#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
NBPF15	284565	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		449	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493																																						ENST00000417839.1		NA																	0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(1345-1347)gatfs		neuroblastoma breakpoint family, member 16							1.0	1.0	1.0					1																	148753330		531	579	1110	SO:0001589	frameshift_variant	728936							g.chr1:148753330delT																												ENST00000417839.1:c.1347delT	1.37:g.148753330delT	ENSP00000395369:p.Asp449fs	False	False		Somatic	2					p.D449fs	NM_001102663.1	NP_001096133.1	WXS	Illumina HiSeq	Phase_I					12	1537	+	all_hematologic(923;0.032)		NA					A8MPT6	Frame_Shift_Del	DEL	ENST00000417839.1	37	c.1347delT	CCDS41384.1																																																																																				0.493	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1	0			1:148753330
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:7579315_7579316insC	ENST00000269305.4	-	4	560_561	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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)	AACTGACCGTGCAAGTCACAGA	0.545		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		25	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|liver(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						c.(370-372)tgcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579315_7579316insC	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.372dupG	17.37:g.7579316_7579316dupC	ENSP00000269305:p.Cys124fs	False	False	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)	Somatic	1				TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs	p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503_504	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.371_372insG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579315
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
GPR6	2830	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	rs375711945|rs573522362		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712																																						ENST00000275169.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel		G protein-coupled receptor 6																																				SO:0001651	inframe_deletion	0					integral to plasma membrane		g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	6.37:g.110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENSP00000275169:p.Ala21_Ala40del	True	False		Somatic	1				GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	p.AAAAATAAGGPDTGEWGPPA21del	NM_005284.3	NP_005275.1	WXS	Illumina HiSeq	Phase_I	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	1	79_138	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	21			Poly-Ala.		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	In_Frame_Del	DEL	ENST00000275169.3	37	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	CCDS5079.1																																																																																				0.712	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	0			6:110300376
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
SP8	221833	broad.mit.edu	37	7	20825146	20825172	+	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	rs370737007|rs564509664|rs9771343|rs9769412	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	-	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENST00000361443.4	-	3	447_473	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc	p.70_79AAAAAAAAAA>A	SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	70	Ala-rich.|Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGGgccgcggcagccgcggctgctgccgcggccgccgcagccgccg	0.744																																						ENST00000361443.4		NA																	0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc		Sp8 transcription factor			,	60,402		29,2,200					,	-5.2	0.9			2	155,1461		69,17,722	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	98,19,922	A1A1,A1R,RR		9.5916,12.987,10.3465	,	,		215,1863				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	7.37:g.20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENSP00000354482:p.Ala70_Ala78del	False	False		Somatic	1				SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	p.70_79AAAAAAAAAA>A	NM_198956.2	NP_945194.1	WXS	Illumina HiSeq	Phase_I	Q8IXZ3	SP8_HUMAN			3	447_473	-			70			Ala-rich.|Ser-rich.		Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	CCDS5372.1																																																																																				0.744	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2	0			7:20825146
TPM2	7169	broad.mit.edu	37	9	35685471	35685472	+	In_Frame_Ins	INS	-	-	AATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35685471_35685472insAATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA	ENST00000360958.2	-	4	555_556	c.451_452insTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATT	c.(451-453)gcc>gTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTcc	p.151_151A>VKRTKLHLKKTKKYMHS	TPM2_ENST00000378292.3_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000378300.5_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000329305.2_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	151					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGTGCTTGGCCTCCTTCAGC	0.564																																						ENST00000378292.3		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(451-453)gcc>gTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTcc		tropomyosin 2 (beta)																																				SO:0001652	inframe_insertion	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685471_35685472insAATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.451_452insTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATT	9.37:g.35685471_35685472insAATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA	ENSP00000354219:p.Ala151delinsValLysArgThrLysLeuHisLeuLysLysThrLysLysTyrMetHisSer	False	False		Somatic	0				TPM2_ENST00000360958.2_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000329305.2_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000378300.5_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS	p.151_151A>VKRTKLHLKKTKKYMHS	NM_213674.1	NP_998839.1	WXS	Illumina HiSeq	Phase_I	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	1653_1654	-	all_epithelial(49;0.121)		151					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	In_Frame_Ins	INS	ENST00000360958.2	37	c.451_452insTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATT	CCDS6587.1																																																																																				0.564	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	0	NM_003289		9:35685471
PCSK5	5125	broad.mit.edu	37	9	78790149	78790153	+	Intron	DEL	AATGA	AATGA	-	rs4281168	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:78790149_78790153delAATGA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Frame_Shift_Del_p.MK669fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41																																						ENST00000376767.3		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2002-2010)ggaatgaaafs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790149_78790153delAATGA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+104AATGA>-	9.37:g.78790149_78790153delAATGA		True	False		Somatic	1				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.MK669fs			WXS	Illumina HiSeq	Phase_I	Q92824	PCSK5_HUMAN			14	2516_2520	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Del	DEL	ENST00000545128.1	37	c.2004_2008delAATGA	CCDS55320.1																																																																																				0.410	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:78790149
LCE2B	26239	broad.mit.edu	37	1	152659492	152659492	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152659492C>T	ENST00000368780.3	+	2	227	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667																																						ENST00000368780.3		NA																	0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(172-174)cCc>cTc		late cornified envelope 2B							103.0	119.0	113.0					1																	152659492		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659492C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.173C>T	1.37:g.152659492C>T	ENSP00000357769:p.Pro58Leu	True	False		Somatic	0				LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	p.P58L	NM_014357.4	NP_055172.1	WXS	Illumina HiSeq	Phase_I	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	227	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.173C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.789106	0.02884	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03982	3.74;3.74	2.49	0.482	0.16815	.	.	.	.	.	T	0.01189	0.0039	L	0.29908	0.895	0.26615	N	0.972753	B	0.06786	0.001	B	0.01281	0.0	T	0.46541	-0.9184	9	0.87932	D	0	.	4.5339	0.12019	0.0:0.6472:0.0:0.3528	.	58	O14633	LCE2B_HUMAN	L	58	ENSP00000414043:P58L;ENSP00000357769:P58L	ENSP00000357769:P58L	P	+	2	0	LCE2B	150926116	0.030000	0.19436	0.139000	0.22197	0.053000	0.15095	0.161000	0.16481	-0.140000	0.11394	0.313000	0.20887	CCC		0.667	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	0	NM_014357		1:152659492
RELN	5649	broad.mit.edu	37	7	103629732	103629732	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:103629732G>A	ENST00000428762.1	-	1	231	c.72C>T	c.(70-72)cgC>cgT	p.R24R	RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000424685.2_Silent_p.R24R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	24					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCGCCGCGCGCGCCCTCA	0.711																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2		NA																	0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(70-72)cgC>cgT		reelin							18.0	21.0	20.0					7																	103629732		2202	4298	6500	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629732G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.72C>T	7.37:g.103629732G>A		True	False		Somatic	0				RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000428762.1_Silent_p.R24R	p.R24R			WXS	Illumina HiSeq	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	231	-			24					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.72C>T	CCDS47680.1																																																																																				0.711	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	NM_005045		7:103629732
DIP2A	23181	broad.mit.edu	37	21	47918690	47918690	+	Missense_Mutation	SNP	C	C	T	rs202158653		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:47918690C>T	ENST00000417564.2	+	5	620	c.599C>T	c.(598-600)aCg>aTg	p.T200M	DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M|DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000318711.7_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	200					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGCCACGCCGGGGGCC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13854	0.0		0.0	False		,,,				2504	0.0					ENST00000318711.7		NA																	0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(598-600)aCg>aTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							21.0	30.0	27.0					21																	47918690		2012	4154	6166	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918690C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.599C>T	21.37:g.47918690C>T	ENSP00000392066:p.Thr200Met	False	False		Somatic	0				DIP2A_ENST00000417564.2_Missense_Mutation_p.T200M|DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M	p.T200M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina HiSeq	Phase_I	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	782	+	Breast(49;0.0933)		200					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.599C>T	CCDS46655.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	4.503	0.093291	0.08632	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.23754	1.9;1.89;1.93;1.89;1.92;1.91;1.9	1.13	1.13	0.20643	.	1.142920	0.07083	U	0.837442	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	P;P;D;P;D;P	0.64830	0.819;0.927;0.994;0.819;0.966;0.871	B;B;P;B;B;B	0.62014	0.118;0.322;0.897;0.118;0.176;0.157	T	0.31138	-0.9954	10	0.51188	T	0.08	.	5.6389	0.17552	0.0:1.0:0.0:0.0	.	200;136;200;200;200;200	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	M	200;136;200;200;200;200;200;200	ENSP00000383133:T200M;ENSP00000400528:T136M;ENSP00000323633:T200M;ENSP00000393434:T200M;ENSP00000430249:T200M;ENSP00000415089:T200M;ENSP00000392066:T200M	ENSP00000323633:T200M	T	+	2	0	DIP2A	46743118	0.014000	0.17966	0.061000	0.19648	0.039000	0.13416	1.503000	0.35715	0.922000	0.37019	0.650000	0.86243	ACG		0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	0	NM_015151		21:47918690
CBLN1	869	broad.mit.edu	37	16	49315201	49315201	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:49315201C>A	ENST00000219197.6	-	1	541	c.176G>T	c.(175-177)aGc>aTc	p.S59I	CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CACCTTGGCGCTGCCAGAGCG	0.617																																						ENST00000219197.6		NA																	0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(175-177)aGc>aTc		cerebellin 1 precursor							52.0	53.0	53.0					16																	49315201		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49315201C>A	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.176G>T	16.37:g.49315201C>A	ENSP00000219197:p.Ser59Ile	False	False		Somatic	0				CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	p.S59I	NM_004352.3	NP_004343.1	WXS	Illumina HiSeq	Phase_I	P23435	CBLN1_HUMAN			1	541	-		all_cancers(37;0.0766)|all_lung(18;0.24)	59			C1q.		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.176G>T	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867934	0.51588	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82711	-1.64;-1.64	3.88	3.88	0.44766	Complement C1q protein (2);	0.044975	0.85682	D	0.000000	T	0.78585	0.4306	L	0.39147	1.195	0.53005	D	0.999969	P	0.43973	0.823	B	0.42062	0.374	T	0.81931	-0.0707	10	0.56958	D	0.05	-20.1966	15.6102	0.76710	0.0:1.0:0.0:0.0	.	59	P23435	CBLN1_HUMAN	I	59	ENSP00000219197:S59I;ENSP00000444651:S59I	ENSP00000219197:S59I	S	-	2	0	CBLN1	47872702	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.991000	0.29654	1.994000	0.58287	0.462000	0.41574	AGC		0.617	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	0	NM_004352		16:49315201
PAPOLB	56903	broad.mit.edu	37	7	4899881	4899881	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:4899881C>T	ENST00000404991.1	-	1	1744	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	520					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTGCTGTCGTTCAAATCT	0.458																																						ENST00000404991.1		NA																	0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1558-1560)Gac>Aac		poly(A) polymerase beta (testis specific)							89.0	82.0	84.0					7																	4899881		1989	4207	6196	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899881C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1558G>A	7.37:g.4899881C>T	ENSP00000384700:p.Asp520Asn	False	False		Somatic	0				RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.D520N	NM_020144.4	NP_064529.4	WXS	Illumina HiSeq	Phase_I	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1744	-		Ovarian(82;0.0175)	520					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	4.337	0.061936	0.08339	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.49609	0.1567	L	0.34521	1.04	0.52501	D	0.999953	B	0.10296	0.003	B	0.09377	0.004	T	0.39057	-0.9632	8	0.17369	T	0.5	.	14.9342	0.70941	0.0:1.0:0.0:0.0	.	521	A4D1Z6	.	N	520	.	ENSP00000384700:D520N	D	-	1	0	PAPOLB	4866407	1.000000	0.71417	0.119000	0.21687	0.038000	0.13279	6.480000	0.73604	2.662000	0.90505	0.591000	0.81541	GAC		0.458	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	0	NM_020144		7:4899881
SLC35F4	341880	broad.mit.edu	37	14	58063541	58063541	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:58063541G>A	ENST00000339762.6	-	1	74	c.75C>T	c.(73-75)tgC>tgT	p.C25C	SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	25					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGATATACCGCAAAGCCCAT	0.418																																						ENST00000339762.6		NA																	0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(73-75)tgC>tgT		solute carrier family 35, member F4							82.0	82.0	82.0					14																	58063541		2013	4188	6201	SO:0001819	synonymous_variant	341880							g.chr14:58063541G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.75C>T	14.37:g.58063541G>A		False	False		Somatic	0				SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron	p.C25C			WXS	Illumina HiSeq	Phase_I					1	74	-			NA					A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.75C>T																																																																																					0.418	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		0	XM_292260		14:58063541
OTOF	9381	broad.mit.edu	37	2	26703112	26703112	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:26703112C>T	ENST00000272371.2	-	16	1997	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	624					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R624L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGTTTCTCCGGTCGATCAT	0.577																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2		NA																	1	Substitution - Missense(1)	p.R624L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1870-1872)cGg>cAg		otoferlin							98.0	96.0	97.0					2																	26703112		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26703112C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1871G>A	2.37:g.26703112C>T	ENSP00000272371:p.Arg624Gln	False	False		Somatic	0				OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q	p.R624Q	NM_194248.2	NP_919224.1	WXS	Illumina HiSeq	Phase_I	Q9HC10	OTOF_HUMAN			16	1997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		624					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1871G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377006	0.82682	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.82255	-1.59;-1.59	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91054	0.4880	10	0.34782	T	0.22	-26.7423	17.5382	0.87840	0.0:1.0:0.0:0.0	.	624	Q9HC10	OTOF_HUMAN	Q	624	ENSP00000272371:R624Q;ENSP00000385255:R624Q	ENSP00000272371:R624Q	R	-	2	0	OTOF	26556616	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.698000	0.84413	2.315000	0.78130	0.561000	0.74099	CGG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	0			2:26703112
