#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
C5orf15	56951	genome.wustl.edu	37	5	133295199	133295199	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:133295199G>C	ENST00000231512.3	-	2	854	c.652C>G	c.(652-654)Cac>Gac	p.H218D	C5orf15_ENST00000507191.1_5'Flank	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	218						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTTTTGTTGTGATATGTAATG	0.279													ENSG00000113583																																					0													37.0	40.0	39.0					5																	133295199		2203	4300	6503	SO:0001583	missense	0			-	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.652C>G	5.37:g.133295199G>C	ENSP00000231512:p.His218Asp		B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	NULL	p.H218D	ENST00000231512.3	37	c.652	CCDS4167.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511640	0.85389	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.83018	0.5163	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84173	0.0435	9	0.72032	D	0.01	-19.534	18.9319	0.92570	0.0:0.0:1.0:0.0	.	218	Q8NC54	KCT2_HUMAN	D	218;118	.	ENSP00000231512:H218D	H	-	1	0	C5orf15	133323098	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.959000	0.93110	2.727000	0.93392	0.655000	0.94253	CAC	-	C5orf15	-	NULL		0.279	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf15	HGNC	protein_coding	OTTHUMT00000251175.1	0	0	0	116	116	92	0.00	0.00	G	NM_020199		133295199	-1	17	19	37	43	tier1	no_errors	ENST00000231512	ensembl	human	known	74_37	missense	31.48	29.69	SNP	1.000	C	17	37
TTK	7272	genome.wustl.edu	37	6	80737669	80737669	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr6:80737669C>T	ENST00000369798.2	+	13	1573	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TTK_ENST00000509894.1_Missense_Mutation_p.P487S|TTK_ENST00000230510.3_Missense_Mutation_p.P487S	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	488					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTATGGCCAACCTGCCTGTTT	0.343													ENSG00000112742																																					0													86.0	79.0	81.0					6																	80737669		2203	4300	6503	SO:0001583	missense	0			-		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1462C>T	6.37:g.80737669C>T	ENSP00000358813:p.Pro488Ser		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P488S	ENST00000369798.2	37	c.1462	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	C	0.369	-0.935199	0.02340	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.67865	-0.29;-0.29;-0.29	5.99	2.17	0.27698	.	1.596010	0.03078	N	0.158099	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.09509	-1.0671	10	0.08837	T	0.75	.	5.3844	0.16211	0.0:0.4997:0.2747:0.2256	.	488;487	P33981;A8K8U5	TTK_HUMAN;.	S	487;487;488	ENSP00000422936:P487S;ENSP00000230510:P487S;ENSP00000358813:P488S	ENSP00000230510:P487S	P	+	1	0	TTK	80794388	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.346000	0.19997	0.112000	0.17975	-0.140000	0.14226	CCT	-	TTK	-	NULL		0.343	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	0	0	0	79	79	104	0.00	0.00	C			80737669	+1	5	29	35	75	tier1	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	12.50	27.88	SNP	0.000	T	5	35
MS4A2	2206	genome.wustl.edu	37	11	59860903	59860903	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:59860903A>G	ENST00000278888.3	+	5	511	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	137					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAACACTGCCAGCAGCATAGC	0.468													ENSG00000149534																																					0													111.0	103.0	105.0					11																	59860903		2201	4295	6496	SO:0001583	missense	0			-	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.409A>G	11.37:g.59860903A>G	ENSP00000278888:p.Ser137Gly		Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.S137G	ENST00000278888.3	37	c.409	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282700	0.80692	.	.	ENSG00000149534	ENST00000278888	T	0.05447	3.44	4.33	3.16	0.36331	.	0.189494	0.52532	D	0.000063	T	0.26955	0.0660	M	0.92738	3.34	0.19945	N	0.999946	D;D	0.65815	0.995;0.99	D;D	0.69307	0.963;0.933	T	0.09400	-1.0676	10	0.66056	D	0.02	-21.7658	7.1361	0.25529	0.801:0.0:0.0:0.199	.	67;137	Q14298;Q01362	.;FCERB_HUMAN	G	137	ENSP00000278888:S137G	ENSP00000278888:S137G	S	+	1	0	MS4A2	59617479	0.946000	0.32159	0.201000	0.23476	0.893000	0.52053	2.116000	0.41930	0.946000	0.37632	0.528000	0.53228	AGC	-	MS4A2	-	pfam_CD20-like		0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	0	0	0	106	106	96	0.00	0.00	A			59860903	+1	12	29	20	39	tier1	no_errors	ENST00000278888	ensembl	human	known	74_37	missense	37.50	42.65	SNP	0.231	G	12	20
CALB1	793	genome.wustl.edu	37	8	91094268	91094268	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:91094268T>C	ENST00000265431.3	-	2	323	c.142A>G	c.(142-144)Aag>Gag	p.K48E	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	48					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCAGCCTTCTTTCGCGCCTGC	0.448													ENSG00000104327																									Melanoma(46;573 1182 27367 39727 48386)												0													114.0	122.0	119.0					8																	91094268		2203	4300	6503	SO:0001583	missense	0			-		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.142A>G	8.37:g.91094268T>C	ENSP00000265431:p.Lys48Glu		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K48E	ENST00000265431.3	37	c.142	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808786	0.70797	.	.	ENSG00000104327	ENST00000265431	D	0.90563	-2.69	5.48	5.48	0.80851	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.75447	2.3	0.80722	D	1	B	0.25235	0.121	B	0.34824	0.19	D	0.87468	0.2412	10	0.27082	T	0.32	-22.9155	13.3838	0.60785	0.0:0.0:0.0:1.0	.	48	P05937	CALB1_HUMAN	E	48	ENSP00000265431:K48E	ENSP00000265431:K48E	K	-	1	0	CALB1	91163444	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.192000	0.65115	2.215000	0.71742	0.460000	0.39030	AAG	-	CALB1	-	NULL		0.448	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	0	0	0	76	76	51	0.00	0.00	T	NM_004929		91094268	-1	5	4	11	12	tier1	no_errors	ENST00000265431	ensembl	human	known	74_37	missense	31.25	25.00	SNP	0.999	C	5	11
GANAB	23193	genome.wustl.edu	37	11	62400998	62400998	+	Intron	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:62400998G>T	ENST00000356638.3	-	6	577				GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000346178.4_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGAAGGTAGGAGAGCTGTCT	0.607													ENSG00000089597																									Melanoma(23;1005 1074 15747 18937)												0													70.0	66.0	68.0					11																	62400998		2202	4299	6501	SO:0001627	intron_variant	0			-	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.561-12C>A	11.37:g.62400998G>T			A6NC20|Q8WTS9|Q9P0X0	R	SNP	-	NULL	ENST00000356638.3	37	NULL	CCDS8026.1	11																																																																																			-	GAB	-	-		0.607	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB	HGNC	protein_coding	OTTHUMT00000395689.1	0	0	0	58	58	55	0.00	0.00	G	NM_198334		62400998	-1	4	14	16	51	tier1	no_errors	ENST00000534422	ensembl	human	known	74_37	rna	20.00	21.21	SNP	1.000	T	4	16
