTCTGAGCCTGCAGC	0.567																																						dbGAP											0													64.0	64.0	64.0					2																	97757395		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.49C>T	2.37:g.97757395G>A	ENSP00000410470:p.Gln17*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXH7|Q8NDK1	Nonsense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.Q17*	ENST00000414820.1	37	c.49	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	g	18.35	3.603859	0.66445	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	.	.	.	0.596	0.596	0.17496	.	0.810667	0.11066	N	0.603423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	6.9897	0.24748	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	17	.	ENSP00000272610:Q17X	Q	-	1	0	FAHD2B	97121122	0.090000	0.21635	0.413000	0.26509	0.257000	0.26127	1.087000	0.30865	0.569000	0.29329	0.281000	0.19383	CAG	FAHD2B	-	NULL	ENSG00000144199		0.567	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	36	0.00	0	G	NM_199336		97757395	97757395	-1	no_errors	ENST00000272610	ensembl	human	known	69_37n	nonsense	37	27.45	14	SNP	0.968	A
FAM120C	54954	genome.wustl.edu	37	X	54160448	54160448	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:54160448C>G	ENST00000375180.2	-	8	1704	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	FAM120C_ENST00000328235.4_Missense_Mutation_p.E550Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	550							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTTCCCCACTCAGGCTGGTGA	0.458																																						dbGAP											0													63.0	48.0	53.0					X																	54160448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1648G>C	X.37:g.54160448C>G	ENSP00000364324:p.Glu550Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT7	Missense_Mutation	SNP	NULL	p.E550Q	ENST00000375180.2	37	c.1648	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	0.912	-0.718865	0.03182	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.43688	0.94;0.94	5.53	3.76	0.43208	.	0.224005	0.46145	D	0.000314	T	0.21186	0.0510	N	0.08118	0	0.80722	D	1	B;B	0.28880	0.202;0.226	B;B	0.32465	0.146;0.076	T	0.04693	-1.0933	10	0.13470	T	0.59	-0.0639	8.5694	0.33561	0.0:0.7471:0.0:0.2529	.	550;550	F8W881;Q9NX05	.;F120C_HUMAN	Q	550	ENSP00000364324:E550Q;ENSP00000329896:E550Q	ENSP00000329896:E550Q	E	-	1	0	FAM120C	54177173	0.999000	0.42202	0.992000	0.48379	0.299000	0.27559	1.371000	0.34250	0.600000	0.29862	0.600000	0.82982	GAG	FAM120C	-	NULL	ENSG00000184083		0.458	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	32	0.00	0	C	NM_017848		54160448	54160448	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.991	G
FAM129C	199786	genome.wustl.edu	37	19	17654376	17654376	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:17654376G>A	ENST00000335393.4	+	13	1721	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000595684.1_Missense_Mutation_p.R528Q|FAM129C_ENST00000601861.1_Missense_Mutation_p.R497Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R474Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R254Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R528Q|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.R528Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R497Q	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	528										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGGTTCATCCGAGGCTGGGGT	0.557																																						dbGAP											0													99.0	86.0	90.0					19																	17654376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1583G>A	19.37:g.17654376G>A	ENSP00000335040:p.Arg528Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.R528Q	ENST00000335393.4	37	c.1583	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	g	11.22	1.574514	0.28092	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T	0.26067	2.13;2.15;1.9;1.76	5.01	-1.55	0.08558	.	0.923045	0.09116	N	0.846373	T	0.14960	0.0361	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.30033	0.007;0.218;0.007;0.001;0.266	B;B;B;B;B	0.16722	0.005;0.016;0.005;0.001;0.016	T	0.32188	-0.9916	10	0.07030	T	0.85	-8.2751	7.7254	0.28757	0.6374:0.0:0.3626:0.0	.	474;528;528;254;528	E7ENP6;Q86XR2;Q86XR2-3;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.	Q	528;528;528;254;474	ENSP00000335040:R528Q;ENSP00000333447:R528Q;ENSP00000300971:R528Q;ENSP00000394929:R254Q	ENSP00000300971:R528Q	R	+	2	0	FAM129C	17515376	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.457000	0.21875	-0.067000	0.12976	-0.693000	0.03709	CGA	FAM129C	-	NULL	ENSG00000167483		0.557	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	51	0.00	0	G	NM_173544		17654376	17654376	+1	no_errors	ENST00000335393	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	0.000	A
FAM171A1	221061	genome.wustl.edu	37	10	15255759	15255759	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:15255759C>T	ENST00000378116.4	-	8	1834	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	610						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTTTCTATCTCAAGCTGCTGA	0.592																																						dbGAP											0													65.0	73.0	70.0					10																	15255759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1828G>A	10.37:g.15255759C>T	ENSP00000367356:p.Glu610Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E610K	ENST00000378116.4	37	c.1828	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060593	0.36373	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.32753	1.44	5.52	5.52	0.82312	.	0.338515	0.32687	N	0.005765	T	0.36524	0.0970	L	0.58101	1.795	0.58432	D	0.999994	P	0.40578	0.722	B	0.40825	0.341	T	0.04347	-1.0958	10	0.30078	T	0.28	-14.2032	19.6296	0.95694	0.0:1.0:0.0:0.0	.	610	Q5VUB5	F1711_HUMAN	K	610;609	ENSP00000367356:E610K	ENSP00000367356:E610K	E	-	1	0	FAM171A1	15295765	1.000000	0.71417	0.337000	0.25536	0.019000	0.09904	5.841000	0.69409	2.873000	0.98535	0.563000	0.77884	GAG	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.592	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	16	0.00	0	C	XM_167709		15255759	15255759	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.998	T
NUTM2G	441457	genome.wustl.edu	37	9	99694157	99694157	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:99694157C>G	ENST00000372322.3	+	2	191	c.170C>G	c.(169-171)tCt>tGt	p.S57C	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.S57C	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	57								p.S57C(2)									CTGGTGCTCTCTGCCTTCCCC	0.657																																						dbGAP											2	Substitution - Missense(2)	lung(2)											16.0	22.0	20.0					9																	99694157		1882	4083	5965	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.170C>G	9.37:g.99694157C>G	ENSP00000361397:p.Ser57Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.S57C	ENST00000372322.3	37	c.170	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	9.693	1.152331	0.21371	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.36340	1.26;1.26	1.03	0.0762	0.14402	.	.	.	.	.	T	0.42268	0.1195	L	0.58810	1.83	0.09310	N	1	D	0.63880	0.993	P	0.56514	0.8	T	0.25293	-1.0136	9	0.59425	D	0.04	.	3.5464	0.07829	0.0:0.7175:0.0:0.2825	.	57	Q5VZR2-2	.	C	57	ENSP00000346670:S57C;ENSP00000361397:S57C	ENSP00000346670:S57C	S	+	2	0	FAM22G	98733978	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.534000	0.23098	0.030000	0.15379	-0.459000	0.05422	TCT	FAM22G	-	NULL	ENSG00000188152		0.657	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	19	0.00	0	C	NM_001170741		99694157	99694157	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.001	G
FAM24A	118670	genome.wustl.edu	37	10	124671228	124671228	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:124671228C>G	ENST00000368894.1	+	2	199	c.78C>G	c.(76-78)ctC>ctG	p.L26L		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	26						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CGATGGTGCTCCTAAGTGTTG	0.468																																						dbGAP											0													455.0	411.0	426.0					10																	124671228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.78C>G	10.37:g.124671228C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L26	ENST00000368894.1	37	c.78	CCDS31304.1	10																																																																																			FAM24A	-	NULL	ENSG00000203795		0.468	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM24A	HGNC	protein_coding	OTTHUMT00000050824.1	72	0.00	0	C	XM_058332		124671228	124671228	+1	no_errors	ENST00000368894	ensembl	human	known	69_37n	silent	73	19.78	18	SNP	0.006	G
FDFT1	2222	genome.wustl.edu	37	8	11660352	11660352	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr8:11660352T>C	ENST00000220584.4	+	1	233	c.11T>C	c.(10-12)gTg>gCg	p.V4A	FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000528812.1_5'Flank|FDFT1_ENST00000525900.1_Missense_Mutation_p.V4A|RP11-297N6.4_ENST00000533405.1_5'Flank|FDFT1_ENST00000443614.2_Missense_Mutation_p.V4A	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	4					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATGGAGTTCGTGAAATGCCTT	0.672																																						dbGAP											0													44.0	37.0	39.0					8																	11660352		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.11T>C	8.37:g.11660352T>C	ENSP00000220584:p.Val4Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.V4A	ENST00000220584.4	37	c.11	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604287	0.46423	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900	T;T;T;T	0.48836	0.8;1.33;1.37;1.32	5.04	5.04	0.67666	.	0.469778	0.20575	N	0.089653	T	0.40862	0.1134	L	0.40543	1.245	0.80722	D	1	B;B;B	0.21071	0.024;0.051;0.051	B;B;B	0.17433	0.013;0.018;0.018	T	0.24190	-1.0167	10	0.41790	T	0.15	-23.4573	14.3071	0.66391	0.0:0.0:0.0:1.0	.	4;4;4	B4DJE5;E9PNM1;P37268	.;.;FDFT_HUMAN	A	4	ENSP00000431852:V4A;ENSP00000220584:V4A;ENSP00000390367:V4A;ENSP00000434714:V4A	ENSP00000220584:V4A	V	+	2	0	FDFT1	11697761	1.000000	0.71417	0.995000	0.50966	0.323000	0.28346	6.231000	0.72307	2.037000	0.60232	0.397000	0.26171	GTG	FDFT1	-	NULL	ENSG00000079459		0.672	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	9	0.00	0	T			11660352	11660352	+1	no_errors	ENST00000220584	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	1.000	C
FERMT2	10979	genome.wustl.edu	37	14	53326539	53326539	+	Intron	DEL	T	T	-			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:53326539delT	ENST00000395631.2	-	14	1944				FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGTACTAttcttttttttttt	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1728-107A>-	14.37:g.53326539delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	DEL	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.453	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	35	0.00	0	T	NM_006832		53326539	53326539	-1	no_errors	ENST00000557255	ensembl	human	known	69_37n	rna	21	12.50	3	DEL	0.120	-
GAPT	202309	genome.wustl.edu	37	5	57790418	57790418	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:57790418C>G	ENST00000396776.2	+	3	517	c.55C>G	c.(55-57)Ctt>Gtt	p.L19V	GAPT_ENST00000318469.2_Missense_Mutation_p.L19V	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	19					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AATTTCGCTTCTTTTACTCTT	0.413																																						dbGAP											0													97.0	98.0	98.0					5																	57790418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.55C>G	5.37:g.57790418C>G	ENSP00000379997:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GF_rcpt-bound_2-bd_adaptor	p.L19V	ENST00000396776.2	37	c.55	CCDS3975.1	5	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682153	0.29872	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.96	-1.44	0.08856	.	0.638694	0.13606	N	0.375444	T	0.37265	0.0997	L	0.36672	1.1	0.09310	N	1	B	0.31769	0.339	B	0.33690	0.168	T	0.28744	-1.0034	10	0.62326	D	0.03	-34.1178	4.9763	0.14142	0.0:0.3136:0.1622:0.5242	.	19	Q8N292	GAPT_HUMAN	V	19	ENSP00000423113:L19V;ENSP00000379997:L19V;ENSP00000422645:L19V;ENSP00000323075:L19V	ENSP00000323075:L19V	L	+	1	0	GAPT	57826175	0.001000	0.12720	0.001000	0.08648	0.037000	0.13140	-0.140000	0.10342	-0.391000	0.07763	0.591000	0.81541	CTT	GAPT	-	pfam_GF_rcpt-bound_2-bd_adaptor	ENSG00000175857		0.413	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPT	HGNC	protein_coding	OTTHUMT00000253963.1	56	0.00	0	C	NM_152687		57790418	57790418	+1	no_errors	ENST00000318469	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.003	G
GRIA3	2892	genome.wustl.edu	37	X	122528948	122528948	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:122528948G>A	ENST00000371251.1	+	6	932	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GRIA3_ENST00000542149.1_Missense_Mutation_p.E294K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E294K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E278K|GRIA3_ENST00000264357.5_Missense_Mutation_p.E294K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	294					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGATGAAAGGGAATTCCCTGA	0.438																																						dbGAP											0													123.0	115.0	118.0					X																	122528948		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.880G>A	X.37:g.122528948G>A	ENSP00000360297:p.Glu294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E294K	ENST00000371251.1	37	c.880	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415587	0.62511	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	L	0.45581	1.43	0.80722	D	1	P;D;D	0.58620	0.954;0.983;0.979	P;D;D	0.66716	0.667;0.946;0.91	D	0.87066	0.2156	10	0.40728	T	0.16	.	17.1931	0.86886	0.0:0.0:1.0:0.0	.	278;294;294	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	294;294;294;294;278	ENSP00000264357:E294K;ENSP00000446146:E294K;ENSP00000360302:E294K;ENSP00000360297:E294K;ENSP00000446440:E278K	ENSP00000264357:E294K	E	+	1	0	GRIA3	122356629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.358000	0.79984	0.600000	0.82982	GAA	GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	34	0.00	0	G	NM_000828		122528948	122528948	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	A
GRIP1	23426	genome.wustl.edu	37	12	66800072	66800072	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:66800072C>G	ENST00000398016.3	-	15	1887	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H	GRIP1_ENST00000359742.4_Missense_Mutation_p.D659H|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.D659H	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTGAATTATCTTCATCTTTG	0.393																																						dbGAP											0													126.0	115.0	118.0					12																	66800072		1896	4127	6023	-	-	-	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1819G>C	12.37:g.66800072C>G	ENSP00000381098:p.Asp607His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D659H	ENST00000398016.3	37	c.1975	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.245461|4.245461	0.80024|0.80024	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.22743|.	1.94;1.94;1.95;1.96;2.02;2.03|.	5.48|5.48	5.48|5.48	0.80851|0.80851	PDZ/DHR/GLGF (1);|.	0.044111|.	0.85682|.	D|.	0.000000|.	T|T	0.72120|0.72120	0.3421|0.3421	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.63880|.	0.894;0.993;0.597;0.982|.	P;D;P;D|.	0.71656|.	0.733;0.965;0.508;0.974|.	T|T	0.68070|0.68070	-0.5506|-0.5506	9|5	.|.	.|.	.|.	-16.8167|-16.8167	19.7268|19.7268	0.96166|0.96166	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	607;659;607;659|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	H|N	607;659;659;607;551;499|473	ENSP00000381098:D607H;ENSP00000352780:D659H;ENSP00000286445:D659H;ENSP00000446047:D607H;ENSP00000446024:D551H;ENSP00000446011:D499H|.	.|.	D|K	-|-	1|3	0|2	GRIP1|GRIP1	65086339|65086339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.074000|6.074000	0.71253|0.71253	2.739000|2.739000	0.93911|0.93911	0.491000|0.491000	0.48974|0.48974	GAT|AAG	GRIP1	-	superfamily_PDZ	ENSG00000155974		0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	46	0.00	0	C			66800072	66800072	-1	no_errors	ENST00000359742	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	1.000	G
GRIP2	80852	genome.wustl.edu	37	3	14552701	14552701	+	RNA	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:14552701C>T	ENST00000273083.3	-	0	1969							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCCGGATCTTCAGCTTCACCA	0.592																																						dbGAP											0													75.0	79.0	78.0					3																	14552701		2064	4211	6275	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552701C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.592	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	54	0.00	0	C	NM_001080423		14552701	14552701	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	37	24.49	12	SNP	1.000	T
GRM2	2912	genome.wustl.edu	37	3	51746802	51746802	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:51746802G>A	ENST00000395052.3	+	3	998	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R255Q	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	255					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTGTGGTGCGAGCCCTGCTG	0.662																																						dbGAP											0													31.0	31.0	31.0					3																	51746802		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.764G>A	3.37:g.51746802G>A	ENSP00000378492:p.Arg255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R255Q	ENST00000395052.3	37	c.764	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	G	9.445	1.088952	0.20390	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.82619	-1.63;-1.63	5.25	4.37	0.52481	Extracellular ligand-binding receptor (1);	0.065593	0.64402	D	0.000010	T	0.79953	0.4535	L	0.51914	1.62	0.47584	D	0.999464	P	0.51147	0.942	P	0.49276	0.605	T	0.75819	-0.3183	10	0.25751	T	0.34	.	7.1491	0.25599	0.1454:0.1449:0.7097:0.0	.	255	Q14416	GRM2_HUMAN	Q	255	ENSP00000378492:R255Q;ENSP00000408906:R255Q	ENSP00000296479:R255Q	R	+	2	0	GRM2	51721842	1.000000	0.71417	0.993000	0.49108	0.002000	0.02628	4.037000	0.57311	1.357000	0.45904	-0.172000	0.13284	CGA	GRM2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3	ENSG00000164082		0.662	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	18	0.00	0	G			51746802	51746802	+1	no_errors	ENST00000395052	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.996	A
GTF3C5	9328	genome.wustl.edu	37	9	135917590	135917590	+	Silent	SNP	G	G	A	rs371055919		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:135917590G>A	ENST00000372097.5	+	2	593	c.270G>A	c.(268-270)aaG>aaA	p.K90K	GTF3C5_ENST00000342018.8_Silent_p.K90K|GTF3C5_ENST00000372108.5_Silent_p.K90K|GTF3C5_ENST00000372099.6_Silent_p.K81K|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	90					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCATCAGGAAGAGAACGAGGC	0.577																																						dbGAP											0													77.0	80.0	79.0					9																	135917590		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.270G>A	9.37:g.135917590G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	pfam_TF_IIIC_su-5	p.K90	ENST00000372097.5	37	c.270	CCDS6958.1	9																																																																																			GTF3C5	-	pfam_TF_IIIC_su-5	ENSG00000148308		0.577	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	27	0.00	0	G	NM_001122823		135917590	135917590	+1	no_errors	ENST00000372108	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	0.966	A
GUCY2F	2986	genome.wustl.edu	37	X	108684643	108684643	+	Silent	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:108684643G>C	ENST00000218006.2	-	7	1929	c.1638C>G	c.(1636-1638)ctC>ctG	p.L546L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGAAAAGGAGAGTCTTGGGG	0.433													G|||	1	0.000264901	0.0	0.0	3775	,	,		12732	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													180.0	181.0	180.0					X																	108684643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1638C>G	X.37:g.108684643G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L546	ENST00000218006.2	37	c.1638	CCDS14545.1	X																																																																																			GUCY2F	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101890		0.433	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	36	0.00	0	G	NM_001522		108684643	108684643	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	silent	57	14.93	10	SNP	0.284	C
GYPE	2996	genome.wustl.edu	37	4	144801602	144801602	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr4:144801602G>C	ENST00000358615.4	-	2	149	c.98C>G	c.(97-99)tCt>tGt	p.S33C	GYPE_ENST00000437468.2_Missense_Mutation_p.S33C	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	33						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TGTGACTGAAGAAGAGGTTGA	0.373																																						dbGAP											0													191.0	203.0	199.0					4																	144801602		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.98C>G	4.37:g.144801602G>C	ENSP00000351430:p.Ser33Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNZ5	Missense_Mutation	SNP	NULL	p.S33C	ENST00000358615.4	37	c.98	CCDS47138.1	4	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448786	0.26074	.	.	ENSG00000197465	ENST00000358615;ENST00000437468;ENST00000428604	T;T	0.06933	3.24;3.24	1.21	0.302	0.15786	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	D	0.53462	0.96	B	0.37550	0.253	T	0.35624	-0.9781	8	0.72032	D	0.01	4.7997	3.5804	0.07950	0.2761:0.0:0.7239:0.0	.	33	P15421	GLPE_HUMAN	C	33	ENSP00000351430:S33C;ENSP00000400698:S33C	ENSP00000351430:S33C	S	-	2	0	GYPE	145021052	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.669000	0.05262	0.097000	0.17492	0.134000	0.15878	TCT	GYPE	-	NULL	ENSG00000197465		0.373	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYPE	HGNC	protein_coding	OTTHUMT00000364780.1	126	0.00	0	G	NM_002102		144801602	144801602	-1	no_errors	ENST00000358615	ensembl	human	known	69_37n	missense	86	24.56	28	SNP	0.000	C
HERC2	8924	genome.wustl.edu	37	15	28408363	28408363	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:28408363C>T	ENST00000261609.7	-	69	10731	c.10623G>A	c.(10621-10623)ctG>ctA	p.L3541L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCGCAATCAGCAGACTGG	0.547																																						dbGAP											0													127.0	112.0	117.0					15																	28408363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10623G>A	15.37:g.28408363C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.L3541	ENST00000261609.7	37	c.10623	CCDS10021.1	15																																																																																			HERC2	-	NULL	ENSG00000128731		0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	28	0.00	0	C	NM_004667		28408363	28408363	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.965	T
