#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
THEM5	284486	genome.wustl.edu	37	1	151823623	151823623	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:151823623C>A	ENST00000368817.5	-	3	501	c.370G>T	c.(370-372)Gga>Tga	p.G124*	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	124					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.G124*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCCTTGTCCTTCCACTTGG	0.547																																																1	Substitution - Nonsense(1)	ovary(1)	1											151.0	139.0	143.0					1																	151823623		2203	4300	6503	150090247	SO:0001587	stop_gained	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.370G>T	1.37:g.151823623C>A	ENSP00000357807:p.Gly124*		150090247	Q5T1C3	Nonsense_Mutation	SNP	-	p.G124*	ENST00000368817.5	37	c.370	CCDS1005.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.803480|4.803480	0.90623|0.90623	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	.|.	.|.	.|.	6.07|6.07	4.22|4.22	0.49857|0.49857	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.36991	.|0.0987	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26360	.|-1.0105	.|3	0.32370|.	T|.	0.25|.	-9.7717|-9.7717	9.3506|9.3506	0.38136|0.38136	0.0:0.837:0.0:0.163|0.0:0.837:0.0:0.163	.|.	.|.	.|.	.|.	X|N	124|70	.|.	ENSP00000357807:G124X|.	G|K	-|-	1|3	0|2	THEM5|THEM5	150090247|150090247	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.994000|0.994000	0.84299|0.84299	3.858000|3.858000	0.55979|0.55979	0.907000|0.907000	0.36646|0.36646	0.655000|0.655000	0.94253|0.94253	GGA|AAG	-	NULL		0.547	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	protein_coding	OTTHUMT00000036678.2	C	NM_182578		150090247	-1	no_errors	NM_182578	genbank	human	validated	54_36p	nonsense	SNP	0.97	A
NES	10763	genome.wustl.edu	37	1	156640550	156640550	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:156640550G>T	ENST00000368223.3	-	4	3562	c.3430C>A	c.(3430-3432)Cta>Ata	p.L1144I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1144	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.L1144I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTCCTCTAGGTCCTTTCTA	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											67.0	69.0	68.0					1																	156640550		2203	4300	6503	154907174	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3430C>A	1.37:g.156640550G>T	ENSP00000357206:p.Leu1144Ile		154907174	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	HMMPfam_Filament	p.L1144I	ENST00000368223.3	37	c.3430	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518557	0.13005	.	.	ENSG00000132688	ENST00000368223	D	0.85955	-2.05	4.88	-2.66	0.06077	.	1.585560	0.04674	N	0.411156	T	0.59459	0.2195	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.46596	-0.9180	10	0.24483	T	0.36	.	6.4662	0.21983	0.2888:0.3732:0.338:0.0	.	1144	P48681	NEST_HUMAN	I	1144	ENSP00000357206:L1144I	ENSP00000357206:L1144I	L	-	1	2	NES	154907174	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.244000	0.08903	-0.133000	0.11537	-1.226000	0.01582	CTA	-	NULL		0.612	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	G	NM_006617		154907174	-1	no_errors	NM_006617	genbank	human	reviewed	54_36p	missense	SNP	0	T
OR10K1	391109	genome.wustl.edu	37	1	158435794	158435794	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:158435794C>A	ENST00000289451.2	+	1	523	c.443C>A	c.(442-444)gCc>gAc	p.A148D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATGGCTGCTGCCTGTGCCTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											195.0	182.0	187.0					1																	158435794		2203	4300	6503	156702418	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.443C>A	1.37:g.158435794C>A	ENSP00000289451:p.Ala148Asp		156702418	Q6IFS2	Missense_Mutation	SNP	-	p.A148D	ENST00000289451.2	37	c.443	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.392001	0.42410	.	.	ENSG00000173285	ENST00000289451	T	0.39229	1.09	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000657	T	0.60983	0.2311	M	0.89353	3.025	0.33193	D	0.551177	D	0.89917	1.0	D	0.97110	1.0	T	0.68941	-0.5276	10	0.72032	D	0.01	.	12.592	0.56447	0.0:0.8312:0.1688:0.0	.	148	Q8NGX5	O10K1_HUMAN	D	148	ENSP00000289451:A148D	ENSP00000289451:A148D	A	+	2	0	OR10K1	156702418	0.678000	0.27586	0.981000	0.43875	0.211000	0.24417	1.685000	0.37659	2.311000	0.77944	0.557000	0.71058	GCC	-	NULL		0.547	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	protein_coding	OTTHUMT00000046367.1	C			156702418	1	no_errors	NM_001004473	genbank	human	provisional	54_36p	missense	SNP	1	A
SYT2	127833	genome.wustl.edu	37	1	202568418	202568418	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:202568418G>T	ENST00000367267.1	-	8	1173	c.981C>A	c.(979-981)acC>acA	p.T327T	SYT2_ENST00000367268.4_Silent_p.T327T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	327	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T327T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTTCTTCACGGTTGTCTTCT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	1											300.0	286.0	291.0					1																	202568418		2203	4300	6503	200835041	SO:0001819	synonymous_variant	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.981C>A	1.37:g.202568418G>T			200835041	Q496K5|Q8NBE5	Silent	SNP	-	p.T327	ENST00000367267.1	37	c.981	CCDS1427.1	1																																																																																			-	NULL		0.537	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	protein_coding	OTTHUMT00000099157.1	G	NM_177402		200835041	-1	no_errors	NM_177402	genbank	human	validated	54_36p	silent	SNP	0.91	T
LGALS8	3964	genome.wustl.edu	37	1	236700861	236700861	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:236700861G>A	ENST00000366584.4	+	3	676	c.110G>A	c.(109-111)gGg>gAg	p.G37E	LGALS8_ENST00000352231.2_Missense_Mutation_p.G37E|LGALS8_ENST00000526634.1_Missense_Mutation_p.G37E|LGALS8_ENST00000526589.1_Missense_Mutation_p.G37E|LGALS8_ENST00000527974.1_Missense_Mutation_p.G37E|LGALS8_ENST00000416919.2_Missense_Mutation_p.G37E|LGALS8_ENST00000323938.6_Missense_Mutation_p.G37E|RP11-385F5.4_ENST00000433131.1_RNA|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.G37E|LGALS8_ENST00000450372.2_Missense_Mutation_p.G37E|LGALS8_ENST00000525042.1_Missense_Mutation_p.G37E	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.G37E(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTGATACGTGGGCATGTTCCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											113.0	95.0	101.0					1																	236700861		2203	4300	6503	234767484	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.110G>A	1.37:g.236700861G>A	ENSP00000355543:p.Gly37Glu		234767484	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	HMMPfam_Gal-bind_lectin;superfamily_Concanavalin A-like lectins/glucanases	p.G37E	ENST00000366584.4	37	c.110	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452267	0.84209	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000529489;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78856	-0.2039	10	0.87932	D	0	-13.7788	19.4714	0.94965	0.0:0.0:1.0:0.0	.	37;37;37	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	E	37	ENSP00000435632:G37E;ENSP00000405504:G37E;ENSP00000431398:G37E;ENSP00000398630:G37E;ENSP00000309576:G37E;ENSP00000385999:G37E;ENSP00000435460:G37E;ENSP00000437007:G37E;ENSP00000342139:G37E;ENSP00000408657:G37E;ENSP00000355543:G37E;ENSP00000238181:G37E;ENSP00000410843:G37E;ENSP00000434860:G37E;ENSP00000437040:G37E;ENSP00000431884:G37E	ENSP00000238181:G37E	G	+	2	0	LGALS8	234767484	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.234000	0.78134	2.837000	0.97791	0.591000	0.81541	GGG	-	HMMPfam_Gal-bind_lectin		0.403	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	protein_coding	OTTHUMT00000096365.2	G	NM_006499		234767484	1	no_errors	NM_006499	genbank	human	reviewed	54_36p	missense	SNP	1	A
PARS2	25973	genome.wustl.edu	37	1	55223580	55223580	+	Nonsense_Mutation	SNP	C	C	A	rs369177515		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:55223580C>A	ENST00000371279.3	-	2	1337	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	419					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.G419*(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGTCTGTTTCCGATGGTCAGA	0.562																																																1	Substitution - Nonsense(1)	ovary(1)	1											167.0	154.0	158.0					1																	55223580		2203	4300	6503	54996168	SO:0001587	stop_gained	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1255G>T	1.37:g.55223580C>A	ENSP00000360327:p.Gly419*		54996168	A8K0W4|Q9H6S5|Q9UFT1	Nonsense_Mutation	SNP	HMMPfam_tRNA-synt_2b;HMMPfam_HGTP_anticodon;superfamily_Anticodon-binding domain of Class II aaRS;superfamily_Class II aaRS and biotin synthetases	p.G419*	ENST00000371279.3	37	c.1255	CCDS597.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.575035	0.97676	.	.	ENSG00000162396	ENST00000371279	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-15.3131	19.756	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	ENSP00000360327:G419X	G	-	1	0	PARS2	54996168	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.666000	0.83877	2.665000	0.90641	0.655000	0.94253	GGA	-	HMMPfam_HGTP_anticodon		0.562	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARS2	protein_coding	OTTHUMT00000027436.1	C	NM_152268		54996168	-1	no_errors	NM_152268	genbank	human	provisional	54_36p	nonsense	SNP	1	A
RYR2	6262	genome.wustl.edu	37	1	237777438	237777438	+	Missense_Mutation	SNP	C	C	G	rs562273071		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr1:237777438C>G	ENST00000366574.2	+	37	5327	c.5010C>G	c.(5008-5010)caC>caG	p.H1670Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H1668Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H1654Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1670	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H1668Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGGAACCACCGGGTGGCCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											65.0	66.0	66.0					1																	237777438		2061	4207	6268	235844061	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5010C>G	1.37:g.237777438C>G	ENSP00000355533:p.His1670Gln		235844061	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR;HMMPfam_efhand;HMMPfam_RyR;HMMPfam_MIR;HMMPfam_SPRY;HMMPfam_Ion_trans;HMMPfam_RR_TM4-6;HMMPfam_RIH_assoc;HMMPfam_Ins145_P3_rec;superfamily_EF-hand;superfamily_MIR domain (Pfam 02815)	p.H1670Q	ENST00000366574.2	37	c.5010	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586676	0.28268	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96491	-4.03;-4.0;-4.02	5.78	3.88	0.44766	.	0.072808	0.50627	D	0.000113	D	0.89230	0.6656	N	0.08118	0	0.80722	D	1	B	0.19200	0.034	B	0.17433	0.018	T	0.82468	-0.0442	10	0.26408	T	0.33	.	9.9864	0.41843	0.0:0.7907:0.0:0.2093	.	1670	Q92736	RYR2_HUMAN	Q	1670;1668;1654	ENSP00000355533:H1670Q;ENSP00000353174:H1668Q;ENSP00000443798:H1654Q	ENSP00000353174:H1668Q	H	+	3	2	RYR2	235844061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.016000	0.29976	0.757000	0.33036	0.655000	0.94253	CAC	-	NULL		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	C	NM_001035		235844061	1	no_errors	NM_001035	genbank	human	reviewed	54_36p	missense	SNP	1	G