HPN	3249	genome.wustl.edu	37	19	35551321	35551321	+	Silent	SNP	G	G	A	rs35890010	byFrequency	TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:35551321G>A	ENST00000262626.2	+	8	1350	c.525G>A	c.(523-525)ccG>ccA	p.P175P	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Silent_p.P175P|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCGGTGGCCGTGGCAAGTCA	0.687													ENSG00000105707																																					0								G	,	3,4403	6.2+/-15.9	0,3,2200	62.0	71.0	68.0		525,525	-9.5	0.1	19	dbSNP_126	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPN	NM_002151.2,NM_182983.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	175/418,175/418	35551321	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.525G>A	19.37:g.35551321G>A			B2RDS4	Silent	SNP	pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P175	ENST00000262626.2	37	c.525	CCDS32993.1	19																																																																																			rs35890010	HPN	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.687	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	HGNC	protein_coding	OTTHUMT00000461573.1	0	0	0	93	93	15	0.00	0.00	G	NM_002151		35551321	+1	14	4	23	14	tier1	no_errors	ENST00000262626	ensembl	human	known	74_37	silent	37.84	22.22	SNP	0.003	A	14	23
SYT3	84258	genome.wustl.edu	37	19	51140536	51140536	+	Silent	SNP	G	G	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr19:51140536G>T	ENST00000338916.4	-	1	766	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	SYT3_ENST00000593901.1_Silent_p.R45R|SYT3_ENST00000600079.1_Silent_p.R45R|SYT3_ENST00000544769.1_Silent_p.R45R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	45					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCTGGACCCCGGGGATAGCCT	0.622													ENSG00000213023																																					0													73.0	71.0	72.0					19																	51140536		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.133C>A	19.37:g.51140536G>T			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R45	ENST00000338916.4	37	c.133	CCDS12798.1	19																																																																																			-	SYT3	-	NULL		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	0	0	0	128	128	45	0.00	0.00	G	NM_032298		51140536	-1	6	7	20	23	tier1	no_errors	ENST00000338916	ensembl	human	known	74_37	silent	23.08	23.33	SNP	1.000	T	6	20
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82.0	74.0	76.0					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1G>C	17.37:g.7578290C>G			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	Splice_Site	SNP	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	-	TP53	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	84	84	88	0.00	0.00	C	NM_000546	Intron	7578290	-1	22	86	11	44	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	66.67	66.15	SNP	1.000	G	22	11
DUOX2	50506	genome.wustl.edu	37	15	45400250	45400250	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45400250C>G	ENST00000603300.1	-	13	1771	c.1569G>C	c.(1567-1569)agG>agC	p.R523S	DUOX2_ENST00000389039.6_Missense_Mutation_p.R523S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	523	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACCCATTCCTGGTGTTCT	0.597													ENSG00000140279																																					0													75.0	78.0	77.0					15																	45400250		2198	4298	6496	SO:0001583	missense	0			-	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1569G>C	15.37:g.45400250C>G	ENSP00000475084:p.Arg523Ser		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.R523S	ENST00000603300.1	37	c.1569	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166685	0.38217	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.46	-0.274	0.12910	.	0.314447	0.38548	N	0.001642	T	0.41926	0.1180	M	0.62723	1.935	0.24048	N	0.996057	B;B	0.33345	0.048;0.409	B;B	0.36030	0.158;0.216	T	0.34304	-0.9834	9	0.25751	T	0.34	-11.6541	11.1514	0.48462	0.0:0.5097:0.0:0.4903	.	523;85	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	S	523	.	ENSP00000373691:R523S	R	-	3	2	DUOX2	43187542	0.001000	0.12720	0.940000	0.37924	0.859000	0.49053	-0.513000	0.06305	0.044000	0.15775	-0.128000	0.14901	AGG	-	DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		0	0	0	216	216	42	0.00	0.00	C	NM_014080		45400250	-1	10	6	105	35	tier1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	8.70	14.63	SNP	0.011	G	10	105
SCN2A	6326	genome.wustl.edu	37	2	166246020	166246020	+	Missense_Mutation	SNP	C	C	T	rs367833365		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr2:166246020C>T	ENST00000375437.2	+	27	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism). {ECO:0000269|PubMed:12610651}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGTTGAAACGCAAACAAGA	0.433													ENSG00000136531																																					0			GRCh37	CM034570	SCN2A	M		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	81.0	83.0		5704,5704,5704	5.9	1.0	2		83	0,8600		0,0,4300	no	missense,missense,missense	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1902/2006,1902/2006,1902/2006	166246020	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5704C>T	2.37:g.166246020C>T	ENSP00000364586:p.Arg1902Cys		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1902C	ENST00000375437.2	37	c.5704	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814541	0.50527	2.27E-4	0.0	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11	5.87	5.87	0.94306	.	0.113909	0.37261	N	0.002173	D	0.98362	0.9456	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.87578	0.865;0.998	D	0.98727	1.0711	10	0.66056	D	0.02	.	13.6126	0.62088	0.2709:0.7291:0.0:0.0	.	1902;1902	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1902	ENSP00000364586:R1902C;ENSP00000349973:R1902C;ENSP00000283256:R1902C;ENSP00000364576:R1902C	ENSP00000283256:R1902C	R	+	1	0	SCN2A	165954266	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.510000	0.45468	2.785000	0.95823	0.585000	0.79938	CGC	-	SCN2A	-	NULL		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	0	0	0	55	55	125	0.00	0.00	C	NM_021007		166246020	+1	7	12	21	79	tier1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	25.00	13.04	SNP	1.000	T	7	21
DUOX2	50506	genome.wustl.edu	37	15	45394058	45394058	+	Silent	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:45394058C>A	ENST00000603300.1	-	21	2986	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	DUOX2_ENST00000389039.6_Silent_p.L928L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	928	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CATGGTCCCGCAGCATGAAGT	0.582													ENSG00000140279																																					0													139.0	115.0	123.0					15																	45394058		2198	4298	6496	SO:0001819	synonymous_variant	0			-	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2784G>T	15.37:g.45394058C>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.L928	ENST00000603300.1	37	c.2784	CCDS10117.1	15																																																																																			-	DUOX2	-	NULL		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		0	0	0	86	86	51	0.00	0.00	C	NM_014080		45394058	-1	8	7	28	55	tier1	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	22.22	11.29	SNP	1.000	A	8	28