PPP2R2B	5521	broad.mit.edu	37	5	145979904	145979904	+	Missense_Mutation	SNP	C	C	T	rs369931023		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:145979904C>T	ENST00000394413.3	-	7	1480	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	304					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGACTTTGACGGTCAAGTAG	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19514	0.0		0.0	False		,,,				2504	0.0					ENST00000394413.3		NA																	0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(910-912)Gtc>Atc		protein phosphatase 2, regulatory subunit B, beta		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	162.0	158.0	159.0		877,850,919,910,910,910,910	4.0	0.9	5		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_181678.2,NM_181677.2,NM_181676.2,NM_181675.2,NM_181674.2,NM_004576.2,NM_001127381.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	293/433,284/424,307/447,304/444,304/444,304/444,304/444	145979904	1,13005	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145979904C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.910G>A	5.37:g.145979904C>T	ENSP00000377935:p.Val304Ile	False	False		Somatic	0				PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I	p.V304I			WXS	Illumina HiSeq	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1480	-			304					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.910G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450488	0.63290	0.0	1.16E-4	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.8	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058449	0.64402	D	0.000002	T	0.26412	0.0645	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B	0.28998	0.23;0.063;0.036;0.23;0.119;0.036	B;B;B;B;B;B	0.23852	0.049;0.029;0.029;0.04;0.029;0.029	T	0.03784	-1.1004	10	0.52906	T	0.07	-6.6079	12.7697	0.57412	0.0:0.8663:0.0:0.1337	.	362;310;293;370;307;304	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	I	304;293;370;304;304;304;293;307;310;362	ENSP00000377935:V304I;ENSP00000431320:V293I;ENSP00000377936:V370I;ENSP00000377933:V304I;ENSP00000349283:V304I;ENSP00000398779:V304I;ENSP00000377932:V293I;ENSP00000336591:V307I;ENSP00000421396:V310I;ENSP00000377931:V362I	ENSP00000336591:V307I	V	-	1	0	AC011357.1	145960097	1.000000	0.71417	0.912000	0.35992	0.976000	0.68499	6.088000	0.71371	0.805000	0.34159	0.655000	0.94253	GTC		0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	0	NM_181678		5:145979904
CLEC4M	10332	broad.mit.edu	37	19	7832511	7832511	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:7832511C>T	ENST00000327325.5	+	6	1164	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	349	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCTCTGTCACCCAGGTAGATT	0.577																																						ENST00000327325.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1045-1047)cCc>cTc		C-type lectin domain family 4, member M							86.0	75.0	79.0					19																	7832511		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832511C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1046C>T	19.37:g.7832511C>T	ENSP00000316228:p.Pro349Leu	True	False		Somatic	0				CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Intron	p.P349L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	WXS	Illumina HiSeq	Phase_I	Q9H2X3	CLC4M_HUMAN			6	1164	+			349			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1046C>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	1.249	-0.619258	0.03663	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	2.23	-1.48	0.08745	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.11922	0.0290	N	0.11892	0.195	0.21527	N	0.999659	B;B;P;B;B;B	0.51057	0.032;0.33;0.941;0.074;0.006;0.029	B;B;P;B;B;B	0.51266	0.021;0.133;0.664;0.185;0.002;0.016	T	0.20806	-1.0264	9	0.40728	T	0.16	.	5.2004	0.15260	0.0:0.3984:0.0:0.6016	.	298;282;349;337;326;213	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	L	349;337;327;298;282	ENSP00000316228:P349L;ENSP00000377680:P337L;ENSP00000248228:P327L;ENSP00000335228:P298L;ENSP00000351954:P282L	ENSP00000248228:P327L	P	+	2	0	CLEC4M	7738511	0.005000	0.15991	0.066000	0.19879	0.030000	0.12068	-0.702000	0.05069	-0.281000	0.09141	0.556000	0.70494	CCC		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	NM_014257		19:7832511
PCDHB5	26167	broad.mit.edu	37	5	140516722	140516722	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140516722C>T	ENST00000231134.5	+	1	1923	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCGGCGCCTTGCACC	0.721																																						ENST00000231134.5		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1705-1707)gCg>gTg									21.0	26.0	24.0					5																	140516722		2195	4284	6479	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516722C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1706C>T	5.37:g.140516722C>T	ENSP00000231134:p.Ala569Val	False	False		Somatic	0					p.A569V	NM_015669.2	NP_056484.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1923	+			569			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1706C>T	CCDS4247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.499565|1.499565	0.26861|0.26861	.|.	.|.	ENSG00000113209|ENSG00000113209	ENST00000231134|ENST00000537936	T|.	0.60299|.	0.2|.	4.48|4.48	4.48|4.48	0.54585|0.54585	Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.53286|0.53286	0.1787|0.1787	L|L	0.51422|0.51422	1.61|1.61	0.31007|0.31007	N|N	0.719717|0.719717	B|.	0.27068|.	0.167|.	B|.	0.24269|.	0.052|.	T|T	0.60541|0.60541	-0.7243|-0.7243	9|6	0.62326|0.87932	D|D	0.03|0	.|.	12.394|12.394	0.55374|0.55374	0.215:0.785:0.0:0.0|0.215:0.785:0.0:0.0	.|.	569|.	Q9Y5E4|.	PCDB5_HUMAN|.	V|C	569|353	ENSP00000231134:A569V|.	ENSP00000231134:A569V|ENSP00000446220:R353C	A|R	+|+	2|1	0|0	PCDHB5|PCDHB5	140496906|140496906	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.062000|0.062000	0.15995|0.15995	0.396000|0.396000	0.20867|0.20867	2.214000|2.214000	0.71695|0.71695	0.194000|0.194000	0.17425|0.17425	GCG|CGC		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	0	NM_015669		5:140516722
MOK	5891	broad.mit.edu	37	14	102749891	102749891	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:102749891A>T	ENST00000361847.2	-	2	277	c.46T>A	c.(46-48)Tct>Act	p.S16T	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.S16T|MOK_ENST00000524214.1_Missense_Mutation_p.S16T	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										ATAACTTCAGAAAACGTTCCC	0.348																																						ENST00000361847.2		NA																	0					NA						c.(46-48)Tct>Act		MOK protein kinase							187.0	173.0	178.0					14																	102749891		2203	4299	6502	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102749891A>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.46T>A	14.37:g.102749891A>T	ENSP00000355304:p.Ser16Thr	True	False		Somatic	0				MOK_ENST00000524214.1_Missense_Mutation_p.S16T|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.S16T	p.S16T	NM_014226.1	NP_055041.1	WXS	Illumina HiSeq	Phase_I	Q9UQ07	MOK_HUMAN			2	277	-			16			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.46T>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582045	0.86748	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.49139	0.79;0.79;0.79	5.19	5.19	0.71726	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	0.64402	D	0.000001	T	0.67202	0.2868	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.70612	-0.4824	10	0.62326	D	0.03	-10.4056	14.0486	0.64719	1.0:0.0:0.0:0.0	.	16;16	E7ERR8;Q9UQ07	.;MOK_HUMAN	T	16	ENSP00000429469:S16T;ENSP00000355304:S16T;ENSP00000428942:S16T	ENSP00000355304:S16T	S	-	1	0	RAGE	101819644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	1.967000	0.57214	0.459000	0.35465	TCT		0.348	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3	0			14:102749891
BCAN	63827	broad.mit.edu	37	1	156626767	156626767	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:156626767G>A	ENST00000329117.5	+	10	2424	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	696	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTTCCAGGGCGCCTGCT	0.657																																						ENST00000329117.5		NA																	0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2086-2088)caG>caA		brevican							39.0	41.0	40.0					1																	156626767		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626767G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2088G>A	1.37:g.156626767G>A		True	False		Somatic	0				RP11-284F21.7_ENST00000448869.1_RNA	p.Q696Q	NM_021948.4	NP_068767.3	WXS	Illumina HiSeq	Phase_I	Q96GW7	PGCB_HUMAN			10	2424	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		NA			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.2088G>A	CCDS1149.1																																																																																				0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	0	NM_021948		1:156626767
COL2A1	1280	broad.mit.edu	37	12	48388219	48388219	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557																																						ENST00000380518.3		NA																	1	Substitution - coding silent(1)	p.P199P(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(802-804)ccG>ccA		collagen, type II, alpha 1	Collagenase(DB00048)						128.0	105.0	113.0					12																	48388219		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48388219C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.804G>A	12.37:g.48388219C>T		False	False		Somatic	0				COL2A1_ENST00000337299.6_Silent_p.P199P	p.P268P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	WXS	Illumina HiSeq	Phase_I	P02458	CO2A1_HUMAN			12	968	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	268			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.804G>A	CCDS41778.1																																																																																				0.557	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	0	NM_001844		12:48388219
PUM1	9698	broad.mit.edu	37	1	31447601	31447601	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:31447601A>C	ENST00000257075.5	-	10	1496	c.1403T>G	c.(1402-1404)gTc>gGc	p.V468G	PUM1_ENST00000373747.3_Missense_Mutation_p.V469G|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000440538.2_Missense_Mutation_p.V469G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	468	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCAGGGTAGACTCCCCAGGG	0.512																																						ENST00000373747.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1405-1407)gTc>gGc		pumilio RNA-binding family member 1							49.0	49.0	49.0					1																	31447601		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31447601A>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1403T>G	1.37:g.31447601A>C	ENSP00000257075:p.Val468Gly	False	False		Somatic	0				PUM1_ENST00000257075.5_Missense_Mutation_p.V468G|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000440538.2_Missense_Mutation_p.V469G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000490546.1_5'UTR	p.V469G	NM_001020658.1	NP_001018494.1	WXS	Illumina HiSeq	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	10	1505	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	468			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1406T>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.506990|4.506990	0.85282|0.85282	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	.|T;T;T;T;T;T;T;T	.|0.32753	.|1.73;1.44;1.74;1.73;1.69;1.7;1.6;1.56	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54319|0.54319	0.1851|0.1851	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;P;D;P;D;D;D;D	.|0.89917	.|1.0;0.608;1.0;0.728;1.0;1.0;1.0;1.0	.|D;B;D;B;D;D;D;D	.|0.83275	.|0.996;0.202;0.996;0.366;0.996;0.996;0.996;0.996	T|T	0.57642|0.57642	-0.7776|-0.7776	5|10	.|0.87932	.|D	.|0	-9.606|-9.606	12.5418|12.5418	0.56174|0.56174	0.9342:0.0:0.0658:0.0|0.9342:0.0:0.0658:0.0	.|.	.|409;372;504;469;468;468;469;468	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	R|G	485;179;155|226;468;469;206;468;469;504;372;409;468	.|ENSP00000400141:V226G;ENSP00000257075:V468G;ENSP00000362852:V469G;ENSP00000391723:V468G;ENSP00000401777:V469G;ENSP00000362846:V504G;ENSP00000399440:V372G;ENSP00000362847:V409G	.|ENSP00000257075:V468G	S|V	-|-	3|2	2|0	PUM1|PUM1	31220188|31220188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.442000|7.442000	0.80503|0.80503	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AGT|GTC		0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1	0			1:31447601
CSNK1A1L	122011	broad.mit.edu	37	13	37678736	37678736	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:37678736G>A	ENST00000379800.3	-	1	1067	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs56252856). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCTTGCCACGGCAGGCTGGTT	0.418																																						ENST00000379800.3		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(658-660)Ccg>Tcg		casein kinase 1, alpha 1-like							103.0	102.0	103.0					13																	37678736		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678736G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.658C>T	13.37:g.37678736G>A	ENSP00000369126:p.Pro220Ser	False	False		Somatic	0					p.P220S	NM_145203.5	NP_660204.2	WXS	Illumina HiSeq	Phase_I	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1067	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	220		P -> L (in dbSNP:rs56252856).	Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.658C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854424	0.32791	.	.	ENSG00000180138	ENST00000379800	T	0.34859	1.34	1.08	1.08	0.20341	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.99042	4.41	0.39701	D	0.971184	P	0.36222	0.544	B	0.38985	0.287	T	0.66089	-0.6010	10	0.87932	D	0	.	7.9927	0.30250	0.0:0.0:1.0:0.0	.	220	Q8N752	KC1AL_HUMAN	S	220	ENSP00000369126:P220S	ENSP00000369126:P220S	P	-	1	0	CSNK1A1L	36576736	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	2.916000	0.48813	0.871000	0.35750	0.561000	0.74099	CCG		0.418	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	0	NM_145203		13:37678736
SPHKAP	80309	broad.mit.edu	37	2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T	rs200812632		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V452I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGAACAACGACGATTTTG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20681	0.0		0.001	False		,,,				2504	0.0					ENST00000392056.3		NA																	2	Substitution - Missense(2)	p.V452I(2)	endometrium(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1354-1356)Gtt>Att		SPHK1 interactor, AKAP domain containing							99.0	97.0	98.0					2																	228884216		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884216C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1354G>A	2.37:g.228884216C>T	ENSP00000375909:p.Val452Ile	False	False		Somatic	0				SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	p.V452I	NM_001142644.1	NP_001136116.1	WXS	Illumina HiSeq	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1400	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	452					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1354G>A	CCDS46537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.730	0.135652	0.09032	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05717	3.41;3.4	6.03	2.42	0.29668	.	0.043547	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00332	-1.63	0.23440	N	0.997673	B;B	0.17465	0.002;0.022	B;B	0.08055	0.0;0.003	T	0.47674	-0.9099	10	0.02654	T	1	.	8.9785	0.35950	0.0:0.2142:0.0:0.7858	.	452;452	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	452	ENSP00000375909:V452I;ENSP00000339886:V452I	ENSP00000339886:V452I	V	-	1	0	SPHKAP	228592460	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.744000	0.55112	0.179000	0.19938	-0.302000	0.09304	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	0	NM_030623		2:228884216
MXRA5	25878	broad.mit.edu	37	X	3239037	3239037	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:3239037G>A	ENST00000217939.6	-	5	4843	c.4689C>T	c.(4687-4689)tcC>tcT	p.S1563S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1563						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCTGGTCGGAAGAGGGTG	0.453																																						ENST00000217939.6		NA																	0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(4687-4689)tcC>tcT		matrix-remodelling associated 5							228.0	201.0	210.0					X																	3239037		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3239037G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4689C>T	X.37:g.3239037G>A		False	False		Somatic	0					p.S1563S	NM_015419.3	NP_056234.2	WXS	Illumina HiSeq	Phase_I	Q9NR99	MXRA5_HUMAN			5	4843	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1563					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.4689C>T	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	0	NM_015419		X:3239037
PCDHA2	56146	broad.mit.edu	37	5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176666C>T	ENST00000526136.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	706					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A706V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTATCCAGC	0.692																																						ENST00000526136.1		NA																	2	Substitution - Missense(2)	p.A706V(2)	breast(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2116-2118)gCg>gTg									86.0	84.0	85.0					5																	140176666		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176666C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2117C>T	5.37:g.140176666C>T	ENSP00000431748:p.Ala706Val	False	False		Somatic	0				PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A706V	NM_018905.2	NP_061728.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2117	+			NA					O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2117C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.150943	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.80033	-1.33;-1.33;-1.33	4.0	3.1	0.35709	.	0.207607	0.22950	U	0.053675	D	0.82426	0.5034	M	0.93462	3.42	0.23879	N	0.99658	P;B;P	0.35456	0.502;0.027;0.502	B;B;B	0.33750	0.169;0.008;0.169	T	0.75769	-0.3201	10	0.49607	T	0.09	.	7.6207	0.28183	0.0:0.7431:0.1674:0.0895	.	706;706;706	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	706	ENSP00000430584:A706V;ENSP00000367372:A706V;ENSP00000431748:A706V	ENSP00000367372:A706V	A	+	2	0	PCDHA2	140156850	0.000000	0.05858	0.993000	0.49108	0.912000	0.54170	1.011000	0.29911	0.773000	0.33404	0.585000	0.79938	GCG		0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	0	NM_018905		5:140176666