CYP2C19	1557	genome.wustl.edu	37	10	96535287	96535287	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr10:96535287A>C	ENST00000371321.3	+	3	554	c.472A>C	c.(472-474)Aaa>Caa	p.K158Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	158					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.K158Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGAGTTGAGAAAAACCAAGGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											158.0	154.0	156.0					10																	96535287		2203	4300	6503	96525277	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.472A>C	10.37:g.96535287A>C	ENSP00000360372:p.Lys158Gln		96525277	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	HMMPfam_p450;superfamily_Cytochrome P450	p.K158Q	ENST00000371321.3	37	c.472	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	A	7.631	0.678814	0.14841	.	.	ENSG00000165841	ENST00000371321	T	0.70164	-0.46	3.9	1.5	0.22942	.	0.699906	0.12222	U	0.488301	T	0.58424	0.2121	M	0.61387	1.9	0.09310	N	1	B	0.26081	0.141	B	0.26770	0.073	T	0.55842	-0.8077	10	0.72032	D	0.01	.	3.2988	0.06975	0.5562:0.2112:0.2327:0.0	.	158	P33261	CP2CJ_HUMAN	Q	158	ENSP00000360372:K158Q	ENSP00000360372:K158Q	K	+	1	0	CYP2C19	96525277	0.000000	0.05858	0.102000	0.21198	0.478000	0.33099	0.079000	0.14782	0.492000	0.27815	0.333000	0.21579	AAA	-	HMMPfam_p450		0.512	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	protein_coding	OTTHUMT00000049490.1	A	NM_000769		96525277	1	no_errors	NM_000769	genbank	human	reviewed	54_36p	missense	SNP	0.15	C
MUC5B	727897	genome.wustl.edu	37	11	1264295	1264295	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:1264295C>T	ENST00000529681.1	+	31	6243	c.6185C>T	c.(6184-6186)aCc>aTc	p.T2062I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2065I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2062	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2065I(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCACAGCCACCCCCTCCTCC	0.642																																																1	Substitution - Missense(1)	ovary(1)	11											70.0	89.0	83.0					11																	1264295		2010	4175	6185	1220871	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6185C>T	11.37:g.1264295C>T	ENSP00000436812:p.Thr2062Ile		1220871	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	-	p.T2065I	ENST00000529681.1	37	c.6194	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	4.179	0.031847	0.08101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.23950	1.88;2.1	1.96	1.96	0.26148	.	.	.	.	.	T	0.20210	0.0486	L	0.52126	1.63	0.09310	N	1	P;P	0.42692	0.649;0.787	B;B	0.33042	0.157;0.157	T	0.14035	-1.0487	9	0.87932	D	0	.	9.5388	0.39240	0.0:1.0:0.0:0.0	.	2755;2065	A7Y9J9;E9PBJ0	.;.	I	2062;2065;2063;2132	ENSP00000436812:T2062I;ENSP00000415793:T2065I	ENSP00000343037:T2063I	T	+	2	0	MUC5B	1220871	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.016000	0.13377	1.102000	0.41551	0.195000	0.17529	ACC	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1220871	1	no_errors	NM_002458	genbank	human	validated	54_36p	missense	SNP	0	T
OR52A1	23538	genome.wustl.edu	37	11	5172994	5172994	+	Silent	SNP	A	A	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:5172994A>G	ENST00000380367.1	-	2	1023	c.606T>C	c.(604-606)ggT>ggC	p.G202G	OR52A1_ENST00000328942.1_Silent_p.G202G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	202					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.G202G(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAACAAACCATAGATTT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											163.0	156.0	158.0					11																	5172994		2201	4298	6499	5129570	SO:0001819	synonymous_variant	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.606T>C	11.37:g.5172994A>G			5129570	Q6IF31	Silent	SNP	HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like	p.G202	ENST00000380367.1	37	c.606	CCDS31374.1	11																																																																																			-	HMMPfam_7tm_1		0.413	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	protein_coding	OTTHUMT00000142810.2	A	NM_012375		5129570	-1	no_errors	NM_012375	genbank	human	validated	54_36p	silent	SNP	0.03	G
MARK2	2011	genome.wustl.edu	37	11	63667404	63667404	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:63667404G>A	ENST00000509502.2	+	8	954	c.491G>A	c.(490-492)aGc>aAc	p.S164N	MARK2_ENST00000508192.1_Missense_Mutation_p.S197N|MARK2_ENST00000377809.4_Missense_Mutation_p.S197N|MARK2_ENST00000350490.7_Missense_Mutation_p.S197N|MARK2_ENST00000315032.8_Missense_Mutation_p.S197N|MARK2_ENST00000502399.3_Missense_Mutation_p.S197N|MARK2_ENST00000361128.5_Missense_Mutation_p.S197N|MARK2_ENST00000413835.2_Missense_Mutation_p.S197N|MARK2_ENST00000513765.2_Missense_Mutation_p.S164N|MARK2_ENST00000377810.3_Missense_Mutation_p.S164N|MARK2_ENST00000425897.2_Missense_Mutation_p.S164N|MARK2_ENST00000408948.3_Missense_Mutation_p.S164N|MARK2_ENST00000402010.2_Missense_Mutation_p.S197N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.S164N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTGGCTTCAGCAATGAATTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											157.0	151.0	153.0					11																	63667404		2201	4297	6498	63423980	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.491G>A	11.37:g.63667404G>A	ENSP00000423974:p.Ser164Asn		63423980		Missense_Mutation	SNP	-	p.S164N	ENST00000509502.2	37	c.491	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	g	34	5.327907	0.95733	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;1.0;1.0	D;D;D;D;D;D	0.87578	0.995;0.995;0.988;0.98;0.997;0.998	T	0.78324	-0.2248	10	0.87932	D	0	.	18.3171	0.90225	0.0:0.0:1.0:0.0	.	164;164;197;197;197;197	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	N	197;197;197;197;164;197;197;197;197;164;164;164;164	ENSP00000385751:S197N;ENSP00000326632:S197N;ENSP00000367040:S197N;ENSP00000389184:S197N;ENSP00000367041:S164N;ENSP00000425765:S197N;ENSP00000355091:S197N;ENSP00000294247:S197N;ENSP00000423974:S164N;ENSP00000421075:S164N;ENSP00000386128:S164N;ENSP00000415494:S164N	ENSP00000326632:S197N	S	+	2	0	MARK2	63423980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.654000	0.98509	2.858000	0.98145	0.651000	0.88453	AGC	-	NULL		0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	protein_coding	OTTHUMT00000360862.2	G	NM_017490		63423980	1	no_errors	NM_017490	genbank	human	reviewed	54_36p	missense	SNP	1	A
APLP2	334	genome.wustl.edu	37	11	130010339	130010339	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr11:130010339G>T	ENST00000263574.5	+	15	1992	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	APLP2_ENST00000338167.5_Missense_Mutation_p.E628D|APLP2_ENST00000539648.1_Missense_Mutation_p.E428D|APLP2_ENST00000278756.7_Missense_Mutation_p.E638D|APLP2_ENST00000345598.5_Missense_Mutation_p.E399D|APLP2_ENST00000528499.1_Missense_Mutation_p.E572D|APLP2_ENST00000543137.1_Missense_Mutation_p.E535D	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	640					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E640D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GTGCCGAAGAGAAAGTGATTA	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											233.0	204.0	214.0					11																	130010339		2201	4297	6498	129515549	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1920G>T	11.37:g.130010339G>T	ENSP00000263574:p.Glu640Asp		129515549	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	HMMPfam_Kunitz_BPTI,superfamily_BPTI-like,HMMPfam_A4_EXTRA,superfamily_Amyloid beta a4 protein copper binding domain (domain 2),superfamily_A heparin-binding domain,superfamily_CAPPD an extracellular domain of amyloid beta A4 protein	p.E640D	ENST00000263574.5	37	c.1920	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441554	0.63067	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.94330	-3.39;-3.27;-1.78;-3.4;-1.9;-1.91;-1.88	5.65	2.77	0.32553	.	0.199976	0.44483	D	0.000452	D	0.94371	0.8190	L	0.60455	1.87	0.46416	D	0.99903	D;P;B;P;D;P;P	0.69078	0.997;0.947;0.073;0.955;0.984;0.949;0.952	D;P;B;P;P;P;P	0.77557	0.99;0.638;0.034;0.546;0.632;0.496;0.496	D	0.91613	0.5304	9	.	.	.	-28.5706	6.9673	0.24629	0.3821:0.0:0.6179:0.0	.	428;640;584;399;566;572;628	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	D	572;428;640;399;628;638;535	ENSP00000435914:E572D;ENSP00000443728:E428D;ENSP00000263574:E640D;ENSP00000263575:E399D;ENSP00000345444:E628D;ENSP00000278756:E638D;ENSP00000444122:E535D	.	E	+	3	2	APLP2	129515549	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.636000	0.24644	0.319000	0.23209	-0.136000	0.14681	GAG	-	NULL		0.488	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	protein_coding	OTTHUMT00000386109.1	G	NM_001642		129515549	1	no_errors	NM_001642	genbank	human	validated	54_36p	missense	SNP	1	T
XIAP	331	genome.wustl.edu	37	10	111440615	111440615	+	IGR	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr10:111440615G>A								RNU6-839P (441111 upstream) : XPNPEP1 (183908 downstream)																							AAAGAGATTAGTACTGAAGAG	0.393																																																0			10																																								111430605	SO:0001628	intergenic_variant	100132843																															10.37:g.111440615G>A			111430605		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.393					LOC100132843			G			111430605	1	pseudogene	XR_037957	genbank	human	model	54_36p	rna	SNP	0.99	A
NDUFA9	4704	genome.wustl.edu	37	12	4763472	4763472	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:4763472G>T	ENST00000266544.5	+	2	84	c.64G>T	c.(64-66)Gca>Tca	p.A22S	NDUFA9_ENST00000542369.1_3'UTR|RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	22					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.A22S(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGCCATTACTGCAATAGCCAC	0.438																																					Colon(75;996 1244 23946 25294 29232)											1	Substitution - Missense(1)	ovary(1)	12											125.0	112.0	116.0					12																	4763472		2203	4300	6503	4633733	SO:0001583	missense	4704			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.64G>T	12.37:g.4763472G>T	ENSP00000266544:p.Ala22Ser		4633733	Q14076|Q2NKX0	Missense_Mutation	SNP	HMMPfam_Epimerase;superfamily_NAD(P)-binding Rossmann-fold domains	p.A22S	ENST00000266544.5	37	c.64	CCDS8532.1	12	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575003	0.45902	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	T	0.77358	-1.09	5.55	3.69	0.42338	.	0.520829	0.22144	N	0.064013	T	0.62648	0.2445	L	0.41710	1.295	0.23559	N	0.99742	B;B	0.18461	0.024;0.028	B;B	0.12156	0.007;0.007	T	0.43637	-0.9379	10	0.14252	T	0.57	-10.3882	4.7407	0.13012	0.0816:0.1491:0.6152:0.1541	.	22;22	A8K4V2;Q16795	.;NDUA9_HUMAN	S	22;44	ENSP00000266544:A22S	ENSP00000266544:A22S	A	+	1	0	NDUFA9	4633733	0.997000	0.39634	0.068000	0.19968	0.776000	0.43924	2.349000	0.44054	0.661000	0.30985	0.563000	0.77884	GCA	-	NULL		0.438	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	protein_coding	OTTHUMT00000398900.2	G	NM_005002		4633733	1	no_errors	NM_005002	genbank	human	provisional	54_36p	missense	SNP	0.07	T
SLCO1B1	10599	genome.wustl.edu	37	12	21294579	21294579	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:21294579G>T	ENST00000256958.2	+	2	167	c.71G>T	c.(70-72)tGc>tTc	p.C24F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	24					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.C24F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACAAGATACTGCAATGGATTG	0.279																																																1	Substitution - Missense(1)	ovary(1)	12											72.0	73.0	73.0					12																	21294579		2203	4295	6498	21185846	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.71G>T	12.37:g.21294579G>T	ENSP00000256958:p.Cys24Phe		21185846	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	-	p.C24F	ENST00000256958.2	37	c.71	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	.	4.991	0.184045	0.09495	.	.	ENSG00000134538	ENST00000256958	T	0.57595	0.39	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.151849	0.43919	D	0.000517	T	0.44286	0.1286	M	0.62723	1.935	0.39010	D	0.959539	B	0.27765	0.188	B	0.22880	0.042	T	0.37731	-0.9693	10	0.15499	T	0.54	.	10.8585	0.46812	0.0:0.0:1.0:0.0	.	24	Q9Y6L6	SO1B1_HUMAN	F	24	ENSP00000256958:C24F	ENSP00000256958:C24F	C	+	2	0	SLCO1B1	21185846	0.510000	0.26171	0.897000	0.35233	0.005000	0.04900	3.719000	0.54926	2.255000	0.74692	0.650000	0.86243	TGC	-	NULL		0.279	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	G	NM_006446		21185846	1	no_errors	NM_006446	genbank	human	reviewed	54_36p	missense	SNP	0.63	T