HERC2	8924	genome.wustl.edu	37	15	28474383	28474383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:28474383G>A	ENST00000261609.7	-	34	5338	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAACATTTCGAATGTTCTGT	0.378																																						dbGAP											0													133.0	146.0	142.0					15																	28474383		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5230C>T	15.37:g.28474383G>A	ENSP00000261609:p.Arg1744*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R1744*	ENST00000261609.7	37	c.5230	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	46	12.185232	0.99644	.	.	ENSG00000128731	ENST00000261609	.	.	.	4.27	2.22	0.28083	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9065	0.52715	0.0:0.0:0.5494:0.4506	.	.	.	.	X	1744	.	ENSP00000261609:R1744X	R	-	1	2	HERC2	26147978	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	6.059000	0.71133	0.974000	0.38366	0.555000	0.69702	CGA	HERC2	-	NULL	ENSG00000128731		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	51	0.00	0	G	NM_004667		28474383	28474383	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	nonsense	40	16.67	8	SNP	1.000	A
HIST2H2BE	8349	genome.wustl.edu	37	1	149857969	149857969	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:149857969G>A	ENST00000369155.2	-	1	263	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTCTCCCGCGATGCGCTCGA	0.637																																						dbGAP											0													120.0	111.0	114.0					1																	149857969		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.222C>T	1.37:g.149857969G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000369155.2	37	c.222	CCDS936.1	1																																																																																			HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000184678		0.637	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	62	0.00	0	G	NM_003528		149857969	149857969	-1	no_errors	ENST00000369155	ensembl	human	known	69_37n	silent	74	22.11	21	SNP	1.000	A
HSP90B1	7184	genome.wustl.edu	37	12	104337515	104337515	+	Splice_Site	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:104337515G>C	ENST00000299767.5	+	14	2072		c.e14-1			NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1						actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTTCCCTAAGATTGAAAAGG	0.408																																						dbGAP											0													89.0	84.0	85.0					12																	104337515		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1891-1G>C	12.37:g.104337515G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A97	Splice_Site	SNP	-	e14-1	ENST00000299767.5	37	c.1891-1	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248728	0.80024	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9202	0.97084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSP90B1	102861645	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.322000	0.96357	2.774000	0.95407	0.643000	0.83706	.	HSP90B1	-	-	ENSG00000166598		0.408	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	32	0.00	0	G	NM_003299	Intron	104337515	104337515	+1	no_errors	ENST00000299767	ensembl	human	known	69_37n	splice_site	37	24.49	12	SNP	1.000	C
IGSF10	285313	genome.wustl.edu	37	3	151163473	151163473	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:151163473C>T	ENST00000282466.3	-	4	4295	c.4296G>A	c.(4294-4296)ttG>ttA	p.L1432L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1432					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTGCTCTTCAAAGTCTGAG	0.393																																						dbGAP											0													184.0	172.0	176.0					3																	151163473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4296G>A	3.37:g.151163473C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L1432	ENST00000282466.3	37	c.4296	CCDS3160.1	3																																																																																			IGSF10	-	NULL	ENSG00000152580		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	47	0.00	0	C	NM_178822		151163473	151163473	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	silent	72	14.29	12	SNP	0.001	T
HTR3C	170572	genome.wustl.edu	37	3	183777385	183777385	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:183777385C>G	ENST00000318351.1	+	7	916	c.882C>G	c.(880-882)ctC>ctG	p.L294L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	294					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCTTCCTGCTCATGATGAATG	0.577																																						dbGAP											0													175.0	156.0	162.0					3																	183777385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.882C>G	3.37:g.183777385C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR5	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.L294	ENST00000318351.1	37	c.882	CCDS3250.1	3																																																																																			HTR3C	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000178084		0.577	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	67	0.00	0	C	NM_130770		183777385	183777385	+1	no_errors	ENST00000318351	ensembl	human	known	69_37n	silent	93	13.08	14	SNP	0.992	G
IKZF5	64376	genome.wustl.edu	37	10	124753897	124753897	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:124753897G>C	ENST00000368886.5	-	5	979	c.659C>G	c.(658-660)cCa>cGa	p.P220R	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTGGATATTTGGGATTTCGTG	0.448																																						dbGAP											0													236.0	228.0	230.0					10																	124753897		1967	4147	6114	-	-	-	SO:0001583	missense	0			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.659C>G	10.37:g.124753897G>C	ENSP00000357881:p.Pro220Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P220R	ENST00000368886.5	37	c.659	CCDS41574.1	10	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573246	0.65765	.	.	ENSG00000095574	ENST00000368886	T	0.05319	3.46	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.27053	0.805	0.80722	D	1	P	0.50943	0.94	P	0.46144	0.505	T	0.45056	-0.9287	10	0.12766	T	0.61	-19.0019	20.5373	0.99239	0.0:0.0:1.0:0.0	.	220	Q9H5V7	IKZF5_HUMAN	R	220	ENSP00000357881:P220R	ENSP00000357881:P220R	P	-	2	0	IKZF5	124743887	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	9.415000	0.97375	2.857000	0.98124	0.650000	0.86243	CCA	IKZF5	-	NULL	ENSG00000095574		0.448	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	67	0.00	0	G	NM_022466		124753897	124753897	-1	no_errors	ENST00000368886	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	1.000	C
ITPKB	3707	genome.wustl.edu	37	1	226924709	226924709	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:226924709C>G	ENST00000272117.3	-	1	450	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	ITPKB_ENST00000429204.1_Missense_Mutation_p.E151Q|ITPKB_ENST00000366784.1_Missense_Mutation_p.E151Q			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	151					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATGTGCGCCTCAAACATGCCC	0.667																																					Colon(84;110 1851 5306 33547)	dbGAP											0													81.0	83.0	82.0					1																	226924709		2194	4280	6474	-	-	-	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.451G>C	1.37:g.226924709C>G	ENSP00000272117:p.Glu151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.E151Q	ENST00000272117.3	37	c.451	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400262	0.83120	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.39406	1.08;1.08;1.09	4.28	4.28	0.50868	.	0.000000	0.50627	D	0.000104	T	0.52709	0.1751	L	0.29908	0.895	0.40474	D	0.98037	D	0.89917	1.0	D	0.80764	0.994	T	0.57171	-0.7857	10	0.49607	T	0.09	.	16.8807	0.86062	0.0:1.0:0.0:0.0	.	151	P27987	IP3KB_HUMAN	Q	151	ENSP00000272117:E151Q;ENSP00000411152:E151Q;ENSP00000355748:E151Q	ENSP00000272117:E151Q	E	-	1	0	ITPKB	224991332	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.153000	0.71819	2.182000	0.69389	0.561000	0.74099	GAG	ITPKB	-	NULL	ENSG00000143772		0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	11	0.00	0	C	NM_002221		226924709	226924709	-1	no_errors	ENST00000272117	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	1.000	G
KAT6B	23522	genome.wustl.edu	37	10	76790587	76790587	+	Missense_Mutation	SNP	T	T	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:76790587T>A	ENST00000287239.4	+	18	6494	c.6005T>A	c.(6004-6006)aTg>aAg	p.M2002K	KAT6B_ENST00000372725.1_Missense_Mutation_p.M1710K|KAT6B_ENST00000372714.1_Missense_Mutation_p.M1710K|KAT6B_ENST00000372711.1_Missense_Mutation_p.M1819K|KAT6B_ENST00000372724.1_Missense_Mutation_p.M1710K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	2002	Interaction with RUNX1 and RUNX2.|Met-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGCCAATGATGAACAGTGGC	0.507																																						dbGAP											0													132.0	121.0	125.0					10																	76790587		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.6005T>A	10.37:g.76790587T>A	ENSP00000287239:p.Met2002Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.M2002K	ENST00000287239.4	37	c.6005	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218999	0.39201	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.82255	-1.51;-1.51;-1.59;-1.51;-1.52	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000009	D	0.85754	0.5770	L	0.27053	0.805	0.58432	D	0.999999	P;D;D	0.62365	0.918;0.991;0.991	P;P;D	0.68192	0.884;0.852;0.956	D	0.87775	0.2608	10	0.87932	D	0	-10.1752	16.1659	0.81754	0.0:0.0:0.0:1.0	.	1819;1710;2002	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	1710;1710;2002;1710;1819	ENSP00000361810:M1710K;ENSP00000361809:M1710K;ENSP00000287239:M2002K;ENSP00000361799:M1710K;ENSP00000361796:M1819K	ENSP00000287239:M2002K	M	+	2	0	KAT6B	76460593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.220000	0.72140	0.533000	0.62120	ATG	KAT6B	-	NULL	ENSG00000156650		0.507	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	19	0.00	0	T	NM_012330		76790587	76790587	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44921975	44921975	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:44921975C>G	ENST00000377967.4	+	15	1550	c.1509C>G	c.(1507-1509)gtC>gtG	p.V503V	KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000382899.4_Silent_p.V510V|KDM6A_ENST00000536777.1_Silent_p.V458V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	503	Interaction with SUPT6H. {ECO:0000250}.				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)|p.0(2)		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						GTCAGTTTGTCTTAATGCAAC	0.343			"""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"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											60.0	49.0	52.0					X																	44921975		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.1509C>G	X.37:g.44921975C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L146V	ENST00000377967.4	37	c.436	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902874	0.17760	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.66	3.86	0.44501	.	.	.	.	.	T	0.63046	0.2478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61510	-0.7048	4	.	.	.	-2.0249	12.2089	0.54369	0.0:0.8502:0.0:0.1498	.	.	.	.	V	101;146	.	.	L	+	1	0	KDM6A	44806919	0.979000	0.34478	1.000000	0.80357	0.990000	0.78478	0.279000	0.18771	1.268000	0.44264	0.594000	0.82650	CTT	KDM6A	-	NULL	ENSG00000147050		0.343	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	28	0.00	0	C	NM_021140		44921975	44921975	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433797	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	1.000	G
CEP162	22832	genome.wustl.edu	37	6	84884604	84884604	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr6:84884604C>G	ENST00000403245.3	-	15	1981	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E547Q|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTATCCTCTGCTTCCTGA	0.368																																						dbGAP											0													77.0	67.0	70.0					6																	84884604		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000403245.3:c.1867G>C	6.37:g.84884604C>G	ENSP00000385215:p.Glu623Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E623Q	ENST00000403245.3	37	c.1867	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437811	0.83885	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.20069	2.1;2.1	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	T	0.41949	0.1181	M	0.76574	2.34	0.36534	D	0.870884	D	0.89917	1.0	D	0.87578	0.998	T	0.17776	-1.0358	10	0.44086	T	0.13	-8.5466	19.9685	0.97276	0.0:1.0:0.0:0.0	.	623	Q5TB80	QN1_HUMAN	Q	547;623	ENSP00000257766:E547Q;ENSP00000385215:E623Q	ENSP00000257766:E547Q	E	-	1	0	KIAA1009	84941323	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.292000	0.51772	2.796000	0.96246	0.563000	0.77884	GAG	KIAA1009	-	NULL	ENSG00000135315		0.368	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	51	0.00	0	C			84884604	84884604	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	G
KIAA1549L	25758	genome.wustl.edu	37	11	33564822	33564822	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:33564822G>C	ENST00000321505.4	+	1	1002	c.822G>C	c.(820-822)aaG>aaC	p.K274N	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.K274N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K274N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	274						integral component of membrane (GO:0016021)											TTTTAGGGAAGAATGAAGAGG	0.448											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													126.0	121.0	123.0					11																	33564822		1909	4133	6042	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.822G>C	11.37:g.33564822G>C	ENSP00000315295:p.Lys274Asn	Somatic	841	WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.K274N	ENST00000321505.4	37	c.822	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764933	0.31228	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.54	-1.37	0.09056	.	1.191940	0.05687	N	0.591535	T	0.22898	0.0553	L	0.29908	0.895	0.09310	N	1	P;P	0.37276	0.454;0.589	B;B	0.39027	0.071;0.288	T	0.08249	-1.0731	9	0.21014	T	0.42	2.1188	1.2461	0.01973	0.4045:0.2557:0.2164:0.1234	.	274;274	E9PAT2;Q6ZVL6-2	.;.	N	274;274;274;114	.	ENSP00000265654:K274N	K	+	3	2	C11orf41	33521398	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.171000	0.09883	-0.899000	0.03901	-0.381000	0.06696	AAG	KIAA1549L	-	NULL	ENSG00000110427		0.448	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	24	0.00	0	G	NM_012194		33564822	33564822	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.000	C
KIDINS220	57498	genome.wustl.edu	37	2	8933973	8933973	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:8933973G>T	ENST00000256707.3	-	12	1424	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q415K|KIDINS220_ENST00000319688.5_Missense_Mutation_p.Q416K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Q373K|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q415K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	415					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACTCTTCTGATGGCTACAG	0.358																																						dbGAP											0													63.0	58.0	59.0					2																	8933973		1813	4075	5888	-	-	-	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1243C>A	2.37:g.8933973G>T	ENSP00000256707:p.Gln415Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q415K	ENST00000256707.3	37	c.1243	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	g	19.24	3.788982	0.70337	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.67698	0.87;-0.28;-0.25;-0.16;-0.25;-0.22;-0.19	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	L	0.38175	1.15	0.80722	D	1	B;D;D;D	0.69078	0.189;0.993;0.997;0.991	B;D;D;D	0.79108	0.039;0.926;0.992;0.983	T	0.73990	-0.3808	10	0.41790	T	0.15	.	20.2272	0.98342	0.0:0.0:1.0:0.0	.	416;416;373;415	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	K	162;99;415;415;373;415;416;416	ENSP00000420364:Q162K;ENSP00000256707:Q415K;ENSP00000411849:Q415K;ENSP00000414923:Q373K;ENSP00000418974:Q415K;ENSP00000419964:Q416K;ENSP00000319947:Q416K	ENSP00000256707:Q415K	Q	-	1	0	KIDINS220	8851424	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.400000	0.97290	2.785000	0.95823	0.645000	0.84053	CAG	KIDINS220	-	NULL	ENSG00000134313		0.358	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	42	0.00	0	G	NM_020738		8933973	8933973	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	1.000	T
KIF21A	55605	genome.wustl.edu	37	12	39716479	39716479	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:39716479A>G	ENST00000361418.5	-	27	3677	c.3662T>C	c.(3661-3663)aTa>aCa	p.I1221T	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000544797.2_Missense_Mutation_p.I1201T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I1185T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I1208T|KIF21A_ENST00000395670.3_Missense_Mutation_p.I1221T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1221					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATGCTGCCTATCTTAGAAGG	0.388																																						dbGAP											0													107.0	99.0	102.0					12																	39716479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3662T>C	12.37:g.39716479A>G	ENSP00000354878:p.Ile1221Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1221T	ENST00000361418.5	37	c.3662	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.69|11.69	1.714571|1.714571	0.30413|0.30413	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.69561|.	-0.41;-0.37;0.38;-0.41;-0.32;-0.38|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|.	0.39358|.	0.1075|.	L|L	0.31294|0.31294	0.92|0.92	0.33209|0.33209	D|D	0.553172|0.553172	P;B;B;B;B;B|.	0.37276|.	0.589;0.001;0.0;0.001;0.001;0.002|.	B;B;B;B;B;B|.	0.35770|.	0.21;0.003;0.001;0.004;0.004;0.004|.	T|.	0.51616|.	-0.8683|.	10|.	0.14252|.	T|.	0.57|.	.|.	7.8229|7.8229	0.29298|0.29298	0.845:0.0:0.155:0.0|0.845:0.0:0.155:0.0	.|.	1201;1185;1221;1208;1221;268|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	T|Q	1208;1221;1221;268;262;1201;1221;1185|569	ENSP00000354851:I1208T;ENSP00000379029:I1221T;ENSP00000448792:I262T;ENSP00000445606:I1201T;ENSP00000354878:I1221T;ENSP00000438075:I1185T|.	ENSP00000344501:I1221T|.	I|X	-|-	2|1	0|0	KIF21A|KIF21A	38002746|38002746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.221000|3.221000	0.51215|0.51215	1.977000|1.977000	0.57605|0.57605	0.533000|0.533000	0.62120|0.62120	ATA|TAG	KIF21A	-	NULL	ENSG00000139116		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	25	0.00	0	A	NM_017641		39716479	39716479	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	G
KIF21B	23046	genome.wustl.edu	37	1	200974018	200974018	+	Missense_Mutation	SNP	G	G	C	rs141814113		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:200974018G>C	ENST00000422435.2	-	6	1092	c.776C>G	c.(775-777)tCg>tGg	p.S259W	KIF21B_ENST00000332129.2_Missense_Mutation_p.S259W|KIF21B_ENST00000461742.2_Missense_Mutation_p.S259W|KIF21B_ENST00000360529.5_Missense_Mutation_p.S259W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	259	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATACTCACTCGAGGGAGGTGT	0.612																																						dbGAP											0													84.0	71.0	75.0					1																	200974018		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.776C>G	1.37:g.200974018G>C	ENSP00000411831:p.Ser259Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S259W	ENST00000422435.2	37	c.776	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.285719	0.59867	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.62	4.65	0.58169	Kinesin, motor domain (4);	0.650355	0.15370	N	0.265918	T	0.71651	0.3365	N	0.25890	0.77	0.09310	N	0.999999	D;P;P;P	0.56968	0.978;0.924;0.877;0.907	P;P;P;P	0.51385	0.668;0.668;0.555;0.539	T	0.65940	-0.6046	10	0.66056	D	0.02	.	14.3711	0.66840	0.0:0.1475:0.8525:0.0	.	259;259;259;259	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	259	ENSP00000328494:S259W;ENSP00000353724:S259W;ENSP00000433808:S259W;ENSP00000411831:S259W	ENSP00000328494:S259W	S	-	2	0	KIF21B	199240641	0.052000	0.20516	0.012000	0.15200	0.057000	0.15508	2.617000	0.46385	2.643000	0.89663	0.586000	0.80456	TCG	KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000116852		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	28	0.00	0	G	XM_371332		200974018	200974018	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.045	C
KLK8	11202	genome.wustl.edu	37	19	51499359	51499359	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:51499359G>A	ENST00000600767.1	-	7	1228	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	KLK8_ENST00000391806.2_Missense_Mutation_p.R292C|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.R106C|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.R247C			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCAGGTAGCGGCAGATGTTG	0.537																																						dbGAP											0													194.0	180.0	185.0					19																	51499359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.739C>T	19.37:g.51499359G>A	ENSP00000472016:p.Arg247Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R292C	ENST00000600767.1	37	c.874	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528775	0.64860	.	.	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.89270	-2.49;-2.49;-2.49	4.66	4.66	0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44097	D	0.000494	D	0.91503	0.7317	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;P	0.63703	0.917;0.885;0.886	D	0.91479	0.5203	10	0.72032	D	0.01	.	10.4789	0.44680	0.0:0.0:0.8062:0.1938	.	106;247;292	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	C	292;247;106	ENSP00000375682:R292C;ENSP00000291726:R247C;ENSP00000341555:R106C	ENSP00000291726:R247C	R	-	1	0	KLK8	56191171	0.299000	0.24426	1.000000	0.80357	0.974000	0.67602	0.185000	0.16958	2.569000	0.86673	0.563000	0.77884	CGC	KLK8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000129455		0.537	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	35	0.00	0	G	NM_007196		51499359	51499359	-1	no_errors	ENST00000391806	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	1.000	A
KRT84	3890	genome.wustl.edu	37	12	52775231	52775231	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:52775231C>G	ENST00000257951.3	-	5	1057	c.991G>C	c.(991-993)Gat>Cat	p.D331H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	331	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGATCCCATCAAGGTTCAGG	0.577																																						dbGAP											0													193.0	174.0	180.0					12																	52775231		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.991G>C	12.37:g.52775231C>G	ENSP00000257951:p.Asp331His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.D331H	ENST00000257951.3	37	c.991	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398521	0.62177	.	.	ENSG00000161849	ENST00000257951	T	0.79554	-1.28	4.88	2.97	0.34412	Filament (1);	0.264432	0.27016	N	0.021347	D	0.87525	0.6199	M	0.77712	2.385	0.43857	D	0.996457	D	0.76494	0.999	D	0.72982	0.979	D	0.86619	0.1878	10	0.72032	D	0.01	.	9.3841	0.38331	0.0:0.819:0.0:0.181	.	331	Q9NSB2	KRT84_HUMAN	H	331	ENSP00000257951:D331H	ENSP00000257951:D331H	D	-	1	0	KRT84	51061498	0.044000	0.20184	0.012000	0.15200	0.710000	0.40934	0.995000	0.29706	0.607000	0.29982	0.563000	0.77884	GAT	KRT84	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I	ENSG00000161849		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	39	0.00	0	C	NM_033045		52775231	52775231	-1	no_errors	ENST00000257951	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	0.995	G