ZNF526	116115	broad.mit.edu	37	19	42730124	42730124	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:42730124G>A	ENST00000301215.3	+	3	1794	c.1569G>A	c.(1567-1569)acG>acA	p.T523T		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCCATACGGGTGCACGTC	0.617																																						ENST00000301215.3		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1567-1569)acG>acA		zinc finger protein 526							70.0	65.0	67.0					19																	42730124		2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730124G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1569G>A	19.37:g.42730124G>A		True	False		Somatic	0					p.T523T	NM_133444.1	NP_597701.1	WXS	Illumina HiSeq	Phase_I	Q8TF50	ZN526_HUMAN			3	1794	+		Prostate(69;0.0704)	523					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.1569G>A	CCDS12598.1																																																																																				0.617	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	0	XM_057401		19:42730124
KIF16B	55614	broad.mit.edu	37	20	16360516	16360516	+	Nonsense_Mutation	SNP	G	G	A	rs201140090		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:16360516G>A	ENST00000354981.2	-	19	2288	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	711	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTTGAGTCGTTGGAGTTCT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21064	0.001		0.0	False		,,,				2504	0.0					ENST00000354981.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2131-2133)Cga>Tga		kinesin family member 16B							155.0	140.0	146.0					20																	16360516		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360516G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2131C>T	20.37:g.16360516G>A	ENSP00000347076:p.Arg711*	False	False		Somatic	0				KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame	p.R711*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina HiSeq	Phase_I	Q96L93	KI16B_HUMAN			19	2288	-			711			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2131C>T	CCDS13122.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.79	3.698839	0.68501	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	.	.	.	5.39	-2.5	0.06384	.	0.267875	0.35585	N	0.003112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9842	0.09507	0.3095:0.0:0.3307:0.3598	.	.	.	.	X	711	.	ENSP00000347076:R711X	R	-	1	2	KIF16B	16308516	0.637000	0.27216	0.033000	0.17914	0.004000	0.04260	0.491000	0.22419	-0.381000	0.07882	0.655000	0.94253	CGA		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	0	NM_017683		20:16360516
GRK5	2869	broad.mit.edu	37	10	121203161	121203161	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:121203161G>A	ENST00000392870.2	+	12	1492	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTCCGCGGCCGCAAGGAGAAG	0.632																																						ENST00000392870.2		NA																	0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1162-1164)cGc>cAc		G protein-coupled receptor kinase 5							42.0	45.0	44.0					10																	121203161		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121203161G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1163G>A	10.37:g.121203161G>A	ENSP00000376609:p.Arg388His	False	False		Somatic	0				GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	p.R388H	NM_005308.2	NP_005299.1	WXS	Illumina HiSeq	Phase_I	P34947	GRK5_HUMAN		all cancers(201;0.0227)	12	1492	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	388			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1163G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.009541	0.75046	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.65364	-0.15;-0.15	5.11	5.11	0.69529	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	0.64402	D	0.000013	T	0.65893	0.2735	N	0.16903	0.455	0.80722	D	1	B;D	0.76494	0.082;0.999	B;D	0.76071	0.019;0.987	T	0.63571	-0.6607	10	0.22109	T	0.4	-1.8258	18.5308	0.90992	0.0:0.0:1.0:0.0	.	388;388	B2R7K0;P34947	.;GRK5_HUMAN	H	388;283	ENSP00000376609:R388H;ENSP00000358104:R283H	ENSP00000358104:R283H	R	+	2	0	GRK5	121193151	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.830000	0.99415	2.390000	0.81377	0.561000	0.74099	CGC		0.632	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	0	NM_005308		10:121203161
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532																																						ENST00000367360.2		NA																	0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(151-153)gCg>gTg		retinoic acid early transcript 1G							99.0	100.0	100.0					6																	150240886		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240886G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val	False	False		Somatic	0				RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	p.A51V	NM_001001788.2	NP_001001788.2	WXS	Illumina HiSeq	Phase_I	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	219	-		Ovarian(120;0.0907)	51			MHC class I alpha-1 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.152C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG		0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2	0			6:150240886
LPHN2	23266	broad.mit.edu	37	1	82372825	82372825	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:82372825G>A	ENST00000370728.1	+	6	842	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTATGGTCGGACGGATGAC	0.453																																						ENST00000370728.1		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(196-198)cGg>cAg		latrophilin 2							168.0	154.0	159.0					1																	82372825		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372825G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.197G>A	1.37:g.82372825G>A	ENSP00000359763:p.Arg66Gln	True	False		Somatic	0				LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q	p.R66Q			WXS	Illumina HiSeq	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	842	+			66			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.681143	0.96774	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.52306	0.1726	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	T	0.65709	-0.6102	10	0.87932	D	0	.	18.8804	0.92353	0.0:0.0:1.0:0.0	.	66;66;66;66	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	Q	66	ENSP00000359756:R66Q;ENSP00000359763:R66Q;ENSP00000359765:R66Q;ENSP00000359762:R66Q;ENSP00000359760:R66Q;ENSP00000359758:R66Q;ENSP00000353006:R66Q;ENSP00000359750:R66Q;ENSP00000359748:R66Q;ENSP00000322270:R66Q;ENSP00000359752:R66Q;ENSP00000378344:R66Q;ENSP00000271029:R66Q;ENSP00000337306:R66Q	ENSP00000271029:R66Q	R	+	2	0	LPHN2	82145413	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.695000	0.98691	2.527000	0.85204	0.557000	0.71058	CGG		0.453	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	NM_012302		1:82372825
LPA	4018	broad.mit.edu	37	6	161020531	161020531	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:161020531C>T	ENST00000316300.5	-	20	3332		c.e20+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483																																						ENST00000447678.1		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e21+1		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						287.0	311.0	303.0					6																	161020531		2200	4299	6499	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020531C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3287+1G>A	6.37:g.161020531C>T		False	False		Somatic	0				LPA_ENST00000316300.5_Splice_Site		NM_005577.2	NP_005568.2	WXS	Illumina HiSeq	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3408	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	NA					Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37		CCDS43523.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446431	0.25987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160940521	1.000000	0.71417	0.930000	0.37139	0.007000	0.05969	3.793000	0.55484	1.361000	0.45981	0.436000	0.28706	.		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	NM_005577	Intron	6:161020531
GALNT1	2589	broad.mit.edu	37	18	33243666	33243666	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr18:33243666C>G	ENST00000269195.5	+	2	317	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E|GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	72					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAGAGGATCAAGAAAAGAT	0.373																																						ENST00000269195.5		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(214-216)Caa>Gaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							110.0	105.0	107.0					18																	33243666		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243666C>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.214C>G	18.37:g.33243666C>G	ENSP00000269195:p.Gln72Glu	False	False		Somatic	0				GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E|GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E	p.Q72E	NM_020474.3	NP_065207.2	WXS	Illumina HiSeq	Phase_I	Q10472	GALT1_HUMAN			2	317	+			72					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.214C>G	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589022	0.46110	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.54279	0.62;0.58	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.35854	1.095	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.19147	T	0.46	.	16.026	0.80545	0.0:1.0:0.0:0.0	.	72	Q10472	GALT1_HUMAN	E	72;72;12	ENSP00000269195:Q72E;ENSP00000440910:Q12E	ENSP00000269195:Q72E	Q	+	1	0	GALNT1	31497664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.399000	0.81585	0.655000	0.94253	CAA		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	0	NM_020474		18:33243666
ATRX	546	broad.mit.edu	37	X	76938810	76938810	+	Silent	SNP	T	T	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:76938810T>C	ENST00000373344.5	-	9	2152	c.1938A>G	c.(1936-1938)ttA>ttG	p.L646L	ATRX_ENST00000395603.3_Silent_p.L608L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	646					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTCTAAAAGTAATGAAACTT	0.403			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5		NA		Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1936-1938)ttA>ttG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						137.0	150.0	146.0					X																	76938810		2203	4294	6497	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938810T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1938A>G	X.37:g.76938810T>C		False	False		Somatic	0				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L608L	p.L646L	NM_000489.3	NP_000480.3	WXS	Illumina HiSeq	Phase_I	P46100	ATRX_HUMAN			9	2152	-			646					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1938A>G	CCDS14434.1																																																																																				0.403	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	0	NM_000489		X:76938810
RYR1	6261	broad.mit.edu	37	19	38989876	38989876	+	Silent	SNP	C	C	T	rs199993301		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:38989876C>T	ENST00000359596.3	+	43	7020	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000355481.4_Silent_p.F2340F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2340	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTGCTGTCTTCGTCAACGGTG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19955	0.0		0.0	False		,,,				2504	0.0					ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7018-7020)ttC>ttT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						90.0	69.0	76.0					19																	38989876		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38989876C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7020C>T	19.37:g.38989876C>T		False	False		Somatic	0				RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F	p.F2340F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7151	+	all_cancers(60;7.91e-06)		2340			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7020C>T	CCDS33011.1																																																																																				0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:38989876
CSMD2	114784	broad.mit.edu	37	1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:34164425G>A	ENST00000373380.1	-	3	692	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1245W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACTACCCCGCAGGCTGTAT	0.602																																						ENST00000373381.4		NA																	1	Substitution - Missense(1)	p.R1245W(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3853-3855)Cgg>Tgg		CUB and Sushi multiple domains 2							81.0	78.0	79.0					1																	34164425		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164425G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.472C>T	1.37:g.34164425G>A	ENSP00000362478:p.Arg158Trp	True	False		Somatic	0				CSMD2_ENST00000373380.1_Missense_Mutation_p.R158W|CSMD2_ENST00000373388.2_5'UTR	p.R1285W	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			24	4029	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1245			CUB 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3853C>T		.	.	.	.	.	.	.	.	.	.	G	19.54	3.847745	0.71603	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65732	-0.17;-0.17	5.76	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.064952	0.64402	D	0.000009	T	0.75398	0.3844	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;P;P	0.69307	0.963;0.892;0.892	T	0.78157	-0.2313	10	0.66056	D	0.02	.	14.5371	0.67969	0.0:0.0:0.735:0.265	.	158;1245;1285	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1285;158	ENSP00000362479:R1285W;ENSP00000362478:R158W	ENSP00000241312:R1245W	R	-	1	2	CSMD2	33937012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.128000	0.42045	1.522000	0.49001	0.650000	0.86243	CGG		0.602	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	0	NM_052896		1:34164425
FAM86DP	692099	broad.mit.edu	37	3	75478338	75478338	+	RNA	SNP	T	T	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:75478338T>C	ENST00000459803.1	-	0	327					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCAGGGTCTCTGCCAGTGCCT	0.557																																						ENST00000459803.1		NA																	0					NA																																														0							g.chr3:75478338T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75478338T>C		False	False		Somatic	0						NR_024241.1		WXS	Illumina HiSeq	Phase_I					0	327	-			NA						RNA	SNP	ENST00000459803.1	37																																																																																						0.557	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	0	NR_024241		3:75478338
SKP2	6502	broad.mit.edu	37	5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:36168477G>A	ENST00000274255.6	+	5	795	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507																																						ENST00000274255.6		NA																	2	Substitution - Missense(2)	p.G200D(2)	lung(2)	breast(1)|central_nervous_system(2)|ovary(1)	4						c.(598-600)gGc>gAc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							212.0	213.0	212.0					5																	36168477		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168477G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.599G>A	5.37:g.36168477G>A	ENSP00000274255:p.Gly200Asp	False	False		Somatic	0				SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron	p.G200D	NM_005983.3	NP_005974.2	WXS	Illumina HiSeq	Phase_I	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	795	+	all_lung(31;5.63e-05)		200					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.599G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514246	0.04200	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.41758	0.99;0.99	5.43	-0.0819	0.13701	.	0.441048	0.27185	N	0.020531	T	0.18299	0.0439	N	0.16098	0.37	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.20505	-1.0273	10	0.12103	T	0.63	-2.8353	5.5651	0.17167	0.3435:0.1319:0.5247:0.0	.	200;200	Q13309-2;Q13309	.;SKP2_HUMAN	D	200;200;166	ENSP00000274254:G200D;ENSP00000274255:G200D	ENSP00000274254:G200D	G	+	2	0	SKP2	36204234	0.662000	0.27439	0.015000	0.15790	0.449000	0.32228	0.249000	0.18216	-0.065000	0.13021	-0.251000	0.11542	GGC		0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	0	NM_005983		5:36168477
STARD7	56910	broad.mit.edu	37	2	96873900	96873900	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:96873900C>T	ENST00000337288.5	-	1	656	c.273G>A	c.(271-273)caG>caA	p.Q91Q	AC012307.3_ENST00000446816.1_RNA	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	91						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ACTCCTCCTCCTGGATCCTCT	0.697																																						ENST00000337288.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(271-273)caG>caA		StAR-related lipid transfer (START) domain containing 7							29.0	28.0	28.0					2																	96873900		2203	4300	6503	SO:0001819	synonymous_variant	56910					mitochondrion		g.chr2:96873900C>T	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.273G>A	2.37:g.96873900C>T		True	False		Somatic	0					p.Q91Q	NM_020151.3	NP_064536.2	WXS	Illumina HiSeq	Phase_I	Q9NQZ5	STAR7_HUMAN			1	656	-			91					D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	c.273G>A	CCDS2017.2																																																																																				0.697	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2	0			2:96873900
FREM2	341640	broad.mit.edu	37	13	39262608	39262608	+	Missense_Mutation	SNP	G	G	A	rs544070855		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:39262608G>A	ENST00000280481.7	+	1	1343	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	376					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCGATGATCGCAGCCTGCCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17293	0.0		0.0	False		,,,				2504	0.0					ENST00000280481.7		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1126-1128)cGc>cAc		FRAS1 related extracellular matrix protein 2							98.0	97.0	97.0					13																	39262608		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262608G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1127G>A	13.37:g.39262608G>A	ENSP00000280481:p.Arg376His	False	False		Somatic	0					p.R376H	NM_207361.4	NP_997244.3	WXS	Illumina HiSeq	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1343	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	376					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1127G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394821	0.62066	.	.	ENSG00000150893	ENST00000280481	T	0.17370	2.28	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.21583	0.68	0.58432	D	0.999997	D	0.89917	1.0	P	0.60789	0.879	T	0.01004	-1.1484	10	0.28530	T	0.3	.	16.5915	0.84766	0.0:0.13:0.87:0.0	.	376	Q5SZK8	FREM2_HUMAN	H	376	ENSP00000280481:R376H	ENSP00000280481:R376H	R	+	2	0	FREM2	38160608	0.149000	0.22717	0.998000	0.56505	0.996000	0.88848	1.935000	0.40173	2.826000	0.97356	0.561000	0.74099	CGC		0.572	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	NM_207361		13:39262608