BAZ2A	11176	genome.wustl.edu	37	12	57008850	57008850	+	Silent	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr12:57008850T>C	ENST00000551812.1	-	3	877	c.684A>G	c.(682-684)gcA>gcG	p.A228A	BAZ2A_ENST00000379441.3_Silent_p.A198A|BAZ2A_ENST00000179765.5_Silent_p.A196A|BAZ2A_ENST00000549884.1_Silent_p.A226A	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	228					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A228A(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCCATTCTCTGCCACAACTG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											59.0	58.0	58.0					12																	57008850		2028	4196	6224	55295117	SO:0001819	synonymous_variant	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.684A>G	12.37:g.57008850T>C			55295117	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	HMMPfam_AT_hook;HMMPfam_Bromodomain;HMMPfam_MBD;HMMPfam_PHD;HMMPfam_DDT;superfamily_FYVE/PHD zinc finger;superfamily_Bromodomain;superfamily_DNA-binding domain	p.A228	ENST00000551812.1	37	c.684	CCDS44924.1	12																																																																																			-	NULL		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	protein_coding	OTTHUMT00000408561.1	T	NM_013449		55295117	-1	no_errors	NM_013449	genbank	human	validated	54_36p	silent	SNP	1	C
ERCC5	2073	genome.wustl.edu	37	13	103510653	103510653	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr13:103510653T>C	ENST00000355739.4	+	6	1980	c.557T>C	c.(556-558)aTa>aCa	p.I186T	ERCC5_ENST00000535557.1_Missense_Mutation_p.I186T|BIVM-ERCC5_ENST00000602836.1_Silent_p.D611D	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	186					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.I186T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTCAAGCGATAGATATTGAG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	1	Substitution - Missense(1)	ovary(1)	13											94.0	95.0	95.0					13																	103510653		2203	4300	6503	102308654	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.557T>C	13.37:g.103510653T>C	ENSP00000347978:p.Ile186Thr		102308654	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	HMMPfam_XPG_N;HMMPfam_XPG_I;superfamily_5' to 3' exonuclease C-terminal subdomain;superfamily_PIN domain-like	p.I186T	ENST00000355739.4	37	c.557	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166924	0.57476	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	T;T	0.17854	2.25;2.25	5.31	5.31	0.75309	.	0.252736	0.41500	D	0.000871	T	0.32164	0.0820	M	0.73962	2.25	0.47737	D	0.999502	P;D;P	0.54964	0.956;0.969;0.829	P;P;B	0.50049	0.629;0.462;0.322	T	0.15206	-1.0445	10	0.72032	D	0.01	-9.7192	15.2802	0.73778	0.0:0.0:0.0:1.0	.	186;186;611	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	T	611;186;186;18	ENSP00000347978:I186T;ENSP00000442117:I186T	ENSP00000347978:I186T	I	+	2	0	ERCC5	102308654	1.000000	0.71417	0.817000	0.32601	0.935000	0.57460	7.384000	0.79751	2.000000	0.58554	0.533000	0.62120	ATA	-	NULL		0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	protein_coding	OTTHUMT00000045708.1	T			102308654	1	no_errors	NM_000123	genbank	human	reviewed	54_36p	missense	SNP	0.98	C
RBBP6	5930	genome.wustl.edu	37	16	24560271	24560271	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr16:24560271G>A	ENST00000319715.4	+	3	704	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.R91Q|RBBP6_ENST00000452655.2_Missense_Mutation_p.R91Q|RBBP6_ENST00000381039.3_Missense_Mutation_p.R91Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	91					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R91Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTAGAAGTCGAACTGAACCA	0.269																																																1	Substitution - Missense(1)	ovary(1)	16											87.0	76.0	80.0					16																	24560271		2197	4297	6494	24467772	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.272G>A	16.37:g.24560271G>A	ENSP00000317872:p.Arg91Gln		24467772	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	HMMPfam_zf-CCHC,HMMPfam_U-box,HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,superfamily_RING/U-box	p.R91Q	ENST00000319715.4	37	c.272	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249550	0.80024	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.44083	2.23;0.93;2.42;2.46	5.25	5.25	0.73442	.	0.257891	0.33092	N	0.005286	T	0.55097	0.1899	L	0.37630	1.12	0.51233	D	0.999915	D;D;D;D	0.89917	0.994;1.0;1.0;0.981	B;D;D;P	0.81914	0.436;0.995;0.988;0.565	T	0.43972	-0.9358	10	0.23891	T	0.37	-8.805	19.2086	0.93746	0.0:0.0:1.0:0.0	.	91;91;91;91	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	Q	91	ENSP00000370427:R91Q;ENSP00000390537:R91Q;ENSP00000317872:R91Q;ENSP00000316291:R91Q	ENSP00000317872:R91Q	R	+	2	0	RBBP6	24467772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.494000	0.81503	2.616000	0.88540	0.585000	0.79938	CGA	-	NULL		0.269	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	G	NM_006910		24467772	1	no_errors	NM_006910	genbank	human	reviewed	54_36p	missense	SNP	1	A
OR1A1	8383	genome.wustl.edu	37	17	3119217	3119217	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:3119217G>A	ENST00000304094.1	+	1	303	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M101I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACGCAGATGTATTTCATGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											121.0	105.0	110.0					17																	3119217		2203	4300	6503	3065967	SO:0001583	missense	8383			AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.303G>A	17.37:g.3119217G>A	ENSP00000305207:p.Met101Ile		3065967	A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	-	p.M101I	ENST00000304094.1	37	c.303	CCDS11022.1	17	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161266	0.38119	.	.	ENSG00000172146	ENST00000304094	T	0.00305	8.18	4.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.095014	0.47455	D	0.000237	T	0.00144	0.0004	L	0.27053	0.805	0.35167	D	0.771183	B	0.26602	0.154	B	0.23419	0.046	T	0.67138	-0.5746	10	0.33940	T	0.23	.	9.1826	0.37152	0.0845:0.1484:0.7671:0.0	.	101	Q9P1Q5	OR1A1_HUMAN	I	101	ENSP00000305207:M101I	ENSP00000305207:M101I	M	+	3	0	OR1A1	3065967	0.961000	0.32948	1.000000	0.80357	0.814000	0.46013	0.777000	0.26718	2.584000	0.87258	0.436000	0.28706	ATG	-	NULL		0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A1	protein_coding	OTTHUMT00000207292.1	G	NM_014565		3065967	1	no_errors	NM_014565	genbank	human	provisional	54_36p	missense	SNP	1	A
KIAA0100	9703	genome.wustl.edu	37	17	26966631	26966631	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:26966631G>A	ENST00000528896.2	-	10	1119	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R206C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R206C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	349						extracellular region (GO:0005576)		p.R349C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACAATGCGTTGGCGACTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											143.0	126.0	131.0					17																	26966631		2203	4300	6503	23990758	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1045C>T	17.37:g.26966631G>A	ENSP00000436773:p.Arg349Cys		23990758	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	-	p.R349C	ENST00000528896.2	37	c.1045	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185731	0.78789	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.34472	1.63;1.36	5.78	5.78	0.91487	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48375	-0.9041	10	0.72032	D	0.01	.	14.8079	0.69971	0.0:0.0:0.8559:0.144	.	349;349	F6XS94;Q14667	.;K0100_HUMAN	C	349;349;349;206	ENSP00000436773:R349C;ENSP00000446443:R206C	ENSP00000005905:R349C	R	-	1	0	KIAA0100	23990758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.629000	0.54266	2.733000	0.93635	0.591000	0.81541	CGC	-	NULL		0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	protein_coding	OTTHUMT00000390571.3	G	NM_014680		23990758	-1	no_errors	NM_014680	genbank	human	validated	54_36p	missense	SNP	1	A
TP53	7157	genome.wustl.edu	37	17	7577124	7577124	+	Frame_Shift_Del	DEL	C	C	-	rs121912657		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	-	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:7577124delC	ENST00000269305.4	-	8	1003	c.814delG	c.(814-816)gtgfs	p.V272fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V272fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V272fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V272fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.V272fs	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62.0	54.0	57.0					17																	7577124		2203	4300	6503	7517849	SO:0001589	frameshift_variant	7157	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.814delG	17.37:g.7577124delC	ENSP00000269305:p.Val272fs		7517849	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD	p.V272fs	ENST00000269305.4	37	c.814	CCDS11118.1	17																																																																																			(deletion:cds_exon[7517744;7517880])	HMMPfam_P53		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517849	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1	-
SEC14L1	6397	genome.wustl.edu	37	17	75208031	75208032	+	Splice_Site	DNP	GA	GA	TT			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	GA	GA	GA	TT	GA	GA	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr17:75208031_75208032GA>TT	ENST00000413679.2	+	15	1914_1915	c.1611_1612GA>TT	c.(1609-1614)gaGAtt>gaTTtt	p.537_538EI>DF	SEC14L1_ENST00000431431.2_Splice_Site_p.503_504EI>DF|SEC14L1_ENST00000436233.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000392476.2_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000585618.1_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000430767.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000443798.4_Splice_Site_p.537_538EI>DF|SEC14L1_ENST00000591437.1_Splice_Site_p.503_504EI>DF	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	537	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTCTTTTTCAGATTCTCATTCA	0.55																																																0			17																																								72719627	SO:0001630	splice_region_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		Exception_encountered	17.37:g.75208031_75208032delinsTT			72719626	A8K4E8|B4DDI5|D5G3K1|Q99780	Splice_Site	DNP	-	e13-1	ENST00000413679.2	37	c.1612-1_-0	CCDS11752.1	17																																																																																			-	-		0.550	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	protein_coding	OTTHUMT00000436240.1	GA	NM_003003	Missense_Mutation	72719627	1	no_errors	NM_001039573	genbank	human	reviewed	54_36p	splice_site	DNP	1.000:1.000	TT