LGALS1	3956	genome.wustl.edu	37	22	38075655	38075655	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr22:38075655G>T	ENST00000215909.5	+	4	402	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	103	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAAGCTGCCAGATGGATACGA	0.567																																					Pancreas(23;406 890 14304 26016)	dbGAP											0													132.0	96.0	108.0					22																	38075655		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.307G>T	22.37:g.38075655G>T	ENSP00000215909:p.Asp103Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5E8|Q9UDK5	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.D103Y	ENST00000215909.5	37	c.307	CCDS13954.1	22	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747235	0.69418	.	.	ENSG00000100097	ENST00000215909	T	0.06142	3.34	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.047005	0.85682	D	0.000000	T	0.31918	0.0812	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02126	-1.1209	10	0.72032	D	0.01	-4.5223	18.1573	0.89696	0.0:0.0:1.0:0.0	.	103	P09382	LEG1_HUMAN	Y	103	ENSP00000215909:D103Y	ENSP00000215909:D103Y	D	+	1	0	LGALS1	36405601	0.949000	0.32298	0.210000	0.23637	0.332000	0.28634	2.798000	0.47884	2.894000	0.99253	0.655000	0.94253	GAT	LGALS1	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000100097		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS1	HGNC	protein_coding	OTTHUMT00000319482.1	13	0.00	0	G	NM_002305		38075655	38075655	+1	no_errors	ENST00000215909	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.997	T
MAN2B1	4125	genome.wustl.edu	37	19	12760743	12760743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:12760743C>A	ENST00000456935.2	-	18	2291	c.2251G>T	c.(2251-2253)Gag>Tag	p.E751*	MAN2B1_ENST00000221363.4_Nonsense_Mutation_p.E750*|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	751					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCAGGATCTCCCGGCCATTG	0.587																																						dbGAP											0													167.0	151.0	157.0					19																	12760743		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2251G>T	19.37:g.12760743C>A	ENSP00000395473:p.Glu751*	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Nonsense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.E751*	ENST00000456935.2	37	c.2251	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.067443	0.93898	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	.	.	.	5.13	5.13	0.70059	.	0.279818	0.25804	N	0.028196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-53.5695	11.7497	0.51841	0.0:0.8227:0.1773:0.0	.	.	.	.	X	751;690;750	.	ENSP00000221363:E750X	E	-	1	0	MAN2B1	12621743	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.221000	0.58574	2.682000	0.91365	0.555000	0.69702	GAG	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000104774		0.587	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	61	0.00	0	C			12760743	12760743	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	nonsense	40	37.50	24	SNP	1.000	A
MLANA	2315	genome.wustl.edu	37	9	5897575	5897575	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:5897575C>T	ENST00000381477.3	+	3	256	c.96C>T	c.(94-96)atC>atT	p.I32I	MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381476.1_Silent_p.I32I|KIAA2026_ENST00000443149.2_5'Flank|MLANA_ENST00000381471.1_Silent_p.I32I	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	32						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		GGATCGGCATCCTGACAGTGA	0.458																																						dbGAP											0													164.0	151.0	155.0					9																	5897575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.96C>T	9.37:g.5897575C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ICU4	Silent	SNP	NULL	p.I32	ENST00000381477.3	37	c.96	CCDS6466.1	9																																																																																			MLANA	-	NULL	ENSG00000120215		0.458	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLANA	HGNC	protein_coding	OTTHUMT00000051643.1	51	0.00	0	C			5897575	5897575	+1	no_errors	ENST00000381471	ensembl	human	known	69_37n	silent	32	30.43	14	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151960110	151960110	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:151960110C>G	ENST00000262189.6	-	9	1508	c.1290G>C	c.(1288-1290)tgG>tgC	p.W430C	KMT2C_ENST00000355193.2_Missense_Mutation_p.W430C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	430					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W430C(2)									CTTTGCATTTCCAGCCATTGG	0.348																																						dbGAP											2	Substitution - Missense(2)	lung(2)											78.0	71.0	74.0					7																	151960110		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1290G>C	7.37:g.151960110C>G	ENSP00000262189:p.Trp430Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.W430C	ENST00000262189.6	37	c.1290	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794674	0.50102	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.94280	-3.39;-3.39	4.65	4.65	0.58169	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42682	D	0.000662	D	0.98340	0.9449	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	.	17.923	0.88973	0.0:1.0:0.0:0.0	.	430	Q8NEZ4	MLL3_HUMAN	C	430	ENSP00000262189:W430C;ENSP00000347325:W430C	ENSP00000262189:W430C	W	-	3	0	MLL3	151591043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.670000	0.83925	2.300000	0.77407	0.557000	0.71058	TGG	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	40	0.00	0	C			151960110	151960110	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	48	10.91	6	SNP	1.000	G
MYB	4602	genome.wustl.edu	37	6	135511005	135511007	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr6:135511005_135511007delAAG	ENST00000367814.4	+	4	476_478	c.290_292delAAG	c.(289-294)aaagaa>aaa	p.E99del	MYB_ENST00000534044.1_In_Frame_Del_p.E99del|MYB_ENST00000527615.1_In_Frame_Del_p.E99del|MYB_ENST00000534121.1_In_Frame_Del_p.E99del|MYB_ENST00000316528.8_In_Frame_Del_p.E99del|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000420123.2_In_Frame_Del_p.E75del|MYB_ENST00000528774.1_In_Frame_Del_p.E99del|MYB_ENST00000525369.1_In_Frame_Del_p.E99del|MYB_ENST00000533624.1_In_Frame_Del_p.E99del|MYB_ENST00000442647.2_In_Frame_Del_p.E99del|MYB_ENST00000341911.5_In_Frame_Del_p.E99del	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	99	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCTTGGACCAAAGAAGAAGATCA	0.399			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.290_292delAAG	6.37:g.135511011_135511013delAAG	ENSP00000356788:p.Glu99del	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	In_Frame_Del	DEL	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E99in_frame_del	ENST00000367814.4	37	c.290_292	CCDS5174.1	6																																																																																			MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.399	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	26	0.00	0	AAG			135511005	135511007	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	in_frame_del	27	17.65	6	DEL	1.000:1.000:1.000	-
NCAM1	4684	genome.wustl.edu	37	11	113076802	113076802	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:113076802C>T	ENST00000533760.1	+	5	773	c.174C>T	c.(172-174)atC>atT	p.I58I	NCAM1_ENST00000316851.7_Silent_p.I166I|NCAM1_ENST00000401611.2_Silent_p.I175I|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	176	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACCTGCAGATCCGGGGCATCA	0.507																																						dbGAP											0													132.0	133.0	133.0					11																	113076802		1991	4156	6147	-	-	-	SO:0001819	synonymous_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.174C>T	11.37:g.113076802C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I166	ENST00000533760.1	37	c.498		11																																																																																			NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149294		0.507	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	34	0.00	0	C	NM_000615		113076802	113076802	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	1.000	T
NFE2L1	4779	genome.wustl.edu	37	17	46136365	46136365	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:46136365C>G	ENST00000362042.3	+	6	2297	c.1681C>G	c.(1681-1683)Cag>Gag	p.Q561E	NFE2L1_ENST00000582155.1_Missense_Mutation_p.Q373E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.Q362E|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_Missense_Mutation_p.Q531E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.Q531E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.Q405E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.Q550E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	561					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGATCCAGCTCAGCTCTCATG	0.607																																						dbGAP											0													73.0	61.0	65.0					17																	46136365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1681C>G	17.37:g.46136365C>G	ENSP00000354855:p.Gln561Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.Q561E	ENST00000362042.3	37	c.1681	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773910	0.49786	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.08807	3.05;3.05	5.57	5.57	0.84162	.	0.116022	0.64402	D	0.000008	T	0.10551	0.0258	L	0.48642	1.525	0.80722	D	1	P;B;B;B	0.36837	0.571;0.293;0.287;0.267	B;B;B;B	0.35770	0.21;0.073;0.116;0.11	T	0.18366	-1.0339	10	0.23891	T	0.37	-31.4903	18.3254	0.90252	0.0:1.0:0.0:0.0	.	405;373;531;561	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	E	580;561;531;405	ENSP00000350072:Q531E;ENSP00000445811:Q405E	ENSP00000350072:Q531E	Q	+	1	0	NFE2L1	43491364	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	4.795000	0.62489	2.633000	0.89246	0.563000	0.77884	CAG	NFE2L1	-	NULL	ENSG00000082641		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	15	0.00	0	C	NM_003204		46136365	46136365	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	missense	13	53.57	15	SNP	1.000	G
NIPA1	123606	genome.wustl.edu	37	15	23052645	23052645	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr15:23052645G>A	ENST00000337435.4	-	4	452	c.428C>T	c.(427-429)tCt>tTt	p.S143F	NIPA1_ENST00000437912.2_Missense_Mutation_p.S68F|NIPA1_ENST00000561183.1_Missense_Mutation_p.S68F|NIPA1_ENST00000538684.1_5'UTR	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	143					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CACACTCTCAGACTTTGGGGA	0.512																																						dbGAP											0													146.0	137.0	141.0					15																	23052645		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.428C>T	15.37:g.23052645G>A	ENSP00000337452:p.Ser143Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	pfam_Mg_trans_NIPA	p.S143F	ENST00000337435.4	37	c.428	CCDS10011.1	15	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759881	0.89932	.	.	ENSG00000170113	ENST00000337435;ENST00000437912	D;D	0.90261	-2.64;-2.64	4.78	4.78	0.61160	.	0.235104	0.44902	D	0.000417	D	0.94169	0.8129	M	0.62723	1.935	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	D	0.94766	0.7940	10	0.87932	D	0	-1.3587	18.0109	0.89222	0.0:0.0:1.0:0.0	.	143	Q7RTP0	NIPA1_HUMAN	F	143;68	ENSP00000337452:S143F;ENSP00000393962:S68F	ENSP00000337452:S143F	S	-	2	0	NIPA1	20604086	1.000000	0.71417	0.909000	0.35828	0.876000	0.50452	7.378000	0.79679	2.510000	0.84645	0.555000	0.69702	TCT	NIPA1	-	pfam_Mg_trans_NIPA	ENSG00000170113		0.512	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA1	HGNC	protein_coding	OTTHUMT00000251135.2	31	0.00	0	G	NM_144599		23052645	23052645	-1	no_errors	ENST00000337435	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
NRIP1	8204	genome.wustl.edu	37	21	16340055	16340055	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr21:16340055G>C	ENST00000400202.1	-	3	1171	c.459C>G	c.(457-459)atC>atG	p.I153M	NRIP1_ENST00000400199.1_Missense_Mutation_p.I153M|NRIP1_ENST00000318948.4_Missense_Mutation_p.I153M			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	153	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGCTCTGCCTGATTTGTTGTG	0.443																																						dbGAP											0													69.0	64.0	66.0					21																	16340055		2203	4300	6503	-	-	-	SO:0001583	missense	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.459C>G	21.37:g.16340055G>C	ENSP00000383063:p.Ile153Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWE8	Missense_Mutation	SNP	NULL	p.I153M	ENST00000400202.1	37	c.459	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	14.89	2.668974	0.47677	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.11385	2.78;2.78;2.78	6.01	-0.493	0.12038	.	0.363775	0.28859	N	0.013915	T	0.20941	0.0504	L	0.53249	1.67	0.38343	D	0.944115	D	0.67145	0.996	P	0.62740	0.906	T	0.01925	-1.1246	10	0.66056	D	0.02	-29.1893	10.6454	0.45617	0.6908:0.0:0.3092:0.0	.	153	P48552	NRIP1_HUMAN	M	153	ENSP00000383060:I153M;ENSP00000383063:I153M;ENSP00000327213:I153M	ENSP00000327213:I153M	I	-	3	3	NRIP1	15261926	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.649000	0.37281	-0.055000	0.13244	-0.385000	0.06624	ATC	NRIP1	-	NULL	ENSG00000180530		0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	29	0.00	0	G	NM_003489		16340055	16340055	-1	no_errors	ENST00000318948	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	C
NXF1	10482	genome.wustl.edu	37	11	62564681	62564681	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:62564681C>G	ENST00000532297.1	-	14	1781	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	NXF1_ENST00000533048.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.K384N|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	384					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCAGACTCTTCAAGTTTT	0.498																																						dbGAP											0													65.0	59.0	61.0					11																	62564681		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1152G>C	11.37:g.62564681C>G	ENSP00000436679:p.Lys384Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.K384N	ENST00000532297.1	37	c.1152	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027459	0.75390	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.64438	-0.1;-0.1;-0.1	5.42	4.51	0.55191	.	0.048591	0.85682	D	0.000000	T	0.73426	0.3585	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.66847	0.771;0.947	T	0.71978	-0.4429	10	0.33141	T	0.24	-25.9207	8.3678	0.32397	0.0:0.8232:0.0:0.1768	.	427;384	E9PIN3;Q9UBU9	.;NXF1_HUMAN	N	384;384;427	ENSP00000294172:K384N;ENSP00000436679:K384N;ENSP00000435742:K427N	ENSP00000294172:K384N	K	-	3	2	NXF1	62321257	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.593000	0.36686	1.317000	0.45149	0.555000	0.69702	AAG	NXF1	-	NULL	ENSG00000162231		0.498	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	28	0.00	0	C	NM_006362		62564681	62564681	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	G
OBSL1	23363	genome.wustl.edu	37	2	220430106	220430106	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:220430106C>A	ENST00000404537.1	-	6	2321	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N	OBSL1_ENST00000289656.3_Missense_Mutation_p.K342N|OBSL1_ENST00000603926.1_Missense_Mutation_p.K755N|OBSL1_ENST00000373873.4_Missense_Mutation_p.K755N|OBSL1_ENST00000265318.4_Missense_Mutation_p.K755N|OBSL1_ENST00000373876.1_Missense_Mutation_p.K755N	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	755	Ig-like 5.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCTCCACCTTCTGCCCAT	0.577											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													129.0	133.0	131.0					2																	220430106		2146	4241	6387	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2265G>T	2.37:g.220430106C>A	ENSP00000385636:p.Lys755Asn	Somatic	2266	WXS	Illumina GAIIx	Phase_IV	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K755N	ENST00000404537.1	37	c.2265	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069371	0.55539	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.95	3.77	0.43336	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59595	0.2205	L	0.39514	1.22	0.27370	N	0.955706	B;B;B;B	0.26318	0.146;0.146;0.055;0.016	B;B;B;B	0.32211	0.142;0.142;0.055;0.062	T	0.52094	-0.8621	9	0.38643	T	0.18	.	11.3493	0.49579	0.0:0.8186:0.0:0.1814	.	756;755;342;755	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	N	755;755;755;755;342	ENSP00000265318:K755N;ENSP00000385636:K755N;ENSP00000362983:K755N;ENSP00000362980:K755N;ENSP00000289656:K342N	ENSP00000265318:K755N	K	-	3	2	OBSL1	220138350	0.220000	0.23631	0.998000	0.56505	0.989000	0.77384	0.744000	0.26245	0.599000	0.29845	0.655000	0.94253	AAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.577	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	61	0.00	0	C			220430106	220430106	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	1.000	A
OCSTAMP	128506	genome.wustl.edu	37	20	45170399	45170399	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr20:45170399C>T	ENST00000279028.2	-	3	1228	c.1215G>A	c.(1213-1215)gcG>gcA	p.A405A		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	405					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						GCAGGGCCCCCGCGGCCAGCG	0.741																																						dbGAP											0													3.0	5.0	4.0					20																	45170399		638	1491	2129	-	-	-	SO:0001819	synonymous_variant	0			AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.1215G>A	20.37:g.45170399C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DC_STAMP-like	p.A405	ENST00000279028.2	37	c.1215	CCDS54468.1	20																																																																																			OCSTAMP	-	pfam_DC_STAMP-like	ENSG00000149635		0.741	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCSTAMP	HGNC	protein_coding	OTTHUMT00000079573.2	12	0.00	0	C	XM_496476		45170399	45170399	-1	no_errors	ENST00000279028	ensembl	human	known	69_37n	silent	5	58.33	7	SNP	0.004	T
TENM2	57451	genome.wustl.edu	37	5	167675132	167675132	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:167675132G>A	ENST00000518659.1	+	27	7227	c.7188G>A	c.(7186-7188)gaG>gaA	p.E2396E	TENM2_ENST00000403607.2_Silent_p.E2220E|TENM2_ENST00000519204.1_Silent_p.E2275E|TENM2_ENST00000545108.1_Silent_p.E2395E|TENM2_ENST00000520394.1_Silent_p.E2157E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2396					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCTATGGGGAGATTTATTATG	0.517																																						dbGAP											0													154.0	154.0	154.0					5																	167675132		1985	4161	6146	-	-	-	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7188G>A	5.37:g.167675132G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2396	ENST00000518659.1	37	c.7188		5																																																																																			ODZ2	-	tigrfam_Rhs_assc_core	ENSG00000145934		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	25	0.00	0	G	NM_001122679		167675132	167675132	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	1.000	A
OR1S1	219959	genome.wustl.edu	37	11	57982600	57982600	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:57982600G>A	ENST00000309433.6	+	1	384	c.384G>A	c.(382-384)ttG>ttA	p.L128L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATTTGCTCTTGGGGACCATGG	0.443																																						dbGAP											0													182.0	172.0	176.0					11																	57982600		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.384G>A	11.37:g.57982600G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFG3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L128	ENST00000309433.6	37	c.384	CCDS31546.1	11																																																																																			OR1S1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000172774		0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	79	0.00	0	G	NM_001004458		57982600	57982600	+1	no_errors	ENST00000309433	ensembl	human	known	69_37n	silent	64	21.95	18	SNP	0.012	A
OR6K3	391114	genome.wustl.edu	37	1	158687142	158687142	+	Nonsense_Mutation	SNP	G	G	C	rs79482939		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:158687142G>C	ENST00000368146.1	-	1	811	c.812C>G	c.(811-813)tCa>tGa	p.S271*	OR6K3_ENST00000368145.1_Nonsense_Mutation_p.S255*			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTACATGAGTGATACACTGCC	0.453																																						dbGAP											0													145.0	125.0	131.0					1																	158687142		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.812C>G	1.37:g.158687142G>C	ENSP00000357128:p.Ser271*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUV0|Q6IFR5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S271*	ENST00000368146.1	37	c.812		1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959917	0.34565	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	.	.	.	3.77	-0.835	0.10775	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	1.845	0.03158	0.1806:0.2808:0.3883:0.1503	.	.	.	.	X	255;271	.	ENSP00000357127:S255X	S	-	2	0	OR6K3	156953766	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.112000	0.10791	-0.263000	0.09378	0.467000	0.42956	TCA	OR6K3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000203757		0.453	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		35	0.00	0	G			158687142	158687142	-1	no_errors	ENST00000368146	ensembl	human	known	69_37n	nonsense	33	38.89	21	SNP	0.000	C
OXTR	5021	genome.wustl.edu	37	3	8794699	8794699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:8794699delG	ENST00000316793.3	-	4	1758	c.1134delC	c.(1132-1134)tccfs	p.S379fs	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	379					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TCCTCTGGCTGGAGCTGCGAT	0.637																																						dbGAP											0													46.0	39.0	42.0					3																	8794699		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.1134delC	3.37:g.8794699delG	ENSP00000324270:p.Ser379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15071	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn	p.S379fs	ENST00000316793.3	37	c.1134	CCDS2570.1	3																																																																																			OXTR	-	prints_Oxytocn_rcpt	ENSG00000180914		0.637	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	19	0.00	0	G			8794699	8794699	-1	no_errors	ENST00000316793	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.998	-