TMEM108	66000	genome.wustl.edu	37	3	133109090	133109090	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:133109090G>A	ENST00000321871.6	+	5	1727	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	TMEM108_ENST00000393130.3_Missense_Mutation_p.S506N|TMEM108_ENST00000508711.1_Missense_Mutation_p.S36N	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	506						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACAACCTGAGCTACTGGAAC	0.537													ENSG00000144868																																					0													371.0	341.0	351.0					3																	133109090		2203	4300	6503	SO:0001583	missense	0			-	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1517G>A	3.37:g.133109090G>A	ENSP00000324651:p.Ser506Asn		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.S506N	ENST00000321871.6	37	c.1517	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031718	0.75504	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.65916	-0.18;-0.18	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.79155	0.4398	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.87578	0.916;0.998	T	0.82028	-0.0660	10	0.87932	D	0	-14.7924	18.219	0.89895	0.0:0.0:1.0:0.0	.	36;506	B3KT64;Q6UXF1	.;TM108_HUMAN	N	506;506;36	ENSP00000324651:S506N;ENSP00000376838:S506N	ENSP00000324651:S506N	S	+	2	0	TMEM108	134591780	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.404000	0.97306	2.288000	0.76882	0.655000	0.94253	AGC	-	TMEM108	-	NULL		0.537	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	0	0	0	63	63	165	0.00	0.00	G	NM_023943		133109090	+1	4	14	39	109	tier1	no_errors	ENST00000321871	ensembl	human	known	74_37	missense	9.30	11.38	SNP	1.000	A	4	39
MPDZ	8777	genome.wustl.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:13205963C>T	ENST00000319217.7	-	11	1673	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	MPDZ_ENST00000447879.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476I|MPDZ_ENST00000541718.1_Missense_Mutation_p.V476I|MPDZ_ENST00000536827.1_Missense_Mutation_p.V476I|MPDZ_ENST00000381015.4_Missense_Mutation_p.V476I|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.V476I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418													ENSG00000107186																																					2	Substitution - Missense(2)	lung(2)											204.0	190.0	195.0					9																	13205963		1924	4142	6066	SO:0001583	missense	0			-	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1426G>A	9.37:g.13205963C>T	ENSP00000320006:p.Val476Ile		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V476I	ENST00000319217.7	37	c.1426		9	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496931	0.26861	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10960	2.88;2.84;2.84;2.82;2.87;2.88;2.89	6.17	-3.11	0.05299	.	0.783752	0.10770	N	0.636105	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.08055	0.001;0.002;0.003	T	0.43475	-0.9389	10	0.18710	T	0.47	.	7.6992	0.28613	0.0:0.4327:0.1051:0.4622	.	476;476;476	B7ZMI4;O75970-3;O75970-2	.;.;.	I	476	ENSP00000320006:V476I;ENSP00000439807:V476I;ENSP00000370410:V476I;ENSP00000444151:V476I;ENSP00000415208:V476I;ENSP00000370403:V476I;ENSP00000446358:V476I	ENSP00000320006:V476I	V	-	1	0	MPDZ	13195963	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.095000	0.01350	-1.007000	0.03408	-0.812000	0.03155	GTC	-	MPDZ	-	superfamily_PDZ		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	0	0	1	65	65	69	0.00	1.43	C	NM_003829		13205963	-1	11	23	27	31	tier1	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	28.95	42.59	SNP	0.000	T	11	27
KRT82	3888	genome.wustl.edu	37	12	52797693	52797693	+	Splice_Site	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:52797693C>A	ENST00000257974.2	-	2	489	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	138	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGAAACGGACCTGCAGCCAA	0.542													ENSG00000161850																																					0													30.0	27.0	28.0					12																	52797693		2203	4300	6503	SO:0001630	splice_region_variant	0			-	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.412-1G>T	12.37:g.52797693C>A				Missense_Mutation	SNP	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.V138F	ENST00000257974.2	37	c.412	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903610	0.72754	.	.	ENSG00000161850	ENST00000257974	D	0.95885	-3.84	5.14	5.14	0.70334	Filament (1);	0.000000	0.45361	D	0.000379	D	0.98701	0.9564	H	0.97732	4.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	.	18.9829	0.92761	0.0:1.0:0.0:0.0	.	138	Q9NSB4	KRT82_HUMAN	F	138	ENSP00000257974:V138F	ENSP00000257974:V138F	V	-	1	0	KRT82	51083960	1.000000	0.71417	0.996000	0.52242	0.342000	0.28953	7.557000	0.82243	2.569000	0.86673	0.462000	0.41574	GTC	-	KRT82	-	pfam_IF		0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	0	0	0	43	43	77	0.00	0.00	C	NM_033033	Missense_Mutation	52797693	-1	3	7	12	45	tier1	no_errors	ENST00000257974	ensembl	human	known	74_37	missense	20.00	13.46	SNP	1.000	A	3	12
SPTB	6710	genome.wustl.edu	37	14	65234023	65234023	+	Silent	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr14:65234023A>T	ENST00000389721.5	-	30	6299	c.6267T>A	c.(6265-6267)acT>acA	p.T2089T	SPTB_ENST00000389720.3_Intron|SPTB_ENST00000389722.3_Silent_p.T2089T|SPTB_ENST00000556626.1_Silent_p.T2089T|SPTB_ENST00000542895.1_Silent_p.T2089T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2089					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACTCACCCAGTCTCCTCTG	0.567													ENSG00000070182																																					0													178.0	176.0	177.0					14																	65234023		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6267T>A	14.37:g.65234023A>T			Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T2089	ENST00000389721.5	37	c.6267	CCDS32100.1	14																																																																																			-	SPTB	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.567	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	0	0	0	81	81	78	0.00	0.00	A			65234023	-1	4	12	26	42	tier1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	13.33	22.22	SNP	0.838	T	4	26
KIAA1429	25962	genome.wustl.edu	37	8	95556150	95556150	+	Silent	SNP	C	C	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:95556150C>A	ENST00000297591.5	-	2	159	c.84G>T	c.(82-84)gtG>gtT	p.V28V	AC023632.1_ENST00000391679.1_5'Flank|KIAA1429_ENST00000421249.2_Silent_p.V28V|KIAA1429_ENST00000437199.1_Silent_p.V28V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	28					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAAAACGAACCACATCTATAT	0.408													ENSG00000164944																																					0													122.0	137.0	132.0					8																	95556150		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.84G>T	8.37:g.95556150C>A			Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	superfamily_ARM-type_fold	p.V28	ENST00000297591.5	37	c.84	CCDS34923.1	8																																																																																			-	KIAA1429	-	NULL		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	0	0	1	94	94	95	0.00	1.04	C	NM_015496		95556150	-1	6	12	36	71	tier1	no_errors	ENST00000297591	ensembl	human	known	74_37	silent	14.29	14.29	SNP	1.000	A	6	36