SIGLEC8	27181	genome.wustl.edu	37	19	51955692	51955692	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr19:51955692C>A	ENST00000321424.3	-	7	1507	c.1441G>T	c.(1441-1443)Gca>Tca	p.A481S	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A388S|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.A372S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	481					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.A481S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGTCTCTGCAGTTTCTCGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	19											130.0	119.0	123.0					19																	51955692		2203	4300	6503	56647504	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1441G>T	19.37:g.51955692C>A	ENSP00000321077:p.Ala481Ser		56647504	Q7Z728	Missense_Mutation	SNP	-	p.A481S	ENST00000321424.3	37	c.1441	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032462	0.35893	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64803	1.19;-0.12;0.96	1.31	0.236	0.15471	.	.	.	.	.	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	P;P;P	0.52061	0.917;0.95;0.917	B;B;B	0.42495	0.218;0.389;0.218	T	0.27971	-1.0058	9	0.87932	D	0	.	3.3711	0.07222	0.0:0.7184:0.0:0.2816	.	372;388;481	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	S	372;481;388	ENSP00000389142:A372S;ENSP00000321077:A481S;ENSP00000339448:A388S	ENSP00000321077:A481S	A	-	1	0	SIGLEC8	56647504	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.042000	0.01414	0.120000	0.18254	0.502000	0.49764	GCA	-	NULL		0.517	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	C	NM_014442		56647504	-1	no_errors	NM_014442	genbank	human	validated	54_36p	missense	SNP		A
MFSD9	84804	genome.wustl.edu	37	2	103335468	103335468	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:103335468T>A	ENST00000258436.5	-	6	879	c.836A>T	c.(835-837)aAc>aTc	p.N279I	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	279					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N279I(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AAACAGCAGGTTCTTCATGTT	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											99.0	77.0	84.0					2																	103335468		2203	4300	6503	102701900	SO:0001583	missense	84804				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.836A>T	2.37:g.103335468T>A	ENSP00000258436:p.Asn279Ile		102701900	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	-	p.N279I	ENST00000258436.5	37	c.836	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839579	0.32513	.	.	ENSG00000135953	ENST00000258436	T	0.57107	0.42	4.97	-2.03	0.07365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.124210	0.06278	N	0.696904	T	0.40015	0.1100	L	0.40543	1.245	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.31724	-0.9933	10	0.34782	T	0.22	-10.8014	6.3304	0.21266	0.0:0.3537:0.2211:0.4252	.	279	Q8NBP5	MFSD9_HUMAN	I	279	ENSP00000258436:N279I	ENSP00000258436:N279I	N	-	2	0	MFSD9	102701900	0.020000	0.18652	0.280000	0.24747	0.120000	0.20174	-0.016000	0.12613	-0.049000	0.13379	-0.937000	0.02696	AAC	-	NULL		0.567	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	protein_coding	OTTHUMT00000253295.2	T	NM_032718		102701900	-1	no_errors	NM_032718	genbank	human	validated	54_36p	missense	SNP	0.03	A
BIN1	274	genome.wustl.edu	37	2	127827574	127827574	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:127827574G>T	ENST00000316724.5	-	5	819	c.408C>A	c.(406-408)atC>atA	p.I136I	BIN1_ENST00000352848.3_Silent_p.I136I|BIN1_ENST00000393040.3_Silent_p.I136I|BIN1_ENST00000351659.3_Silent_p.I136I|BIN1_ENST00000409400.1_Silent_p.I136I|BIN1_ENST00000393041.3_Silent_p.I136I|BIN1_ENST00000348750.4_Silent_p.I136I|BIN1_ENST00000357970.3_Silent_p.I136I|BIN1_ENST00000376113.2_Silent_p.I136I|BIN1_ENST00000259238.4_Silent_p.I136I|BIN1_ENST00000346226.3_Silent_p.I136I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	136	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.I136I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCTCACCTTGATGTCGGGGA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	2											118.0	94.0	102.0					2																	127827574		2203	4300	6503	127544044	SO:0001819	synonymous_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.408C>A	2.37:g.127827574G>T			127544044	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_BAR	p.I136	ENST00000316724.5	37	c.408	CCDS2138.1	2																																																																																			-	HMMPfam_BAR		0.612	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	protein_coding	OTTHUMT00000254298.2	G	NM_139343		127544044	-1	no_errors	NM_139343	genbank	human	reviewed	54_36p	silent	SNP	1	T
CHRNA1	1134	genome.wustl.edu	37	2	175618202	175618202	+	Intron	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:175618202G>T	ENST00000261007.5	-	7	920				CHRNA1_ENST00000348749.5_Intron|CHRNA1_ENST00000409323.1_Nonsense_Mutation_p.C269*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000409542.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	ATCAGCGTCAGCAGCAGCAGT	0.522																																																0			2											168.0	161.0	164.0					2																	175618202		2203	4300	6503	175326448	SO:0001627	intron_variant	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.853+28C>A	2.37:g.175618202G>T			175326448	B4DRV6|D3DPE8	Nonsense_Mutation	SNP	-	p.C269*	ENST00000261007.5	37	c.807	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532223	0.45073	.	.	ENSG00000138435	ENST00000409323	.	.	.	4.55	0.997	0.19851	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8627	0.09002	0.0972:0.1381:0.565:0.1997	.	.	.	.	X	269	.	ENSP00000386684:C269X	C	-	3	2	CHRNA1	175326448	0.052000	0.20516	0.171000	0.22900	0.039000	0.13416	1.361000	0.34136	0.451000	0.26802	0.557000	0.71058	TGC	-	NULL		0.522	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	protein_coding	OTTHUMT00000334116.1	G			175326448	-1	no_errors	ENST00000409323	ensembl	human	known	54_36p	nonsense	SNP		T
PDE11A	50940	genome.wustl.edu	37	2	178862711	178862711	+	Intron	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:178862711C>A	ENST00000286063.6	-	2	1389				AC011998.1_ENST00000457053.1_RNA|PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AACCTGCTCACAGAAATATGT	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2																																								178570957	SO:0001627	intron_variant	728664	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1071+16317G>T	2.37:g.178862711C>A			178570957	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	RNA	SNP	-	NULL	ENST00000286063.6	37	NULL	CCDS33334.1	2																																																																																			-	-		0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728664	protein_coding	OTTHUMT00000334313.2	C			178570957	-1	pseudogene	XR_015711	genbank	human	model	54_36p	rna	SNP	1	A
TTN	7273	genome.wustl.edu	37	2	179436090	179436090	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:179436090G>T	ENST00000591111.1	-	276	70070	c.69846C>A	c.(69844-69846)gaC>gaA	p.D23282E	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15983E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16050E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24923E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15858E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22355E			Q8WZ42	TITIN_HUMAN	titin	23282	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.		D -> N (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D22353E(1)|p.D15858E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCATGCTGTCCCTGGAGG	0.473																																																2	Substitution - Missense(2)	ovary(2)	2											119.0	112.0	114.0					2																	179436090		1938	4164	6102	179144336	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69846C>A	2.37:g.179436090G>T	ENSP00000465570:p.Asp23282Glu		179144336	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	-	p.T22355K	ENST00000591111.1	37	c.67064		2	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343001	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.29	4.4	0.53042	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38983	0.1061	L	0.28115	0.83	0.48040	D	0.999577	B;B;B;B	0.28026	0.198;0.198;0.198;0.198	B;B;B;B	0.30316	0.114;0.114;0.114;0.114	T	0.39522	-0.9610	9	0.87932	D	0	.	8.4495	0.32862	0.2212:0.0:0.7788:0.0	.	15858;15983;16050;23282	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	22355;15858;16050;15983;15856	ENSP00000343764:D22355E;ENSP00000434586:D15858E;ENSP00000340554:D16050E;ENSP00000352154:D15983E	ENSP00000340554:D16050E	D	-	3	2	TTN	179144336	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.032000	0.30178	2.636000	0.89361	0.650000	0.86243	GAC	-	NULL		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179144336	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_133378	genbank	human	reviewed	54_36p	missense	SNP	1	T
SDPR	8436	genome.wustl.edu	37	2	192711271	192711271	+	Silent	SNP	C	C	T	rs116535615	byFrequency	TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:192711271C>T	ENST00000304141.4	-	1	710	c.381G>A	c.(379-381)gcG>gcA	p.A127A	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response									p.A127A(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCTCTTTGACCGCGCGCGTGT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	2											70.0	63.0	66.0					2																	192711271		2203	4300	6503	192419516	SO:0001819	synonymous_variant	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.381G>A	2.37:g.192711271C>T			192419516		Silent	SNP	-	p.A127	ENST00000304141.4	37	c.381	CCDS2313.1	2																																																																																			-	NULL		0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	protein_coding	OTTHUMT00000334791.2	C	NM_004657		192419516	-1	no_errors	NM_004657	genbank	human	reviewed	54_36p	silent	SNP	0.58	T
PLB1	151056	genome.wustl.edu	37	2	28843845	28843845	+	Splice_Site	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:28843845G>T	ENST00000327757.5	+	49	3571	c.3527G>T	c.(3526-3528)aGg>aTg	p.R1176M	PLB1_ENST00000541605.1_Splice_Site_p.R141M|PLB1_ENST00000422425.2_Splice_Site_p.R1165M	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1176	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.R1176M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCCAGAGCTAGGTGAGTAGAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	2											82.0	66.0	71.0					2																	28843845		2203	4300	6503	28697349	SO:0001630	splice_region_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3527+1G>T	2.37:g.28843845G>T			28697349	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	HMMPfam_Lipase_GDSL;superfamily_SGNH hydrolase	p.R1176M	ENST00000327757.5	37	c.3527	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.131093|3.131093	0.56828|0.56828	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|T;T;T	.|0.46451	.|0.87;0.87;0.87	5.65|5.65	-3.33|-3.33	0.04958|0.04958	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|0.982681	.|0.08316	.|N	.|0.964538	T|T	0.57036|0.57036	0.2026|0.2026	M|M	0.80982|0.80982	2.52|2.52	0.32555|0.32555	N|N	0.53189|0.53189	.|D;D	.|0.60575	.|0.973;0.988	.|P;P	.|0.61940	.|0.896;0.878	T|T	0.64373|0.64373	-0.6423|-0.6423	5|10	.|0.52906	.|T	.|0.07	-6.585|-6.585	7.1893|7.1893	0.25816|0.25816	0.6524:0.1446:0.203:0.0|0.6524:0.1446:0.203:0.0	.|.	.|1165;1176	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	W|M	1164|1176;1165;141	.|ENSP00000330442:R1176M;ENSP00000416440:R1165M;ENSP00000437426:R141M	.|ENSP00000330442:R1176M	G|R	+|+	1|2	0|0	PLB1|PLB1	28697349|28697349	0.665000|0.665000	0.27466|0.27466	0.946000|0.946000	0.38457|0.38457	0.400000|0.400000	0.30750|0.30750	0.229000|0.229000	0.17833|0.17833	-0.472000|-0.472000	0.06881|0.06881	0.556000|0.556000	0.70494|0.70494	GGG|AGG	-	HMMPfam_Lipase_GDSL		0.577	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	protein_coding	OTTHUMT00000353348.2	G		Missense_Mutation	28697349	1	no_errors	NM_153021	genbank	human	validated	54_36p	missense	SNP	0.98	T