PARP4	143	genome.wustl.edu	37	13	25021263	25021263	+	Missense_Mutation	SNP	T	T	C	rs77269056		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr13:25021263T>C	ENST00000381989.3	-	26	3281	c.3176A>G	c.(3175-3177)cAg>cGg	p.Q1059R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1059					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATTGAGTTGCTGCCATTTGAC	0.483																																						dbGAP											0													68.0	64.0	66.0					13																	25021263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3176A>G	13.37:g.25021263T>C	ENSP00000371419:p.Gln1059Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.Q1059R	ENST00000381989.3	37	c.3176	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738796	0.49045	.	.	ENSG00000102699	ENST00000381989	T	0.01918	4.56	4.71	4.71	0.59529	.	0.121088	0.56097	D	0.000023	T	0.08582	0.0213	M	0.76328	2.33	0.38495	D	0.948071	D	0.69078	0.997	P	0.60789	0.879	T	0.01053	-1.1467	10	0.87932	D	0	-17.7634	7.9397	0.29950	0.1828:0.0:0.0:0.8172	.	1059	Q9UKK3	PARP4_HUMAN	R	1059	ENSP00000371419:Q1059R	ENSP00000371419:Q1059R	Q	-	2	0	PARP4	23919263	1.000000	0.71417	0.999000	0.59377	0.339000	0.28857	4.391000	0.59652	2.113000	0.64589	0.524000	0.50904	CAG	PARP4	-	NULL	ENSG00000102699		0.483	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	29	0.00	0	T	NM_006437		25021263	25021263	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	C
PDE2A	5138	genome.wustl.edu	37	11	72295773	72295773	+	Splice_Site	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:72295773C>T	ENST00000334456.5	-	18	1605		c.e18-1		PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000544570.1_Splice_Site|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Splice_Site|PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TCTCATAGCTCTGCCGGAGCA	0.642																																						dbGAP											0													46.0	50.0	49.0					11																	72295773		2200	4292	6492	-	-	-	SO:0001630	splice_region_variant	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1360-1G>A	11.37:g.72295773C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	-	e18-1	ENST00000334456.5	37	c.1360-1	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056773	0.76074	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0034	0.86386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE2A	71973421	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.548000	0.73896	2.579000	0.87056	0.561000	0.74099	.	PDE2A	-	-	ENSG00000186642		0.642	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	39	0.00	0	C	NM_002599	Intron	72295773	72295773	-1	no_errors	ENST00000334456	ensembl	human	known	69_37n	splice_site	41	12.77	6	SNP	1.000	T
PER3	8863	genome.wustl.edu	37	1	7886690	7886690	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:7886690G>A	ENST00000361923.2	+	16	2259	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	PER3_ENST00000377532.3_Missense_Mutation_p.R703Q|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	695	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R695Q(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATAAATTCCGAGAAAAGATC	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											65.0	59.0	61.0					1																	7886690		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2084G>A	1.37:g.7886690G>A	ENSP00000355031:p.Arg695Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.R695Q	ENST00000361923.2	37	c.2084	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759552	0.69763	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14391	2.51;2.57	4.76	0.728	0.18260	.	0.207171	0.42294	D	0.000733	T	0.21103	0.0508	L	0.52364	1.645	0.37954	D	0.932762	D;D;D;D	0.76494	0.988;0.998;0.999;0.988	P;P;D;P	0.63597	0.575;0.826;0.916;0.575	T	0.08576	-1.0715	10	0.72032	D	0.01	.	3.4266	0.07413	0.1513:0.1354:0.573:0.1403	.	695;703;703;695	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	Q	703;695	ENSP00000366755:R703Q;ENSP00000355031:R695Q	ENSP00000355031:R695Q	R	+	2	0	PER3	7809277	0.416000	0.25424	0.008000	0.14137	0.625000	0.37756	0.465000	0.22004	-0.013000	0.14199	-0.140000	0.14226	CGA	PER3	-	NULL	ENSG00000049246		0.423	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	22	0.00	0	G	NM_016831		7886690	7886690	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.849	A
PHRF1	57661	genome.wustl.edu	37	11	608991	608991	+	Missense_Mutation	SNP	C	C	T	rs555964793		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:608991C>T	ENST00000264555.5	+	14	3663	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1178W|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1177W|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1175W	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1179	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGGCGGCCTCGGTCCCGTGA	0.706																																						dbGAP											0													8.0	11.0	10.0					11																	608991		2110	4191	6301	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3535C>T	11.37:g.608991C>T	ENSP00000264555:p.Arg1179Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R1179W	ENST00000264555.5	37	c.3535		11	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011217	0.35511	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.19	0.326	0.15908	.	1.220690	0.06244	N	0.690867	T	0.30854	0.0778	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	P;P;P;P	0.62298	0.798;0.9;0.9;0.798	T	0.39742	-0.9599	10	0.87932	D	0	-2.5117	9.6647	0.39977	0.4159:0.5069:0.0:0.0772	.	1175;1177;1178;1179	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	W	1179;1177;1178;1175	ENSP00000264555:R1179W;ENSP00000388589:R1177W;ENSP00000410626:R1178W;ENSP00000431870:R1175W	ENSP00000264555:R1179W	R	+	1	2	PHRF1	598991	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.457000	0.21875	0.167000	0.19631	0.462000	0.41574	CGG	PHRF1	-	NULL	ENSG00000070047		0.706	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	8	0.00	0	C	NM_020901		608991	608991	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	46	0.00	0	G			178938934	178938934	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	32	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	1.000	G
PIK3IP1	113791	genome.wustl.edu	37	22	31679123	31679123	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr22:31679123G>A	ENST00000215912.5	-	6	922	c.739C>T	c.(739-741)Cct>Tct	p.P247S	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.P168S	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	247					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						CCCTCCTGAGGGTCAACTGGA	0.637																																						dbGAP											0													70.0	51.0	58.0					22																	31679123		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.739C>T	22.37:g.31679123G>A	ENSP00000215912:p.Pro247Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	p.P247S	ENST00000215912.5	37	c.739	CCDS13893.1	22	.	.	.	.	.	.	.	.	.	.	G	1.096	-0.662523	0.03454	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000487265	T;T	0.46451	0.87;0.87	5.52	-1.2	0.09554	.	0.787587	0.11823	N	0.525961	T	0.16642	0.0400	N	0.08118	0	0.35889	D	0.829514	B;B	0.19817	0.039;0.013	B;B	0.18871	0.023;0.006	T	0.27088	-1.0084	10	0.15952	T	0.53	-0.4616	3.7972	0.08744	0.0803:0.3948:0.2117:0.3132	.	168;247	D1MEI0;Q96FE7	.;P3IP1_HUMAN	S	247;225;168	ENSP00000215912:P247S;ENSP00000441361:P168S	ENSP00000215912:P247S	P	-	1	0	PIK3IP1	30009123	0.000000	0.05858	0.039000	0.18376	0.286000	0.27126	0.452000	0.21795	0.268000	0.21939	-0.314000	0.08810	CCT	PIK3IP1	-	NULL	ENSG00000100100		0.637	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3IP1	HGNC	protein_coding	OTTHUMT00000321939.1	21	0.00	0	G	NM_052880		31679123	31679123	-1	no_errors	ENST00000215912	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.565	A
PLCG1	5335	genome.wustl.edu	37	20	39791131	39791131	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr20:39791131C>T	ENST00000373271.1	+	5	957	c.552C>T	c.(550-552)gtC>gtT	p.V184V	PLCG1_ENST00000373272.2_Silent_p.V184V|PLCG1_ENST00000244007.3_Silent_p.V184V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	184	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGTCCCAGGTCAACTACCGGG	0.577																																						dbGAP											0													99.0	84.0	89.0					20																	39791131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.552C>T	20.37:g.39791131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.V184	ENST00000373271.1	37	c.552	CCDS13314.1	20																																																																																			PLCG1	-	pirsf_PLC-gamma,pfscan_EF_HAND_2	ENSG00000124181		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	28	0.00	0	C	NM_182811		39791131	39791131	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	silent	26	35.00	14	SNP	1.000	T
PLEKHH1	57475	genome.wustl.edu	37	14	68029300	68029300	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:68029300C>A	ENST00000329153.5	+	7	1084	c.952C>A	c.(952-954)Cct>Act	p.P318T		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	318						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGTGCGGGCTCCTGGCACCCC	0.622																																						dbGAP											0													26.0	29.0	28.0					14																	68029300		1983	4147	6130	-	-	-	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.952C>A	14.37:g.68029300C>A	ENSP00000330278:p.Pro318Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.P318T	ENST00000329153.5	37	c.952	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101689	0.20632	.	.	ENSG00000054690	ENST00000329153	T	0.22336	1.96	5.08	2.07	0.26955	.	0.171136	0.52532	D	0.000067	T	0.32224	0.0822	M	0.72118	2.19	0.80722	D	1	P	0.51057	0.941	P	0.53224	0.721	T	0.07809	-1.0753	10	0.72032	D	0.01	.	8.1186	0.30957	0.0:0.708:0.0:0.292	.	318	Q9ULM0	PKHH1_HUMAN	T	318	ENSP00000330278:P318T	ENSP00000330278:P318T	P	+	1	0	PLEKHH1	67099053	0.998000	0.40836	0.453000	0.27007	0.128000	0.20619	2.409000	0.44583	0.730000	0.32425	0.491000	0.48974	CCT	PLEKHH1	-	NULL	ENSG00000054690		0.622	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	20	0.00	0	C	XM_031054		68029300	68029300	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.901	A
PLEKHH3	79990	genome.wustl.edu	37	17	40826429	40826429	+	Splice_Site	SNP	T	T	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:40826429T>C	ENST00000591022.1	-	2	550		c.e2-2		PLEKHH3_ENST00000412503.1_Splice_Site|PLEKHH3_ENST00000293349.6_Splice_Site|PLEKHH3_ENST00000456950.2_Splice_Site	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3						signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGGACCCTGGGGAGACAG	0.642																																						dbGAP											0													58.0	52.0	54.0					17																	40826429		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.163-2A>G	17.37:g.40826429T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Splice_Site	SNP	-	e2-2	ENST00000591022.1	37	c.163-2	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217605	0.22373	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	5.02	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4159	0.32670	0.1743:0.0:0.0:0.8257	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHH3	38079955	0.984000	0.35163	0.977000	0.42913	0.079000	0.17450	1.199000	0.32235	1.875000	0.54330	0.402000	0.26972	.	PLEKHH3	-	-	ENSG00000068137		0.642	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	13	0.00	0	T	NM_024927	Intron	40826429	40826429	-1	no_errors	ENST00000591022	ensembl	human	known	69_37n	splice_site	6	50.00	6	SNP	0.946	C
PLXNA3	55558	genome.wustl.edu	37	X	153698349	153698349	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:153698349G>C	ENST00000369682.3	+	29	5000	c.4825G>C	c.(4825-4827)Gat>Cat	p.D1609H	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1609					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCAGCCCTGATAGCCTCCG	0.622																																						dbGAP											0													70.0	60.0	63.0					X																	153698349		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4825G>C	X.37:g.153698349G>C	ENSP00000358696:p.Asp1609His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D1609H	ENST00000369682.3	37	c.4825	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535319	0.85812	.	.	ENSG00000130827	ENST00000369682	T	0.12255	2.7	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.76170	2.325	0.80722	D	1	P	0.45011	0.848	P	0.53360	0.724	T	0.03043	-1.1079	10	0.45353	T	0.12	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1609	P51805	PLXA3_HUMAN	H	1609	ENSP00000358696:D1609H	ENSP00000358696:D1609H	D	+	1	0	PLXNA3	153351543	1.000000	0.71417	0.912000	0.35992	0.988000	0.76386	8.018000	0.88722	2.072000	0.62099	0.529000	0.55759	GAT	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000130827		0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	23	0.00	0	G	NM_017514		153698349	153698349	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.995	C
POU2F1	5451	genome.wustl.edu	37	1	167301713	167301713	+	5'UTR	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:167301713G>C	ENST00000541643.3	+	0	161				POU2F1_ENST00000367862.5_Missense_Mutation_p.R12T|POU2F1_ENST00000367866.2_Missense_Mutation_p.R23T|POU2F1_ENST00000420254.3_5'UTR|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_5'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R23T			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCAGACTCAAGAATGAACAAT	0.393																																						dbGAP											0													80.0	79.0	79.0					1																	167301713		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.-2G>C	1.37:g.167301713G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.R23T	ENST00000541643.3	37	c.68		1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210925	0.58343	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367862	D;D;D	0.86865	-2.18;-2.04;-2.16	5.53	4.61	0.57282	.	1.094810	0.06597	N	0.753115	T	0.77445	0.4131	L	0.42245	1.32	0.80722	D	1	P	0.42518	0.782	B	0.36092	0.217	T	0.73757	-0.3882	10	0.87932	D	0	.	13.9973	0.64409	0.0736:0.0:0.9264:0.0	.	12	P14859-2	.	T	23;23;12	ENSP00000356840:R23T;ENSP00000401217:R23T;ENSP00000356836:R12T	ENSP00000356836:R12T	R	+	2	0	POU2F1	165568337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.813000	0.69201	1.463000	0.47967	0.591000	0.81541	AGA	POU2F1	-	NULL	ENSG00000143190		0.393	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		44	0.00	0	G	NM_002697		167301713	167301713	+1	no_errors	ENST00000367866	ensembl	human	known	69_37n	missense	49	41.67	35	SNP	1.000	C
PPAN	56342	genome.wustl.edu	37	19	10217225	10217225	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:10217225G>C	ENST00000253107.7	+	2	173	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E23Q|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_5'UTR|PPAN_ENST00000556468.1_Missense_Mutation_p.E23Q|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E23Q	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	23					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCGCAACCTCGAGGCCTATGC	0.716																																						dbGAP											0													9.0	13.0	12.0					19																	10217225		2135	4192	6327	-	-	-	SO:0001583	missense	0			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.67G>C	19.37:g.10217225G>C	ENSP00000253107:p.Glu23Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam	p.E23Q	ENST00000253107.7	37	c.67	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.513989	0.96402	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696	T;T;T;T	0.65178	1.32;-0.14;1.35;-0.14	5.57	5.57	0.84162	.	.	.	.	.	T	0.58694	0.2140	L	0.29908	0.895	0.80722	D	1	D;D;D	0.53885	0.963;0.963;0.963	P;P;P	0.47044	0.457;0.535;0.535	T	0.62793	-0.6779	9	0.59425	D	0.04	-45.3531	17.028	0.86453	0.0:0.0:1.0:0.0	.	23;23;23	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	Q	23	ENSP00000411918:E23Q;ENSP00000377385:E23Q;ENSP00000253107:E23Q;ENSP00000450710:E23Q	ENSP00000253107:E23Q	E	+	1	0	PPAN;PPAN-P2RY11	10078225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.068000	0.64364	2.623000	0.88846	0.561000	0.74099	GAG	PPAN-P2RY11	-	NULL	ENSG00000243207		0.716	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	16	0.00	0	G	NM_020230		10217225	10217225	+1	no_errors	ENST00000393796	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	C
PRDM13	59336	genome.wustl.edu	37	6	100055049	100055049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr6:100055049delA	ENST00000369215.4	+	1	444	c.139delA	c.(139-141)aaafs	p.K48fs		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	48	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGGGCCTAAGAAAAAGGTATT	0.607																																						dbGAP											0													43.0	51.0	49.0					6																	100055049		1997	4181	6178	-	-	-	SO:0001589	frameshift_variant	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.139delA	6.37:g.100055049delA	ENSP00000358217:p.Lys48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGC1|Q5TGC2	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.K48fs	ENST00000369215.4	37	c.139	CCDS43487.1	6																																																																																			PRDM13	-	pfscan_SET_dom	ENSG00000112238		0.607	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	28	0.00	0	A			100055049	100055049	+1	no_errors	ENST00000369214	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
PTCHD1	139411	genome.wustl.edu	37	X	23397742	23397743	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:23397742_23397743GG>AT	ENST00000379361.4	+	2	1246_1247	c.386_387GG>AT	c.(385-387)aGG>aAT	p.R129N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	129					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.R24K(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGGTTCCAAGGCCTGGTTTTA	0.386																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	Exception_encountered	X.37:g.23397742_23397743delinsAT	ENSP00000368666:p.Arg129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R129K|p.R129S	ENST00000379361.4	37	c.386|c.387	CCDS35215.2	X																																																																																			PTCHD1	-	pfam_Patched	ENSG00000165186		0.386	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	39|41	0.00	0	G	NM_173495		23397742|23397743	23397742|23397743	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	A|T
PTPN12	5782	genome.wustl.edu	37	7	77240143	77240143	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:77240143C>G	ENST00000248594.6	+	10	1096	c.824C>G	c.(823-825)tCt>tGt	p.S275C	PTPN12_ENST00000435495.2_Missense_Mutation_p.S145C|PTPN12_ENST00000415482.2_Missense_Mutation_p.S156C	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	275	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CAAAGGCATTCTGCAGTACAA	0.244																																						dbGAP											0													42.0	47.0	45.0					7																	77240143		2136	4264	6400	-	-	-	SO:0001583	missense	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.824C>G	7.37:g.77240143C>G	ENSP00000248594:p.Ser275Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S275C	ENST00000248594.6	37	c.824	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339715	0.81911	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;D;D	0.84223	2.74;-1.82;-1.82	5.47	5.47	0.80525	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93160	0.6557	10	0.66056	D	0.02	.	19.6841	0.95974	0.0:1.0:0.0:0.0	.	275	Q05209	PTN12_HUMAN	C	275;156;156;145	ENSP00000248594:S275C;ENSP00000392429:S156C;ENSP00000397991:S145C	ENSP00000248594:S275C	S	+	2	0	PTPN12	77078079	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.910000	0.75741	2.714000	0.92807	0.655000	0.94253	TCT	PTPN12	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000127947		0.244	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	27	0.00	0	C			77240143	77240143	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	G
PTPRC	5788	genome.wustl.edu	37	1	198676020	198676020	+	Silent	SNP	T	T	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:198676020T>G	ENST00000367376.2	+	9	1008	c.837T>G	c.(835-837)gtT>gtG	p.V279V	PTPRC_ENST00000352140.3_Silent_p.V231V|PTPRC_ENST00000442510.2_Silent_p.V281V|PTPRC_ENST00000348564.6_Silent_p.V120V|PTPRC_ENST00000594404.1_Silent_p.V118V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	279					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCGTCTGTTTCCATATCTC	0.299																																						dbGAP											0													147.0	152.0	150.0					1																	198676020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.837T>G	1.37:g.198676020T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Silent	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V281	ENST00000367376.2	37	c.843		1																																																																																			PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Leukocyte_common_ag	ENSG00000081237		0.299	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		56	0.00	0	T			198676020	198676020	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	silent	58	30.12	25	SNP	0.001	G
PTPRT	11122	genome.wustl.edu	37	20	40790028	40790028	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr20:40790028C>G	ENST00000373187.1	-	17	2645	c.2646G>C	c.(2644-2646)aaG>aaC	p.K882N	PTPRT_ENST00000373193.3_Missense_Mutation_p.K885N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K881N|PTPRT_ENST00000373201.1_Missense_Mutation_p.K872N|PTPRT_ENST00000373184.1_Missense_Mutation_p.K872N|PTPRT_ENST00000373198.4_Missense_Mutation_p.K901N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K891N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	882					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGGCCTCTCTTCATCTGCG	0.572																																						dbGAP											0													67.0	72.0	70.0					20																	40790028		2113	4252	6365	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2646G>C	20.37:g.40790028C>G	ENSP00000362283:p.Lys882Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.K904N	ENST00000373187.1	37	c.2712	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191842	0.78902	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.58607	-0.7607	10	0.87932	D	0	.	13.0917	0.59169	0.0:0.9227:0.0:0.0773	.	904;882	O14522-1;O14522	.;PTPRT_HUMAN	N	881;882;885;891;904;872;872	ENSP00000362286:K881N;ENSP00000362283:K882N;ENSP00000362289:K885N;ENSP00000348408:K891N;ENSP00000362294:K904N;ENSP00000362280:K872N;ENSP00000362297:K872N	ENSP00000348408:K891N	K	-	3	2	PTPRT	40223442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.493000	0.45320	2.410000	0.81850	0.650000	0.86243	AAG	PTPRT	-	NULL	ENSG00000196090		0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	26	0.00	0	C			40790028	40790028	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	21	46.15	18	SNP	1.000	G
PYDC2	152138	genome.wustl.edu	37	3	191179038	191179038	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:191179038G>A	ENST00000518817.1	+	1	87	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	29	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L29L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TCAAGTCTCTGATCAGAACAA	0.517																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											76.0	84.0	81.0					3																	191179038		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0					3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.87G>A	3.37:g.191179038G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	p.L29	ENST00000518817.1	37	c.87		3																																																																																			PYDC2	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000253548		0.517	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	PYDC2	HGNC	protein_coding	OTTHUMT00000343231.2	26	0.00	0	G	NM_001083308		191179038	191179038	+1	no_errors	ENST00000518817	ensembl	human	known	69_37n	silent	15	51.61	16	SNP	0.017	A