ATP13A2	23400	genome.wustl.edu	37	1	17322893	17322893	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:17322893G>A	ENST00000326735.8	-	13	1327	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	ATP13A2_ENST00000341676.5_Missense_Mutation_p.L427F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_Intron|ATP13A2_ENST00000452699.1_Missense_Mutation_p.L427F			Q9NQ11	AT132_HUMAN	ATPase type 13A2	432					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGACAGAGAGGGCAGCCACA	0.607													ENSG00000159363																																					0													75.0	83.0	80.0					1																	17322893		2203	4300	6503	SO:0001583	missense	0			-	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1294C>T	1.37:g.17322893G>A	ENSP00000327214:p.Leu432Phe		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.L432F	ENST00000326735.8	37	c.1294	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458567	0.84317	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.69	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.988;0.991;1.0;1.0	P;D;D;D	0.97110	0.893;0.961;1.0;0.999	D	0.98247	1.0491	10	0.87932	D	0	-25.9236	16.1502	0.81611	0.0:0.0:1.0:0.0	.	145;427;427;432	Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;AT132_HUMAN	F	432;427;427;146	ENSP00000327214:L432F;ENSP00000341115:L427F;ENSP00000413307:L427F;ENSP00000424393:L146F	ENSP00000327214:L432F	L	-	1	0	ATP13A2	17195480	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.733000	0.55029	2.141000	0.66446	0.561000	0.74099	CTC	-	ATP13A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	0	0	0	215	215	38	0.00	0.00	G	NM_022089		17322893	-1	23	9	63	26	tier1	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	26.74	25.71	SNP	1.000	A	23	63
DOCK7	85440	genome.wustl.edu	37	1	63097073	63097073	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:63097073T>C	ENST00000340370.5	-	11	1137	c.1120A>G	c.(1120-1122)Aaa>Gaa	p.K374E	DOCK7_ENST00000404627.2_Missense_Mutation_p.K374E|DOCK7_ENST00000251157.5_Missense_Mutation_p.K374E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	374					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTTTTTCTTTATTCTGCAAA	0.333													ENSG00000116641																																					0													45.0	43.0	43.0					1																	63097073		2202	4300	6502	SO:0001583	missense	0			-		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1120A>G	1.37:g.63097073T>C	ENSP00000340742:p.Lys374Glu		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K374E	ENST00000340370.5	37	c.1120	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548591	0.86127	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.40225	1.04;1.04;1.04	4.87	4.87	0.63330	.	0.047644	0.85682	D	0.000000	T	0.43233	0.1238	L	0.45698	1.435	0.80722	D	1	D;P;D;D;D	0.71674	0.985;0.875;0.997;0.998;0.991	P;P;D;D;D	0.85130	0.867;0.729;0.984;0.997;0.954	T	0.26608	-1.0098	10	0.15066	T	0.55	.	14.6312	0.68657	0.0:0.0:0.0:1.0	.	374;374;374;374;374	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	E	374	ENSP00000251157:K374E;ENSP00000340742:K374E;ENSP00000384446:K374E	ENSP00000251157:K374E	K	-	1	0	DOCK7	62869661	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.864000	0.87037	2.033000	0.60031	0.528000	0.53228	AAA	-	DOCK7	-	NULL		0.333	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	0	0	0	48	48	78	0.00	0.00	T	NM_033407		63097073	-1	7	33	23	80	tier1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	23.33	29.20	SNP	1.000	C	7	23
NOP2	4839	genome.wustl.edu	37	12	6671112	6671112	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:6671112A>T	ENST00000322166.5	-	10	1125	c.1004T>A	c.(1003-1005)cTg>cAg	p.L335Q	NOP2_ENST00000399466.2_Missense_Mutation_p.L331Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.L335Q|NOP2_ENST00000382421.3_Missense_Mutation_p.L368Q|NOP2_ENST00000541778.1_Missense_Mutation_p.L331Q|NOP2_ENST00000545200.1_Missense_Mutation_p.L331Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	335					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGGGATCCAGGTTAACCCC	0.473													ENSG00000111641																																					0													79.0	80.0	80.0					12																	6671112		1904	4122	6026	SO:0001583	missense	0			-		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1004T>A	12.37:g.6671112A>T	ENSP00000313272:p.Leu335Gln		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rR_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.L335Q	ENST00000322166.5	37	c.1004	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618051	0.87359	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.80120	-0.1515	10	0.87932	D	0	-3.1253	15.2651	0.73654	1.0:0.0:0.0:0.0	.	331;331	Q05BA7;P46087-2	.;.	Q	335;368;331;331;335;331;211	ENSP00000444437:L335Q;ENSP00000371858:L368Q;ENSP00000439422:L331Q;ENSP00000382392:L331Q;ENSP00000313272:L335Q;ENSP00000443150:L331Q;ENSP00000440754:L211Q	ENSP00000313272:L335Q	L	-	2	0	NOP2	6541373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.441000	0.80485	1.998000	0.58463	0.533000	0.62120	CTG	-	NOP2	-	pfam_Fmu/NOL1/Nop2p,tigrfam_Nop2p		0.473	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	0	0	0	120	120	104	0.00	0.00	A	NM_006170		6671112	-1	9	18	34	62	tier1	no_errors	ENST00000322166	ensembl	human	known	74_37	missense	20.93	22.50	SNP	1.000	T	9	34
IRX4	50805	genome.wustl.edu	37	5	1879802	1879802	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:1879802C>T	ENST00000505790.1	-	5	1008	c.552G>A	c.(550-552)atG>atA	p.M184I	IRX4_ENST00000231357.2_Missense_Mutation_p.M184I|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.M184I	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	184					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGTGAGGGTCATCTTGGTGA	0.627													ENSG00000113430																																					0													182.0	136.0	151.0					5																	1879802		2203	4300	6503	SO:0001583	missense	0			-	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.552G>A	5.37:g.1879802C>T	ENSP00000423161:p.Met184Ile		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.M184I	ENST00000505790.1	37	c.552	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637410	0.87760	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;D	0.91068	-1.72;-1.72;-1.72;-2.78	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	L	0.35644	1.08	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	D	0.93746	0.7054	10	0.87932	D	0	-23.5184	16.0968	0.81132	0.0:1.0:0.0:0.0	.	184	P78413	IRX4_HUMAN	I	184;184;184;210	ENSP00000231357:M184I;ENSP00000423161:M184I;ENSP00000424235:M184I;ENSP00000421772:M210I	ENSP00000231357:M184I	M	-	3	0	IRX4	1932802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	2.067000	0.61834	0.462000	0.41574	ATG	-	IRX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.627	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	0	0	0	135	135	49	0.00	0.00	C	NM_016358		1879802	-1	21	13	78	41	tier1	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	21.21	24.07	SNP	1.000	T	21	78
SPAG11B	10407	genome.wustl.edu	37	8	7315547	7315547	+	Intron	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr8:7315547A>G	ENST00000297498.2	-	2	381				AC130360.1_ENST00000401375.1_RNA|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		aaaaaccacaattacttttgt	0.353													ENSG00000216194																																					0																																										SO:0001627	intron_variant	0			-	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.214+4681T>C	8.37:g.7315547A>G			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	R	SNP	-	NULL	ENST00000297498.2	37	NULL	CCDS5966.1	8																																																																																			-	AC130360.1	-	-		0.353	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	ENSG00000216194	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000251390.2	0	0	0	174	174	22	0.00	0.00	A	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7315547	+1	7	2	52	11	tier1	no_errors	ENST00000401375	ensembl	human	novel	74_37	rna	11.86	15.38	SNP	0.007	G	7	52