ALK	238	genome.wustl.edu	37	2	29940556	29940556	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:29940556G>T	ENST00000389048.3	-	2	1581	c.675C>A	c.(673-675)agC>agA	p.S225R	ALK_ENST00000431873.1_Missense_Mutation_p.S225R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	225					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S225R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATTCCAAGGAGCTATGACCTG	0.393			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Substitution - Missense(1)	ovary(1)	2											149.0	130.0	136.0					2																	29940556		2203	4300	6503	29794060	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.675C>A	2.37:g.29940556G>T	ENSP00000373700:p.Ser225Arg		29794060	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	MAM;HMMPfam_MAM;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like);EGF/Laminin;superfamily_EGF/Laminin;LDL receptor-like module;superfamily_LDL receptor-like module	p.S225R	ENST00000389048.3	37	c.675	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440447	0.25900	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77750	-1.12;2.72	5.25	0.0384	0.14200	.	.	.	.	.	T	0.53722	0.1814	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	8	.	.	.	.	2.4325	0.04475	0.2277:0.1288:0.5112:0.1323	.	225	Q9UM73	ALK_HUMAN	R	225	ENSP00000373700:S225R;ENSP00000414027:S225R	.	S	-	3	2	ALK	29794060	0.000000	0.05858	0.059000	0.19551	0.034000	0.12701	0.103000	0.15292	0.012000	0.14892	-0.136000	0.14681	AGC	-	NULL		0.393	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	G	NM_004304		29794060	-1	no_errors	NM_004304	genbank	human	reviewed	54_36p	missense	SNP	0.01	T
NRXN1	9378	genome.wustl.edu	37	2	50724586	50724586	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:50724586G>T	ENST00000406316.2	-	14	4240	c.2764C>A	c.(2764-2766)Caa>Aaa	p.Q922K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q962K|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q922K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q922K|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q914K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q914K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	922	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q922K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTAGGCTTGCAAGGTAGCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											134.0	123.0	126.0					2																	50724586		1928	4155	6083	50578090	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2764C>A	2.37:g.50724586G>T	ENSP00000384311:p.Gln922Lys		50578090	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_EGF/Laminin	p.Q922K	ENST00000406316.2	37	c.2764	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202225	0.79127	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.45744	1.44	0.50813	D	0.99989	D;D;D	0.63046	0.992;0.969;0.972	D;P;P	0.65233	0.933;0.737;0.622	T	0.76658	-0.2878	10	0.15499	T	0.54	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	962;922;914	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	962;922;914;922;963;914;922	ENSP00000385142:Q962K;ENSP00000384311:Q922K;ENSP00000434015:Q914K;ENSP00000385017:Q922K;ENSP00000385434:Q914K;ENSP00000385681:Q922K	ENSP00000385017:Q922K	Q	-	1	0	NRXN1	50578090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	CAA	-	NULL		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	G			50578090	-1	no_errors	NM_004801	genbank	human	reviewed	54_36p	missense	SNP	1	T
BMP10	27302	genome.wustl.edu	37	2	69093516	69093516	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:69093516T>A	ENST00000295379.1	-	2	680	c.522A>T	c.(520-522)aaA>aaT	p.K174N		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	174					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.K174N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATTATCCCCTTTGCTCTCCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											113.0	91.0	99.0					2																	69093516		2203	4300	6503	68947020	SO:0001583	missense	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.522A>T	2.37:g.69093516T>A	ENSP00000295379:p.Lys174Asn		68947020	Q53R17|Q6NTE0	Missense_Mutation	SNP	-	p.K174N	ENST00000295379.1	37	c.522	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	T	2.236	-0.374947	0.05034	.	.	ENSG00000163217	ENST00000295379	T	0.65549	-0.16	5.96	2.24	0.28232	Transforming growth factor-beta, N-terminal (1);	0.885859	0.10101	N	0.715924	T	0.28830	0.0715	N	0.02011	-0.69	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.21348	-1.0248	10	0.17832	T	0.49	.	2.4607	0.04540	0.2312:0.067:0.2396:0.4623	.	174	O95393	BMP10_HUMAN	N	174	ENSP00000295379:K174N	ENSP00000295379:K174N	K	-	3	2	BMP10	68947020	0.000000	0.05858	0.012000	0.15200	0.391000	0.30476	-0.110000	0.10824	0.452000	0.26830	0.528000	0.53228	AAA	-	NULL		0.448	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	protein_coding	OTTHUMT00000251768.1	T	NM_014482		68947020	-1	no_errors	NM_014482	genbank	human	reviewed	54_36p	missense	SNP		A
LRRTM1	347730	genome.wustl.edu	37	2	80529619	80529619	+	Silent	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:80529619C>A	ENST00000295057.3	-	2	1982	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V442V|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	442					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V442V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCACCAGGACCACGATGAGGA	0.602										HNSCC(69;0.2)																																						1	Substitution - coding silent(1)	ovary(1)	2											106.0	93.0	97.0					2																	80529619		2203	4300	6503	80383130	SO:0001819	synonymous_variant	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1326G>T	2.37:g.80529619C>A			80383130	A8K397|D6W5K1|Q96DN1	Silent	SNP	-	p.V442	ENST00000295057.3	37	c.1326	CCDS1966.1	2																																																																																			-	NULL		0.602	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	protein_coding	OTTHUMT00000313614.1	C	NM_178839		80383130	-1	no_errors	NM_178839	genbank	human	validated	54_36p	silent	SNP	1	A
SATB2	23314	genome.wustl.edu	37	2	200137336	200137336	+	Silent	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr2:200137336C>T	ENST00000417098.1	-	11	2616	c.1800G>A	c.(1798-1800)gcG>gcA	p.A600A	SATB2_ENST00000428695.1_Silent_p.A482A|SATB2_ENST00000443023.1_Silent_p.A541A|SATB2_ENST00000260926.5_Silent_p.A600A|SATB2_ENST00000457245.1_Silent_p.A600A	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	600					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.A600A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGGGGGAGGCGCTTCTTCTC	0.502																																					Colon(30;262 767 11040 24421 36230)											1	Substitution - coding silent(1)	ovary(1)	2											72.0	82.0	79.0					2																	200137336		2203	4300	6503	199845581	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1800G>A	2.37:g.200137336C>T			199845581	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	-	p.A600	ENST00000417098.1	37	c.1800	CCDS2327.1	2																																																																																			-	NULL		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	protein_coding	OTTHUMT00000256140.1	C	NM_015265		199845581	-1	no_errors	NM_015265	genbank	human	validated	54_36p	silent	SNP	0.75	T
SYCP2	10388	genome.wustl.edu	37	20	58455357	58455357	+	Splice_Site	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr20:58455357C>T	ENST00000357552.3	-	31	3167		c.e31+1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.?(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAATTTCTTACTTGATTTTCC	0.274																																																1	Unknown(1)	ovary(1)	20											99.0	99.0	99.0					20																	58455357		2186	4294	6480	57888752	SO:0001630	splice_region_variant	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2941+1G>A	20.37:g.58455357C>T			57888752	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	-	e29+1	ENST00000357552.3	37	c.2941+1	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454481	0.63290	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4437	0.87573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57888752	1.000000	0.71417	0.990000	0.47175	0.755000	0.42902	3.255000	0.51484	2.859000	0.98148	0.591000	0.81541	.	-	-		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	C	NM_014258	Intron	57888752	-1	no_errors	NM_014258	genbank	human	reviewed	54_36p	splice_site	SNP	1	T
POTED	317754	genome.wustl.edu	37	21	14992565	14992565	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr21:14992565A>G	ENST00000299443.5	+	5	1056	c.1004A>G	c.(1003-1005)gAt>gGt	p.D335G	RNU6-286P_ENST00000384745.1_RNA	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	335						plasma membrane (GO:0005886)		p.D335G(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TCTTCTCAAGATCTATCTGGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	21											1.0	1.0	1.0					21																	14992565		1	6	7	13914436	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1004A>G	21.37:g.14992565A>G	ENSP00000299443:p.Asp335Gly		13914436	C9JCF7	Missense_Mutation	SNP	superfamily_Ankyrin repeat;HMMPfam_Ank	p.D335G	ENST00000299443.5	37	c.1004	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	A	10.02	1.234877	0.22626	.	.	ENSG00000166351	ENST00000299443	T	0.59906	0.23	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.36932	U	0.002332	T	0.66076	0.2753	M	0.80028	2.48	0.09310	N	1	P	0.47677	0.899	P	0.57502	0.822	T	0.56032	-0.8046	10	0.72032	D	0.01	.	4.0975	0.09998	1.0:0.0:0.0:0.0	.	335	Q86YR6	POTED_HUMAN	G	335	ENSP00000299443:D335G	ENSP00000299443:D335G	D	+	2	0	POTED	13914436	0.998000	0.40836	0.010000	0.14722	0.023000	0.10783	3.339000	0.52135	0.662000	0.31006	0.155000	0.16302	GAT	-	NULL		0.368	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	protein_coding	OTTHUMT00000157660.1	A	NM_174981		13914436	1	no_errors	NM_174981	genbank	human	validated	54_36p	missense	SNP	0.02	G
CXADR	1525	genome.wustl.edu	37	21	18924200	18924200	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr21:18924200T>A	ENST00000284878.7	+	3	1092	c.344T>A	c.(343-345)aTt>aAt	p.I115N	CXADR_ENST00000400169.1_Missense_Mutation_p.I115N|CXADR_ENST00000400165.1_Missense_Mutation_p.I115N|CXADR_ENST00000306618.10_Missense_Mutation_p.I115N|CXADR_ENST00000400166.1_Missense_Mutation_p.I115N|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	115	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.I115N(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CTGTCAGATATTGGCACATAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	21											89.0	90.0	90.0					21																	18924200		2203	4299	6502	17846071	SO:0001583	missense	1525			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.344T>A	21.37:g.18924200T>A	ENSP00000284878:p.Ile115Asn		17846071	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	HMMPfam_I-set;HMMPfam_V-set;superfamily_Immunoglobulin	p.I115N	ENST00000284878.7	37	c.344	CCDS33519.1	21	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293550	0.23564	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.04	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.331011	0.36134	N	0.002763	T	0.37404	0.1002	N	0.03324	-0.35	0.35004	D	0.756212	D;P;P;P	0.59767	0.986;0.924;0.617;0.938	P;B;B;P	0.50934	0.654;0.42;0.315;0.554	T	0.45702	-0.9243	10	0.14252	T	0.57	.	2.1016	0.03681	0.1613:0.09:0.1681:0.5806	.	115;115;115;115	P78310-4;B7WPI3;P78310;P78310-5	.;.;CXAR_HUMAN;.	N	115	ENSP00000284878:I115N;ENSP00000383030:I115N;ENSP00000383033:I115N;ENSP00000383029:I115N;ENSP00000303395:I115N	ENSP00000284878:I115N	I	+	2	0	CXADR	17846071	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	4.355000	0.59424	0.974000	0.38366	0.533000	0.62120	ATT	-	HMMPfam_V-set		0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	protein_coding	OTTHUMT00000158209.1	T			17846071	1	no_errors	NM_001338	genbank	human	reviewed	54_36p	missense	SNP	1	A