RPS6KA6	27330	broad.mit.edu	37	X	83361395	83361395	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:83361395G>T	ENST00000262752.2	-	15	1350	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCCATGTTGGTAGTTGCATG	0.363																																						ENST00000262752.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1342-1344)aCc>aAc		ribosomal protein S6 kinase, 90kDa, polypeptide 6							129.0	95.0	106.0					X																	83361395		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361395G>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1343C>A	X.37:g.83361395G>T	ENSP00000262752:p.Thr448Asn	False	False		Somatic	0				RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N|RPS6KA6_ENST00000495332.1_5'UTR	p.T448N	NM_014496.4	NP_055311.1	WXS	Illumina HiSeq	Phase_I	Q9UK32	KS6A6_HUMAN			15	1350	-			448			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1343C>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032610	0.75504	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.45276	0.9;0.9	5.45	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220899	0.45867	N	0.000332	T	0.49372	0.1553	L	0.51422	1.61	0.53005	D	0.99996	B;B	0.29115	0.233;0.233	B;B	0.42771	0.397;0.345	T	0.51865	-0.8651	10	0.72032	D	0.01	.	14.4183	0.67165	0.0:0.0:0.8326:0.1674	.	448;448	B7ZL90;Q9UK32	.;KS6A6_HUMAN	N	448	ENSP00000262752:T448N;ENSP00000440830:T448N	ENSP00000262752:T448N	T	-	2	0	RPS6KA6	83248051	1.000000	0.71417	0.991000	0.47740	0.875000	0.50365	7.489000	0.81451	0.975000	0.38392	0.422000	0.28245	ACC		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	0	NM_014496		X:83361395
HERC2	8924	broad.mit.edu	37	15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTGACCGCACGGAGAC	0.557																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11002-11004)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							141.0	92.0	109.0					15																	28391388		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28391388C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11003G>A	15.37:g.28391388C>T	ENSP00000261609:p.Arg3668Gln	False	False		Somatic	0					p.R3668Q	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	71	11111	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3668						Missense_Mutation	SNP	ENST00000261609.7	37	c.11003G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958751	0.97145	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.68172	-0.5479	10	0.66056	D	0.02	.	19.4151	0.94690	0.0:1.0:0.0:0.0	.	3668	O95714	HERC2_HUMAN	Q	3668	ENSP00000261609:R3668Q	ENSP00000261609:R3668Q	R	-	2	0	HERC2	26064983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.601000	0.87937	0.644000	0.83932	CGG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28391388
TTN	7273	broad.mit.edu	37	2	179600638	179600638	+	Silent	SNP	G	G	A	rs184307461	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:179600638G>A	ENST00000591111.1	-	48	13808	c.13584C>T	c.(13582-13584)gaC>gaT	p.D4528D	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.D4845D|TTN_ENST00000342992.6_Silent_p.D3601D			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				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)			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)			TGTTTTCTGCGTCGGAAATCC	0.443													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20196	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1		NA																	0				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						c.(14533-14535)gaC>gaT		titin		G	,,,	0,3874		0,0,1937	135.0	131.0	132.0		,10803,,	-0.5	0.5	2		132	2,8284		0,2,4141	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6078	AA,AG,GG		0.0241,0.0,0.0164	,,,	,3601/33424,,	179600638	2,12158	1937	4143	6080	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600638G>A	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.13584C>T	2.37:g.179600638G>A		False	False		Somatic	0				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D4528D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D3601D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA	p.D4845D	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	14759	-			4528			Ig-like 28.		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	Silent	SNP	ENST00000591111.1	37	c.14535C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179600638
EFTUD2	9343	broad.mit.edu	37	17	42937897	42937897	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:42937897A>G	ENST00000426333.2	-	17	1919	c.1622T>C	c.(1621-1623)gTg>gCg	p.V541A	EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	541					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AACACGGTTCACCTCGATGTG	0.433																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2		NA																	0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1621-1623)gTg>gCg		elongation factor Tu GTP binding domain containing 2							133.0	110.0	118.0					17																	42937897		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42937897A>G	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1622T>C	17.37:g.42937897A>G	ENSP00000392094:p.Val541Ala	False	False		Somatic	0				EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A	p.V541A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	WXS	Illumina HiSeq	Phase_I	Q15029	U5S1_HUMAN			17	1919	-		Prostate(33;0.109)	541					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1622T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813251	0.70912	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.68903	-0.36;-0.36	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.91354	3.2	0.80722	D	1	P;P	0.38535	0.635;0.635	P;P	0.44811	0.461;0.461	T	0.82112	-0.0618	10	0.51188	T	0.08	-18.7055	15.129	0.72507	1.0:0.0:0.0:0.0	.	531;541	B4DMC0;Q15029	.;U5S1_HUMAN	A	541;531;506	ENSP00000392094:V541A;ENSP00000385873:V506A	ENSP00000262414:V531A	V	-	2	0	EFTUD2	40293423	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.055000	0.93873	2.240000	0.73641	0.528000	0.53228	GTG		0.433	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	0	NM_004247		17:42937897
FER1L6	654463	broad.mit.edu	37	8	125058136	125058136	+	Silent	SNP	C	C	T	rs532200482		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:125058136C>T	ENST00000522917.1	+	21	2924	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.D906D|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	906	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGACAGCGACGCTGTGGTGA	0.507																																						ENST00000522917.1		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2716-2718)gaC>gaT		fer-1-like 6 (C. elegans)							120.0	125.0	124.0					8																	125058136		1970	4162	6132	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125058136C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2718C>T	8.37:g.125058136C>T		False	False		Somatic	0				FER1L6_ENST00000399018.1_Silent_p.D906D	p.D906D	NM_001039112.2	NP_001034201.2	WXS	Illumina HiSeq	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		21	2924	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		906			C2 3.			Silent	SNP	ENST00000522917.1	37	c.2718C>T	CCDS43767.1																																																																																				0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	NM_001039112		8:125058136
SLC27A5	10998	broad.mit.edu	37	19	59010223	59010223	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:59010223C>T	ENST00000263093.2	-	9	1934	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R	SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	609					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AACTTCTCCCCGTCGAAAGTC	0.627																																						ENST00000263093.2		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1825-1827)Ggg>Agg		solute carrier family 27 (fatty acid transporter), member 5							69.0	65.0	66.0					19																	59010223		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010223C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1825G>A	19.37:g.59010223C>T	ENSP00000263093:p.Gly609Arg	True	False		Somatic	0				SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R	p.G609R	NM_012254.2	NP_036386.1	WXS	Illumina HiSeq	Phase_I	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	9	1934	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	609					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1825G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317416	0.81469	.	.	ENSG00000083807	ENST00000263093	T	0.56444	0.46	4.99	4.99	0.66335	.	0.191936	0.44688	D	0.000433	T	0.72061	0.3414	M	0.79926	2.475	0.39795	D	0.972482	D	0.76494	0.999	D	0.70716	0.97	T	0.76063	-0.3096	10	0.52906	T	0.07	-29.1403	14.1388	0.65306	0.0:1.0:0.0:0.0	.	609	Q9Y2P5	S27A5_HUMAN	R	609	ENSP00000263093:G609R	ENSP00000263093:G609R	G	-	1	0	SLC27A5	63702035	0.007000	0.16637	0.565000	0.28409	0.824000	0.46624	0.650000	0.24858	2.470000	0.83445	0.650000	0.86243	GGG		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	0	NM_012254		19:59010223
TENM2	57451	broad.mit.edu	37	5	167420045	167420045	+	Silent	SNP	G	G	A	rs146310303	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:167420045G>A	ENST00000518659.1	+	5	1083	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	TENM2_ENST00000403607.2_Silent_p.P181P|TENM2_ENST00000519204.1_Silent_p.P227P|TENM2_ENST00000545108.1_Silent_p.P348P|TENM2_ENST00000520394.1_Silent_p.P157P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	348	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P227P(1)|p.P348P(1)|p.P181P(1)									ACACGCCCCCGCCCCGCCTGC	0.582													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16842	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1		NA																	3	Substitution - coding silent(3)	p.P227P(1)|p.P348P(1)|p.P181P(1)	endometrium(3)		NA						c.(679-681)ccG>ccA		teneurin transmembrane protein 2		G		5,3771		0,5,1883	60.0	63.0	62.0		1044	-11.1	0.7	5	dbSNP_134	62	1,8193		0,1,4096	no	coding-synonymous	ODZ2	NM_001122679.1		0,6,5979	AA,AG,GG		0.0122,0.1324,0.0501		348/2766	167420045	6,11964	1888	4097	5985	SO:0001819	synonymous_variant	57451							g.chr5:167420045G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1044G>A	5.37:g.167420045G>A		True	False		Somatic	0				TENM2_ENST00000518659.1_Silent_p.P348P|TENM2_ENST00000520394.1_Silent_p.P157P|TENM2_ENST00000545108.1_Silent_p.P348P|TENM2_ENST00000403607.2_Silent_p.P181P	p.P227P			WXS	Illumina HiSeq	Phase_I					4	799	+			NA					Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.681G>A																																																																																					0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	0	NM_001122679		5:167420045
SPINT1	6692	broad.mit.edu	37	15	41146275	41146275	+	Missense_Mutation	SNP	C	C	T	rs376143378		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:41146275C>T	ENST00000344051.4	+	6	1213	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATGGAAAGGCGCCATCCAGG	0.587																																						ENST00000344051.4		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	109.0	109.0		931,931,979	2.6	0.8	15		109	0,8600		0,0,4300	no	missense,missense,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	311/514,311/514,327/530	41146275	1,13005	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146275C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.979C>T	15.37:g.41146275C>T	ENSP00000342098:p.Arg327Cys	False	False		Somatic	0				SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C	p.R327C			WXS	Illumina HiSeq	Phase_I	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	6	1213	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	327					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.979C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547696	0.27652	2.27E-4	0.0	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95756	-3.72;-3.8	4.59	2.63	0.31362	.	1.291370	0.04602	N	0.398660	D	0.89375	0.6697	N	0.08118	0	0.25231	N	0.989828	P;P	0.52842	0.956;0.536	B;B	0.39152	0.292;0.157	T	0.82216	-0.0567	10	0.51188	T	0.08	-8.3304	11.1077	0.48212	0.3352:0.6648:0.0:0.0	.	311;327	O43278-2;O43278	.;SPIT1_HUMAN	C	327;294;311	ENSP00000342098:R327C;ENSP00000409935:R311C	ENSP00000342098:R327C	R	+	1	0	SPINT1	38933567	0.998000	0.40836	0.763000	0.31416	0.853000	0.48598	1.921000	0.40035	0.512000	0.28257	0.448000	0.29417	CGC		0.587	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	0	NM_003710		15:41146275
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	True	False		Somatic	0				RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34241168
RNF103	7844	broad.mit.edu	37	2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388																																						ENST00000237455.4		NA																	0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(397-399)gGc>gAc		ring finger protein 103							105.0	102.0	103.0					2																	86839366		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839366C>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.398G>A	2.37:g.86839366C>T	ENSP00000237455:p.Gly133Asp	True	False		Somatic	0				RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA	p.G133D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	WXS	Illumina HiSeq	Phase_I	O00237	RN103_HUMAN			3	1366	-			133					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.398G>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003290	0.54254	.	.	ENSG00000239305	ENST00000237455	T	0.44881	0.91	5.58	5.58	0.84498	.	0.048876	0.85682	D	0.000000	T	0.40979	0.1139	L	0.47716	1.5	0.52099	D	0.999943	P	0.37525	0.598	B	0.34722	0.188	T	0.36890	-0.9729	10	0.56958	D	0.05	-12.7616	19.5655	0.95391	0.0:1.0:0.0:0.0	.	133	O00237	RN103_HUMAN	D	133	ENSP00000237455:G133D	ENSP00000237455:G133D	G	-	2	0	RNF103	86692877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.639000	0.89480	0.591000	0.81541	GGC		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	0	NM_005667		2:86839366
INTS1	26173	broad.mit.edu	37	7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:1542704G>A	ENST00000404767.3	-	3	267	c.182C>T	c.(181-183)gCg>gTg	p.A61V	INTS1_ENST00000389470.4_Missense_Mutation_p.A189V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	61	Poly-Ala.				inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657																																						ENST00000389470.4		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(565-567)gCg>gTg		integrator complex subunit 1							55.0	68.0	64.0					7																	1542704		2021	4166	6187	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542704G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.182C>T	7.37:g.1542704G>A	ENSP00000385722:p.Ala61Val	False	False		Somatic	0				INTS1_ENST00000404767.3_Missense_Mutation_p.A61V	p.A189V			WXS	Illumina HiSeq	Phase_I	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	565	-		Ovarian(82;0.0253)	61					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.566C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184869	0.57909	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.83	4.61	3.72	0.42706	.	0.137694	0.49916	D	0.000129	T	0.43897	0.1268	L	0.61218	1.895	0.45354	D	0.998342	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.116	T	0.52660	-0.8546	10	0.72032	D	0.01	.	13.7251	0.62754	0.0:0.156:0.844:0.0	.	189;61	A4D212;Q8N201	.;INT1_HUMAN	V	61;189	ENSP00000385722:A61V;ENSP00000374121:A189V	ENSP00000374121:A189V	A	-	2	0	INTS1	1509230	1.000000	0.71417	0.767000	0.31495	0.393000	0.30537	5.086000	0.64474	1.134000	0.42165	0.563000	0.77884	GCG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1	0			7:1542704
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4508					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532																																						ENST00000582970.1		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13522-13524)Ggc>Agc		ring finger protein 213							315.0	266.0	282.0					17																	78351573		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78351573G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13522G>A	17.37:g.78351573G>A	ENSP00000464087:p.Gly4508Ser	False	False		Somatic	0				RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.G4508S	NM_001256071.1	NP_001243000.1	WXS	Illumina HiSeq	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		54	13665	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13522G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113576	0.94339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55413	0.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.75777	2.31	0.44587	D	0.997552	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.76154	-0.3063	10	0.72032	D	0.01	.	17.3883	0.87423	0.0:0.0:1.0:0.0	.	4557;2581	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4508;4557;2581	ENSP00000338218:G2581S	ENSP00000338218:G2581S	G	+	1	0	RNF213	75966168	0.997000	0.39634	0.349000	0.25694	0.985000	0.73830	5.094000	0.64523	2.529000	0.85273	0.655000	0.94253	GGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	NM_020914		17:78351573
KPNA4	3840	broad.mit.edu	37	3	160233331	160233331	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:160233331C>G	ENST00000334256.4	-	12	1246	c.941G>C	c.(940-942)gGa>gCa	p.G314A	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	314	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCATCAGTTCCAGTAACAAT	0.383																																						ENST00000334256.4		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(940-942)gGa>gCa		karyopherin alpha 4 (importin alpha 3)							114.0	97.0	103.0					3																	160233331		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160233331C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.941G>C	3.37:g.160233331C>G	ENSP00000334373:p.Gly314Ala	False	False		Somatic	0					p.G314A	NM_002268.4	NP_002259.1	WXS	Illumina HiSeq	Phase_I	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		12	1246	-			314			NLS binding site (minor) (By similarity).		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.941G>C	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102219	0.94245	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.32515	1.45;1.45	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76586	-0.2905	10	0.87932	D	0	-4.4791	19.8667	0.96806	0.0:1.0:0.0:0.0	.	314	O00629	IMA4_HUMAN	A	314;19	ENSP00000334373:G314A;ENSP00000417172:G19A	ENSP00000334373:G314A	G	-	2	0	KPNA4	161716025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.668000	0.83897	2.773000	0.95371	0.655000	0.94253	GGA		0.383	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	0	NM_002268		3:160233331