QSER1	79832	genome.wustl.edu	37	11	32956104	32956104	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:32956104G>T	ENST00000399302.2	+	4	3248	c.2913G>T	c.(2911-2913)gaG>gaT	p.E971D	QSER1_ENST00000527788.1_Missense_Mutation_p.E732D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	971										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)					AAGTCCAGGAGCAAAGTTCTG	0.393																																						dbGAP											0													61.0	58.0	59.0					11																	32956104		1872	4100	5972	-	-	-	SO:0001583	missense	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.2913G>T	11.37:g.32956104G>T	ENSP00000382241:p.Glu971Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.E971D	ENST00000399302.2	37	c.2913	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503886	0.26949	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.27720	2.0;1.65	5.69	0.484	0.16825	.	0.146827	0.46145	N	0.000309	T	0.24890	0.0604	M	0.62723	1.935	0.37570	D	0.919389	B;B;B	0.17268	0.021;0.011;0.003	B;B;B	0.17098	0.013;0.017;0.007	T	0.08743	-1.0707	10	0.24483	T	0.36	.	6.372	0.21487	0.4403:0.1227:0.4369:0.0	.	732;732;971	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	D	971;732;732	ENSP00000382241:E971D;ENSP00000432766:E732D	ENSP00000078652:E732D	E	+	3	2	QSER1	32912680	0.997000	0.39634	0.992000	0.48379	0.969000	0.65631	0.263000	0.18478	0.046000	0.15833	-0.291000	0.09656	GAG	QSER1	-	NULL	ENSG00000060749		0.393	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	29	0.00	0	G	NM_024774		32956104	32956104	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	0.897	T
RAI14	26064	genome.wustl.edu	37	5	34824468	34824468	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:34824468C>G	ENST00000265109.3	+	15	2808	c.2521C>G	c.(2521-2523)Ctc>Gtc	p.L841V	RAI14_ENST00000428746.2_Missense_Mutation_p.L841V|RAI14_ENST00000506376.1_Missense_Mutation_p.L833V|RAI14_ENST00000503673.1_Missense_Mutation_p.L841V|RAI14_ENST00000397449.1_Missense_Mutation_p.L834V|RAI14_ENST00000515799.1_Missense_Mutation_p.L844V|RAI14_ENST00000512629.1_Missense_Mutation_p.L812V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	841						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TATTCAGACTCTCTTGAAATC	0.393																																						dbGAP											0													64.0	68.0	67.0					5																	34824468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2521C>G	5.37:g.34824468C>G	ENSP00000265109:p.Leu841Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L844V	ENST00000265109.3	37	c.2530	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	C	10.40	1.341062	0.24339	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37235	1.26;1.21;1.26;1.26;1.26;1.3;1.29	5.63	4.76	0.60689	.	.	.	.	.	T	0.29620	0.0739	L	0.38531	1.155	0.38943	D	0.958198	B;B;B;B	0.10296	0.003;0.001;0.003;0.002	B;B;B;B	0.12156	0.005;0.003;0.007;0.004	T	0.08806	-1.0704	9	0.39692	T	0.17	-2.4708	12.2257	0.54459	0.135:0.7351:0.1299:0.0	.	833;812;844;841	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	841;812;841;841;844;833;834	ENSP00000265109:L841V;ENSP00000422377:L812V;ENSP00000388725:L841V;ENSP00000422942:L841V;ENSP00000427123:L844V;ENSP00000423854:L833V;ENSP00000380591:L834V	ENSP00000265109:L841V	L	+	1	0	RAI14	34860225	0.935000	0.31712	1.000000	0.80357	0.993000	0.82548	1.315000	0.33608	1.373000	0.46208	0.555000	0.69702	CTC	RAI14	-	NULL	ENSG00000039560		0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	20	0.00	0	C	NM_015577		34824468	34824468	+1	no_errors	ENST00000515799	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.939	G
RB1	5925	genome.wustl.edu	37	13	48941691	48941691	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr13:48941691G>A	ENST00000267163.4	+	10	1139	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	334					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTAGATGCAAGATTATTTTTG	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											71.0	85.0	80.0					13																	48941691		2193	4288	6481	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1001G>A	13.37:g.48941691G>A	ENSP00000267163:p.Arg334Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R334K	ENST00000267163.4	37	c.1001	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824772	0.90955	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96967	-4.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.98113	1.0421	10	0.62326	D	0.03	.	18.8309	0.92139	0.0:0.0:1.0:0.0	.	334	P06400	RB_HUMAN	K	313;334	ENSP00000267163:R334K	ENSP00000267163:R334K	R	+	2	0	RB1	47839692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.100000	0.76989	2.521000	0.84997	0.591000	0.81541	AGA	RB1	-	NULL	ENSG00000139687		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	23	0.00	0	G			48941691	48941691	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	A
RB1	5925	genome.wustl.edu	37	13	49039501	49039501	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr13:49039501C>G	ENST00000267163.4	+	23	2624	c.2486C>G	c.(2485-2487)tCa>tGa	p.S829*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	829	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.S829*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTCCAAGATCAAGGTGTGTG	0.368		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(2)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)											53.0	56.0	55.0					13																	49039501		2200	4299	6499	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2486C>G	13.37:g.49039501C>G	ENSP00000267163:p.Ser829*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.S829*	ENST00000267163.4	37	c.2486	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.096781	0.98651	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	808;829	.	ENSP00000267163:S829X	S	+	2	0	RB1	47937502	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.749000	0.74883	2.669000	0.90835	0.591000	0.81541	TCA	RB1	-	pfam_Rb_C	ENSG00000139687		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	48	0.00	0	C			49039501	49039501	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	40	20.00	10	SNP	1.000	G
RBM41	55285	genome.wustl.edu	37	X	106332067	106332067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:106332067C>A	ENST00000372479.3	-	5	556	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	RBM41_ENST00000203616.8_Nonsense_Mutation_p.E200*|RBM41_ENST00000372487.1_Nonsense_Mutation_p.E176*	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	176							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTTGGGGTTCATCTGGATCA	0.353																																						dbGAP											0													74.0	67.0	69.0					X																	106332067		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.526G>T	X.37:g.106332067C>A	ENSP00000361557:p.Glu176*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E176*	ENST00000372479.3	37	c.526	CCDS14526.1	X	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403022	0.83230	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616	.	.	.	5.96	5.96	0.96718	.	0.298040	0.37178	N	0.002201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.5157	0.67818	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;200	.	ENSP00000203616:E200X	E	-	1	0	RBM41	106218723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.544000	0.60691	2.507000	0.84556	0.600000	0.82982	GAA	RBM41	-	NULL	ENSG00000089682		0.353	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	HGNC	protein_coding	OTTHUMT00000057819.1	23	0.00	0	C	NM_018301		106332067	106332067	-1	no_errors	ENST00000372479	ensembl	human	known	69_37n	nonsense	39	29.09	16	SNP	1.000	A
RBM6	10180	genome.wustl.edu	37	3	50036917	50036917	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:50036917G>C	ENST00000266022.4	+	6	1787	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D378H	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	510	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTCTTGGAAGATGCCATCGG	0.448																																						dbGAP											0													195.0	178.0	184.0					3																	50036917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1528G>C	3.37:g.50036917G>C	ENSP00000266022:p.Asp510His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D510H	ENST00000266022.4	37	c.1528	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771483	0.90108	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.50813	0.73;0.73	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.144361	0.44688	D	0.000423	T	0.64875	0.2638	L	0.60067	1.865	0.80722	D	1	D;P	0.67145	0.996;0.939	P;P	0.61533	0.89;0.823	T	0.58358	-0.7650	9	.	.	.	-15.7392	20.4745	0.99168	0.0:0.0:1.0:0.0	.	378;510	E9PGM9;P78332	.;RBM6_HUMAN	H	510;378	ENSP00000266022:D510H;ENSP00000396466:D378H	.	D	+	1	0	RBM6	50011921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.293000	0.96082	2.941000	0.99782	0.655000	0.94253	GAT	RBM6	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000004534		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	55	0.00	0	G	NM_005777		50036917	50036917	+1	no_errors	ENST00000266022	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	1.000	C
RBM5	10181	genome.wustl.edu	37	3	50151418	50151418	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:50151418G>C	ENST00000347869.3	+	19	1828	c.1653G>C	c.(1651-1653)ttG>ttC	p.L551F	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	551	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTAAGAGTTTGAATAAGCAGA	0.408																																						dbGAP											0													59.0	59.0	59.0					3																	50151418		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1653G>C	3.37:g.50151418G>C	ENSP00000343054:p.Leu551Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.L551F	ENST00000347869.3	37	c.1653	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318579	0.60524	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.19532	2.14	5.3	1.68	0.24146	.	0.165679	0.37857	N	0.001908	T	0.43211	0.1237	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.991;0.993	T	0.16070	-1.0415	10	0.38643	T	0.18	-6.2678	8.7067	0.34358	0.6375:0.0:0.3625:0.0	.	241;551	Q59HE6;P52756	.;RBM5_HUMAN	F	551;550;241	ENSP00000343054:L551F	ENSP00000343054:L551F	L	+	3	2	RBM5	50126422	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.659000	0.24994	0.050000	0.15949	0.555000	0.69702	TTG	RBM5	-	NULL	ENSG00000003756		0.408	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	32	0.00	0	G	NM_005778		50151418	50151418	+1	no_errors	ENST00000347869	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.994	C
RGPD4	285190	genome.wustl.edu	37	2	108455374	108455374	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:108455374G>C	ENST00000408999.3	+	4	436	c.359G>C	c.(358-360)aGa>aCa	p.R120T	RGPD4_ENST00000354986.4_Missense_Mutation_p.R120T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	120					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGGTGGAAAGAGCAGCAAAA	0.338																																						dbGAP											0													174.0	159.0	164.0					2																	108455374		692	1584	2276	-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.359G>C	2.37:g.108455374G>C	ENSP00000386810:p.Arg120Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R120T	ENST00000408999.3	37	c.359	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	g	4.468	0.086795	0.08583	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.39787	1.06;1.06	2.5	0.557	0.17260	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.37732	0.1014	M	0.66939	2.045	0.26513	N	0.974566	B	0.23058	0.079	B	0.18871	0.023	T	0.36648	-0.9739	9	0.66056	D	0.02	-18.4189	6.4718	0.22013	0.3856:0.0:0.6144:0.0	.	120	Q7Z3J3	RGPD4_HUMAN	T	120;120;63	ENSP00000347081:R120T;ENSP00000386810:R120T	ENSP00000347081:R120T	R	+	2	0	RGPD4	107821806	1.000000	0.71417	0.989000	0.46669	0.063000	0.16089	3.502000	0.53332	-0.015000	0.14150	0.184000	0.17185	AGA	RGPD4	-	NULL	ENSG00000196862		0.338	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	93	0.00	0	G	XM_496581		108455374	108455374	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	1.000	C
RGS8	85397	genome.wustl.edu	37	1	182617366	182617366	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:182617366C>G	ENST00000483095.2	-	6	523	c.266G>C	c.(265-267)tGt>tCt	p.C89S	RGS8_ENST00000367557.4_Missense_Mutation_p.C89S|RGS8_ENST00000367556.1_Missense_Mutation_p.C89S|RGS8_ENST00000258302.4_Missense_Mutation_p.C107S			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	89	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GAACTCCTCACAGGCCAACCA	0.522																																					Ovarian(189;1262 3804 41973)	dbGAP											0													206.0	202.0	203.0					1																	182617366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.266G>C	1.37:g.182617366C>G	ENSP00000426289:p.Cys89Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGL9|Q3SYD2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.C107S	ENST00000483095.2	37	c.320	CCDS41443.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818773	0.90873	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.55	5.55	0.83447	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78393	-0.2221	10	0.87932	D	0	.	19.0841	0.93196	0.0:1.0:0.0:0.0	.	89;107	P57771;P57771-2	RGS8_HUMAN;.	S	89;107;89;89	ENSP00000426289:C89S;ENSP00000258302:C107S;ENSP00000356528:C89S;ENSP00000356527:C89S	ENSP00000258302:C107S	C	-	2	0	RGS8	180883989	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.556000	0.82233	2.600000	0.87896	0.563000	0.77884	TGT	RGS8	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000135824		0.522	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	30	0.00	0	C	NM_033345		182617366	182617366	-1	no_errors	ENST00000258302	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	G
RINT1	60561	genome.wustl.edu	37	7	105205803	105205803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:105205803C>T	ENST00000257700.2	+	13	2197	c.1966C>T	c.(1966-1968)Cga>Tga	p.R656*	EFCAB10_ENST00000490493.1_5'Flank|EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	656	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGACGTTACGAGACCATTT	0.443																																						dbGAP											0													104.0	96.0	99.0					7																	105205803		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1966C>T	7.37:g.105205803C>T	ENSP00000257700:p.Arg656*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Nonsense_Mutation	SNP	pfam_RINT1_TIP1	p.R656*	ENST00000257700.2	37	c.1966	CCDS34726.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.089063	0.97271	.	.	ENSG00000135249	ENST00000257700	.	.	.	5.48	0.896	0.19253	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1632	9.836	0.40968	0.5098:0.4168:0.0:0.0734	.	.	.	.	X	656	.	ENSP00000257700:R656X	R	+	1	2	RINT1	104993039	0.209000	0.23505	0.346000	0.25655	0.659000	0.38960	0.418000	0.21230	0.219000	0.20840	0.650000	0.86243	CGA	RINT1	-	pfam_RINT1_TIP1	ENSG00000135249		0.443	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	56	0.00	0	C	NM_021930		105205803	105205803	+1	no_errors	ENST00000257700	ensembl	human	known	69_37n	nonsense	41	28.07	16	SNP	0.655	T
RNF32	140545	genome.wustl.edu	37	7	156450902	156450902	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:156450902G>A	ENST00000405335.1	+	7	940	c.531G>A	c.(529-531)gtG>gtA	p.V177V	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Silent_p.V177V|RNF32_ENST00000343665.4_Silent_p.V153V|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Silent_p.V177V|RNF32_ENST00000317955.5_Silent_p.V177V|RNF32_ENST00000392743.2_Silent_p.V177V|RNF32_ENST00000392741.2_Silent_p.V177V			Q9H0A6	RNF32_HUMAN	ring finger protein 32	177						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAACCCGAGTGATACACGATG	0.473																																						dbGAP											0													53.0	58.0	56.0					7																	156450902		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.531G>A	7.37:g.156450902G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.V177	ENST00000405335.1	37	c.531	CCDS5944.1	7																																																																																			RNF32	-	NULL	ENSG00000105982		0.473	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	36	0.00	0	G	NM_030936		156450902	156450902	+1	no_errors	ENST00000317955	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	1.000	A
RNF7	9616	genome.wustl.edu	37	3	141464080	141464080	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:141464080C>G	ENST00000273480.3	+	3	441	c.303C>G	c.(301-303)ctC>ctG	p.L101L	RNF7_ENST00000480908.1_Silent_p.L85L|RNF7_ENST00000393000.3_3'UTR	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	101					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GCTGCCCTCTCTGCCAGCAGG	0.488																																						dbGAP											0													72.0	58.0	63.0					3																	141464080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.303C>G	3.37:g.141464080C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Silent	SNP	pfscan_Znf_RING	p.L101	ENST00000273480.3	37	c.303	CCDS3118.1	3																																																																																			RNF7	-	pfscan_Znf_RING	ENSG00000114125		0.488	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF7	HGNC	protein_coding	OTTHUMT00000280602.1	22	0.00	0	C	NM_014245		141464080	141464080	+1	no_errors	ENST00000273480	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.999	G
RUNX1T1	862	genome.wustl.edu	37	8	93088269	93088269	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr8:93088269G>A	ENST00000523629.1	-	2	466	c.12C>T	c.(10-12)gtC>gtT	p.V4V	RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000265814.3_Silent_p.V4V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	4					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTTTCTTTTGACAGATATCA	0.393																																						dbGAP											0													200.0	190.0	193.0					8																	93088269		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.12C>T	8.37:g.93088269G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.V4	ENST00000523629.1	37	c.12	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL	ENSG00000079102		0.393	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	42	0.00	0	G	NM_004349, NM_175635		93088269	93088269	-1	no_errors	ENST00000265814	ensembl	human	known	69_37n	silent	54	21.74	15	SNP	1.000	A
S1PR4	8698	genome.wustl.edu	37	19	3179900	3179900	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:3179900G>A	ENST00000246115.3	+	1	1165	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	370					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCAGCTTTCGGATGCGGGAGC	0.677																																					GBM(82;318 1638 33279 49708)	dbGAP											0													43.0	53.0	50.0					19																	3179900		2160	4203	6363	-	-	-	SO:0001819	synonymous_variant	0			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1110G>A	19.37:g.3179900G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W612	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_EDG6_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn	p.R370	ENST00000246115.3	37	c.1110	CCDS12105.1	19																																																																																			S1PR4	-	prints_EDG6_rcpt	ENSG00000125910		0.677	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR4	HGNC	protein_coding	OTTHUMT00000452517.1	16	0.00	0	G	NM_003775		3179900	3179900	+1	no_errors	ENST00000246115	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	1.000	A
SCN3A	6328	genome.wustl.edu	37	2	165947193	165947193	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:165947193G>C	ENST00000360093.3	-	28	5961	c.5470C>G	c.(5470-5472)Ctt>Gtt	p.L1824V	SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.L307V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1824V|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1775V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1824					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTATGAGAAGAGGAGGATCC	0.448																																						dbGAP											0													94.0	100.0	98.0					2																	165947193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5470C>G	2.37:g.165947193G>C	ENSP00000353206:p.Leu1824Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1824V	ENST00000360093.3	37	c.5470		2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689715	0.68271	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000017	T	0.51770	0.1694	H	0.96805	3.885	0.80722	D	1	D;P;D	0.76494	0.981;0.825;0.999	D;P;D	0.87578	0.987;0.847;0.998	T	0.66732	-0.5849	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1775;1775;1824	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1824;1824;1775;307	ENSP00000353206:L1824V;ENSP00000283254:L1824V;ENSP00000386726:L1775V;ENSP00000439920:L307V	ENSP00000283254:L1824V	L	-	1	0	SCN3A	165655439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.025000	0.88777	2.884000	0.98904	0.655000	0.94253	CTT	SCN3A	-	NULL	ENSG00000153253		0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		72	0.00	0	G	NM_006922		165947193	165947193	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	C
SCG2	7857	genome.wustl.edu	37	2	224462236	224462236	+	Missense_Mutation	SNP	G	G	C	rs200478040		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:224462236G>C	ENST00000305409.2	-	2	1997	c.1765C>G	c.(1765-1767)Ctg>Gtg	p.L589V		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCATTAACAGATCTTCATCC	0.473																																						dbGAP											0													134.0	131.0	132.0					2																	224462236		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1765C>G	2.37:g.224462236G>C	ENSP00000304133:p.Leu589Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.L589V	ENST00000305409.2	37	c.1765	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	G	3.274	-0.148391	0.06627	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01705	4.68	5.48	-0.0871	0.13678	.	0.465441	0.20719	N	0.086960	T	0.02230	0.0069	L	0.40543	1.245	0.21604	N	0.999622	B	0.23735	0.09	B	0.31442	0.13	T	0.40213	-0.9575	10	0.66056	D	0.02	.	10.297	0.43629	0.0742:0.0:0.229:0.6969	.	589	P13521	SCG2_HUMAN	V	589;449	ENSP00000304133:L589V	ENSP00000304133:L589V	L	-	1	2	SCG2	224170480	1.000000	0.71417	0.972000	0.41901	0.073000	0.16967	2.526000	0.45607	-0.030000	0.13804	-0.302000	0.09304	CTG	SCG2	-	pfam_Granin	ENSG00000171951		0.473	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	74	0.00	0	G	NM_003469		224462236	224462236	-1	no_errors	ENST00000305409	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.627	C