TRIOBP	11078	genome.wustl.edu	37	22	38121683	38121683	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr22:38121683C>A	ENST00000406386.3	+	7	3375	c.3120C>A	c.(3118-3120)ttC>ttA	p.F1040L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1040					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.F1040L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTTCCCCTTCTTCCCAGAGC	0.657																																																1	Substitution - Missense(1)	ovary(1)	22											72.0	81.0	78.0					22																	38121683		1942	4117	6059	36451629	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3120C>A	22.37:g.38121683C>A	ENSP00000384312:p.Phe1040Leu		36451629	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH;superfamily_PH domain-like	p.F1040L	ENST00000406386.3	37	c.3120	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272287	0.59649	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.34072	1.38	4.86	2.74	0.32292	.	.	.	.	.	T	0.38214	0.1032	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	P	0.55391	0.775	T	0.11446	-1.0587	9	0.54805	T	0.06	.	7.7211	0.28733	0.0:0.8099:0.0:0.1901	.	1040	Q9H2D6	TARA_HUMAN	L	1040	ENSP00000384312:F1040L	ENSP00000384312:F1040L	F	+	3	2	TRIOBP	36451629	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	0.600000	0.24104	0.642000	0.30620	0.456000	0.33151	TTC	-	NULL		0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	C			36451629	1	no_errors	NM_001039141	genbank	human	reviewed	54_36p	missense	SNP	1	A
MYH15	22989	genome.wustl.edu	37	3	108205366	108205366	+	Silent	SNP	G	G	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:108205366G>C	ENST00000273353.3	-	11	995	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	313	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L313L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGATACCAGGAGCAGGTCTA	0.428																																																1	Substitution - coding silent(1)	ovary(1)	3											80.0	80.0	80.0					3																	108205366		1875	4106	5981	109688056	SO:0001819	synonymous_variant	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.939C>G	3.37:g.108205366G>C			109688056		Silent	SNP	-	p.L313	ENST00000273353.3	37	c.939	CCDS43127.1	3																																																																																			-	NULL		0.428	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	G	XM_036988		109688056	-1	no_errors	NM_014981	genbank	human	validated	54_36p	silent	SNP	0.972	C
POLQ	10721	genome.wustl.edu	37	3	121187162	121187162	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:121187162G>A	ENST00000264233.5	-	23	6963	c.6835C>T	c.(6835-6837)Ccc>Tcc	p.P2279S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2279					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P2414S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCCCATGGGAAGTAGGCCT	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)											1	Substitution - Missense(1)	ovary(1)	3											149.0	146.0	147.0					3																	121187162		2203	4300	6503	122669852	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6835C>T	3.37:g.121187162G>A	ENSP00000264233:p.Pro2279Ser		122669852	O95160|Q6VMB5	Missense_Mutation	SNP	HMMPfam_DNA_pol_A;HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_Ribonuclease H-like;superfamily_Immunoglobulin;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_DNA/RNA polymerases	p.P2279S	ENST00000264233.5	37	c.6835	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488372	0.64074	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50548	0.74	5.24	3.43	0.39272	.	0.558653	0.19017	N	0.124911	T	0.34019	0.0883	N	0.22421	0.69	0.09310	N	1	P;P	0.48294	0.78;0.908	B;B	0.43916	0.335;0.436	T	0.09684	-1.0663	10	0.23302	T	0.38	.	11.0065	0.47637	0.074:0.133:0.793:0.0	.	2279;1451	O75417;O75417-2	DPOLQ_HUMAN;.	S	1902;2279;2415	ENSP00000264233:P2279S	ENSP00000264233:P2279S	P	-	1	0	POLQ	122669852	0.005000	0.15991	0.087000	0.20705	0.818000	0.46254	0.600000	0.24104	1.557000	0.49525	0.650000	0.86243	CCC	-	HMMPfam_DNA_pol_A		0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420		122669852	-1	no_errors	NM_199420	genbank	human	validated	54_36p	missense	SNP		A
LSM3	27258	genome.wustl.edu	37	3	14239604	14239604	+	Silent	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:14239604G>T	ENST00000306024.3	+	4	800	c.297G>T	c.(295-297)ctG>ctT	p.L99L		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	99					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L99L(1)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CCCCTCCACTGAGAGTTGGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	3											88.0	86.0	87.0					3																	14239604		2203	4300	6503	14214608	SO:0001819	synonymous_variant	27258			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.297G>T	3.37:g.14239604G>T			14214608	Q6IAH0|Q9Y4Z1	Silent	SNP	-	p.L99	ENST00000306024.3	37	c.297	CCDS2619.1	3																																																																																			-	NULL		0.418	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM3	protein_coding	OTTHUMT00000252078.3	G	NM_014463		14214608	1	no_errors	NM_014463	genbank	human	validated	54_36p	silent	SNP	0.87	T
MYLK	4638	genome.wustl.edu	37	3	123348324	123348324	+	Missense_Mutation	SNP	A	A	G	rs146600235		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:123348324A>G	ENST00000475616.1	-	27	5110	c.5111T>C	c.(5110-5112)aTg>aCg	p.M1704T	MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000346322.5_Missense_Mutation_p.M1635T|MYLK_ENST00000354792.5_Missense_Mutation_p.M504T|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.M1704T|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1704	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.M1704T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATTACTTCATATCTTTCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	3						A	THR/MET,THR/MET,,	1,4405	2.1+/-5.4	0,1,2202	113.0	105.0	108.0		5111,4904,,	5.7	1.0	3	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense,intron,intron	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	81,81,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,	1704/1915,1635/1846,,	123348324	1,13005	2203	4300	6503	124831014	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5111T>C	3.37:g.123348324A>G	ENSP00000418335:p.Met1704Thr		124831014	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	HMMPfam_Pkinase;HMMPfam_fn3;superfamily_Fibronectin type III;superfamily_Protein kinase-like (PK-like);HMMPfam_I-set;superfamily_Immunoglobulin	p.M1704T	ENST00000475616.1	37	c.5111	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231121	0.79688	2.27E-4	0.0	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46908	0.1417	N	0.12569	0.235	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.994;0.997	D;D;D	0.79784	0.983;0.983;0.993	T	0.50808	-0.8784	9	0.40728	T	0.16	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1704;1635;1704	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	T	1704;1635;504;1704	ENSP00000353452:M1704T;ENSP00000320622:M1635T;ENSP00000346846:M504T;ENSP00000418335:M1704T	ENSP00000320622:M1635T	M	-	2	0	MYLK	124831014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	ATG	-	HMMPfam_Pkinase		0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	A	NM_053025		124831014	-1	no_errors	NM_053025	genbank	human	reviewed	54_36p	missense	SNP	1	G
TRPC1	7220	genome.wustl.edu	37	3	142522858	142522858	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:142522858C>A	ENST00000476941.1	+	11	2283	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	TRPC1_ENST00000273482.6_Missense_Mutation_p.F565L|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	599					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.F565L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGTATATTTTCTCCTTAGCGC	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											111.0	101.0	104.0					3																	142522858		2203	4300	6503	144005548	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1797C>A	3.37:g.142522858C>A	ENSP00000419313:p.Phe599Leu		144005548	Q14CE4	Missense_Mutation	SNP	-	p.F565L	ENST00000476941.1	37	c.1695	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349575	0.61183	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98400	-4.91;-4.91	5.33	3.52	0.40303	Ion transport (1);	0.096368	0.64402	D	0.000001	D	0.98369	0.9458	M	0.77616	2.38	0.80722	D	1	B;P;D	0.67145	0.294;0.517;0.996	B;B;D	0.69824	0.165;0.226;0.966	D	0.98336	1.0536	10	0.72032	D	0.01	-13.0343	6.8532	0.24026	0.0:0.6555:0.1338:0.2107	.	565;599;565	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	599;565;118	ENSP00000419313:F599L;ENSP00000273482:F565L	ENSP00000273482:F565L	F	+	3	2	TRPC1	144005548	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.651000	0.24873	1.388000	0.46506	0.650000	0.86243	TTC	-	NULL		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	protein_coding	OTTHUMT00000354520.1	C	NM_003304		144005548	1	no_errors	NM_003304	genbank	human	validated	54_36p	missense	SNP	1	A
TNIK	23043	genome.wustl.edu	37	3	170819364	170819364	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	C	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:170819364G>C	ENST00000436636.2	-	22	2809	c.2465C>G	c.(2464-2466)cCa>cGa	p.P822R	TNIK_ENST00000369326.5_Missense_Mutation_p.P800R|TNIK_ENST00000475336.1_Missense_Mutation_p.P730R|TNIK_ENST00000284483.8_Missense_Mutation_p.P814R|TNIK_ENST00000357327.5_Missense_Mutation_p.P793R|TNIK_ENST00000470834.1_Missense_Mutation_p.P785R|TNIK_ENST00000341852.6_Missense_Mutation_p.P738R|TNIK_ENST00000538048.1_Missense_Mutation_p.P774R|TNIK_ENST00000460047.1_Missense_Mutation_p.P759R|TNIK_ENST00000488470.1_Missense_Mutation_p.P767R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	822	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P822R(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTCTTCATTGGGCGGTTTGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	3											254.0	239.0	244.0					3																	170819364		2046	4202	6248	172302058	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2465C>G	3.37:g.170819364G>C	ENSP00000399511:p.Pro822Arg		172302058	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	HMMPfam_Pkinase;HMMPfam_CNH;superfamily_Protein kinase-like (PK-like);superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase	p.P822R	ENST00000436636.2	37	c.2465	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166274	0.78339	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.85130	0.996;0.994;0.996;0.996;0.997;0.994;0.996;0.993	D	0.93041	0.6457	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	730;785;759;738;814;793;767;822	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	822;800;774;738;814;730;793;759;767;785	ENSP00000399511:P822R;ENSP00000358332:P800R;ENSP00000443278:P774R;ENSP00000345352:P738R;ENSP00000284483:P814R;ENSP00000418156:P730R;ENSP00000349880:P793R;ENSP00000418916:P759R;ENSP00000418378:P767R;ENSP00000419990:P785R	ENSP00000284483:P814R	P	-	2	0	TNIK	172302058	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.038000	0.64177	2.857000	0.98124	0.650000	0.86243	CCA	-	NULL		0.463	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	protein_coding	OTTHUMT00000352973.2	G	XM_039796		172302058	-1	no_errors	NM_015028	genbank	human	provisional	54_36p	missense	SNP	1	C