ATP11A	23250	genome.wustl.edu	37	13	113473690	113473690	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr13:113473690G>A	ENST00000487903.1	+	7	731	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ATP11A_ENST00000283558.8_Missense_Mutation_p.E215K|ATP11A_ENST00000375645.3_Missense_Mutation_p.E215K|ATP11A_ENST00000375630.2_Missense_Mutation_p.E215K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	215					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGCCACCATCGAGTGTGAGCA	0.517													ENSG00000068650																																					0													89.0	80.0	83.0					13																	113473690		2203	4300	6503	SO:0001583	missense	0			-	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.643G>A	13.37:g.113473690G>A	ENSP00000420387:p.Glu215Lys		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E215K	ENST00000487903.1	37	c.643	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.371586	0.95923	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.46063	0.89;0.88;0.89;0.89	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	L	0.58925	1.835	0.80722	D	1	D;D;P	0.89917	1.0;0.995;0.884	D;D;P	0.97110	1.0;0.934;0.832	T	0.56353	-0.7993	10	0.30078	T	0.28	.	19.0413	0.93000	0.0:0.0:1.0:0.0	.	215;215;215	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	K	215	ENSP00000420387:E215K;ENSP00000364781:E215K;ENSP00000364796:E215K;ENSP00000283558:E215K	ENSP00000283558:E215K	E	+	1	0	ATP11A	112521691	1.000000	0.71417	0.939000	0.37840	0.597000	0.36814	9.315000	0.96313	2.489000	0.83994	0.655000	0.94253	GAG	-	ATP11A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.517	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	0	0	0	95	95	82	0.00	0.00	G	NM_015205		113473690	+1	10	16	33	80	tier1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	23.26	16.67	SNP	1.000	A	10	33
MAPK8IP3	23162	genome.wustl.edu	37	16	1812437	1812437	+	Missense_Mutation	SNP	G	G	A	rs62040026		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr16:1812437G>A	ENST00000250894.4	+	14	1779	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R535Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	541					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TACAAGGAGCGGCTGATGGAG	0.667													ENSG00000138834																																					0													50.0	63.0	58.0					16																	1812437		2159	4274	6433	SO:0001583	missense	0			-	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1622G>A	16.37:g.1812437G>A	ENSP00000250894:p.Arg541Gln		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R541Q	ENST00000250894.4	37	c.1622	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	37	6.545660	0.97654	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.43294	0.95;0.95	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.996;0.977;0.998	P;P;D	0.77557	0.895;0.65;0.99	T	0.65496	-0.6154	10	0.87932	D	0	-33.0926	19.4876	0.95035	0.0:0.0:1.0:0.0	.	542;535;541	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	541;535	ENSP00000250894:R541Q;ENSP00000348290:R535Q	ENSP00000250894:R541Q	R	+	2	0	MAPK8IP3	1752438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.700000	0.92200	0.655000	0.94253	CGG	-	MAPK8IP3	-	NULL		0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	0	0	0	146	146	39	0.00	0.00	G	NM_001040439		1812437	+1	7	5	78	45	tier1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	8.24	10.00	SNP	1.000	A	7	78
ZZZ3	26009	genome.wustl.edu	37	1	78031789	78031789	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:78031789A>T	ENST00000370801.3	-	14	3019	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.D354E	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	848					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AATCACAGAAATCCAAAGACA	0.403													ENSG00000036549																																					0													64.0	60.0	61.0					1																	78031789		2203	4300	6503	SO:0001583	missense	0			-	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2544T>A	1.37:g.78031789A>T	ENSP00000359837:p.Asp848Glu		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.D848E	ENST00000370801.3	37	c.2544	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235229	0.58886	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.96685	-4.09;-4.09	5.23	0.0825	0.14429	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	M	0.92026	3.265	0.53688	D	0.999975	B;D;B	0.89917	0.008;1.0;0.069	B;D;B	0.91635	0.011;0.999;0.043	D	0.95409	0.8496	10	0.87932	D	0	.	5.7543	0.18164	0.6808:0.0:0.2033:0.1159	.	354;848;847	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	E	848;354	ENSP00000359837:D848E;ENSP00000359834:D354E	ENSP00000359834:D354E	D	-	3	2	ZZZ3	77804377	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.369000	0.44231	0.056000	0.16144	0.533000	0.62120	GAT	-	ZZZ3	-	pfam_Znf_ZZ,pfscan_Znf_ZZ		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	0	0	0	87	87	93	0.00	0.00	A	NM_015534		78031789	-1	29	22	62	85	tier1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	31.87	20.56	SNP	1.000	T	29	62
LCP2	3937	genome.wustl.edu	37	5	169720342	169720342	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr5:169720342T>A	ENST00000046794.5	-	2	728	c.113A>T	c.(112-114)aAg>aTg	p.K38M		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	38	SAM.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GATGTGGTACTTCTTCACTGC	0.517													ENSG00000043462																																					0													134.0	136.0	135.0					5																	169720342		2022	4192	6214	SO:0001583	missense	0			-		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.113A>T	5.37:g.169720342T>A	ENSP00000046794:p.Lys38Met		A8KA25|Q53XV4	Missense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K38M	ENST00000046794.5	37	c.113	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865942	0.71949	.	.	ENSG00000043462	ENST00000046794	D	0.85258	-1.96	5.8	4.65	0.58169	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.125065	0.53938	D	0.000058	D	0.90448	0.7009	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89287	0.3616	9	.	.	.	-29.3543	8.5622	0.33518	0.0:0.0864:0.0:0.9136	.	38	Q13094	LCP2_HUMAN	M	38	ENSP00000046794:K38M	.	K	-	2	0	LCP2	169652920	0.981000	0.34729	0.854000	0.33618	0.825000	0.46686	2.124000	0.42006	1.030000	0.39839	0.533000	0.62120	AAG	-	LCP2	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.517	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	0	0	0	109	109	162	0.00	0.00	T	NM_005565		169720342	-1	10	22	22	59	tier1	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	31.25	27.16	SNP	0.911	A	10	22
HSPG2	3339	genome.wustl.edu	37	1	22169884	22169885	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:22169884_22169885delAG	ENST00000374695.3	-	66	8742_8743	c.8663_8664delCT	c.(8662-8664)tctfs	p.S2888fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2888	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGTACTCGCCAGAGTCAGCCGG	0.644													ENSG00000142798																																					0																																										SO:0001589	frameshift_variant	0				M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8663_8664delCT	1.37:g.22169886_22169887delAG	ENSP00000363827:p.Ser2888fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.S2888fs	ENST00000374695.3	37	c.8664_8663	CCDS30625.1	1																																																																																				HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.644	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	0	0	0	145	145	22	0.00	0.00	AG	NM_005529		22169885	-1	6	9	31	24	tier1	no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_del	16.22	27.27	DEL	0.999:1.000	-	6	31