SIDT1	54847	genome.wustl.edu	37	3	113323818	113323818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:113323818C>T	ENST00000264852.4	+	14	2125	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*	SIDT1_ENST00000393830.3_Nonsense_Mutation_p.Q467*|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	467					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CATTACCTATCAGACAGTAAG	0.498																																						dbGAP											0													103.0	97.0	99.0					3																	113323818		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1399C>T	3.37:g.113323818C>T	ENSP00000264852:p.Gln467*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR4	Nonsense_Mutation	SNP	NULL	p.Q467*	ENST00000264852.4	37	c.1399	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.397614	0.99159	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.0183	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	467	.	ENSP00000264852:Q467X	Q	+	1	0	SIDT1	114806508	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.687000	0.84139	2.774000	0.95407	0.655000	0.94253	CAG	SIDT1	-	NULL	ENSG00000072858		0.498	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	46	0.00	0	C	NM_017699		113323818	113323818	+1	no_errors	ENST00000393830	ensembl	human	known	69_37n	nonsense	51	12.07	7	SNP	1.000	T
SIDT2	51092	genome.wustl.edu	37	11	117062717	117062717	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:117062717C>T	ENST00000324225.4	+	19	2390	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F	SIDT2_ENST00000431081.2_Missense_Mutation_p.S617F|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	620					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATCTTCTTCTCTGTGCTGGGC	0.607																																						dbGAP											0													153.0	142.0	146.0					11																	117062717		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1859C>T	11.37:g.117062717C>T	ENSP00000314023:p.Ser620Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.S641F	ENST00000324225.4	37	c.1922	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.094742	0.94149	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.21031	2.03;2.03;2.03	4.91	4.91	0.64330	.	0.113064	0.64402	D	0.000007	T	0.35740	0.0942	L	0.38838	1.175	0.80722	D	1	P;P;P;P	0.50272	0.917;0.731;0.708;0.933	P;B;P;P	0.62885	0.694;0.444;0.722;0.908	T	0.01925	-1.1246	10	0.36615	T	0.2	-21.0197	18.2914	0.90131	0.0:1.0:0.0:0.0	.	641;617;620;641	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	F	620;641;617	ENSP00000314023:S620F;ENSP00000278951:S641F;ENSP00000399635:S617F	ENSP00000278951:S641F	S	+	2	0	SIDT2	116567927	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.524000	0.81866	2.573000	0.86826	0.655000	0.94253	TCT	SIDT2	-	NULL	ENSG00000149577		0.607	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	49	0.00	0	C	NM_015996		117062717	117062717	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	1.000	T
SIGLEC6	946	genome.wustl.edu	37	19	52034562	52034562	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:52034562G>C	ENST00000425629.3	-	2	433	c.279C>G	c.(277-279)ttC>ttG	p.F93L	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.F93L|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.F93L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.F57L|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.F93L|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.F93L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	93	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGAGGTGGAATCGGCCCC	0.552																																						dbGAP											0													72.0	79.0	77.0					19																	52034562		2193	4298	6491	-	-	-	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.279C>G	19.37:g.52034562G>C	ENSP00000401502:p.Phe93Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F93L	ENST00000425629.3	37	c.279	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037071	0.54896	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	3.23	0.858	0.19030	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.192980	0.25497	N	0.030280	T	0.61286	0.2335	M	0.81802	2.56	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.989;0.999;0.984;0.975;0.999;1.0;0.993	T	0.49399	-0.8944	10	0.45353	T	0.12	.	3.6667	0.08258	0.1386:0.0:0.6195:0.2419	.	93;57;93;93;93;93;93	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	L	82;93;93;93;57;93;93	ENSP00000375674:F93L;ENSP00000401502:F93L;ENSP00000353071:F93L;ENSP00000410679:F57L;ENSP00000345907:F93L	ENSP00000345907:F93L	F	-	3	2	SIGLEC6	56726374	0.966000	0.33281	0.000000	0.03702	0.182000	0.23217	3.320000	0.51991	0.152000	0.19188	0.313000	0.20887	TTC	SIGLEC6	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000105492		0.552	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	41	0.00	0	G	NM_001245		52034562	52034562	-1	no_errors	ENST00000425629	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.001	C
SIX4	51804	genome.wustl.edu	37	14	61186663	61186663	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:61186663C>G	ENST00000216513.4	-	2	1423	c.1364G>C	c.(1363-1365)aGa>aCa	p.R455T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	455					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AATGCCTTCTCTTTTCACCTC	0.498																																						dbGAP											0													177.0	177.0	177.0					14																	61186663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1364G>C	14.37:g.61186663C>G	ENSP00000216513:p.Arg455Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQH5|Q4V764	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R455T	ENST00000216513.4	37	c.1364	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198379	0.38806	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90069	-2.61;0.97	5.72	4.83	0.62350	.	0.351775	0.32819	N	0.005609	T	0.75503	0.3858	N	0.12182	0.205	0.28027	N	0.934294	B;B	0.21147	0.052;0.031	B;B	0.15052	0.012;0.005	T	0.60058	-0.7337	10	0.12103	T	0.63	.	9.7883	0.40690	0.0:0.7862:0.141:0.0728	.	447;455	G3V2N2;Q9UIU6	.;SIX4_HUMAN	T	455;128;447	ENSP00000216513:R455T;ENSP00000451537:R128T	ENSP00000216513:R455T	R	-	2	0	SIX4	60256416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.692000	0.47018	2.717000	0.92951	0.655000	0.94253	AGA	SIX4	-	NULL	ENSG00000100625		0.498	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	HGNC	protein_coding	OTTHUMT00000072397.2	47	0.00	0	C			61186663	61186663	-1	no_errors	ENST00000216513	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	0.996	G
SLC39A7	7922	genome.wustl.edu	37	6	33169176	33169176	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr6:33169176G>A	ENST00000374677.3	+	1	527	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.E52K|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	52	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCACTCACATGAAGATTTCCA	0.587																																						dbGAP											0													84.0	90.0	88.0					6																	33169176		2135	4246	6381	-	-	-	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.154G>A	6.37:g.33169176G>A	ENSP00000363809:p.Glu52Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.E52K	ENST00000374677.3	37	c.154	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647534	0.47258	.	.	ENSG00000112473	ENST00000374675;ENST00000374677	T;T	0.59772	0.24;0.24	4.49	3.6	0.41247	.	0.787623	0.11532	N	0.554589	T	0.17195	0.0413	N	0.12182	0.205	0.28894	N	0.893698	B	0.12013	0.005	B	0.08055	0.003	T	0.08700	-1.0709	10	0.17832	T	0.49	-8.808	8.5719	0.33574	0.1081:0.0:0.8919:0.0	.	52	Q92504	S39A7_HUMAN	K	52	ENSP00000363807:E52K;ENSP00000363809:E52K	ENSP00000363807:E52K	E	+	1	0	SLC39A7	33277154	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.925000	0.48884	2.356000	0.79943	0.289000	0.19496	GAA	SLC39A7	-	prints_Kininogen	ENSG00000112473		0.587	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	30	0.00	0	G	NM_006979		33169176	33169176	+1	no_errors	ENST00000374675	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	A
SLC8A3	6547	genome.wustl.edu	37	14	70633483	70633483	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:70633483G>A	ENST00000381269.2	-	2	2410	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	SLC8A3_ENST00000357887.3_Silent_p.L553L|SLC8A3_ENST00000356921.2_Silent_p.L553L|SLC8A3_ENST00000534137.1_Silent_p.L553L|SLC8A3_ENST00000528359.1_Silent_p.L553L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	553	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GATGTCCGCAGAACCTTGACC	0.493																																						dbGAP											0													94.0	91.0	92.0					14																	70633483		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1657C>T	14.37:g.70633483G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.L553	ENST00000381269.2	37	c.1657	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000100678		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	33	0.00	0	G			70633483	70633483	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	1.000	A
SLFN13	146857	genome.wustl.edu	37	17	33768152	33768152	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:33768152G>C	ENST00000285013.6	-	6	2431	c.2156C>G	c.(2155-2157)tCa>tGa	p.S719*	SLFN13_ENST00000533791.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.S401*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.S719*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.S401*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	719						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATACTGTGCTGAGAGAGGGGG	0.448																																						dbGAP											0													134.0	142.0	139.0					17																	33768152		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2156C>G	17.37:g.33768152G>C	ENSP00000285013:p.Ser719*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P645|Q658M1|Q6ZS51|Q96A81	Nonsense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S719*	ENST00000285013.6	37	c.2156	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	g	36	5.966518	0.97156	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	.	.	.	3.41	-1.27	0.09347	.	3.516830	0.00664	N	0.000603	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	2.5632	0.04777	0.4248:0.0:0.3543:0.2209	.	.	.	.	X	719;401;719;719;401	.	ENSP00000285013:S719X	S	-	2	0	SLFN13	30792265	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.713000	0.05007	-0.074000	0.12820	0.407000	0.27541	TCA	SLFN13	-	NULL	ENSG00000154760		0.448	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	46	0.00	0	G	NM_144682		33768152	33768152	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	nonsense	23	32.35	11	SNP	0.000	C
SMPD4	55627	genome.wustl.edu	37	2	130910973	130910973	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:130910973C>T	ENST00000409031.1	-	18	3209	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	SMPD4_ENST00000443958.2_Silent_p.Q351Q|SMPD4_ENST00000453750.1_Silent_p.Q436Q|SMPD4_ENST00000426662.2_Silent_p.Q323Q|SMPD4_ENST00000339679.7_Silent_p.Q545Q|SMPD4_ENST00000431183.2_Silent_p.Q585Q|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000452225.2_Silent_p.Q428Q|SMPD4_ENST00000351288.6_Silent_p.Q658Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	648					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CATTCTCATCCTGGGTGGTGC	0.592																																						dbGAP											0													77.0	64.0	69.0					2																	130910973		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2061G>A	2.37:g.130910973C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	NULL	p.R562K	ENST00000409031.1	37	c.1685	CCDS42751.1	2	.	.	.	.	.	.	.	.	.	.	.	5.854	0.341768	0.11069	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.09	2.06	0.26882	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45308	-0.9270	4	.	.	.	.	6.016	0.19603	0.1811:0.7058:0.0:0.1132	.	.	.	.	K	562	.	.	R	-	2	0	SMPD4	130627443	0.990000	0.36364	0.757000	0.31301	0.516000	0.34256	0.213000	0.17521	0.631000	0.30412	0.549000	0.68633	AGG	SMPD4	-	NULL	ENSG00000136699		0.592	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	28	0.00	0	C	NM_017751		130910973	130910973	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000439886	ensembl	human	novel	69_37n	missense	24	33.33	12	SNP	0.962	T
SNCAIP	9627	genome.wustl.edu	37	5	121786699	121786699	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:121786699G>A	ENST00000261368.8	+	10	2419	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.L766L|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.L277L|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.L659L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.L321L|SNCAIP_ENST00000379538.3_Silent_p.L353L|SNCAIP_ENST00000379533.2_Silent_p.L766L	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	719					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCCTGCACCTGATGATTAAGA	0.562																																						dbGAP											0													81.0	82.0	82.0					5																	121786699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2157G>A	5.37:g.121786699G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L766	ENST00000261368.8	37	c.2298	CCDS4131.1	5																																																																																			SNCAIP	-	NULL	ENSG00000064692		0.562	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	36	0.00	0	G			121786699	121786699	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	1.000	A
SNRNP40	9410	genome.wustl.edu	37	1	31769474	31769474	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:31769474C>T	ENST00000263694.4	-	1	143	c.125G>A	c.(124-126)gGa>gAa	p.G42E	SNRNP40_ENST00000446633.2_Missense_Mutation_p.G42E|ZCCHC17_ENST00000546109.1_5'Flank|ZCCHC17_ENST00000344147.5_5'Flank|ZCCHC17_ENST00000373714.1_5'Flank|ZCCHC17_ENST00000422613.2_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CAGCAAGGCTCCCGGCGTCGC	0.647																																						dbGAP											0													36.0	40.0	39.0					1																	31769474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.125G>A	1.37:g.31769474C>T	ENSP00000263694:p.Gly42Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQJ1|O75938|O95320	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G42E	ENST00000263694.4	37	c.125	CCDS340.1	1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971784	0.53614	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.54279	0.58;0.61	5.66	4.69	0.59074	.	0.331079	0.32593	N	0.005890	T	0.32406	0.0828	N	0.08118	0	0.54753	D	0.999984	B;B	0.26318	0.146;0.049	B;B	0.22152	0.038;0.026	T	0.19943	-1.0290	10	0.49607	T	0.09	.	13.1591	0.59535	0.0:0.8397:0.1603:0.0	.	42;42	B4DQJ1;Q96DI7	.;SNR40_HUMAN	E	42	ENSP00000263694:G42E;ENSP00000406841:G42E	ENSP00000263694:G42E	G	-	2	0	SNRNP40	31542061	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.559000	0.45888	2.680000	0.91292	0.655000	0.94253	GGA	SNRNP40	-	NULL	ENSG00000060688		0.647	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	10	0.00	0	C	NM_004814		31769474	31769474	-1	no_errors	ENST00000446633	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	T
SNX7	51375	genome.wustl.edu	37	1	99167432	99167432	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:99167432G>A	ENST00000306121.3	+	7	1107	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	SNX7_ENST00000529992.1_Silent_p.L311L|SNX7_ENST00000370189.5_Silent_p.L302L	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	302					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGAAGTTTTGACCTATAAAA	0.303																																						dbGAP											0													131.0	153.0	146.0					1																	99167432		2203	4293	6496	-	-	-	SO:0001819	synonymous_variant	0			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1098G>A	1.37:g.99167432G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L366	ENST00000306121.3	37	c.1098	CCDS755.2	1																																																																																			SNX7	-	NULL	ENSG00000162627		0.303	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	31	0.00	0	G			99167432	99167432	+1	no_errors	ENST00000306121	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	0.194	A
NPR2	4882	genome.wustl.edu	37	9	35811635	35811635	+	IGR	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:35811635G>A	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Silent_p.G136G|SPAG8_ENST00000396638.2_Silent_p.G136G|SPAG8_ENST00000479751.1_5'Flank|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000484764.1_Silent_p.G134G|TMEM8B_ENST00000377996.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ctggaacagggccagGATTAG	0.557																																						dbGAP											0													60.0	62.0	61.0					9																	35811635		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811635G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	prints_Antifreeze_1	p.A134V	ENST00000342694.2	37	c.401	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	4.477	0.088404	0.08583	.	.	ENSG00000137098	ENST00000497810	.	.	.	5.24	0.896	0.19253	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24048	-1.0171	4	.	.	.	-1.5225	4.8663	0.13609	0.1934:0.3393:0.4673:0.0	.	.	.	.	V	134	.	.	A	-	2	0	SPAG8	35801635	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.193000	0.17116	0.381000	0.24851	0.655000	0.94253	GCC	SPAG8	-	NULL	ENSG00000137098		0.557	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	24	0.00	0	G			35811635	35811635	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000497810	ensembl	human	putative	69_37n	missense	15	31.82	7	SNP	0.000	A
STAB1	23166	genome.wustl.edu	37	3	52550384	52550384	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:52550384C>G	ENST00000321725.6	+	39	4233	c.4157C>G	c.(4156-4158)gCc>gGc	p.A1386G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1386	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGACTGTGCCCATGGGCTG	0.627																																						dbGAP											0													101.0	106.0	104.0					3																	52550384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4157C>G	3.37:g.52550384C>G	ENSP00000312946:p.Ala1386Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.A1386G	ENST00000321725.6	37	c.4157	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358949	0.24598	.	.	ENSG00000010327	ENST00000321725	D	0.87334	-2.24	4.89	-1.2	0.09554	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.487586	0.22480	N	0.059515	T	0.64011	0.2560	N	0.05510	-0.035	0.24101	N	0.995874	B	0.09022	0.002	B	0.09377	0.004	T	0.49399	-0.8944	10	0.21540	T	0.41	.	0.089	0.00038	0.326:0.2248:0.1687:0.2804	.	1386	Q9NY15	STAB1_HUMAN	G	1386	ENSP00000312946:A1386G	ENSP00000312946:A1386G	A	+	2	0	STAB1	52525424	0.043000	0.20138	0.972000	0.41901	0.908000	0.53690	-0.130000	0.10498	-0.051000	0.13334	0.462000	0.41574	GCC	STAB1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000010327		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	45	0.00	0	C	NM_015136		52550384	52550384	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.717	G
STS	412	genome.wustl.edu	37	X	7252144	7252144	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:7252144G>A	ENST00000217961.4	+	9	1594	c.1374G>A	c.(1372-1374)caG>caA	p.Q458Q		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	458					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GGCACCCTCAGAACAGTGAGT	0.478									Ichthyosis																													dbGAP											0													130.0	112.0	118.0					X																	7252144		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1374G>A	X.37:g.7252144G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA47	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.Q458	ENST00000217961.4	37	c.1374	CCDS14127.1	X																																																																																			STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000101846		0.478	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	27	0.00	0	G	NM_000351		7252144	7252144	+1	no_errors	ENST00000217961	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.004	A
SUDS3	64426	genome.wustl.edu	37	12	118852239	118852239	+	3'UTR	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:118852239C>G	ENST00000543473.1	+	0	1300				SUDS3_ENST00000397564.2_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)						apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGCTTGACTTTCTACAGT	0.468																																						dbGAP											0													24.0	23.0	23.0					12																	118852239		1859	4096	5955	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.*1C>G	12.37:g.118852239C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMQ5|Q8N6H0|Q9H8D2	RNA	SNP	-	NULL	ENST00000543473.1	37	NULL	CCDS44993.1	12																																																																																			SUDS3	-	-	ENSG00000111707		0.468	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	HGNC	protein_coding	OTTHUMT00000401504.1	17	0.00	0	C	NM_022491		118852239	118852239	+1	no_errors	ENST00000541591	ensembl	human	known	69_37n	rna	31	24.39	10	SNP	0.798	G
SYNE1	23345	genome.wustl.edu	37	6	152451876	152451876	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr6:152451876G>A	ENST00000367255.5	-	145	26733	c.26132C>T	c.(26131-26133)tCt>tTt	p.S8711F	SYNE1_ENST00000354674.4_Missense_Mutation_p.S889F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8711F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8323F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S866F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8663F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3235F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8663F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8711	Ser-rich.				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)		ACTGCTGACAGAGGGTCCAGG	0.478										HNSCC(10;0.0054)																												dbGAP											0													143.0	124.0	130.0					6																	152451876		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.26132C>T	6.37:g.152451876G>A	ENSP00000356224:p.Ser8711Phe	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.S8711F	ENST00000367255.5	37	c.26132	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088745	0.76756	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	T;T;T;T;T;T;T;T	0.56275	0.57;4.62;0.57;0.47;0.57;0.67;2.58;4.63	5.42	5.42	0.78866	.	0.000000	0.52532	D	0.000069	T	0.68265	0.2982	M	0.69823	2.125	0.54753	D	0.999985	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.70487	0.931;0.931;0.969	T	0.70887	-0.4750	10	0.87932	D	0	.	19.5706	0.95413	0.0:0.0:1.0:0.0	.	8711;8711;8663	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	8711;866;8663;8711;8663;8323;3235;896;891;889	ENSP00000356224:S8711F;ENSP00000441052:S866F;ENSP00000396024:S8663F;ENSP00000265368:S8711F;ENSP00000390975:S8663F;ENSP00000341887:S8323F;ENSP00000349276:S3235F;ENSP00000346701:S889F	ENSP00000265368:S8711F	S	-	2	0	SYNE1	152493569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.455000	0.80726	2.698000	0.92095	0.655000	0.94253	TCT	SYNE1	-	NULL	ENSG00000131018		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	33	0.00	0	G	NM_182961		152451876	152451876	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	A