CLASP2	23122	genome.wustl.edu	37	3	33614665	33614665	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:33614665C>A	ENST00000468888.2	-	26	2709	c.2663G>T	c.(2662-2664)tGg>tTg	p.W888L	CLASP2_ENST00000307312.7_Missense_Mutation_p.W368L|CLASP2_ENST00000359576.5_Missense_Mutation_p.W879L|CLASP2_ENST00000539981.1_Missense_Mutation_p.W657L|CLASP2_ENST00000480013.1_Missense_Mutation_p.W667L|CLASP2_ENST00000461133.3_Missense_Mutation_p.W646L|CLASP2_ENST00000399362.4_Missense_Mutation_p.W887L			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	667	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.W879L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTTTCTGACCAATTGGAACT	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											268.0	252.0	257.0					3																	33614665		1905	4128	6033	33589669	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2663G>T	3.37:g.33614665C>A	ENSP00000419974:p.Trp888Leu		33589669	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	HMMPfam_HEAT;superfamily_ARM repeat	p.W879L	ENST00000468888.2	37	c.2636		3	.	.	.	.	.	.	.	.	.	.	C	36	5.772308	0.96922	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.120194	0.64402	D	0.000010	D	0.82430	0.5035	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.997	T	0.82499	-0.0427	10	0.62326	D	0.03	-8.6062	19.9058	0.97007	0.0:1.0:0.0:0.0	.	667;879;887	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	L	888;887;879;368;657;667;646;178	ENSP00000419974:W888L;ENSP00000382297:W887L;ENSP00000352581:W879L;ENSP00000304743:W368L;ENSP00000439039:W657L;ENSP00000417518:W667L;ENSP00000419305:W646L	ENSP00000304743:W368L	W	-	2	0	CLASP2	33589669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.506000	0.60428	2.779000	0.95612	0.650000	0.86243	TGG	-	NULL		0.403	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	protein_coding	OTTHUMT00000344320.4	C	NM_001207044		33589669	-1	no_errors	NM_015097	genbank	human	validated	54_36p	missense	SNP	1	A
SETD2	29072	genome.wustl.edu	37	3	47163179	47163179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:47163179C>A	ENST00000409792.3	-	3	2989	c.2947G>T	c.(2947-2949)Gaa>Taa	p.E983*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	983					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E983*(1)|p.E480*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCCTCTTTCATCTAAAGAG	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	ovary(2)	3											88.0	87.0	87.0					3																	47163179		2203	4300	6503	47138183	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2947G>T	3.37:g.47163179C>A	ENSP00000386759:p.Glu983*		47138183	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	HMMPfam_WW;superfamily_WW domain;HMMPfam_SET;superfamily_Ferritin-like;HMMPfam_SRI_2;superfamily_SET domain	p.E480*	ENST00000409792.3	37	c.1438	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960320	0.74016	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.16	4.2	0.49525	.	0.353337	0.24139	N	0.041181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.0153	0.47685	0.0:0.8558:0.0:0.1442	.	.	.	.	X	983;983;983;939	.	ENSP00000386759:E983X	E	-	1	0	SETD2	47138183	0.213000	0.23551	1.000000	0.80357	0.124000	0.20399	1.658000	0.37376	2.667000	0.90743	0.650000	0.86243	GAA	-	NULL		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	C	NM_014159		47138183	-1	no_errors	NM_014159	genbank	human	reviewed	54_36p	nonsense	SNP	0.09	A
CCDC71	64925	genome.wustl.edu	37	3	49200748	49200748	+	Silent	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:49200748C>T	ENST00000321895.6	-	2	1000	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	298								p.K298K(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTCGAGCCACCTTGGCTTGGG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	3											56.0	47.0	50.0					3																	49200748		2203	4300	6503	49175752	SO:0001819	synonymous_variant	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.894G>A	3.37:g.49200748C>T			49175752	Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	-	p.K298	ENST00000321895.6	37	c.894	CCDS2790.1	3																																																																																			-	NULL		0.622	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC71	protein_coding	OTTHUMT00000345980.1	C	NM_022903		49175752	-1	no_errors	NM_022903	genbank	human	validated	54_36p	silent	SNP	1	T
ZDHHC19	131540	genome.wustl.edu	37	3	195938078	195938078	+	Silent	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr3:195938078G>A	ENST00000296326.3	-	1	188	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	37						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L37L(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AAGACCAGCAGCACCACATTG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	3											120.0	148.0	139.0					3																	195938078		2089	4215	6304	197422475	SO:0001819	synonymous_variant	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.109C>T	3.37:g.195938078G>A			197422475	A8MSY6|B3KVI1	Silent	SNP	-	p.L37	ENST00000296326.3	37	c.109	CCDS43190.1	3																																																																																			-	NULL		0.562	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	protein_coding	OTTHUMT00000341533.1	G	NM_144637		197422475	-1	no_errors	NM_001039617	genbank	human	validated	54_36p	silent	SNP	0.17	A
KDR	3791	genome.wustl.edu	37	4	55981161	55981161	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:55981161C>T	ENST00000263923.4	-	5	833	c.538G>A	c.(538-540)Gac>Aac	p.D180N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	180	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D180N(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTTGCTGTCCCAGGAAATT	0.368			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	ovary(1)	4											64.0	63.0	63.0					4																	55981161		2203	4300	6503	55675918	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.538G>A	4.37:g.55981161C>T	ENSP00000263923:p.Asp180Asn		55675918	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr;superfamily_Protein kinase-like (PK-like);HMMPfam_I-set;HMMPfam_V-set;superfamily_Immunoglobulin	p.D180N	ENST00000263923.4	37	c.538	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974181	0.74246	.	.	ENSG00000128052	ENST00000263923	T	0.29397	1.57	5.9	5.9	0.94986	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.60012	1.86	0.80722	D	1	P;P	0.35656	0.514;0.476	B;B	0.33890	0.105;0.172	T	0.06445	-1.0826	10	0.48119	T	0.1	.	15.3556	0.74425	0.0:0.9317:0.0:0.0683	.	180;180	P35968-2;P35968	.;VGFR2_HUMAN	N	180	ENSP00000263923:D180N	ENSP00000263923:D180N	D	-	1	0	KDR	55675918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.366000	0.59492	2.788000	0.95919	0.655000	0.94253	GAC	-	NULL		0.368	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	C			55675918	-1	no_errors	NM_002253	genbank	human	validated	54_36p	missense	SNP	1	T
GPRIN3	285513	genome.wustl.edu	37	4	90169744	90169744	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:90169744G>T	ENST00000609438.1	-	2	2036	c.1518C>A	c.(1516-1518)gaC>gaA	p.D506E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.D506E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	506								p.D506E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGCAATCTGGGTCTGTTTTGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	4											88.0	96.0	94.0					4																	90169744		2203	4300	6503	90388767	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1518C>A	4.37:g.90169744G>T	ENSP00000476603:p.Asp506Glu		90388767	Q8IVE4	Missense_Mutation	SNP	-	p.D506E	ENST00000609438.1	37	c.1518	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388735	0.04932	.	.	ENSG00000185477	ENST00000333209	T	0.08984	3.03	5.38	-3.69	0.04450	.	0.713798	0.11522	N	0.555623	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42783	-0.9431	10	0.02654	T	1	-3.9639	1.7548	0.02980	0.2005:0.3639:0.2035:0.2322	.	506	Q6ZVF9	GRIN3_HUMAN	E	506	ENSP00000328672:D506E	ENSP00000328672:D506E	D	-	3	2	GPRIN3	90388767	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.750000	0.04808	-0.679000	0.05217	-0.150000	0.13652	GAC	-	NULL		0.448	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	G	NM_198281		90388767	-1	no_errors	NM_198281	genbank	human	validated	54_36p	missense	SNP		T
TRMT10A	93587	genome.wustl.edu	37	4	100479349	100479349	+	Missense_Mutation	SNP	G	G	A	rs200328690		TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr4:100479349G>A	ENST00000273962.3	-	3	517	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TRMT10A_ENST00000394877.3_Missense_Mutation_p.R69C|TRMT10A_ENST00000394876.2_Missense_Mutation_p.R69C	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	69					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R69C(1)									TTCCTCTTGCGTTTTTCTTTT	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18005	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	4											174.0	146.0	155.0					4																	100479349		2203	4299	6502	100698372	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.205C>T	4.37:g.100479349G>A	ENSP00000273962:p.Arg69Cys		100698372	B2R8X7|Q9Y2T9	Missense_Mutation	SNP	-	p.R69C	ENST00000273962.3	37	c.205	CCDS3650.1	4	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.4	4.523683	0.85600	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.52983	1.99;1.99;1.99;1.23;0.64	5.78	5.78	0.91487	.	0.047587	0.85682	D	0.000000	T	0.66886	0.2835	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.70898	-0.4747	10	0.66056	D	0.02	-5.7241	20.3754	0.98918	0.0:0.0:1.0:0.0	.	69	Q8TBZ6	RG9D2_HUMAN	C	69	ENSP00000378343:R69C;ENSP00000273962:R69C;ENSP00000378342:R69C;ENSP00000397551:R69C;ENSP00000423628:R69C	ENSP00000273962:R69C	R	-	1	0	RG9MTD2	100698372	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.263000	0.65507	2.894000	0.99253	0.591000	0.81541	CGC	-	NULL		0.323	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RG9MTD2	protein_coding	OTTHUMT00000253668.1	G	NM_152292		100698372	-1	no_errors	NM_152292	genbank	human	validated	54_36p	missense	SNP	1	A
ZDHHC11B	653082	genome.wustl.edu	37	5	730566	730566	+	Silent	SNP	C	C	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr5:730566C>G	ENST00000382776.4	-	9	1040	c.1041G>C	c.(1039-1041)ccG>ccC	p.P347P	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000522356.1_5'UTR|ZDHHC11B_ENST00000508859.2_Silent_p.P358P			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	347						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						TAGATGTACTCGGGGCATCAT	0.378																																																0			5																																								783566	SO:0001819	synonymous_variant	653082					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.1041G>C	5.37:g.730566C>G			783566	A6NHR3	Silent	SNP	-	p.P347	ENST00000382776.4	37	c.1041		5																																																																																			-	NULL		0.378	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	protein_coding		C	XM_926053		783566	-1	no_errors	XM_926053	genbank	human	model	54_36p	silent	SNP		G