PIGO	84720	broad.mit.edu	37	9	35092197	35092197	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092197C>G	ENST00000378617.3	-	7	2081	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	563					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAAAACTATCAGAGAAGAAC	0.597																																						ENST00000378617.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1687-1689)Gat>Cat		phosphatidylinositol glycan anchor biosynthesis, class O							53.0	56.0	55.0					9																	35092197		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092197C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1687G>C	9.37:g.35092197C>G	ENSP00000367880:p.Asp563His	False	False		Somatic	0				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000361778.2_Intron	p.D563H	NM_032634.3	NP_116023.2	WXS	Illumina HiSeq	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2081	-			563					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1687G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485923	0.63962	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56444	0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.73461	-0.3975	10	0.87932	D	0	-16.9008	19.6982	0.96039	0.0:1.0:0.0:0.0	.	563	Q8TEQ8	PIGO_HUMAN	H	563	ENSP00000367880:D563H;ENSP00000339382:D563H	ENSP00000339382:D563H	D	-	1	0	PIGO	35082197	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.975000	0.56859	2.894000	0.99253	0.655000	0.94253	GAT		0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	0	NM_032634		9:35092197
SLITRK5	26050	broad.mit.edu	37	13	88328647	88328647	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:88328647G>A	ENST00000325089.6	+	2	1223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	335					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAGGGGACTCGCCAACCCAAC	0.582																																						ENST00000325089.6		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1003-1005)cGc>cAc		SLIT and NTRK-like family, member 5							63.0	69.0	67.0					13																	88328647		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328647G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1004G>A	13.37:g.88328647G>A	ENSP00000366283:p.Arg335His	True	False		Somatic	0				SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	p.R335H	NM_015567.1	NP_056382.1	WXS	Illumina HiSeq	Phase_I	O94991	SLIK5_HUMAN			2	1223	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		335					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1004G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073303	0.76415	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59906	0.23;0.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.962	T	0.67511	-0.5652	9	.	.	.	-18.5332	17.6713	0.88218	0.0:0.0:1.0:0.0	.	94;335	B4DSH5;O94991	.;SLIK5_HUMAN	H	335;94	ENSP00000366283:R335H;ENSP00000442244:R94H	.	R	+	2	0	SLITRK5	87126648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.771000	0.95319	0.561000	0.74099	CGC		0.582	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	0			13:88328647
S100PBP	64766	broad.mit.edu	37	1	33291760	33291760	+	Silent	SNP	C	C	T	rs370290667		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:33291760C>T	ENST00000373475.5	+	3	314	c.60C>T	c.(58-60)gaC>gaT	p.D20D	S100PBP_ENST00000398243.3_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.D20D	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTAAAGACGGTGCCCCAT	0.458																																						ENST00000373475.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(58-60)gaC>gaT		S100P binding protein		C	,	1,4405	2.1+/-5.4	0,1,2202	164.0	150.0	155.0		60,60	2.7	0.8	1		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	S100PBP	NM_001017406.1,NM_022753.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	20/342,20/409	33291760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33291760C>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.60C>T	1.37:g.33291760C>T		False	False		Somatic	0				S100PBP_ENST00000398243.3_Silent_p.D20D|S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR	p.D20D	NM_022753.3	NP_073590.2	WXS	Illumina HiSeq	Phase_I	Q96BU1	S1PBP_HUMAN			3	314	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	20						Silent	SNP	ENST00000373475.5	37	c.60C>T	CCDS30666.1																																																																																				0.458	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	0	NM_022753		1:33291760
HSPA4	3308	broad.mit.edu	37	5	132432935	132432935	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:132432935G>A	ENST00000304858.2	+	15	2175	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	629					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGAAATGAGAGACAAGCTT	0.393																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1885-1887)aGa>aAa		heat shock 70kDa protein 4							249.0	230.0	236.0					5																	132432935		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432935G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1886G>A	5.37:g.132432935G>A	ENSP00000302961:p.Arg629Lys	True	False		Somatic	0					p.R629K	NM_002154.3	NP_002145.3	WXS	Illumina HiSeq	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2175	+			629					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1886G>A	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308483	0.95629	.	.	ENSG00000170606	ENST00000304858	T	0.12879	2.64	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	M	0.83953	2.67	0.80722	D	1	B	0.21071	0.051	B	0.23150	0.044	T	0.03684	-1.1013	10	0.66056	D	0.02	-17.85	14.6068	0.68486	0.0695:0.0:0.9305:0.0	.	629	P34932	HSP74_HUMAN	K	629	ENSP00000302961:R629K	ENSP00000302961:R629K	R	+	2	0	HSPA4	132460834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.455000	0.47813	0.579000	0.79373	AGA		0.393	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	0	NM_002154, NM_198431		5:132432935
CDC27	996	broad.mit.edu	37	17	45234401	45234401	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:45234401A>C	ENST00000066544.3	-	7	813	c.720T>G	c.(718-720)atT>atG	p.I240M	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M|CDC27_ENST00000531206.1_Missense_Mutation_p.I240M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATCAGGTGAAATTACAGCTG	0.358																																						ENST00000066544.3		NA																	0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(718-720)atT>atG		cell division cycle 27							42.0	47.0	46.0					17																	45234401		2191	4291	6482	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234401A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.720T>G	17.37:g.45234401A>C	ENSP00000066544:p.Ile240Met	True	False		Somatic	0				CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M	p.I240M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina HiSeq	Phase_I	P30260	CDC27_HUMAN			7	813	-			240					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.720T>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.615069	0.46631	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67865	-0.28;-0.24;0.04;-0.29;0.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	N	0.19112	0.55	0.51012	D	0.9999	B;B;B;B	0.28258	0.042;0.205;0.07;0.042	B;B;B;B	0.24394	0.01;0.053;0.033;0.015	T	0.49123	-0.8972	10	0.31617	T	0.26	-5.7037	13.444	0.61129	1.0:0.0:0.0:0.0	.	179;240;240;240	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	M	240;240;179;240;240	ENSP00000066544:I240M;ENSP00000434614:I240M;ENSP00000392802:I179M;ENSP00000437339:I240M;ENSP00000432105:I240M	ENSP00000066544:I240M	I	-	3	3	CDC27	42589400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.967000	0.56802	2.066000	0.61787	0.377000	0.23210	ATT		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2	0			17:45234401
FAM105A	54491	broad.mit.edu	37	5	14608915	14608915	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:14608915T>C	ENST00000274217.3	+	7	806	c.686T>C	c.(685-687)cTt>cCt	p.L229P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229	OTU.							p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328																																						ENST00000274217.3		NA																	1	Deletion - Frameshift(1)	p.S231fs*13(1)	large_intestine(1)	large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(685-687)cTt>cCt		family with sequence similarity 105, member A							77.0	77.0	77.0					5																	14608915		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14608915T>C		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.686T>C	5.37:g.14608915T>C	ENSP00000274217:p.Leu229Pro	True	False		Somatic	0					p.L229P	NM_019018.2	NP_061891.1	WXS	Illumina HiSeq	Phase_I	Q9NUU6	F105A_HUMAN			7	806	+	Lung NSC(4;0.00592)		229					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.686T>C	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162069	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	4.89	4.89	0.63831	.	0.109676	0.40064	N	0.001185	T	0.41213	0.1149	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.37454	-0.9705	10	0.87932	D	0	-8.3487	14.4858	0.67616	0.0:0.0:0.0:1.0	.	229	Q9NUU6	F105A_HUMAN	P	229	ENSP00000274217:L229P	ENSP00000274217:L229P	L	+	2	0	FAM105A	14661915	0.991000	0.36638	0.996000	0.52242	0.879000	0.50718	4.189000	0.58358	1.819000	0.53055	0.477000	0.44152	CTT		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	0	NM_019018		5:14608915
PPAPDC1A	196051	broad.mit.edu	37	10	122334762	122334762	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:122334762G>A	ENST00000398250.1	+	6	917	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	189					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTGTACTGCGCCATGATGAT	0.607																																						ENST00000398250.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(565-567)Gcc>Acc		phosphatidic acid phosphatase type 2 domain containing 1A							82.0	83.0	83.0					10																	122334762		2137	4242	6379	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334762G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.565G>A	10.37:g.122334762G>A	ENSP00000381302:p.Ala189Thr	False	False		Somatic	0				PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000398248.1_Intron	p.A189T	NM_001030059.1	NP_001025230.1	WXS	Illumina HiSeq	Phase_I	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	917	+		Lung NSC(174;0.1)|all_lung(145;0.132)	189					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.565G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703959	0.96812	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;D;D;D;D	0.82619	-1.34;-1.63;-1.63;-1.63;-1.63	5.76	5.76	0.90799	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.994	D	0.94162	0.7415	10	0.62326	D	0.03	-16.6314	19.9694	0.97278	0.0:0.0:1.0:0.0	.	189;126;189	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	T	126;189;189;189;179	ENSP00000403508:A126T;ENSP00000381302:A189T;ENSP00000407979:A189T;ENSP00000440493:A189T;ENSP00000358069:A179T	ENSP00000358069:A179T	A	+	1	0	PPAPDC1A	122324752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.719000	0.93026	0.655000	0.94253	GCC		0.607	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	XM_113641		10:122334762
WNT5A	7474	broad.mit.edu	37	3	55504238	55504238	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:55504238C>T	ENST00000474267.1	-	6	1546	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H|WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	342					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTCGTAGCCACGGCCGCAGCA	0.632																																						ENST00000474267.1		NA																	0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1024-1026)cGt>cAt		wingless-type MMTV integration site family, member 5A							77.0	82.0	80.0					3																	55504238		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504238C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1025G>A	3.37:g.55504238C>T	ENSP00000417310:p.Arg342His	False	False		Somatic	0				WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H|WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H	p.R342H			WXS	Illumina HiSeq	Phase_I	P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1546	-			342					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1025G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549874	0.96501	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.80033	-1.33;-1.33;-1.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95589	0.8653	10	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	342	P41221	WNT5A_HUMAN	H	342;342;253;327	ENSP00000417310:R342H;ENSP00000264634:R342H;ENSP00000420104:R327H	ENSP00000264634:R342H	R	-	2	0	WNT5A	55479278	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.813000	0.86123	2.687000	0.91594	0.655000	0.94253	CGT		0.632	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	0	NM_003392		3:55504238
ANKRD30A	91074	broad.mit.edu	37	10	37431076	37431076	+	Silent	SNP	C	C	T	rs267602478		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:37431076C>T	ENST00000602533.1	+	7	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_ENST00000374660.1_Silent_p.I361I|ANKRD30A_ENST00000361713.1_Silent_p.I361I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	417					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.393																																						ENST00000374660.1		NA																	0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1081-1083)atC>atT		ankyrin repeat domain 30A							98.0	98.0	98.0					10																	37431076		1844	4093	5937	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431076C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1083C>T	10.37:g.37431076C>T		False	False		Somatic	0				ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000602533.1_Silent_p.I361I	p.I361I			WXS	Illumina HiSeq	Phase_I	Q9BXX3	AN30A_HUMAN			7	1182	+			417					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1083C>T																																																																																					0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	NM_052997		10:37431076
TCTE1	202500	broad.mit.edu	37	6	44254126	44254126	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:44254126C>T	ENST00000371505.4	-	3	543	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_De_novo_Start_InFrame	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	141										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGTGGCACACGGGCCAGCGA	0.607																																						ENST00000371505.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(421-423)Gtg>Atg		t-complex-associated-testis-expressed 1							83.0	78.0	79.0					6																	44254126		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44254126C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.421G>A	6.37:g.44254126C>T	ENSP00000360560:p.Val141Met	True	False		Somatic	0				RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame	p.V141M	NM_182539.3	NP_872345.2	WXS	Illumina HiSeq	Phase_I	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	543	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		141					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.421G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205486	0.58234	.	.	ENSG00000146221	ENST00000371505	T	0.56103	0.48	4.95	4.08	0.47627	.	0.130007	0.53938	D	0.000059	T	0.45438	0.1342	M	0.78801	2.425	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	T	0.56601	-0.7952	10	0.72032	D	0.01	-28.4028	13.2188	0.59875	0.0:0.9224:0.0:0.0776	.	141	Q5JU00	TCTE1_HUMAN	M	141	ENSP00000360560:V141M	ENSP00000360560:V141M	V	-	1	0	TCTE1	44362104	0.355000	0.24921	0.987000	0.45799	0.989000	0.77384	0.902000	0.28459	1.079000	0.41038	-0.251000	0.11542	GTG		0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	0	NM_182539		6:44254126
DSCAML1	57453	broad.mit.edu	37	11	117651364	117651364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:117651364C>T	ENST00000321322.6	-	2	389	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	70	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTGCGGCACGTCGTAGATG	0.652																																						ENST00000321322.6		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(388-390)Gtg>Atg		Down syndrome cell adhesion molecule like 1							114.0	116.0	115.0					11																	117651364		2200	4296	6496	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651364C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.388G>A	11.37:g.117651364C>T	ENSP00000315465:p.Val130Met	False	False		Somatic	0				DSCAML1_ENST00000527706.1_Intron	p.V130M	NM_020693.2	NP_065744.2	WXS	Illumina HiSeq	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	389	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	70			Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.388G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613460	0.87359	.	.	ENSG00000177103	ENST00000321322	T	0.62105	0.05	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78761	0.4334	M	0.65677	2.01	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	9	0.72032	D	0.01	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	70	Q8TD84	DSCL1_HUMAN	M	130	ENSP00000315465:V130M	ENSP00000315465:V130M	V	-	1	0	DSCAML1	117156574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.536000	0.85505	0.563000	0.77884	GTG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	NM_020693		11:117651364
NRK	203447	broad.mit.edu	37	X	105167200	105167200	+	Missense_Mutation	SNP	C	C	T	rs376128030		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:105167200C>T	ENST00000243300.9	+	18	3004	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	NRK_ENST00000428173.2_Missense_Mutation_p.R902W	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	901					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGAAATCTTCCGGAATGATTG	0.438										HNSCC(51;0.14)																												ENST00000428173.2		NA																	0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(2704-2706)Cgg>Tgg		Nik related kinase			TRP/ARG	1,3319		0,1,1374,570	92.0	86.0	88.0		2701	1.8	1.0	X		88	0,6467		0,0,2335,1797	no	missense	NRK	NM_198465.2	101	0,1,3709,2367	TT,TC,CC,C		0.0,0.0301,0.0102	benign	901/1583	105167200	1,9786	1945	4132	6077	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105167200C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2701C>T	X.37:g.105167200C>T	ENSP00000434830:p.Arg901Trp	False	False	HNSCC(51;0.14)	Somatic	0				NRK_ENST00000243300.9_Missense_Mutation_p.R901W	p.R902W			WXS	Illumina HiSeq	Phase_I	Q7Z2Y5	NRK_HUMAN			18	3007	+			901					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2704C>T		.	.	.	.	.	.	.	.	.	.	c	9.801	1.180645	0.21787	3.01E-4	0.0	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76709	-1.03;-1.04	3.58	1.77	0.24775	.	0.531001	0.14438	N	0.319547	T	0.56455	0.1986	N	0.12182	0.205	0.80722	D	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.001	T	0.46541	-0.9184	10	0.49607	T	0.09	.	5.109	0.14800	0.0:0.7318:0.0:0.2682	.	569;901	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	W	901;902	ENSP00000434830:R901W;ENSP00000438378:R902W	ENSP00000434830:R901W	R	+	1	2	NRK	105053856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.938000	0.28965	0.336000	0.23639	0.597000	0.82753	CGG		0.438	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	0	NM_198465		X:105167200