SYT9	143425	genome.wustl.edu	37	11	7324494	7324494	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr11:7324494G>T	ENST00000318881.6	+	2	607	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	SYT9_ENST00000396716.2_Missense_Mutation_p.D92Y	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	124					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GCCCTGCCCTGACTCCTCCAT	0.582																																						dbGAP											0													102.0	83.0	89.0					11																	7324494		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.370G>T	11.37:g.7324494G>T	ENSP00000324419:p.Asp124Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D124Y	ENST00000318881.6	37	c.370	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759221	0.69763	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.57436	0.4;0.46	5.73	5.73	0.89815	.	0.086427	0.53938	D	0.000057	T	0.44871	0.1314	N	0.22421	0.69	0.58432	D	0.999996	P	0.47841	0.901	B	0.42738	0.396	T	0.50591	-0.8810	10	0.87932	D	0	.	17.3871	0.87420	0.0:0.0:1.0:0.0	.	124	Q86SS6	SYT9_HUMAN	Y	92;124	ENSP00000379944:D92Y;ENSP00000324419:D124Y	ENSP00000324419:D124Y	D	+	1	0	SYT9	7281070	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.311000	0.96282	2.698000	0.92095	0.655000	0.94253	GAC	SYT9	-	NULL	ENSG00000170743		0.582	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	36	0.00	0	G	NM_175733		7324494	7324494	+1	no_errors	ENST00000318881	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
TACR1	6869	genome.wustl.edu	37	2	75425872	75425872	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr2:75425872C>T	ENST00000305249.5	-	1	954	c.189G>A	c.(187-189)atG>atA	p.M63I	TACR1_ENST00000409848.3_Missense_Mutation_p.M63I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	63					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCACTGTCCTCATTCTTTTGT	0.517																																					Pancreas(64;62 1268 3653 14826 43765)	dbGAP											0													164.0	137.0	146.0					2																	75425872		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.189G>A	2.37:g.75425872C>T	ENSP00000303522:p.Met63Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K150	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.M63I	ENST00000305249.5	37	c.189	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936802	0.92458	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.38077	1.16;1.16	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76680	-0.2870	10	0.87932	D	0	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	63	P25103	NK1R_HUMAN	I	63	ENSP00000303522:M63I;ENSP00000386448:M63I	ENSP00000303522:M63I	M	-	3	0	TACR1	75279380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.854000	0.98071	0.655000	0.94253	ATG	TACR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Neurokn_rcpt,prints_NPY_rcpt	ENSG00000115353		0.517	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	64	0.00	0	C	NM_001058		75425872	75425872	-1	no_errors	ENST00000305249	ensembl	human	known	69_37n	missense	49	26.87	18	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32632175	32632175	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr9:32632175G>C	ENST00000242310.4	-	1	3492	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1135					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q1135E(1)|p.Q1135*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTGACAGCTGAGAGCTGGTT	0.468																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|breast(1)											217.0	171.0	186.0					9																	32632175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3403C>G	9.37:g.32632175G>C	ENSP00000418379:p.Gln1135Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.Q1135E	ENST00000242310.4	37	c.3403	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280697	0.40294	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.45698	1.435	0.50171	D	0.999858	B	0.19200	0.034	B	0.17098	0.017	T	0.22068	-1.0227	10	0.39692	T	0.17	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1135	Q8IZX4	TAF1L_HUMAN	E	1135	ENSP00000418379:Q1135E	ENSP00000418379:Q1135E	Q	-	1	0	TAF1L	32622175	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CAG	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	84	0.00	0	G			32632175	32632175	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	46	33.33	23	SNP	1.000	C
TCHH	7062	genome.wustl.edu	37	1	152081408	152081408	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:152081408C>T	ENST00000368804.1	-	2	4284	c.4285G>A	c.(4285-4287)Gac>Aac	p.D1429N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1429	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTTCTGTCACGCTCTTGG	0.597											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										dbGAP											0													87.0	87.0	87.0					1																	152081408		1898	4108	6006	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4285G>A	1.37:g.152081408C>T	ENSP00000357794:p.Asp1429Asn	Somatic	1745	WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.D1429N	ENST00000368804.1	37	c.4285	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	13.33	2.204017	0.38905	.	.	ENSG00000159450	ENST00000368804	T	0.06294	3.32	3.65	3.65	0.41850	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	0.09310	N	1	B	0.30281	0.275	B	0.30029	0.11	T	0.41770	-0.9490	9	0.23891	T	0.37	.	6.8633	0.24079	0.0:0.8741:0.0:0.1259	.	1429	Q07283	TRHY_HUMAN	N	1429	ENSP00000357794:D1429N	ENSP00000357794:D1429N	D	-	1	0	TCHH	150348032	0.001000	0.12720	0.876000	0.34364	0.450000	0.32258	0.129000	0.15830	1.879000	0.54435	0.514000	0.50259	GAC	TCHH	-	NULL	ENSG00000159450		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	97	0.00	0	C	NM_007113		152081408	152081408	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	135	12.90	20	SNP	0.155	T
TEX11	56159	genome.wustl.edu	37	X	69772023	69772023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:69772023C>A	ENST00000395889.2	-	29	2673	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.E825*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E840*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.E515*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	840					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCCCAAACTTCTTCCAGGGGA	0.403																																						dbGAP											0													81.0	71.0	75.0					X																	69772023		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2518G>T	X.37:g.69772023C>A	ENSP00000379226:p.Glu840*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.E840*	ENST00000395889.2	37	c.2518	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.108059	0.98070	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	4.96	4.96	0.65561	.	0.219317	0.37483	N	0.002063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1111	14.5001	0.67716	0.0:1.0:0.0:0.0	.	.	.	.	X	825;840;515;840	.	.	E	-	1	0	TEX11	69688748	1.000000	0.71417	0.317000	0.25265	0.778000	0.44026	5.799000	0.69101	2.298000	0.77334	0.600000	0.82982	GAA	TEX11	-	NULL	ENSG00000120498		0.403	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	39	0.00	0	C			69772023	69772023	-1	no_errors	ENST00000344304	ensembl	human	known	69_37n	nonsense	29	29.27	12	SNP	0.985	A
TEX15	56154	genome.wustl.edu	37	8	30694361	30694361	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr8:30694361G>A	ENST00000256246.2	-	3	8364	c.8290C>T	c.(8290-8292)Ctt>Ttt	p.L2764F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2764					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CGATTAGGAAGGTAAGGGTAT	0.378																																						dbGAP											0													125.0	125.0	125.0					8																	30694361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8290C>T	8.37:g.30694361G>A	ENSP00000256246:p.Leu2764Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L2764F	ENST00000256246.2	37	c.8290	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	8.391	0.839790	0.16891	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	5.6	2.76	0.32466	.	0.276731	0.26383	N	0.024681	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	P	0.49447	0.924	B	0.41036	0.346	T	0.25293	-1.0136	10	0.87932	D	0	.	6.6944	0.23191	0.2985:0.0:0.7015:0.0	.	2764	Q9BXT5	TEX15_HUMAN	F	2764	ENSP00000256246:L2764F	ENSP00000256246:L2764F	L	-	1	0	TEX15	30813903	0.953000	0.32496	0.395000	0.26283	0.234000	0.25298	2.405000	0.44548	0.800000	0.34041	0.650000	0.86243	CTT	TEX15	-	NULL	ENSG00000133863		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	48	0.00	0	G			30694361	30694361	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	0.022	A
TMX1	81542	genome.wustl.edu	37	14	51707049	51707049	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:51707049C>G	ENST00000457354.2	+	1	164	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	13					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CCCTGGCAGTCCTGGTGCTGT	0.662																																						dbGAP											0													54.0	61.0	59.0					14																	51707049		2022	4169	6191	-	-	-	SO:0001819	synonymous_variant	0			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.39C>G	14.37:g.51707049C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.V13	ENST00000457354.2	37	c.39	CCDS41953.1	14																																																																																			TMX1	-	NULL	ENSG00000139921		0.662	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX1	HGNC	protein_coding	OTTHUMT00000411206.1	32	0.00	0	C	NM_030755		51707049	51707049	+1	no_errors	ENST00000457354	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.000	G
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	40	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	T
TRBV6-5	28602	genome.wustl.edu	37	7	142180532	142180532	+	RNA	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:142180532G>A	ENST00000390368.2	-	0	392									T cell receptor beta variable 6-5																		TGCTGGCACAGAAGTACACAG	0.572																																						dbGAP											0													227.0	228.0	227.0					7																	142180532		1974	4175	6149	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180532G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F109	ENST00000390368.2	37	c.327		7																																																																																			TRBV6-5	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211721		0.572	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV6-5	HGNC	TR_V_gene	OTTHUMT00000351225.1	83	0.00	0	G	NG_001333		142180532	142180532	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390368	ensembl	human	known	69_37n	silent	66	19.51	16	SNP	1.000	A
TRIM41	90933	genome.wustl.edu	37	5	180651357	180651357	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:180651357A>G	ENST00000315073.5	+	1	1068	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.M120V|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	120	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGACAACATGGACTATGT	0.592																																						dbGAP											0													187.0	179.0	182.0					5																	180651357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.358A>G	5.37:g.180651357A>G	ENSP00000320869:p.Met120Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.M120V	ENST00000315073.5	37	c.358	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	A	5.366	0.252821	0.10185	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.51574	1.16;0.7	4.64	4.64	0.57946	Zinc finger, RING-type (1);	0.000000	0.52532	D	0.000073	T	0.35970	0.0950	N	0.17082	0.46	0.27121	N	0.962141	B;P;P	0.36171	0.406;0.541;0.541	B;B;B	0.40444	0.176;0.329;0.329	T	0.36529	-0.9744	10	0.56958	D	0.05	.	12.0693	0.53607	1.0:0.0:0.0:0.0	.	120;120;120	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	V	120	ENSP00000336749:M120V;ENSP00000320869:M120V	ENSP00000320869:M120V	M	+	1	0	TRIM41	180583963	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	0.720000	0.25896	1.945000	0.56424	0.402000	0.26972	ATG	TRIM41	-	smart_Znf_RING	ENSG00000146063		0.592	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	39	0.00	0	A	NM_201627		180651357	180651357	+1	no_errors	ENST00000315073	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	G
TUBG2	27175	genome.wustl.edu	37	17	40817562	40817562	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr17:40817562C>T	ENST00000251412.7	+	7	874	c.675C>T	c.(673-675)ttC>ttT	p.F225F	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	225					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACCCGTCCTTCTCCCAGATCA	0.617																																						dbGAP											0													157.0	147.0	151.0					17																	40817562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.675C>T	17.37:g.40817562C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDI4|Q32NB2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.F225	ENST00000251412.7	37	c.675	CCDS32658.1	17																																																																																			TUBG2	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Alpha_tubulin	ENSG00000037042		0.617	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	66	0.00	0	C	NM_016437		40817562	40817562	+1	no_errors	ENST00000251412	ensembl	human	known	69_37n	silent	20	41.18	14	SNP	1.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50659412	50659412	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr22:50659412G>C	ENST00000248846.5	-	16	3480	c.3376C>G	c.(3376-3378)Ccc>Gcc	p.P1126A	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.P1126A|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1126	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCTGGTGGGAGCCACATCT	0.627																																						dbGAP											0													163.0	160.0	161.0					22																	50659412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3376C>G	22.37:g.50659412G>C	ENSP00000248846:p.Pro1126Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.P1126A	ENST00000248846.5	37	c.3376	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	g	5.780	0.328307	0.10956	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.12147	3.09;2.71	4.95	1.57	0.23409	.	0.213542	0.30347	U	0.009828	T	0.12092	0.0294	L	0.52573	1.65	0.09310	N	1	B;B;B	0.29988	0.035;0.026;0.264	B;B;B	0.34038	0.088;0.022;0.174	T	0.21999	-1.0229	10	0.25106	T	0.35	.	7.3282	0.26567	0.1526:0.2602:0.5872:0.0	.	1118;1126;1126	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1126	ENSP00000248846:P1126A;ENSP00000397387:P1126A	ENSP00000248846:P1126A	P	-	1	0	TUBGCP6	49001539	0.000000	0.05858	0.344000	0.25628	0.015000	0.08874	-2.576000	0.00910	0.569000	0.29329	0.650000	0.86243	CCC	TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.627	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	36	0.00	0	G	NM_020461		50659412	50659412	-1	no_errors	ENST00000248846	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.011	C
UMPS	7372	genome.wustl.edu	37	3	124449396	124449396	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:124449396C>T	ENST00000232607.2	+	1	184	c.78C>T	c.(76-78)ttC>ttT	p.F26F	UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	26	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TTGGGGACTTCGTGCTGAAGA	0.597																																						dbGAP											0													95.0	89.0	91.0					3																	124449396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.78C>T	3.37:g.124449396C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Silent	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_clade-1	p.F26	ENST00000232607.2	37	c.78	CCDS3029.1	3																																																																																			UMPS	-	tigrfam_Or_phspho_trans_clade-1	ENSG00000114491		0.597	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	42	0.00	0	C	NM_000373		124449396	124449396	+1	no_errors	ENST00000232607	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	1.000	T
UNC13A	23025	genome.wustl.edu	37	19	17722612	17722612	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:17722612G>A	ENST00000519716.2	-	42	4610	c.4611C>T	c.(4609-4611)ttC>ttT	p.F1537F	CTD-3149D2.3_ENST00000600512.1_RNA|UNC13A_ENST00000550896.1_Silent_p.F1510F|UNC13A_ENST00000551649.1_Silent_p.F1556F|UNC13A_ENST00000552293.1_Silent_p.F1531F|UNC13A_ENST00000428389.2_Silent_p.F1625F|UNC13A_ENST00000252773.7_Silent_p.F1537F	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1537	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGGATGAGTGAACAGCTCAA	0.527																																						dbGAP											0													144.0	139.0	140.0					19																	17722612		2103	4268	6371	-	-	-	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4611C>T	19.37:g.17722612G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.F1625	ENST00000519716.2	37	c.4875	CCDS46013.2	19																																																																																			UNC13A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000130477		0.527	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	46	0.00	0	G	XM_038604		17722612	17722612	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	silent	57	26.92	21	SNP	1.000	A
URGCP	55665	genome.wustl.edu	37	7	43916676	43916676	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:43916676G>C	ENST00000453200.1	-	6	2879	c.2386C>G	c.(2386-2388)Cca>Gca	p.P796A	URGCP_ENST00000402306.3_Missense_Mutation_p.P787A|URGCP_ENST00000336086.6_Missense_Mutation_p.P753A|URGCP_ENST00000447717.3_Missense_Mutation_p.P753A|URGCP_ENST00000223341.7_Missense_Mutation_p.P753A|URGCP_ENST00000443736.1_Missense_Mutation_p.P753A|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	796	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATAGCTGCTGGAATGTCCTTG	0.498																																						dbGAP											0													118.0	114.0	115.0					7																	43916676		1989	4176	6165	-	-	-	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2386C>G	7.37:g.43916676G>C	ENSP00000396918:p.Pro796Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.P796A	ENST00000453200.1	37	c.2386	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565640	0.45694	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02	5.62	5.62	0.85841	.	0.263335	0.38164	N	0.001795	T	0.10766	0.0263	L	0.57536	1.79	0.09310	N	1	P;P	0.42871	0.792;0.792	B;B	0.40066	0.318;0.318	T	0.24693	-1.0153	10	0.46703	T	0.11	-25.7039	10.5614	0.45148	0.088:0.0:0.912:0.0	.	787;796	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	A	753;753;787;753;796;753	ENSP00000223341:P753A;ENSP00000336872:P753A;ENSP00000384955:P787A;ENSP00000392136:P753A;ENSP00000396918:P796A;ENSP00000402803:P753A	ENSP00000223341:P753A	P	-	1	0	URGCP	43883201	0.998000	0.40836	0.098000	0.21074	0.944000	0.59088	2.796000	0.47869	2.657000	0.90304	0.591000	0.81541	CCA	URGCP	-	NULL	ENSG00000106608		0.498	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	32	0.00	0	G	NM_001077664		43916676	43916676	-1	no_errors	ENST00000453200	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.047	C
URGCP	55665	genome.wustl.edu	37	7	43916993	43916993	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr7:43916993G>C	ENST00000453200.1	-	6	2562	c.2069C>G	c.(2068-2070)tCa>tGa	p.S690*	URGCP_ENST00000402306.3_Nonsense_Mutation_p.S681*|URGCP_ENST00000336086.6_Nonsense_Mutation_p.S647*|URGCP_ENST00000447717.3_Nonsense_Mutation_p.S647*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.S647*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.S647*|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	690	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCAGCCTTGACCGTCTCTC	0.632																																						dbGAP											0													33.0	35.0	35.0					7																	43916993		2121	4226	6347	-	-	-	SO:0001587	stop_gained	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2069C>G	7.37:g.43916993G>C	ENSP00000396918:p.Ser690*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Nonsense_Mutation	SNP	prints_GTP_binding_domain	p.S690*	ENST00000453200.1	37	c.2069	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.568629	0.98365	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	.	.	.	5.82	4.89	0.63831	.	0.487681	0.21884	N	0.067681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-13.5937	12.475	0.55807	0.0:0.2815:0.7185:0.0	.	.	.	.	X	647;647;681;647;690;647	.	ENSP00000223341:S647X	S	-	2	0	URGCP	43883518	0.121000	0.22262	0.623000	0.29173	0.507000	0.33981	2.587000	0.46128	2.761000	0.94854	0.655000	0.94253	TCA	URGCP	-	NULL	ENSG00000106608		0.632	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	13	0.00	0	G	NM_001077664		43916993	43916993	-1	no_errors	ENST00000453200	ensembl	human	known	69_37n	nonsense	8	33.33	4	SNP	0.000	C
VSIG10	54621	genome.wustl.edu	37	12	118511688	118511688	+	Silent	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:118511688C>T	ENST00000359236.5	-	5	1311	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	345	Ig-like C2-type 4.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TAAGGTTCCTCAGCCACAGGA	0.587																																						dbGAP											0													49.0	50.0	50.0					12																	118511688		1980	4173	6153	-	-	-	SO:0001819	synonymous_variant	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1035G>A	12.37:g.118511688C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L345	ENST00000359236.5	37	c.1035	CCDS44992.1	12																																																																																			VSIG10	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000176834		0.587	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	30	0.00	0	C	NM_019086		118511688	118511688	-1	no_errors	ENST00000359236	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.998	T
WNK3	65267	genome.wustl.edu	37	X	54263720	54263720	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:54263720C>T	ENST00000375159.2	-	19	4278	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K	WNK3_ENST00000375169.3_Missense_Mutation_p.E1380K|WNK3_ENST00000354646.2_Missense_Mutation_p.E1427K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1427					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACATCAGTCTCACAAGCTGCG	0.408																																						dbGAP											0													82.0	69.0	73.0					X																	54263720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4279G>A	X.37:g.54263720C>T	ENSP00000364301:p.Glu1427Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1427K	ENST00000375159.2	37	c.4279	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479301	0.63849	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71461	-0.57;-0.54;-0.54	5.33	3.48	0.39840	.	0.253330	0.28031	N	0.016871	T	0.69314	0.3097	L	0.32530	0.975	0.29391	N	0.862625	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.61272	-0.7096	10	0.05620	T	0.96	-2.3432	9.4288	0.38597	0.0:0.7767:0.1399:0.0834	.	1380;1427	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1380;1427;1427	ENSP00000364312:E1380K;ENSP00000346667:E1427K;ENSP00000364301:E1427K	ENSP00000346667:E1427K	E	-	1	0	WNK3	54280445	0.998000	0.40836	0.624000	0.29186	0.939000	0.58152	1.904000	0.39868	1.013000	0.39391	-0.208000	0.12717	GAG	WNK3	-	NULL	ENSG00000196632		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	53	0.00	0	C	NM_020922		54263720	54263720	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	1.000	T