ADCY2	108	genome.wustl.edu	37	5	7802364	7802364	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr5:7802364G>A	ENST00000338316.4	+	21	2751	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	888					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V888I(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCGTCTGCGTCATGTTTGC	0.488																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	5											82.0	78.0	79.0					5																	7802364		2203	4300	6503	7855364	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2662G>A	5.37:g.7802364G>A	ENSP00000342952:p.Val888Ile		7855364	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	-	p.V888I	ENST00000338316.4	37	c.2662	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	31	5.078655	0.94050	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80653	-1.4;-1.4	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87987	0.2747	10	0.56958	D	0.05	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	708;888	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	888;41;721;708	ENSP00000342952:V888I;ENSP00000444803:V708I	ENSP00000342952:V888I	V	+	1	0	ADCY2	7855364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GTC	-	NULL		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	G	NM_020546		7855364	1	no_errors	NM_020546	genbank	human	reviewed	54_36p	missense	SNP	1	A
FEM1C	56929	genome.wustl.edu	37	5	114878877	114878877	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr5:114878877T>C	ENST00000274457.3	-	2	875	c.314A>G	c.(313-315)cAt>cGt	p.H105R		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	105					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.H105R(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		AGATGCTCCATGATTTAACAA	0.488																																																1	Substitution - Missense(1)	ovary(1)	5											78.0	76.0	77.0					5																	114878877		2202	4300	6502	114906776	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.314A>G	5.37:g.114878877T>C	ENSP00000274457:p.His105Arg		114906776	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	-	p.H105R	ENST00000274457.3	37	c.314	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	T	9.429	1.085116	0.20390	.	.	ENSG00000145780	ENST00000274457	T	0.65178	-0.14	5.52	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.053104	0.64402	D	0.000001	T	0.34919	0.0914	N	0.05199	-0.095	0.51482	D	0.99992	B	0.06786	0.001	B	0.08055	0.003	T	0.21348	-1.0248	10	0.09590	T	0.72	-19.6833	9.848	0.41039	0.0:0.1361:0.0:0.8639	.	105	Q96JP0	FEM1C_HUMAN	R	105	ENSP00000274457:H105R	ENSP00000274457:H105R	H	-	2	0	FEM1C	114906776	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.505000	0.53356	2.095000	0.63458	0.482000	0.46254	CAT	-	NULL		0.488	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	protein_coding	OTTHUMT00000250857.3	T	NM_020177		114906776	-1	no_errors	NM_020177	genbank	human	validated	54_36p	missense	SNP	1	C
TRMT11	60487	genome.wustl.edu	37	6	126317171	126317171	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:126317171G>T	ENST00000334379.5	+	3	318	c.197G>T	c.(196-198)cGg>cTg	p.R66L	TRMT11_ENST00000489934.1_3'UTR|TRMT11_ENST00000450358.1_Missense_Mutation_p.R66L|TRMT11_ENST00000368332.3_Missense_Mutation_p.R66L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	66					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.R66L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTGATGAAACGGACAGTGTGT	0.363											OREG0017650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	6											150.0	132.0	138.0					6																	126317171		2203	4300	6503	126358864	SO:0001583	missense	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.197G>T	6.37:g.126317171G>T	ENSP00000333934:p.Arg66Leu	1548	126358864	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	-	p.R66L	ENST00000334379.5	37	c.197	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977274	0.92982	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T	0.70045	-0.45;-0.38;-0.43	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88965	0.3396	10	0.87932	D	0	-3.7565	19.4836	0.95020	0.0:0.0:1.0:0.0	.	66;66	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	L	66;66;66;3;3	ENSP00000333934:R66L;ENSP00000405140:R66L;ENSP00000357316:R66L	ENSP00000333934:R66L	R	+	2	0	TRMT11	126358864	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.548000	0.90669	2.595000	0.87683	0.555000	0.69702	CGG	-	NULL		0.363	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	protein_coding		G	NM_021820		126358864	1	no_errors	NM_001031712	genbank	human	validated	54_36p	missense	SNP	1	T
SKIV2L	6499	genome.wustl.edu	37	6	31931858	31931858	+	Missense_Mutation	SNP	C	C	T	rs78026291	byFrequency	TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:31931858C>T	ENST00000375394.2	+	16	1929	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R413C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	606	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.R606C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTCCTGCAGCGCTGCCTTGC	0.642													C|||	6	0.00119808	0.0045	0.0	5008	,	,		20032	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	6						C	CYS/ARG	9,3013		0,9,1502	68.0	57.0	61.0		1816	5.7	1.0	6	dbSNP_131	61	0,5416		0,0,2708	yes	missense	SKIV2L	NM_006929.4	180	0,9,4210	TT,TC,CC		0.0,0.2978,0.1067	probably-damaging	606/1247	31931858	9,8429	1511	2708	4219	32039837	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1816C>T	6.37:g.31931858C>T	ENSP00000364543:p.Arg606Cys		32039837	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	-	p.R606C	ENST00000375394.2	37	c.1816	CCDS4731.1	6	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	16.07	3.019801	0.54576	0.002978	0.0	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.51071	0.85;0.72	5.69	5.69	0.88448	Helicase, C-terminal (1);	0.057657	0.64402	D	0.000002	T	0.43233	0.1238	L	0.53617	1.68	0.50313	D	0.999862	D	0.76494	0.999	P	0.51229	0.663	T	0.49011	-0.8983	10	0.87932	D	0	-18.7042	12.1152	0.53861	0.2745:0.7255:0.0:0.0	.	606	Q15477	SKIV2_HUMAN	C	606;448;413	ENSP00000364543:R606C;ENSP00000442645:R413C	ENSP00000364543:R606C	R	+	1	0	SKIV2L	32039837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.360000	0.52299	2.676000	0.91093	0.655000	0.94253	CGC	-	NULL		0.642	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	C			32039837	1	no_errors	NM_006929	genbank	human	reviewed	54_36p	missense	SNP	1	T
FBXO30	84085	genome.wustl.edu	37	6	146127275	146127275	+	Silent	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr6:146127275G>A	ENST00000237281.4	-	2	433	c.267C>T	c.(265-267)tgC>tgT	p.C89C		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	89							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C89C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATAGTACAGCACACCACAC	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											276.0	258.0	264.0					6																	146127275		2203	4300	6503	146168968	SO:0001819	synonymous_variant	84085			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.267C>T	6.37:g.146127275G>A			146168968	Q9BXZ7	Silent	SNP	-	p.C89	ENST00000237281.4	37	c.267	CCDS5208.1	6																																																																																			-	NULL		0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	protein_coding	OTTHUMT00000042570.2	G			146168968	-1	no_errors	NM_032145	genbank	human	reviewed	54_36p	silent	SNP	1	A
SLC26A7	115111	genome.wustl.edu	37	8	92350462	92350462	+	Splice_Site	SNP	T	T	G			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	T	T	T	G	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr8:92350462T>G	ENST00000276609.3	+	7	1117		c.e7+2		SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.?(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCACAAGGGTAATGTAGTCC	0.328																																																1	Unknown(1)	ovary(1)	8											114.0	108.0	110.0					8																	92350462		2203	4299	6502	92419638	SO:0001630	splice_region_variant	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.878+2T>G	8.37:g.92350462T>G			92419638		Splice_Site	SNP	-	e6+2	ENST00000276609.3	37	c.878+2	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951210	0.73787	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536;ENST00000520818	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5857	0.68322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92419638	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.140000	0.64807	2.177000	0.69029	0.528000	0.53228	.	-	-		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	T		Intron	92419638	1	no_errors	NM_134266	genbank	human	reviewed	54_36p	splice_site	SNP	1	G
HAS2	3037	genome.wustl.edu	37	8	122640983	122640983	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr8:122640983C>T	ENST00000303924.4	-	2	1135	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	200					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.A200T(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTCCCAGTGCTCTGAAGGCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											163.0	151.0	155.0					8																	122640983		2203	4300	6503	122710164	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.598G>A	8.37:g.122640983C>T	ENSP00000306991:p.Ala200Thr		122710164	Q32MM3	Missense_Mutation	SNP	HMMPfam_Glycos_transf_2;superfamily_Nucleotide-diphospho-sugar transferases	p.A200T	ENST00000303924.4	37	c.598	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.144100	0.94603	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.61040	0.14	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77172	-0.2685	10	0.36615	T	0.2	-19.1185	20.5827	0.99408	0.0:1.0:0.0:0.0	.	200	Q92819	HAS2_HUMAN	T	200	ENSP00000306991:A200T	ENSP00000306991:A200T	A	-	1	0	HAS2	122710164	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	GCA	-	NULL		0.438	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	protein_coding	OTTHUMT00000381150.2	C	NM_005328		122710164	-1	no_errors	NM_005328	genbank	human	reviewed	54_36p	missense	SNP	1	T
DFNB31	25861	genome.wustl.edu	37	9	117228648	117228648	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1427-01A-01W-0549-09	TCGA-24-1427-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	6511d3d4-722c-4702-a644-29bb98e5e5c3	4785e803-9790-4ea7-be30-e068433d045a	g.chr9:117228648G>A	ENST00000362057.3	-	3	1030	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	288	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.R288W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGGGACCGGCCGTCCCCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											68.0	70.0	69.0					9																	117228648		2203	4300	6503	116268469	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.862C>T	9.37:g.117228648G>A	ENSP00000354623:p.Arg288Trp		116268469	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	HMMPfam_PDZ;superfamily_PDZ domain-like	p.R288W	ENST00000362057.3	37	c.862	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888778	0.72524	.	.	ENSG00000095397	ENST00000362057	T	0.27890	1.64	5.01	3.98	0.46160	PDZ/DHR/GLGF (4);	0.100970	0.64402	D	0.000002	T	0.45115	0.1326	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.978	T	0.39121	-0.9629	10	0.72032	D	0.01	-26.4902	12.0802	0.53667	0.0:0.0:0.7299:0.2701	.	288;288	B9EGE6;Q9P202	.;WHRN_HUMAN	W	288	ENSP00000354623:R288W	ENSP00000354623:R288W	R	-	1	2	DFNB31	116268469	0.986000	0.35501	1.000000	0.80357	0.974000	0.67602	2.964000	0.49192	2.479000	0.83701	0.491000	0.48974	CGG	-	HMMPfam_PDZ		0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	G	NM_015404		116268469	-1	no_errors	NM_015404	genbank	human	validated	54_36p	missense	SNP	0.97	A