PLIN4	729359	broad.mit.edu	37	19	4499495	4499495	+	IGR	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:4499495G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.R528H|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAGATTCGCCGTTACAAAGCG	0.622																																						ENST00000301284.4		NA																	0					NA						c.(1582-1584)cGt>cAt									28.0	33.0	31.0					19																	4499495		1980	4137	6117	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499495G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499495G>A		False	False		Somatic	0				HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H	p.R528H	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	WXS	Illumina HiSeq	Phase_I	Q7Z4V5	HDGR2_HUMAN			14	1647	+			528					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1583G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671914	0.67928	.	.	ENSG00000167674	ENST00000301284	T	0.57273	0.41	3.93	3.93	0.45458	Transcription factor IIS, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75525	-0.3287	10	0.87932	D	0	.	14.6987	0.69142	0.0:0.0:1.0:0.0	.	528;528	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	H	528	ENSP00000301284:R528H	ENSP00000301284:R528H	R	+	2	0	AC011498.1	4450495	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.914000	0.87478	2.039000	0.60335	0.462000	0.41574	CGT		0.622	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4499495
PIGO	84720	broad.mit.edu	37	9	35092359	35092359	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092359C>G	ENST00000378617.3	-	7	1919	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	509					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCACTAGATCTAGCTTCAGC	0.587																																						ENST00000378617.3		NA																	0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1525-1527)Gat>Cat		phosphatidylinositol glycan anchor biosynthesis, class O							54.0	56.0	55.0					9																	35092359		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092359C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1525G>C	9.37:g.35092359C>G	ENSP00000367880:p.Asp509His	False	False		Somatic	0				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000361778.2_Intron	p.D509H	NM_032634.3	NP_116023.2	WXS	Illumina HiSeq	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1919	-			509					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1525G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994626	0.54041	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56103	0.48;0.48	5.38	5.38	0.77491	.	0.324049	0.36740	N	0.002440	T	0.59238	0.2179	L	0.59436	1.845	0.80722	D	1	D	0.53151	0.958	P	0.50791	0.65	T	0.51616	-0.8683	10	0.15066	T	0.55	-3.8987	19.3311	0.94288	0.0:1.0:0.0:0.0	.	509	Q8TEQ8	PIGO_HUMAN	H	509	ENSP00000367880:D509H;ENSP00000339382:D509H	ENSP00000339382:D509H	D	-	1	0	PIGO	35082359	1.000000	0.71417	0.706000	0.30403	0.701000	0.40568	6.553000	0.73918	2.813000	0.96785	0.655000	0.94253	GAT		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	0	NM_032634		9:35092359
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000588623.1_Silent_p.E192E|ALG1_ENST00000544428.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																						ENST00000588623.1		NA																	3	Substitution - coding silent(3)	p.E303E(3)	lung(2)|urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(574-576)gaA>gaG		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G		False	False		Somatic	0				ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E	p.E192E			WXS	Illumina HiSeq	Phase_I	Q9BT22	ALG1_HUMAN			10	1676	+		Ovarian(90;0.0164)	303					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.576A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	0	NM_019109		16:5129756
SMPDL3B	27293	broad.mit.edu	37	1	28261707	28261707	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:28261707G>C	ENST00000373894.3	+	1	204	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	5					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGCTGCTCGCCTGGCTGAT	0.547																																						ENST00000373894.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(13-15)Gcc>Ccc		sphingomyelin phosphodiesterase, acid-like 3B							76.0	69.0	72.0					1																	28261707		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28261707G>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.13G>C	1.37:g.28261707G>C	ENSP00000363001:p.Ala5Pro	False	False		Somatic	0				SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR	p.A5P	NM_014474.2	NP_055289.2	WXS	Illumina HiSeq	Phase_I	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	1	204	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	5					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.13G>C	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051591	0.36181	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;T;D;D	0.90004	-2.6;1.73;-2.6;-2.6	3.79	-6.63	0.01807	.	3.314520	0.01170	U	0.006848	T	0.80899	0.4712	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.63800	-0.6555	10	0.41790	T	0.15	1.2634	3.014	0.06053	0.2355:0.1489:0.4691:0.1465	.	5;5;5	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	P	5	ENSP00000363001:A5P;ENSP00000388092:A5P;ENSP00000362995:A5P;ENSP00000449450:A5P	ENSP00000362995:A5P	A	+	1	0	SMPDL3B	28134294	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-1.654000	0.01984	-1.170000	0.02769	-1.336000	0.01259	GCC		0.547	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	0	NM_014474		1:28261707
FAM35A	54537	broad.mit.edu	37	10	88930319	88930319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:88930319C>T	ENST00000298784.1	+	5	1832	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	FAM35A_ENST00000298786.4_Missense_Mutation_p.P573L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	573										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATCTTCCTCCGAGGCAGCCT	0.418																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1717-1719)cCg>cTg		family with sequence similarity 35, member A							82.0	79.0	80.0					10																	88930319		2203	4298	6501	SO:0001583	missense	54537							g.chr10:88930319C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1718C>T	10.37:g.88930319C>T	ENSP00000298784:p.Pro573Leu	False	False		Somatic	0				FAM35A_ENST00000298784.1_Missense_Mutation_p.P573L	p.P573L			WXS	Illumina HiSeq	Phase_I	Q86V20	FA35A_HUMAN			5	1832	+			573					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.1718C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	0.300	-0.974237	0.02215	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.62105	0.05;0.05;0.05	4.26	-3.33	0.04958	.	1.405890	0.04709	N	0.417233	T	0.38480	0.1042	N	0.14661	0.345	0.25539	N	0.987192	B	0.09022	0.002	B	0.08055	0.003	T	0.13098	-1.0522	10	0.35671	T	0.21	-0.6937	2.3797	0.04351	0.5404:0.1118:0.2298:0.1179	.	573	Q86V20	FA35A_HUMAN	L	573	ENSP00000298786:P573L;ENSP00000298784:P573L;ENSP00000351064:P573L	ENSP00000298784:P573L	P	+	2	0	FAM35A	88920299	0.000000	0.05858	0.326000	0.25389	0.352000	0.29268	-1.271000	0.02828	-0.356000	0.08187	-1.268000	0.01426	CCG		0.418	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	0	NM_019054		10:88930319
CNTN1	1272	broad.mit.edu	37	12	41419082	41419082	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:41419082A>G	ENST00000551295.2	+	21	2771	c.2654A>G	c.(2653-2655)aAt>aGt	p.N885S	CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	885	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGGCCTGCAATAGTGCAGGG	0.483																																						ENST00000551295.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2653-2655)aAt>aGt		contactin 1							174.0	190.0	184.0					12																	41419082		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41419082A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2654A>G	12.37:g.41419082A>G	ENSP00000447006:p.Asn885Ser	False	False		Somatic	0				CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S	p.N885S	NM_001843.3	NP_001834.2	WXS	Illumina HiSeq	Phase_I	Q12860	CNTN1_HUMAN			21	2771	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	885			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2654A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499418	0.85069	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.61392	0.11;0.11;0.11	4.88	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81844	-0.0746	10	0.87932	D	0	.	15.2111	0.73225	1.0:0.0:0.0:0.0	.	874;885	Q12860-2;Q12860	.;CNTN1_HUMAN	S	885;885;874	ENSP00000447006:N885S;ENSP00000325660:N885S;ENSP00000261160:N874S	ENSP00000325660:N885S	N	+	2	0	CNTN1	39705349	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.581000	0.90788	2.127000	0.65507	0.533000	0.62120	AAT		0.483	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	0	NM_001843		12:41419082
GTF3C1	2975	broad.mit.edu	37	16	27476061	27476061	+	Missense_Mutation	SNP	G	G	A	rs149738247		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:27476061G>A	ENST00000356183.4	-	34	5467	c.5452C>T	c.(5452-5454)Cgg>Tgg	p.R1818W	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1818					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTTCAGCCGCACGGAGTGC	0.672																																						ENST00000356183.4		NA																	0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5452-5454)Cgg>Tgg		general transcription factor IIIC, polypeptide 1, alpha 220kDa		G	TRP/ARG	0,4106		0,0,2053	20.0	23.0	22.0		5452	3.0	0.1	16	dbSNP_134	22	1,7997		0,1,3998	yes	missense	GTF3C1	NM_001520.3	101	0,1,6051	AA,AG,GG		0.0125,0.0,0.0083	probably-damaging	1818/2110	27476061	1,12103	2053	3999	6052	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476061G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5452C>T	16.37:g.27476061G>A	ENSP00000348510:p.Arg1818Trp	False	False		Somatic	0				GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W	p.R1818W	NM_001520.3	NP_001511.2	WXS	Illumina HiSeq	Phase_I	Q12789	TF3C1_HUMAN			34	5467	-			1818					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5452C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.397047	0.25205	0.0	1.25E-4	ENSG00000077235	ENST00000356183	T	0.25414	1.8	4.99	3.0	0.34707	.	0.708126	0.13037	N	0.418845	T	0.33469	0.0864	L	0.54323	1.7	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53861	0.528;0.736	T	0.12192	-1.0557	10	0.59425	D	0.04	-13.8419	6.0954	0.20017	0.0874:0.0:0.5758:0.3368	.	1818;1818	Q12789;Q12789-3	TF3C1_HUMAN;.	W	1818	ENSP00000348510:R1818W	ENSP00000348510:R1818W	R	-	1	2	GTF3C1	27383562	0.089000	0.21612	0.068000	0.19968	0.010000	0.07245	0.457000	0.21875	0.510000	0.28216	-1.383000	0.01170	CGG		0.672	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	0	NM_001520		16:27476061
ACMSD	130013	broad.mit.edu	37	2	135621024	135621024	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:135621024C>T	ENST00000356140.5	+	5	445	c.309C>T	c.(307-309)acC>acT	p.T103T	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.T45T|ACMSD_ENST00000283054.4_Silent_p.T45T	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	103					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCAGCACCGTTGTGAGCT	0.562																																						ENST00000356140.5		NA																	0				endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.(307-309)acC>acT		aminocarboxymuconate semialdehyde decarboxylase							89.0	83.0	85.0					2																	135621024		2203	4300	6503	SO:0001819	synonymous_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135621024C>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.309C>T	2.37:g.135621024C>T		False	False		Somatic	0				ACMSD_ENST00000392928.1_Silent_p.T45T|ACMSD_ENST00000283054.4_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA	p.T103T	NM_138326.2	NP_612199.2	WXS	Illumina HiSeq	Phase_I	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	5	445	+			103					Q3B7X3|Q53SR5|Q96KY2	Silent	SNP	ENST00000356140.5	37	c.309C>T	CCDS2173.2																																																																																				0.562	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1	0			2:135621024
NCAN	1463	broad.mit.edu	37	19	19330065	19330065	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:19330065C>T	ENST00000252575.6	+	3	514	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	139	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGGGCTGTACCGCTGCCAGGT	0.677																																						ENST00000252575.6		NA																	0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(415-417)Cgc>Tgc		neurocan																																				SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330065C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.415C>T	19.37:g.19330065C>T	ENSP00000252575:p.Arg139Cys	False	False		Somatic	0					p.R139C	NM_004386.2	NP_004377.2	WXS	Illumina HiSeq	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	514	+			NA			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.415C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226025	0.79576	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.65916	-0.18	4.59	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001055	T	0.81772	0.4893	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85912	0.1441	10	0.87932	D	0	.	14.9149	0.70789	0.0:1.0:0.0:0.0	.	139	O14594	NCAN_HUMAN	C	153;139	ENSP00000252575:R139C	ENSP00000252575:R139C	R	+	1	0	NCAN	19191065	1.000000	0.71417	0.990000	0.47175	0.763000	0.43281	4.576000	0.60915	2.113000	0.64589	0.491000	0.48974	CGC		0.677	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	0	NM_004386		19:19330065
PCDHA2	56146	broad.mit.edu	37	5	140176604	140176604	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176604C>T	ENST00000526136.1	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.G685G	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	685					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGGCGCCGCGGGCT	0.642																																						ENST00000526136.1		NA																	0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2053-2055)ggC>ggT									72.0	75.0	74.0					5																	140176604		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140176604C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2055C>T	5.37:g.140176604C>T		True	False		Somatic	0				PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA2_ENST00000378132.1_Silent_p.G685G|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.G685G	NM_018905.2	NP_061728.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2055	+			NA					O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2055C>T	CCDS54914.1																																																																																				0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	0	NM_018905		5:140176604
NMBR	4829	broad.mit.edu	37	6	142409703	142409703	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:142409703C>T	ENST00000258042.1	-	1	233	c.93G>A	c.(91-93)ccG>ccA	p.P31P	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	31					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607																																						ENST00000258042.1		NA																	0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(91-93)ccG>ccA		neuromedin B receptor							46.0	45.0	46.0					6																	142409703		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409703C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.93G>A	6.37:g.142409703C>T		False	False		Somatic	0				RP11-137J7.2_ENST00000454401.1_RNA	p.P31P	NM_002511.2	NP_002502.2	WXS	Illumina HiSeq	Phase_I	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	233	-	Breast(32;0.155)		31					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.93G>A	CCDS5196.1																																																																																				0.607	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1	0			6:142409703
IL12A-AS1	101928376	broad.mit.edu	37	3	159818912	159818912	+	RNA	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:159818912G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		aaaaagaagCGAGATCGAGAC	0.483																																						ENST00000497452.1		NA																	0					NA																																														0							g.chr3:159818912G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818912G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	517	-			NA						RNA	SNP	ENST00000497452.1	37																																																																																						0.483	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1	0			3:159818912
KIAA1549L	25758	broad.mit.edu	37	11	33564583	33564583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:33564583G>A	ENST00000321505.4	+	1	763	c.583G>A	c.(583-585)Gca>Aca	p.A195T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A195T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A195T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	195						integral component of membrane (GO:0016021)											GGCGGTTCCCGCATCACCATC	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4		NA																	0					NA						c.(583-585)Gca>Aca		KIAA1549-like							138.0	137.0	137.0					11																	33564583		2019	4163	6182	SO:0001583	missense	25758							g.chr11:33564583G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.583G>A	11.37:g.33564583G>A	ENSP00000315295:p.Ala195Thr	True	False		Somatic	0	OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A195T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A195T	p.A195T			WXS	Illumina HiSeq	Phase_I					1	763	+			NA					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.583G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788206	0.16258	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.27	-2.92	0.05615	.	1.766360	0.03278	N	0.185747	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	9	0.11794	T	0.64	4.1324	2.5727	0.04798	0.2295:0.0925:0.4423:0.2357	.	195;195	E9PAT2;Q6ZVL6-2	.;.	T	195;195;195;35	.	ENSP00000265654:A195T	A	+	1	0	C11orf41	33521159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-0.642000	0.05480	-1.134000	0.01955	GCA		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	0	NM_012194		11:33564583