UTP14A	10813	genome.wustl.edu	37	X	129055621	129055622	+	Intron	INS	-	-	A	rs3841681|rs397841716		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chrX:129055621_129055622insA	ENST00000394422.3	+	11	1376				UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000371042.3_Intron|UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GACTATGGGAGAAAAAAAAAAT	0.465													ENSG00000156697																																					0																																										SO:0001627	intron_variant	0				AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1348+58->A	X.37:g.129055631_129055631dupA			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	R	INS	-	NULL	ENST00000394422.3	37	NULL	CCDS14615.1	X																																																																																				UTP14A	-	-		0.465	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	0	0	1	38	38	75	0.00	1.32	-	NM_006649		129055622	+1	3	4	15	33	tier1	no_errors	ENST00000498179	ensembl	human	known	74_37	rna	16.67	10.81	INS	0.001:0.001	A	3	15
SLC6A9	6536	genome.wustl.edu	37	1	44466534	44466534	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr1:44466534G>A	ENST00000360584.2	-	12	1851	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	SLC6A9_ENST00000372307.3_Missense_Mutation_p.R416W|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R500W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.P510L|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R370W|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R481W|SLC6A9_ENST00000537678.1_3'UTR	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	554					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AAGTAGTTCCGGTGCCCTGGA	0.632													ENSG00000196517																																					0													58.0	63.0	61.0					1																	44466534		2203	4300	6503	SO:0001583	missense	0			-	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1660C>T	1.37:g.44466534G>A	ENSP00000353791:p.Arg554Trp		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.R554W	ENST00000360584.2	37	c.1660	CCDS41317.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919998|2.919998	0.52653|0.52653	.|.	.|.	ENSG00000196517|ENSG00000196517	ENST00000372306|ENST00000372307;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T|T;T;T;T;T	0.72942|0.75154	-0.7|-0.91;-0.91;-0.91;-0.91;-0.91	5.62|5.62	3.69|3.69	0.42338|0.42338	.|.	.|0.326887	.|0.34507	.|N	.|0.003901	T|T	0.81489|0.81489	0.4833|0.4833	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	B|D;B;B;B;D	0.29766|0.76494	0.256|0.996;0.305;0.138;0.034;0.999	B|P;B;B;B;P	0.18871|0.60173	0.023|0.803;0.142;0.021;0.013;0.87	T|T	0.81595|0.81595	-0.0861|-0.0861	9|10	0.33141|0.72032	T|D	0.24|0.01	.|.	10.3898|10.3898	0.44162|0.44162	0.0:0.1317:0.595:0.2733|0.0:0.1317:0.595:0.2733	.|.	510|485;416;481;500;554	B7Z8W5|B7Z3W8;B7Z3A9;P48067-2;P48067-3;P48067	.|.;.;.;.;SC6A9_HUMAN	L|W	510|416;481;370;554;500	ENSP00000361380:P510L|ENSP00000361381:R416W;ENSP00000361384:R481W;ENSP00000434460:R370W;ENSP00000353791:R554W;ENSP00000350362:R500W	ENSP00000361380:P510L|ENSP00000350362:R500W	P|R	-|-	2|1	0|2	SLC6A9|SLC6A9	44239121|44239121	0.895000|0.895000	0.30542|0.30542	0.689000|0.689000	0.30133|0.30133	0.997000|0.997000	0.91878|0.91878	1.334000|1.334000	0.33827|0.33827	0.682000|0.682000	0.31407|0.31407	0.655000|0.655000	0.94253|0.94253	CCG|CGG	-	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.632	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	0	0	0	122	122	56	0.00	0.00	G	NM_201649		44466534	-1	20	4	47	38	tier1	no_errors	ENST00000360584	ensembl	human	known	74_37	missense	29.85	9.52	SNP	0.995	A	20	47
LINC00470	56651	genome.wustl.edu	37	18	1276028	1276028	+	lincRNA	SNP	T	T	C			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:1276028T>C	ENST00000412816.3	-	0	357							Q9BZP3	CR002_HUMAN	long intergenic non-protein coding RNA 470											pancreas(1)	1						tagaattgtctctTGCGTCAT	0.368													ENSG00000132204																																					0																																												0			-	AF295730		18p11.32	2012-10-12	2011-08-31	2011-08-31	ENSG00000132204	ENSG00000132204		"""Long non-coding RNAs"""	1225	non-coding RNA	RNA, long non-coding			"""chromosome 18 open reading frame 2"""	C18orf2		11173868	Standard	NR_023925		Approved		uc002klg.2	Q9BZP3			18.37:g.1276028T>C			Q9BZP2|Q9BZP4	R	SNP	-	NULL	ENST00000412816.3	37	NULL		18																																																																																			-	LINC00470	-	-		0.368	LINC00470-001	KNOWN	basic	lincRNA	LINC00470	HGNC	lincRNA	OTTHUMT00000441551.1	0	0	0	148	148	99	0.00	0.00	T	NR_023925		1276028	-1	5	10	41	108	tier1	no_errors	ENST00000269201	ensembl	human	known	74_37	rna	10.87	8.47	SNP	0.057	C	5	41
PPARG	5468	genome.wustl.edu	37	3	12458565	12458565	+	Silent	SNP	C	C	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr3:12458565C>G	ENST00000287820.6	+	6	1303	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	PPARG_ENST00000309576.6_Silent_p.P366P|PPARG_ENST00000397012.2_Silent_p.P366P|PPARG_ENST00000397015.2_Silent_p.P366P|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Silent_p.P372P|PPARG_ENST00000397010.2_Silent_p.P366P|PPARG_ENST00000397000.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	394	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|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)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TTATGGAGCCCAAGTTTGAGT	0.428			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						ENSG00000132170																												Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	0													44.0	43.0	43.0					3																	12458565		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1182C>G	3.37:g.12458565C>G			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P394	ENST00000287820.6	37	c.1182	CCDS2609.1	3																																																																																			-	PPARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt		0.428	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	0	0	0	95	95	93	0.00	0.00	C	NM_005037		12458565	+1	4	6	35	66	tier1	no_errors	ENST00000287820	ensembl	human	known	74_37	silent	10.26	8.33	SNP	1.000	G	4	35