XPOT	11260	genome.wustl.edu	37	12	64825441	64825441	+	Silent	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr12:64825441C>G	ENST00000332707.5	+	18	2629	c.2100C>G	c.(2098-2100)ctC>ctG	p.L700L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	700	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGGATATTCTCAGAAGTGGAG	0.418																																						dbGAP											0													95.0	85.0	88.0					12																	64825441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2100C>G	12.37:g.64825441C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L700	ENST00000332707.5	37	c.2100	CCDS31852.1	12																																																																																			XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.418	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	64	0.00	0	C	NM_007235		64825441	64825441	+1	no_errors	ENST00000332707	ensembl	human	known	69_37n	silent	61	26.51	22	SNP	1.000	G
YLPM1	56252	genome.wustl.edu	37	14	75285000	75285000	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr14:75285000G>T	ENST00000552421.1	+	15	4019	c.3895G>T	c.(3895-3897)Gat>Tat	p.D1299Y	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1770Y|YLPM1_ENST00000325680.7_Missense_Mutation_p.D2005Y			P49750	YLPM1_HUMAN	YLP motif containing 1	1810					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTGCTGCAAGATGCTGCTAT	0.373																																						dbGAP											0													124.0	116.0	119.0					14																	75285000		1926	4157	6083	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3895G>T	14.37:g.75285000G>T	ENSP00000447921:p.Asp1299Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D2005Y	ENST00000552421.1	37	c.6013		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.427303|4.427303	0.83667|0.83667	.|.	.|.	ENSG00000119596|ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879|ENST00000554107	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|T	0.69387|0.69387	0.3105|0.3105	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.989;0.998|.	D;D|.	0.77004|.	0.979;0.989|.	T|T	0.65425|0.65425	-0.6171|-0.6171	10|5	0.87932|.	D|.	0|.	-11.1553|-11.1553	19.2226|19.2226	0.93803|0.93803	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1810;2005|.	P49750-3;P49750-4|.	.;.|.	Y|I	1299;2005;1770;1718;414|36	ENSP00000447921:D1299Y;ENSP00000324463:D2005Y;ENSP00000448367:D414Y|.	ENSP00000238571:D1770Y|.	D|R	+|+	1|2	0|0	YLPM1|YLPM1	74354753|74354753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.548000|2.548000	0.85928|0.85928	0.650000|0.650000	0.86243|0.86243	GAT|AGA	YLPM1	-	NULL	ENSG00000119596		0.373	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	50	0.00	0	G	NM_019589		75285000	75285000	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	1.000	T
ZBTB8OS	339487	genome.wustl.edu	37	1	33099308	33099308	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:33099308G>A	ENST00000468695.1	-	4	319	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8OS_ENST00000373501.2_Silent_p.L89L	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	89					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGTGAAACAGAAGAGACTGT	0.313																																						dbGAP											0													52.0	54.0	53.0					1																	33099308		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"""archease"""	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.301C>T	1.37:g.33099308G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	pfam_Archease_dom,superfamily_Archease_dom	p.S99F	ENST00000468695.1	37	c.296	CCDS365.1	1	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116160	0.20795	.	.	ENSG00000176261	ENST00000436661	.	.	.	5.4	4.49	0.54785	.	.	.	.	.	T	0.60521	0.2275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58702	-0.7590	4	.	.	.	-12.8473	9.883	0.41245	0.1553:0.0:0.8447:0.0	.	.	.	.	F	99	.	.	S	-	2	0	ZBTB8OS	32871895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	1.428000	0.47296	0.655000	0.94253	TCT	ZBTB8OS	-	pfam_Archease_dom,superfamily_Archease_dom	ENSG00000176261		0.313	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8OS	HGNC	protein_coding	OTTHUMT00000021669.3	26	0.00	0	G	NM_178547		33099308	33099308	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436661	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72831445	72831445	+	Silent	SNP	C	C	T	rs561355331		TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr16:72831445C>T	ENST00000268489.5	-	9	5808	c.5136G>A	c.(5134-5136)cgG>cgA	p.R1712R	ZFHX3_ENST00000397992.5_Silent_p.R798R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1712					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGTTTCTTCCGATTGGCCT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21142	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													62.0	53.0	56.0					16																	72831445		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5136G>A	16.37:g.72831445C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R1712	ENST00000268489.5	37	c.5136	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.507	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	38	0.00	0	C	NM_006885		72831445	72831445	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	18	47.06	16	SNP	1.000	T
ZNF148	7707	genome.wustl.edu	37	3	124951819	124951819	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr3:124951819G>C	ENST00000360647.4	-	9	2236	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.S584*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.S584*|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.S584*|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	584					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AACATTCTCTGACGGGGTGAC	0.438																																						dbGAP											0													106.0	102.0	104.0					3																	124951819		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1751C>G	3.37:g.124951819G>C	ENSP00000353863:p.Ser584*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S584*	ENST00000360647.4	37	c.1751	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.167657	0.98686	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	.	.	.	4.67	3.79	0.43588	.	0.543604	0.19883	N	0.103938	.	.	.	.	.	.	0.52501	D	0.999951	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.851	12.9139	0.58195	0.0:0.0:0.7057:0.2943	.	.	.	.	X	584	.	ENSP00000353863:S584X	S	-	2	0	ZNF148	126434509	0.979000	0.34478	0.924000	0.36721	0.976000	0.68499	4.721000	0.61951	1.168000	0.42723	0.655000	0.94253	TCA	ZNF148	-	NULL	ENSG00000163848		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	38	0.00	0	G	NM_021964		124951819	124951819	-1	no_errors	ENST00000360647	ensembl	human	known	69_37n	nonsense	23	23.33	7	SNP	0.730	C
ZNF345	25850	genome.wustl.edu	37	19	37368402	37368402	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:37368402C>T	ENST00000529555.1	+	2	1458	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	ZNF345_ENST00000589046.1_Missense_Mutation_p.H224Y|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.H224Y			Q14585	ZN345_HUMAN	zinc finger protein 345	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGGCGGATTCATACTGGTGA	0.448																																						dbGAP											0													73.0	71.0	72.0					19																	37368402		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.670C>T	19.37:g.37368402C>T	ENSP00000431202:p.His224Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H224Y	ENST00000529555.1	37	c.670	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941552	0.73557	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.67523	-0.27;-0.27	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85932	0.5812	H	0.94503	3.545	0.35537	D	0.802696	D	0.89917	1.0	D	0.87578	0.998	D	0.92365	0.5900	9	0.87932	D	0	.	14.2701	0.66147	0.0:1.0:0.0:0.0	.	224	Q14585	ZN345_HUMAN	Y	224	ENSP00000431216:H224Y;ENSP00000431202:H224Y	ENSP00000431216:H224Y	H	+	1	0	ZNF345	42060242	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.006000	0.63978	2.280000	0.76307	0.561000	0.74099	CAT	ZNF345	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251247		0.448	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	45	0.00	0	C			37368402	37368402	+1	no_errors	ENST00000420450	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	T
ZNF227	7770	genome.wustl.edu	37	19	44740536	44740536	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:44740536G>A	ENST00000313040.7	+	6	2158	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	ZNF227_ENST00000589005.1_Silent_p.Q600Q|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Silent_p.Q600Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	651					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AATCCCATCAGAGAGTCCACA	0.473																																						dbGAP											0													62.0	63.0	63.0					19																	44740536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1953G>A	19.37:g.44740536G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU7|B7Z5P9	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.Q651	ENST00000313040.7	37	c.1953	CCDS12636.1	19																																																																																			ZNF227	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131115		0.473	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	49	0.00	0	G	NM_182490		44740536	44740536	+1	no_errors	ENST00000313040	ensembl	human	known	69_37n	silent	36	30.77	16	SNP	1.000	A
ZNF154	7710	genome.wustl.edu	37	19	58213789	58213789	+	Silent	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:58213789G>A	ENST00000512439.2	-	3	724	c.528C>T	c.(526-528)ctC>ctT	p.L176L	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.L176L|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	176					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(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATGGTCATTGAGACTGTAGC	0.453																																						dbGAP											0													192.0	190.0	191.0					19																	58213789		2162	4287	6449	-	-	-	SO:0001819	synonymous_variant	0			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.528C>T	19.37:g.58213789G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCY3|Q8IVG7|Q8NAR0	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.L176	ENST00000512439.2	37	c.528	CCDS42639.1	19																																																																																			ZNF154	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179909		0.453	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	48	0.00	0	G			58213789	58213789	-1	no_errors	ENST00000426889	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	0.002	A
ZNF366	167465	genome.wustl.edu	37	5	71756672	71756672	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr5:71756672C>T	ENST00000318442.5	-	2	1142	c.652G>A	c.(652-654)Gag>Aag	p.E218K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	218					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCTGGGGCTCGGCTTTCCGG	0.642																																						dbGAP											0													71.0	73.0	73.0					5																	71756672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.652G>A	5.37:g.71756672C>T	ENSP00000313158:p.Glu218Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E218K	ENST00000318442.5	37	c.652	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846497	0.51164	.	.	ENSG00000178175	ENST00000318442	T	0.08282	3.11	5.94	5.07	0.68467	.	0.183149	0.38217	N	0.001763	T	0.06826	0.0174	L	0.44542	1.39	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.41413	-0.9510	10	0.02654	T	1	-31.2417	11.0897	0.48108	0.0:0.859:0.0:0.141	.	218	Q8N895	ZN366_HUMAN	K	218	ENSP00000313158:E218K	ENSP00000313158:E218K	E	-	1	0	ZNF366	71792428	0.297000	0.24408	0.395000	0.26283	0.989000	0.77384	2.676000	0.46883	1.517000	0.48917	0.561000	0.74099	GAG	ZNF366	-	NULL	ENSG00000178175		0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	27	0.00	0	C			71756672	71756672	-1	no_errors	ENST00000318442	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.049	T
ZNF419	79744	genome.wustl.edu	37	19	58005018	58005018	+	Missense_Mutation	SNP	C	C	G			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:58005018C>G	ENST00000221735.7	+	5	1279	c.1093C>G	c.(1093-1095)Cat>Gat	p.H365D	ZNF419_ENST00000415379.2_Missense_Mutation_p.H319D|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.H333D|ZNF419_ENST00000424930.2_Missense_Mutation_p.H366D|ZNF419_ENST00000442920.2_Missense_Mutation_p.H352D|ZNF419_ENST00000354197.4_Missense_Mutation_p.H353D|ZNF419_ENST00000426954.2_Missense_Mutation_p.H353D			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTGGCGTGTTCATACTGGAGA	0.418																																						dbGAP											0													83.0	88.0	86.0					19																	58005018		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1093C>G	19.37:g.58005018C>G	ENSP00000221735:p.His365Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H366D	ENST00000221735.7	37	c.1096	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917266	0.33815	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85461	0.5702	H	0.96365	3.81	0.39750	D	0.971877	D;D;D;D;D;D;D	0.89917	0.96;0.989;0.996;0.989;1.0;0.995;1.0	D;D;D;D;D;D;D	0.91635	0.961;0.989;0.995;0.993;0.999;0.991;0.999	D	0.88854	0.3321	9	0.87932	D	0	.	11.2525	0.49034	0.0:1.0:0.0:0.0	.	319;319;352;353;366;333;365	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	D	340;366;353;353;352;366;333;319;365	ENSP00000388864:H366D;ENSP00000390916:H353D;ENSP00000346136:H353D;ENSP00000414709:H352D;ENSP00000299860:H333D;ENSP00000392129:H319D;ENSP00000221735:H365D	ENSP00000221735:H365D	H	+	1	0	ZNF419	62696830	0.998000	0.40836	0.407000	0.26434	0.150000	0.21749	3.790000	0.55461	1.301000	0.44836	0.205000	0.17691	CAT	ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105136		0.418	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	42	0.00	0	C	NM_024691		58005018	58005018	+1	no_errors	ENST00000424930	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	1.000	G
ZNF436	80818	genome.wustl.edu	37	1	23688993	23688993	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:23688993G>C	ENST00000314011.4	-	4	1018	c.882C>G	c.(880-882)atC>atG	p.I294M	ZNF436_ENST00000374608.3_Missense_Mutation_p.I294M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GATAGTGTTTGATGAGATCAG	0.527																																						dbGAP											0													121.0	115.0	117.0					1																	23688993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.882C>G	1.37:g.23688993G>C	ENSP00000313582:p.Ile294Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658I9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I294M	ENST00000314011.4	37	c.882	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328859	0.41197	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.17213	2.29;2.29	5.79	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.21590	0.0520	L	0.39085	1.19	0.28609	N	0.908769	D	0.57899	0.981	P	0.51266	0.664	T	0.02444	-1.1158	10	0.56958	D	0.05	-30.0013	12.9948	0.58640	0.0795:0.0:0.9205:0.0	.	294	Q9C0F3	ZN436_HUMAN	M	294	ENSP00000313582:I294M;ENSP00000363736:I294M	ENSP00000313582:I294M	I	-	3	3	ZNF436	23561580	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.636000	0.05465	2.739000	0.93911	0.655000	0.94253	ATC	ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125945		0.527	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	48	0.00	0	G	NM_030634		23688993	23688993	-1	no_errors	ENST00000314011	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	0.955	C
ZNF436	80818	genome.wustl.edu	37	1	23689523	23689523	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr1:23689523G>A	ENST00000314011.4	-	4	488	c.352C>T	c.(352-354)Cct>Tct	p.P118S	ZNF436_ENST00000374608.3_Missense_Mutation_p.P118S	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGTTGGAGAGGATAGCTTACC	0.453																																						dbGAP											0													184.0	176.0	179.0					1																	23689523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.352C>T	1.37:g.23689523G>A	ENSP00000313582:p.Pro118Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658I9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P118S	ENST00000314011.4	37	c.352	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	G	4.732	0.136067	0.09032	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.05855	3.38;3.56;3.38	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000018	T	0.03695	0.0105	N	0.08118	0	0.35228	D	0.776691	B	0.26081	0.141	B	0.18263	0.021	T	0.50294	-0.8845	10	0.18276	T	0.48	-15.4983	13.604	0.62037	0.0:0.1553:0.8446:0.0	.	118	Q9C0F3	ZN436_HUMAN	S	118	ENSP00000313582:P118S;ENSP00000363737:P118S;ENSP00000363736:P118S	ENSP00000313582:P118S	P	-	1	0	ZNF436	23562110	.	.	1.000000	0.80357	0.991000	0.79684	.	.	2.941000	0.99782	0.655000	0.94253	CCT	ZNF436	-	NULL	ENSG00000125945		0.453	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	55	0.00	0	G	NM_030634		23689523	23689523	-1	no_errors	ENST00000314011	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	1.000	A
ZNF518A	9849	genome.wustl.edu	37	10	97918159	97918159	+	RNA	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr10:97918159G>A	ENST00000534948.1	+	0	2937							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTCAAAACCAGATAGCCTATT	0.333																																						dbGAP											0													78.0	75.0	76.0					10																	97918159		1833	4086	5919	-	-	-			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.333	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		16	0.00	0	G	NM_014803		97918159	97918159	+1	no_errors	ENST00000316045	ensembl	human	known	69_37n	rna	15	40.00	10	SNP	1.000	A
KRBOX4	55634	genome.wustl.edu	37	X	46322225	46322225	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chrX:46322225G>C	ENST00000344302.4	+	4	689	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	KRBOX4_ENST00000478600.1_Missense_Mutation_p.E20Q|KRBOX4_ENST00000487081.1_Missense_Mutation_p.E20Q|KRBOX4_ENST00000298190.6_Missense_Mutation_p.E20Q|KRBOX4_ENST00000360017.5_Missense_Mutation_p.E20Q|KRBOX4_ENST00000377919.2_Missense_Mutation_p.E20Q	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										CTTCACCCTGGAGGAGTGGCA	0.562																																						dbGAP											0													123.0	88.0	100.0					X																	46322225		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.58G>C	X.37:g.46322225G>C	ENSP00000345797:p.Glu20Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E20Q	ENST00000344302.4	37	c.58	CCDS48097.1	X	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736438	0.49045	.	.	ENSG00000147121	ENST00000344302;ENST00000360017;ENST00000298190;ENST00000377919;ENST00000476762;ENST00000478600;ENST00000487081;ENST00000397212	T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9	2.88	2.88	0.33553	Krueppel-associated box (4);	.	.	.	.	T	0.22085	0.0532	M	0.91663	3.23	0.22342	N	0.999188	D;D;D;D	0.89917	1.0;0.986;0.999;0.999	D;P;D;D	0.87578	0.996;0.887;0.998;0.994	T	0.02437	-1.1159	9	0.87932	D	0	.	10.9621	0.47391	0.0:0.0:1.0:0.0	.	20;20;20;20	Q5JUW0-3;C9J804;Q5JUW0;Q5JUW0-2	.;.;ZN673_HUMAN;.	Q	20	ENSP00000345797:E20Q;ENSP00000353113:E20Q;ENSP00000298190:E20Q;ENSP00000367152:E20Q;ENSP00000418205:E20Q;ENSP00000418146:E20Q;ENSP00000418076:E20Q	ENSP00000298190:E20Q	E	+	1	0	ZNF673	46207169	1.000000	0.71417	0.961000	0.40146	0.566000	0.35808	2.678000	0.46900	1.707000	0.51288	0.513000	0.50165	GAG	ZNF673	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000147121		0.562	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF673	HGNC	protein_coding	OTTHUMT00000056359.2	73	0.00	0	G	NM_017776		46322225	46322225	+1	no_errors	ENST00000344302	ensembl	human	known	69_37n	missense	45	32.84	22	SNP	0.991	C
ZNF790	388536	genome.wustl.edu	37	19	37310624	37310624	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:37310624G>A	ENST00000356725.4	-	5	742	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	208					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATCAGGAAGAAAGGTATTC	0.353																																						dbGAP											0													70.0	70.0	70.0					19																	37310624		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.622C>T	19.37:g.37310624G>A	ENSP00000349161:p.Leu208Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L208F	ENST00000356725.4	37	c.622	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	1.482	-0.557039	0.03967	.	.	ENSG00000197863	ENST00000356725	T	0.08458	3.09	3.07	-1.41	0.08941	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03608	0.0103	N	0.11106	0.095	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42965	-0.9420	9	0.32370	T	0.25	.	3.3803	0.07252	0.2379:0.0:0.268:0.4941	.	208	Q6PG37	ZN790_HUMAN	F	208	ENSP00000349161:L208F	ENSP00000349161:L208F	L	-	1	0	ZNF790	42002464	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-1.268000	0.02836	-0.298000	0.08921	0.313000	0.20887	CTT	ZNF790	-	pfscan_Znf_C2H2	ENSG00000197863		0.353	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	43	0.00	0	G	NM_206894		37310624	37310624	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.000	A
ZNF701	55762	genome.wustl.edu	37	19	53079190	53079190	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SI-01A-11D-A142-09	TCGA-A1-A0SI-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e218c272-a7e1-4bc9-b8c5-d2d1c903550f	fbcab9dc-4a6b-4928-9459-699c9932e3e1	g.chr19:53079190G>A	ENST00000540331.1	+	4	481	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ZNF701_ENST00000391785.3_Missense_Mutation_p.E20K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E86K|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTCTCTCAGGAGGAGTGGAA	0.463																																					NSCLC(89;451 1475 9611 20673 52284)	dbGAP											0													18.0	20.0	19.0					19																	53079190		2075	4064	6139	-	-	-	SO:0001583	missense	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.256G>A	19.37:g.53079190G>A	ENSP00000444339:p.Glu86Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E86K	ENST00000540331.1	37	c.256	CCDS54311.1	19	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696083	0.15106	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.03607	3.87;3.87;3.87	2.1	2.1	0.27182	Krueppel-associated box (4);	.	.	.	.	T	0.15478	0.0373	M	0.91972	3.26	0.09310	N	1	P;P	0.46952	0.887;0.77	P;B	0.52217	0.693;0.327	T	0.03221	-1.1059	9	0.54805	T	0.06	.	10.9181	0.47148	0.0:0.0:1.0:0.0	.	86;20	F5GZM6;Q9NV72	.;ZN701_HUMAN	K	20;86;86	ENSP00000375662:E20K;ENSP00000301093:E86K;ENSP00000444339:E86K	ENSP00000301093:E86K	E	+	1	0	ZNF701	57771002	0.984000	0.35163	0.035000	0.18076	0.014000	0.08584	2.214000	0.42853	0.990000	0.38787	0.289000	0.19496	GAG	ZNF701	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167562		0.463	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	30	0.00	0	G	NM_018260		53079190	53079190	+1	no_errors	ENST00000301093	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.310	A