CSPG5	10675	broad.mit.edu	37	3	47618423	47618423	+	Missense_Mutation	SNP	G	G	A	rs372995316		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:47618423G>A	ENST00000383738.2	-	2	3191	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGTTATGCCGCACAAAGCCA	0.632																																						ENST00000383738.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)Cgg>Tgg		chondroitin sulfate proteoglycan 5 (neuroglycan C)							93.0	96.0	95.0					3																	47618423		2203	4299	6502	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618423G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1093C>T	3.37:g.47618423G>A	ENSP00000373244:p.Arg365Trp	False	False		Somatic	0				CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W	p.R365W	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	WXS	Illumina HiSeq	Phase_I	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3191	-			365					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1093C>T	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587159	0.66105	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.26810	1.76;1.73;1.71	4.63	-0.0101	0.13998	.	0.137586	0.46442	D	0.000299	T	0.39064	0.1064	L	0.44542	1.39	0.22581	N	0.998964	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.34725	-0.9817	10	0.72032	D	0.01	-10.6519	13.8559	0.63527	0.0:0.0:0.4812:0.5187	.	365;365	O95196;O95196-2	CSPG5_HUMAN;.	W	227;365;365	ENSP00000392096:R227W;ENSP00000373244:R365W;ENSP00000264723:R365W	ENSP00000264723:R365W	R	-	1	2	CSPG5	47593427	0.029000	0.19370	0.546000	0.28166	0.984000	0.73092	0.680000	0.25306	0.127000	0.18452	-0.182000	0.12963	CGG		0.632	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	0	NM_006574		3:47618423
TDGF1P3	6998	broad.mit.edu	37	X	109764525	109764525	+	RNA	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:109764525G>A	ENST00000602699.1	+	0	986					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										CCCAGGAGGAGCCTGCAATTC	0.572																																						ENST00000602699.1		NA																	0					NA																																														0							g.chrX:109764525G>A	M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764525G>A		False	False		Somatic	0						NR_002718.2		WXS	Illumina HiSeq	Phase_I					0	986	+			NA						RNA	SNP	ENST00000602699.1	37																																																																																						0.572	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2	0	NR_002718		X:109764525
PAPPA2	60676	broad.mit.edu	37	1	176640105	176640105	+	Splice_Site	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:176640105G>T	ENST00000367662.3	+	4	3155		c.e4-1		PAPPA2_ENST00000367661.3_Splice_Site	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGCTCTCTAGGGCATACATG	0.483																																						ENST00000367662.3		NA																	0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.e4-1		pappalysin 2							167.0	165.0	166.0					1																	176640105		1967	4159	6126	SO:0001630	splice_region_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640105G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1992-1G>T	1.37:g.176640105G>T		True	False		Somatic	0				PAPPA2_ENST00000367661.3_Splice_Site		NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			4	3155	+			NA					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	ENST00000367662.3	37		CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567297	0.86439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7796	0.91926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	174906728	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.613000	0.98350	2.509000	0.84616	0.655000	0.94253	.		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0		Intron	1:176640105
MDN1	23195	broad.mit.edu	37	6	90453401	90453401	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:90453401G>A	ENST00000369393.3	-	30	4326	c.4211C>T	c.(4210-4212)gCa>gTa	p.A1404V	MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1404					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCCAAGGCTGCAAATACCTG	0.463																																						ENST00000369393.3		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4210-4212)gCa>gTa		MDN1, midasin homolog (yeast)							119.0	113.0	115.0					6																	90453401		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90453401G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4211C>T	6.37:g.90453401G>A	ENSP00000358400:p.Ala1404Val	False	False		Somatic	0				MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V	p.A1404V			WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	30	4326	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1404					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4211C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299744	0.81136	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.60548	0.18;0.18	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.054981	0.64402	D	0.000001	D	0.84754	0.5542	H	0.98646	4.29	0.58432	D	0.999992	D	0.76494	0.999	D	0.80764	0.994	D	0.90653	0.4584	10	0.87932	D	0	.	19.3403	0.94337	0.0:0.0:1.0:0.0	.	1404	Q9NU22	MDN1_HUMAN	V	1404	ENSP00000358400:A1404V;ENSP00000413970:A1404V	ENSP00000358400:A1404V	A	-	2	0	MDN1	90510122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.689000	0.98673	2.562000	0.86427	0.563000	0.77884	GCA		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0			6:90453401
ZDHHC1	29800	broad.mit.edu	37	16	67432126	67432126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:67432126G>A	ENST00000348579.2	-	8	1257	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	306					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R306W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TGAATGGGCCGCATCTTGGGA	0.627																																						ENST00000348579.2		NA																	1	Substitution - Missense(1)	p.R306W(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(916-918)Cgg>Tgg		zinc finger, DHHC-type containing 1							113.0	102.0	106.0					16																	67432126		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432126G>A	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.916C>T	16.37:g.67432126G>A	ENSP00000340299:p.Arg306Trp	False	False		Somatic	0					p.R306W	NM_013304.2	NP_037436.1	WXS	Illumina HiSeq	Phase_I	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	8	1257	-		Ovarian(137;0.223)	306					O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.916C>T	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632181	0.67015	.	.	ENSG00000159714	ENST00000348579	T	0.38240	1.15	5.46	5.46	0.80206	.	816.138000	0.00166	N	0.000000	T	0.40791	0.1131	L	0.29908	0.895	0.32700	N	0.513021	D	0.69078	0.997	P	0.47470	0.548	T	0.32903	-0.9889	10	0.59425	D	0.04	.	12.0005	0.53228	0.0:0.0:0.8155:0.1845	.	306	Q8WTX9	ZDHC1_HUMAN	W	306	ENSP00000340299:R306W	ENSP00000340299:R306W	R	-	1	2	ZDHHC1	65989627	0.999000	0.42202	0.996000	0.52242	0.490000	0.33462	3.463000	0.53050	2.563000	0.86464	0.407000	0.27541	CGG		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	0	NM_013304		16:67432126
HRNR	388697	broad.mit.edu	37	1	152191932	152191932	+	Missense_Mutation	SNP	C	C	T	rs143281072	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152191932C>T	ENST00000368801.2	-	3	2248	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	725					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCCGGAGGAGTGA	0.547													c|||	7	0.00139776	0.0045	0.0014	5008	,	,		22127	0.0		0.0	False		,,,				2504	0.0					ENST00000368801.2		NA																	0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2173-2175)Ggc>Agc		hornerin		C	SER/GLY	15,4391		0,15,2188	196.0	198.0	197.0		2173	-1.1	0.0	1	dbSNP_134	197	0,8600		0,0,4300	yes	missense	HRNR	NM_001009931.1	56	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	benign	725/2851	152191932	15,12991	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191932C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2173G>A	1.37:g.152191932C>T	ENSP00000357791:p.Gly725Ser	False	False		Somatic	0				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G725S	NM_001009931.1	NP_001009931.1	WXS	Illumina HiSeq	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2248	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		725					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2173G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.690	0.690769	0.15039	0.003404	0.0	ENSG00000197915	ENST00000368801	T	0.05382	3.45	3.16	-1.07	0.09968	.	.	.	.	.	T	0.00845	0.0028	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.47420	-0.9119	9	0.12766	T	0.61	.	6.8467	0.23992	0.0:0.5976:0.0:0.4024	.	725	Q86YZ3	HORN_HUMAN	S	725	ENSP00000357791:G725S	ENSP00000357791:G725S	G	-	1	0	HRNR	150458556	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-7.746000	0.00030	-0.038000	0.13624	-0.454000	0.05498	GGC		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	0	XM_373868		1:152191932
ZFP82	284406	broad.mit.edu	37	19	36884959	36884959	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:36884959C>T	ENST00000392161.3	-	5	525	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATTTATTTCATAAATGTCA	0.303																																						ENST00000392161.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(283-285)Gaa>Aaa		ZFP82 zinc finger protein							56.0	63.0	61.0					19																	36884959		2165	4276	6441	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884959C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.283G>A	19.37:g.36884959C>T	ENSP00000431265:p.Glu95Lys	True	False		Somatic	0				ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	p.E95K	NM_133466.2	NP_597723.1	WXS	Illumina HiSeq	Phase_I	Q8N141	ZFP82_HUMAN			5	525	-			95					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.283G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728610	0.30593	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07908	3.25;3.15	4.4	1.97	0.26223	.	0.193575	0.25397	N	0.030976	T	0.06554	0.0168	N	0.25992	0.78	0.25084	N	0.99091	P	0.38788	0.647	B	0.40982	0.345	T	0.23833	-1.0177	10	0.51188	T	0.08	.	6.6527	0.22971	0.0:0.6709:0.0:0.329	.	95	Q8N141	ZFP82_HUMAN	K	95	ENSP00000431265:E95K;ENSP00000446080:E95K	ENSP00000431265:E95K	E	-	1	0	ZFP82	41576799	0.005000	0.15991	0.999000	0.59377	0.924000	0.55760	-0.052000	0.11865	0.477000	0.27464	0.650000	0.86243	GAA		0.303	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	0	NM_133466		19:36884959
HERPUD1	9709	broad.mit.edu	37	16	56973916	56973916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:56973916G>T	ENST00000439977.2	+	6	861	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	222					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTTTCCAGCTGAAAACCAGCC	0.507			T	ERG	prostate																																	ENST00000439977.2		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(664-666)Gaa>Taa		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							74.0	68.0	70.0					16																	56973916		2198	4300	6498	SO:0001587	stop_gained	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973916G>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.664G>T	16.37:g.56973916G>T	ENSP00000409555:p.Glu222*	True	False		Somatic	0				HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000344114.4_Intron	p.E222*	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	WXS	Illumina HiSeq	Phase_I	Q15011	HERP1_HUMAN			6	861	+			222					E9PGD1|O60644|Q6IAN8|Q96D92	Nonsense_Mutation	SNP	ENST00000439977.2	37	c.664G>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763994	0.69878	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	.	.	.	5.65	5.65	0.86999	.	0.211534	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.2101	8.4918	0.33104	0.0816:0.1675:0.7509:0.0	.	.	.	.	X	221;197;222	.	ENSP00000300302:E222X	E	+	1	0	HERPUD1	55531417	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	2.676000	0.46883	2.668000	0.90789	0.655000	0.94253	GAA		0.507	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5	0			16:56973916
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
BCORL1	63035	broad.mit.edu	37	X	129173179	129173179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:129173179G>A	ENST00000218147.7	+	10	4737	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N	BCORL1_ENST00000540052.1_Missense_Mutation_p.D1514N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567																																						ENST00000540052.1		NA																	0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4540-4542)Gat>Aat		BCL6 corepressor-like 1							129.0	83.0	99.0					X																	129173179		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129173179G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4540G>A	X.37:g.129173179G>A	ENSP00000218147:p.Asp1514Asn	False	False		Somatic	0				BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1514N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N	p.D1514N	NM_021946.4	NP_068765	WXS	Illumina HiSeq	Phase_I	Q5H9F3	BCORL_HUMAN			9	4584	+			1514					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4540G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032012	0.93575	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.78470	0.4288	N	0.16708	0.43	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.82602	-0.0376	9	0.87932	D	0	-11.2534	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1588;1514	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1514;1588;1384;1514;1188	ENSP00000218147:D1514N;ENSP00000307541:D1588N;ENSP00000352253:D1384N;ENSP00000437775:D1514N;ENSP00000399483:D1188N	ENSP00000218147:D1514N	D	+	1	0	BCORL1	129000860	1.000000	0.71417	0.710000	0.30468	0.866000	0.49608	9.476000	0.97823	2.305000	0.77605	0.529000	0.55759	GAT		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	0	NM_021946		X:129173179
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557																																						ENST00000467773.1		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87.0	80.0	83.0					7																	144097345		1892	4124	6016	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097345C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His	False	False		Somatic	0				NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	p.R302H	NM_001080413.3	NP_001073882.3	WXS	Illumina HiSeq	Phase_I	O60393	NOBOX_HUMAN			5	904	-	Melanoma(164;0.14)		302					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	0	XM_001134420		7:144097345
OFD1	8481	broad.mit.edu	37	X	13778776	13778776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:13778776C>T	ENST00000340096.6	+	16	2524	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	OFD1_ENST00000380567.1_Missense_Mutation_p.R593C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	733	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCCTCCAGACGCCTCTCTTC	0.567																																						ENST00000380567.1		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1777-1779)Cgc>Tgc		oral-facial-digital syndrome 1							37.0	40.0	39.0					X																	13778776		2203	4298	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778776C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2197C>T	X.37:g.13778776C>T	ENSP00000344314:p.Arg733Cys	False	False		Somatic	0				OFD1_ENST00000340096.6_Missense_Mutation_p.R733C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C	p.R593C			WXS	Illumina HiSeq	Phase_I	O75665	OFD1_HUMAN			17	2649	+			733					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1777C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895886	0.33442	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96802	-4.13;-4.1;-1.96	5.4	3.62	0.41486	.	0.544069	0.19617	N	0.109994	D	0.92672	0.7671	M	0.62723	1.935	0.24464	N	0.994429	P;P;P;B;P	0.41546	0.647;0.647;0.754;0.238;0.647	B;B;B;B;B	0.31337	0.091;0.091;0.128;0.04;0.091	D	0.86025	0.1509	10	0.51188	T	0.08	-0.794	7.0936	0.25297	0.0:0.7013:0.1382:0.1605	.	733;693;401;593;733	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	C	693;733;593	ENSP00000369923:R693C;ENSP00000344314:R733C;ENSP00000369941:R593C	ENSP00000344314:R733C	R	+	1	0	OFD1	13688697	0.340000	0.24792	0.135000	0.22099	0.844000	0.47949	0.699000	0.25586	0.473000	0.27368	0.529000	0.55759	CGC		0.567	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	0	NM_003611		X:13778776
AKAP11	11215	broad.mit.edu	37	13	42876975	42876975	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:42876975G>C	ENST00000025301.2	+	8	4268	c.4093G>C	c.(4093-4095)Gat>Cat	p.D1365H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1365					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTGATAATGGATCAGTATGC	0.413																																						ENST00000025301.2		NA																	0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4093-4095)Gat>Cat		A kinase (PRKA) anchor protein 11							102.0	94.0	96.0					13																	42876975		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876975G>C	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4093G>C	13.37:g.42876975G>C	ENSP00000025301:p.Asp1365His	False	False		Somatic	0					p.D1365H	NM_016248.3	NP_057332.1	WXS	Illumina HiSeq	Phase_I	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4268	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1365					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4093G>C	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424553	0.62733	.	.	ENSG00000023516	ENST00000025301	T	0.59906	0.23	6.16	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68952	2.095	0.53688	D	0.999979	P	0.36990	0.577	B	0.37508	0.252	T	0.65590	-0.6131	10	0.87932	D	0	.	17.5986	0.88020	0.0:0.1234:0.8766:0.0	.	1365	Q9UKA4	AKA11_HUMAN	H	1365	ENSP00000025301:D1365H	ENSP00000025301:D1365H	D	+	1	0	AKAP11	41774975	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.096000	0.94182	1.605000	0.50152	-0.181000	0.13052	GAT		0.413	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	0	NM_016248		13:42876975
FAM86DP	692099	broad.mit.edu	37	3	75478296	75478296	+	RNA	SNP	A	A	G			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:75478296A>G	ENST00000459803.1	-	0	369					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		CCAGCAAATAACTCCGGTGGC	0.572																																						ENST00000459803.1		NA																	0					NA																																														0							g.chr3:75478296A>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75478296A>G		False	False		Somatic	0						NR_024241.1		WXS	Illumina HiSeq	Phase_I					0	369	-			NA						RNA	SNP	ENST00000459803.1	37																																																																																						0.572	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	0	NR_024241		3:75478296