ACHE	43	genome.wustl.edu	37	7	100491105	100491105	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr7:100491105C>T	ENST00000412389.1	-	1	904	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	ACHE_ENST00000302913.4_Missense_Mutation_p.R250Q|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.R250Q|ACHE_ENST00000241069.5_Missense_Mutation_p.R250Q|ACHE_ENST00000419336.2_Missense_Mutation_p.R250Q|ACHE_ENST00000428317.1_Missense_Mutation_p.R250Q			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	250					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GAACAGGCCCCGGCTGGGCGG	0.721													ENSG00000087085																																					0													22.0	26.0	24.0					7																	100491105		2198	4288	6486	SO:0001583	missense	0			-		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.749G>A	7.37:g.100491105C>T	ENSP00000394976:p.Arg250Gln		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.R250Q	ENST00000412389.1	37	c.749	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629417	0.28978	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.95	4.95	0.65309	Carboxylesterase, type B (1);	0.057533	0.64402	D	0.000002	T	0.58977	0.2160	L	0.56280	1.765	0.48830	D	0.999719	D;P;P;D	0.59357	0.985;0.882;0.945;0.97	B;B;B;B	0.42282	0.382;0.064;0.149;0.249	T	0.60342	-0.7282	10	0.36615	T	0.2	.	9.3398	0.38074	0.0:0.9007:0.0:0.0993	.	250;250;250;250	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Q	250	ENSP00000403474:R250Q;ENSP00000241069:R250Q;ENSP00000414858:R250Q;ENSP00000303211:R250Q;ENSP00000394976:R250Q;ENSP00000397143:R250Q;ENSP00000399725:R250Q;ENSP00000404865:R250Q	ENSP00000241069:R250Q	R	-	2	0	ACHE	100329041	0.288000	0.24324	1.000000	0.80357	0.075000	0.17131	0.905000	0.28504	2.281000	0.76405	0.484000	0.47621	CGG	-	ACHE	-	pfam_CarbesteraseB		0.721	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	0	0	0	44	44	13	0.00	0.00	C	NM_015831		100491105	-1	4	0	12	6	tier1	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	25.00	0.00	SNP	1.000	T	4	12
DNM1P34	729809	genome.wustl.edu	37	15	75593138	75593138	+	RNA	DEL	A	A	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:75593138delA	ENST00000567292.1	-	0	1431							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ATAGACTTATAAGTCTAAGGG	0.607													ENSG00000260357																																					0																																												0				AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75593138delA				R	DEL	-	NULL	ENST00000567292.1	37	NULL		15																																																																																				DNM1P34	-	-		0.607	DNM1P34-001	KNOWN	basic	processed_transcript	DNM1P34	HGNC	pseudogene	OTTHUMT00000419799.1	0	0	0	37	37	11	0.00	0.00	A	NG_009143		75593138	-1	2	0	6	5	tier1	no_errors	ENST00000567292	ensembl	human	known	74_37	rna	25.00	0.00	DEL	1.000	-	2	6
DSPP	1834	genome.wustl.edu	37	4	88536614	88536614	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr4:88536614A>G	ENST00000282478.7	+	4	2833	c.2800A>G	c.(2800-2802)Aat>Gat	p.N934D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N934D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	934	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacaacagcaatagcagtga	0.478													ENSG00000152591																																					0																																										SO:0001583	missense	0			-	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2800A>G	4.37:g.88536614A>G	ENSP00000282478:p.Asn934Asp		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N934D	ENST00000282478.7	37	c.2800	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.380186	0.01204	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87334	-2.24;-2.24	1.73	0.826	0.18829	.	.	.	.	.	T	0.72374	0.3452	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54091	-0.8345	9	0.09843	T	0.71	.	4.3182	0.11003	0.2182:0.0:0.7818:0.0	.	934	Q9NZW4	DSPP_HUMAN	D	934	ENSP00000382213:N934D;ENSP00000282478:N934D	ENSP00000282478:N934D	N	+	1	0	DSPP	88755638	0.001000	0.12720	0.381000	0.26106	0.004000	0.04260	0.109000	0.15417	0.304000	0.22809	-1.256000	0.01477	AAT	-	DSPP	-	NULL		0.478	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	1	1	0	120	120	22	0.83	0.00	A	NM_014208		88536614	+1	6	0	55	4	tier1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	9.84	0.00	SNP	0.354	G	6	55
EXD3	54932	genome.wustl.edu	37	9	140243836	140243836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:140243836delG	ENST00000340951.4	-	15	1837	c.1642delC	c.(1642-1644)cagfs	p.Q548fs	EXD3_ENST00000342129.4_Frame_Shift_Del_p.Q228fs	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TAGATGACCTGCTCCTCGCAG	0.701													ENSG00000187609																																					0													20.0	26.0	24.0					9																	140243836		2086	4208	6294	SO:0001589	frameshift_variant	0					CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1642delC	9.37:g.140243836delG	ENSP00000340474:p.Gln548fs		Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	pfam_Mut7-C_Rse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.Q548fs	ENST00000340951.4	37	c.1642	CCDS48066.1	9																																																																																				EXD3	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	0	0	0	59	59	8	0.00	0.00	G	NM_017820		140243836	-1	2	0	21	7	tier1	no_errors	ENST00000340951	ensembl	human	known	74_37	frame_shift_del	8.70	0.00	DEL	0.993	-	2	21
NLRP1	22861	genome.wustl.edu	37	17	5436697	5436697	+	Silent	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr17:5436697C>T	ENST00000572272.1	-	10	3059	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	NLRP1_ENST00000345221.3_Silent_p.A1020A|NLRP1_ENST00000269280.4_Silent_p.A1020A|NLRP1_ENST00000354411.3_Silent_p.A990A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.A1020A|NLRP1_ENST00000577119.1_Silent_p.A990A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				catgggaagccgccctctcta	0.527													ENSG00000091592																																					0													61.0	55.0	57.0					17																	5436697		1327	2309	3636	SO:0001819	synonymous_variant	0			-	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3060G>A	17.37:g.5436697C>T			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.A1020	ENST00000572272.1	37	c.3060	CCDS42246.1	17																																																																																			-	NLRP1	-	NULL		0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	0	0	0	16	16	0	0.00	0.00	C	NM_033004		5436697	-1	6	0	4	0	tier1	no_errors	ENST00000572272	ensembl	human	known	74_37	silent	60.00	0.00	SNP	0.001	T	6	4
RIMBP2	23504	genome.wustl.edu	37	12	130921759	130921759	+	Silent	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr12:130921759G>A	ENST00000261655.4	-	10	1846	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	RIMBP2_ENST00000536002.1_Silent_p.G469G|RIMBP2_ENST00000535703.1_Silent_p.G469G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	561	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGTCACGCCCTTGGCCT	0.687													ENSG00000060709																																					0													17.0	16.0	16.0					12																	130921759		2190	4288	6478	SO:0001819	synonymous_variant	0			-	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1683C>T	12.37:g.130921759G>A			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.G561	ENST00000261655.4	37	c.1683	CCDS31925.1	12																																																																																			-	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	0	0	0	56	56	0	0.00	0.00	G	NM_015347		130921759	-1	4	0	18	3	tier1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	18.18	0.00	SNP	0.038	A	4	18