IL10RB	3588	broad.mit.edu	37	21	34648943	34648943	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:34648943G>A	ENST00000290200.2	+	3	324	c.216G>A	c.(214-216)acG>acA	p.T72T	AP000295.9_ENST00000433395.2_Missense_Mutation_p.R200Q	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CTACCTTGACGGAATGTGATT	0.423																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000433395.2		NA																	0					NA						c.(598-600)cGg>cAg									219.0	197.0	204.0					21																	34648943		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:34648943G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.216G>A	21.37:g.34648943G>A		False	False		Somatic	0				IL10RB_ENST00000290200.2_Silent_p.T72T	p.R200Q			WXS	Illumina HiSeq	Phase_I					5	599	+			NA					Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.599G>A	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371328	0.11409	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.73	-6.28	0.02020	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	-4.5826	1.0173	0.01510	0.3828:0.0988:0.2184:0.3001	.	.	.	.	Q	200	.	.	R	+	2	0	AP000295.9	33570813	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.065000	0.01386	-1.134000	0.02899	-0.136000	0.14681	CGG		0.423	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3	0			21:34648943
ITLN1	55600	broad.mit.edu	37	1	160850421	160850421	+	Silent	SNP	G	G	A	rs201111955		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443																																						ENST00000326245.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(640-642)ggC>ggT		intelectin 1 (galactofuranose binding)							181.0	181.0	181.0					1																	160850421		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850421G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.642C>T	1.37:g.160850421G>A		False	False		Somatic	0				ITLN1_ENST00000487531.1_5'UTR	p.G214G	NM_017625.2	NP_060095.2	WXS	Illumina HiSeq	Phase_I	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	757	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		214			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.642C>T	CCDS1211.1																																																																																				0.443	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	0	NM_017625		1:160850421
GPA33	10223	broad.mit.edu	37	1	167024256	167024256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:167024256G>A	ENST00000367868.3	-	6	1127	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	262						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCCTTCCCTCGGCAGCAGCAG	0.562																																						ENST00000367868.3		NA																	0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(784-786)Cga>Tga		glycoprotein A33 (transmembrane)							157.0	119.0	132.0					1																	167024256		2203	4300	6503	SO:0001587	stop_gained	10223					integral to plasma membrane	receptor activity	g.chr1:167024256G>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.784C>T	1.37:g.167024256G>A	ENSP00000356842:p.Arg262*	True	False		Somatic	0				RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.R262*	NM_005814.1	NP_005805.1	WXS	Illumina HiSeq	Phase_I	Q99795	GPA33_HUMAN			6	1127	-			262					Q5VZP6	Nonsense_Mutation	SNP	ENST00000367868.3	37	c.784C>T	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857738	0.97030	.	.	ENSG00000143167	ENST00000367868	.	.	.	4.67	3.64	0.41730	.	0.451102	0.20825	N	0.084995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7064	0.45958	0.0:0.0:0.7959:0.2041	.	.	.	.	X	262	.	ENSP00000356842:R262X	R	-	1	2	GPA33	165290880	0.983000	0.35010	0.792000	0.32020	0.425000	0.31504	2.725000	0.47294	2.135000	0.66039	0.484000	0.47621	CGA		0.562	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	0	NM_005814		1:167024256
LRFN2	57497	broad.mit.edu	37	6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													C|||	3	0.000599042	0.0023	0.0	5008	,	,		13249	0.0		0.0	False		,,,				2504	0.0					ENST00000338305.6		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2323-2325)cGg>cAg		leucine rich repeat and fibronectin type III domain containing 2		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	42.0	44.0	44.0		2324	4.4	1.0	6	dbSNP_134	44	0,8600		0,0,4300	yes	missense	LRFN2	NM_020737.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	775/790	40359728	4,13002	2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359728C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2324G>A	6.37:g.40359728C>T	ENSP00000345985:p.Arg775Gln	True	False		Somatic	0					p.R775Q	NM_020737.1	NP_065788.1	WXS	Illumina HiSeq	Phase_I	Q9ULH4	LRFN2_HUMAN			3	2866	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		775					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2324G>A	CCDS34443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.74	1.728986	0.30684	9.08E-4	0.0	ENSG00000156564	ENST00000338305	T	0.58060	0.36	5.27	4.39	0.52855	.	0.100654	0.64402	D	0.000004	T	0.13030	0.0316	N	0.14661	0.345	0.22489	N	0.999054	B	0.33857	0.429	B	0.20184	0.028	T	0.02471	-1.1154	10	0.44086	T	0.13	.	6.092	0.19999	0.0:0.7541:0.0:0.2459	.	775	Q9ULH4	LRFN2_HUMAN	Q	775	ENSP00000345985:R775Q	ENSP00000345985:R775Q	R	-	2	0	LRFN2	40467706	0.997000	0.39634	0.964000	0.40570	0.675000	0.39556	2.529000	0.45632	2.466000	0.83321	0.555000	0.69702	CGG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	0	XM_166372		6:40359728
DSCAM	1826	broad.mit.edu	37	21	41719644	41719644	+	Missense_Mutation	SNP	C	C	T	rs369481071		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:41719644C>T	ENST00000400454.1	-	6	1640	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	388	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTGTCCTTGCGCACAAAGCA	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1162-1164)cGc>cAc		Down syndrome cell adhesion molecule		C	HIS/ARG	0,4010		0,0,2005	237.0	216.0	223.0		1163	5.1	1.0	21		223	1,8335		0,1,4167	no	missense	DSCAM	NM_001389.3	29	0,1,6172	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	388/2013	41719644	1,12345	2005	4168	6173	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719644C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1163G>A	21.37:g.41719644C>T	ENSP00000383303:p.Arg388His	False	False		Somatic	0					p.R388H	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina HiSeq	Phase_I	O60469	DSCAM_HUMAN			6	1640	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	388			Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1163G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075691	0.94000	0.0	1.2E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.67569	2.06	0.51012	D	0.999908	D	0.89917	1.0	D	0.69142	0.962	T	0.80578	-0.1320	10	0.46703	T	0.11	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	388	O60469	DSCAM_HUMAN	H	388;140	ENSP00000383303:R388H;ENSP00000385342:R140H	ENSP00000383303:R388H	R	-	2	0	DSCAM	40641514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.344000	0.79699	0.655000	0.94253	CGC		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	NM_001389		21:41719644
RYR3	6263	broad.mit.edu	37	15	33858937	33858937	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:33858937G>A	ENST00000389232.4	+	12	1275	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	402					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATGCCAGCGTGAGGAGTCC	0.507																																						ENST00000389232.4		NA																	0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1204-1206)cGt>cAt		ryanodine receptor 3							179.0	182.0	181.0					15																	33858937		2124	4240	6364	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33858937G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1205G>A	15.37:g.33858937G>A	ENSP00000373884:p.Arg402His	False	False		Somatic	0				RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	p.R402H	NM_001036.3	NP_001027.3	WXS	Illumina HiSeq	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	12	1275	+		all_lung(180;7.18e-09)	402					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1205G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705268	0.15172	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96554	-4.05;-4.05	4.58	-3.34	0.04943	.	0.429405	0.25050	N	0.033529	D	0.84547	0.5496	N	0.02286	-0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77117	-0.2706	10	0.34782	T	0.22	.	6.8124	0.23812	0.5544:0.0:0.3254:0.1202	.	402;402	Q15413-2;Q15413	.;RYR3_HUMAN	H	402	ENSP00000373884:R402H;ENSP00000399610:R402H	ENSP00000354735:R402H	R	+	2	0	RYR3	31646229	0.042000	0.20092	0.048000	0.18961	0.734000	0.41952	0.520000	0.22878	-0.521000	0.06426	-0.133000	0.14855	CGT		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0			15:33858937
GRIN3A	116443	broad.mit.edu	37	9	104385694	104385694	+	Silent	SNP	G	G	A	rs143827340	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:104385694G>A	ENST00000361820.3	-	5	3120	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	840					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D840E(1)|p.D840D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGATGAAGGCGTCTAGTTTCT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19164	0.0		0.0	False		,,,				2504	0.001					ENST00000361820.3		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D840E(1)|p.D840D(1)	large_intestine(1)|lung(1)	breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2518-2520)gaC>gaT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	G		1,4405	2.1+/-5.4	0,1,2202	143.0	128.0	133.0		2520	-1.5	1.0	9	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		840/1116	104385694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104385694G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2520C>T	9.37:g.104385694G>A		False	False		Somatic	0					p.D840D	NM_133445.2	NP_597702.2	WXS	Illumina HiSeq	Phase_I	Q8TCU5	NMD3A_HUMAN			5	3120	-		Acute lymphoblastic leukemia(62;0.0568)	840					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.2520C>T	CCDS6758.1																																																																																				0.423	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1	0			9:104385694
SLC6A2	6530	broad.mit.edu	37	16	55690874	55690874	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:55690874G>A	ENST00000379906.2	+	1	523	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	90					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTACAAGAACGGCGGCGGTGA	0.622																																						ENST00000379906.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(268-270)Ggc>Agc		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						69.0	74.0	72.0					16																	55690874		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55690874G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.268G>A	16.37:g.55690874G>A	ENSP00000369237:p.Gly90Ser	True	False		Somatic	0				SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S	p.G90S	NM_001043.3	NP_001034.1	WXS	Illumina HiSeq	Phase_I	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	1	523	+			90					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.268G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879435	0.72294	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	D;D;D	0.87491	-2.26;-2.26;-2.26	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98465	1.0598	10	0.87932	D	0	.	19.2658	0.93984	0.0:0.0:1.0:0.0	.	90;90	Q96KH8;P23975	.;SC6A2_HUMAN	S	90	ENSP00000394956:G90S;ENSP00000369237:G90S;ENSP00000219833:G90S	ENSP00000219833:G90S	G	+	1	0	SLC6A2	54248375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.620000	0.88729	0.563000	0.77884	GGC		0.622	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	0			16:55690874
SLC7A14	57709	broad.mit.edu	37	3	170198388	170198388	+	Silent	SNP	C	C	T	rs373511991		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:170198388C>T	ENST00000231706.5	-	7	1998	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	561					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCGTGTGCCCCGTCGCTGCTG	0.507																																						ENST00000231706.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1681-1683)acG>acA		solute carrier family 7, member 14							87.0	80.0	83.0					3																	170198388		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198388C>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1683G>A	3.37:g.170198388C>T		True	False		Somatic	0				CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.T561T	NM_020949.2	NP_066000.2	WXS	Illumina HiSeq	Phase_I	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1998	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		NA					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1683G>A	CCDS33892.1																																																																																				0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	0	NM_020949		3:170198388
MUC16	94025	broad.mit.edu	37	19	9056276	9056276	+	Silent	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:9056276C>T	ENST00000397910.4	-	3	31373	c.31170G>A	c.(31168-31170)agG>agA	p.R10390R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10392	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGATGTCCTGCCTGGTT	0.488																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31168-31170)agG>agA		mucin 16, cell surface associated							188.0	186.0	186.0					19																	9056276		2067	4218	6285	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056276C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31170G>A	19.37:g.9056276C>T		True	False		Somatic	0					p.R10390R	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	31373	-			10392			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.31170G>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9056276
ITFG1	81533	broad.mit.edu	37	16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101.0	103.0	102.0					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr	False	False		Somatic	0				RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA	p.A509T	NM_030790.3	NP_110417.2	WXS	Illumina HiSeq	Phase_I	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	0	NM_030790		16:47196504
F7	2155	broad.mit.edu	37	13	113772782	113772782	+	Silent	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:113772782G>A	ENST00000375581.3	+	9	896	c.861G>A	c.(859-861)caG>caA	p.Q287Q	F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	287	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGTGGCGCAGGTCATCATCC	0.682																																						ENST00000375581.3		NA																	0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(859-861)caG>caA		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						80.0	71.0	74.0					13																	113772782		2202	4297	6499	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772782G>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.861G>A	13.37:g.113772782G>A		False	False		Somatic	0				F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q	p.Q287Q	NM_000131.4	NP_000122.1	WXS	Illumina HiSeq	Phase_I	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	896	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	287			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.861G>A	CCDS9528.1																																																																																				0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	0	NM_000131		13:113772782
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557																																						ENST00000335257.6		NA																	2	Substitution - Missense(2)	p.V268I(2)	prostate(1)|lung(1)	breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(802-804)Gtc>Atc		phosphatidylinositol transfer protein, cytoplasmic 1							121.0	127.0	125.0					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile	True	False		Somatic	0				PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I	p.V268I			WXS	Illumina HiSeq	Phase_I	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	0	NM_012417		17:65688807
MYO18B	84700	broad.mit.edu	37	22	26423121	26423121	+	Missense_Mutation	SNP	C	C	T	rs375762858		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr22:26423121C>T	ENST00000407587.2	+	43	7353	c.7184C>T	c.(7183-7185)gCg>gTg	p.A2395V	MYO18B_ENST00000335473.7_Missense_Mutation_p.A2394V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2394			G -> A (in dbSNP:rs6004901).			cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGGACGATGCGGGCTGTCCA	0.587																																						ENST00000335473.7		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7180-7182)gCg>gTg		myosin XVIIIB		C	VAL/ALA	0,3954		0,0,1977	66.0	72.0	70.0		7181	0.5	0.0	22		70	1,8283		0,1,4141	no	missense	MYO18B	NM_032608.5	64	0,1,6118	TT,TC,CC		0.0121,0.0,0.0082	benign	2394/2568	26423121	1,12237	1977	4142	6119	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423121C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7184C>T	22.37:g.26423121C>T	ENSP00000386096:p.Ala2395Val	True	False		Somatic	0				MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2395V	p.A2394V	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			43	7431	+			2394					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7181C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.414|4.414	0.076583|0.076583	0.08485|0.08485	0.0|0.0	1.21E-4|1.21E-4	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86769|.	-2.15;-2.15;-2.17|.	5.12|5.12	0.465|0.465	0.16711|0.16711	.|.	0.612932|.	0.14443|.	N|.	0.319248|.	T|T	0.40815|0.40815	0.1132|0.1132	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.32968|.	0.266;0.272;0.272;0.392;0.392|.	B;B;B;B;B|.	0.21151|.	0.033;0.015;0.015;0.033;0.033|.	T|T	0.33343|0.33343	-0.9872|-0.9872	10|5	0.51188|.	T|.	0.08|.	.|.	5.895|5.895	0.18935|0.18935	0.1315:0.6423:0.0:0.2262|0.1315:0.6423:0.0:0.2262	.|.	1907;2396;2394;2395;2394|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	V|W	2394;2394;2395|344	ENSP00000441229:A2394V;ENSP00000334563:A2394V;ENSP00000386096:A2395V|.	ENSP00000334563:A2394V|.	A|R	+|+	2|1	0|2	MYO18B|MYO18B	24753121|24753121	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	-0.144000|-0.144000	0.10280|0.10280	0.180000|0.180000	0.19960|0.19960	-0.969000|-0.969000	0.02612|0.02612	GCG|CGG		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26423121