SEMA4B	10509	genome.wustl.edu	37	15	90744945	90744945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr15:90744945delC	ENST00000411539.2	+	1	395	c.135delC	c.(133-135)agcfs	p.S45fs	SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.S45fs|SEMA4B_ENST00000379122.3_Frame_Shift_Del_p.S40fs	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	40	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGGCGCTCAGCCCCCGGATCA	0.771													ENSG00000185033																																					0													2.0	2.0	2.0					15																	90744945		1286	2912	4198	SO:0001589	frameshift_variant	0				AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.135delC	15.37:g.90744945delC	ENSP00000394720:p.Ser45fs		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R47fs	ENST00000411539.2	37	c.135	CCDS45347.1	15																																																																																				SEMA4B	-	superfamily_Semap_dom,pfscan_Semap_dom		0.771	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	0	0	0	17	17	0	0.00	0.00	C	NM_198925		90744945	+1	2	0	11	0	tier1	no_errors	ENST00000332496	ensembl	human	known	74_37	frame_shift_del	15.38	0.00	DEL	0.781	-	2	11
SYT8	90019	genome.wustl.edu	37	11	1856592	1856592	+	Missense_Mutation	SNP	G	G	T	rs148442765		TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:1856592G>T	ENST00000381968.3	+	3	331	c.203G>T	c.(202-204)tGt>tTt	p.C68F	SYT8_ENST00000436964.2_Missense_Mutation_p.C54F|SYT8_ENST00000535046.1_Missense_Mutation_p.C206F|SYT8_ENST00000341958.3_Missense_Mutation_p.C54F	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	68	Cys-rich.				acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCCTCCTCTGTGCTGCCTGC	0.701													ENSG00000149043																																					0													16.0	19.0	18.0					11																	1856592		2189	4282	6471	SO:0001583	missense	0			-	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.203G>T	11.37:g.1856592G>T	ENSP00000371394:p.Cys68Phe		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.C68F	ENST00000381968.3	37	c.203	CCDS7726.2	11	.	.	.	.	.	.	.	.	.	.	g	12.37	1.916668	0.33815	.	.	ENSG00000149043	ENST00000436964;ENST00000430303;ENST00000417052;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T;T;T	0.59502	1.03;0.26;0.34;1.26;2.36;2.4	3.34	3.34	0.38264	.	.	.	.	.	T	0.70666	0.3250	M	0.84326	2.69	0.45139	D	0.998151	P;P;P;P	0.50943	0.94;0.94;0.901;0.901	P;P;B;B	0.59056	0.851;0.656;0.333;0.333	T	0.71576	-0.4551	9	0.41790	T	0.15	.	9.3844	0.38333	0.0:0.0:0.7865:0.2135	.	54;54;68;54	C9JSK3;B4DDZ3;Q8NBV8;A6NCR4	.;.;SYT8_HUMAN;.	F	54;54;54;206;68;54	ENSP00000414626:C54F;ENSP00000392469:C54F;ENSP00000387678:C54F;ENSP00000443325:C206F;ENSP00000371394:C68F;ENSP00000343691:C54F	ENSP00000343691:C54F	C	+	2	0	SYT8	1813168	0.955000	0.32602	0.269000	0.24586	0.125000	0.20455	1.481000	0.35476	1.900000	0.55004	0.305000	0.20034	TGT	-	SYT8	-	NULL		0.701	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	HGNC	protein_coding	OTTHUMT00000025013.4	0	0	0	81	81	3	0.00	0.00	G			1856592	+1	4	0	21	4	tier1	no_errors	ENST00000381968	ensembl	human	known	74_37	missense	16.00	0.00	SNP	0.513	T	4	21
WASH6P	653440	genome.wustl.edu	37	X	155253591	155253591	+	RNA	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chrX:155253591G>A	ENST00000461007.1	+	0	2507				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CAGGATGCCCGCGCTCAGGTG	0.637													ENSG00000182484																																					0																																												0			-	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155253591G>A			A6NGF1|Q8N305	R	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			-	WASH6P	-	-		0.637	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	0	0	0	245	245	0	0.00	0.00	G	NG_008380		155253591	+1	10	0	62	0	tier1	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	13.89	0.00	SNP	0.004	A	10	62
DSCAML1	57453	genome.wustl.edu	37	11	117308034	117308034	+	Silent	SNP	G	G	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr11:117308034G>A	ENST00000321322.6	-	26	4705	c.4704C>T	c.(4702-4704)tgC>tgT	p.C1568C	DSCAML1_ENST00000527706.1_Silent_p.C1298C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1508	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTGATAGGGCAGCCCCCAT	0.627													ENSG00000177103																																					0													129.0	120.0	123.0					11																	117308034		2201	4296	6497	SO:0001819	synonymous_variant	0			-		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4704C>T	11.37:g.117308034G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C1568	ENST00000321322.6	37	c.4704	CCDS8384.1	11																																																																																			-	DSCAML1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	0	0	0	58	58	92	0.00	0.00	G	NM_020693		117308034	-1	3	2	12	48	tier1	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	20.00	4.00	SNP	1.000	A	3	12
TRPM6	140803	genome.wustl.edu	37	9	77436669	77436669	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr9:77436669T>A	ENST00000360774.1	-	8	1163	c.926A>T	c.(925-927)gAc>gTc	p.D309V	TRPM6_ENST00000376864.4_Missense_Mutation_p.D309V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.D304V|TRPM6_ENST00000376872.3_Missense_Mutation_p.D309V|TRPM6_ENST00000376871.3_Missense_Mutation_p.D309V|TRPM6_ENST00000361255.3_Missense_Mutation_p.D304V|TRPM6_ENST00000451710.3_Missense_Mutation_p.D309V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	309					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGTCCTTGTCCTTGACAGT	0.592													ENSG00000119121																																					0													154.0	109.0	124.0					9																	77436669		2203	4300	6503	SO:0001583	missense	0			-	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.926A>T	9.37:g.77436669T>A	ENSP00000354006:p.Asp309Val		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D309V	ENST00000360774.1	37	c.926	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	T	15.68	2.905653	0.52333	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.47	5.47	0.80525	.	0.344486	0.36200	N	0.002735	T	0.32704	0.0838	L	0.60845	1.875	0.39819	D	0.972806	B;P;B;B	0.34724	0.279;0.465;0.167;0.145	B;B;B;B	0.33521	0.124;0.165;0.104;0.043	T	0.35325	-0.9793	10	0.66056	D	0.02	.	7.0396	0.25013	0.0:0.0779:0.162:0.76	.	309;309;309;304	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	V	309;309;309;309;304;304;309	ENSP00000354006:D309V;ENSP00000407341:D309V;ENSP00000366068:D309V;ENSP00000366067:D309V;ENSP00000396672:D304V;ENSP00000354962:D304V;ENSP00000366060:D309V	ENSP00000354006:D309V	D	-	2	0	TRPM6	76626489	0.023000	0.18921	0.771000	0.31576	0.949000	0.60115	1.827000	0.39102	2.075000	0.62263	0.459000	0.35465	GAC	-	TRPM6	-	NULL		0.592	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	0	0	0	110	110	97	0.00	0.00	T	NM_017662		77436669	-1	6	2	44	62	tier1	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	12.00	3.12	SNP	0.883	A	6	44
C18orf61	497259	genome.wustl.edu	37	18	12211904	12211904	+	RNA	SNP	C	C	T			TCGA-DX-A8BK-01A-11D-A37C-09	TCGA-DX-A8BK-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cb69acbd-68de-47c8-9f21-643be150e2e8	ad86364a-9f45-4c31-a547-3de1dc9c8120	g.chr18:12211904C>T	ENST00000586882.1	+	0	125					NR_049896.1																						GGCGGGCTTCCTAGGATGATT	0.363													ENSG00000267733																																					0																																												0			-																													18.37:g.12211904C>T				R	SNP	-	NULL	ENST00000586882.1	37	NULL		18																																																																																			-	RP11-64C12.3	-	-		0.363	RP11-64C12.3-002	KNOWN	basic	processed_transcript	C18orf61	Clone_based_vega_gene	pseudogene	OTTHUMT00000452742.1	0	0	0	103	103	30	0.00	0.00	C			12211904	+1	8	2	34	28	tier1	no_errors	ENST00000586642	ensembl	human	known	74_37	rna	19.05	6.67	SNP	1.000	T	8	34
