#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
NOL9	79707	broad.mit.edu	37	1	6592130	6592131	+	In_Frame_Ins	INS	-	-	CACACT	rs148428201		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:6592130_6592131insCACACT	ENST00000377705.5	-	9	1576_1577	c.1544_1545insAGTGTG	c.(1543-1545)cat>caAGTGTGt	p.515_515H>QVC		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	515					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTTGTTATGTGACTCTCT	0.47																																						ENST00000377705.5		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1543-1545)cat>caAGTGTGt		nucleolar protein 9																																				SO:0001652	inframe_insertion	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592130_6592131insCACACT	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1544_1545insAGTGTG	1.37:g.6592130_6592131insCACACT	ENSP00000366934:p.His515delinsGlnValCys	False	False		Somatic	0					p.515_515H>QVC	NM_024654.4	NP_078930.3	WXS	Illumina HiSeq	Phase_I	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	9	1576_1577	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	515					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	In_Frame_Ins	INS	ENST00000377705.5	37	c.1544_1545insAGTGTG	CCDS80.1																																																																																				0.470	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	0	NM_024654		1:6592130
MIER1	57708	broad.mit.edu	37	1	67436637	67436638	+	Frame_Shift_Ins	INS	-	-	TTAAACAAATTTCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:67436637_67436638insTTAAACAAATTTCT	ENST00000355356.3	+	8	909_910	c.760_761insTTAAACAAATTTCT	c.(760-762)gaafs	p.E254fs	MIER1_ENST00000355977.6_Frame_Shift_Ins_p.E191fs|MIER1_ENST00000371016.1_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000371018.3_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000401041.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000357692.2_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000371014.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000401042.3_Frame_Shift_Ins_p.E254fs	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	254	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAAAGACAATGAACAGGTCTGT	0.347																																						ENST00000357692.2		NA																	0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(811-813)gaafs		mesoderm induction early response 1, transcriptional regulator																																				SO:0001589	frameshift_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67436637_67436638insTTAAACAAATTTCT		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	Exception_encountered	1.37:g.67436637_67436638insTTAAACAAATTTCT	ENSP00000347514:p.Glu254fs	False	False		Somatic	0				MIER1_ENST00000371014.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000401041.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000355356.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000401042.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000371018.3_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000355977.6_Frame_Shift_Ins_p.E191fs|MIER1_ENST00000371016.1_Frame_Shift_Ins_p.E271fs	p.E271fs	NM_001146110.1	NP_001139582.1	WXS	Illumina HiSeq	Phase_I	Q8N108	MIER1_HUMAN			10	1068_1069	+			278			ELM2.|Interaction with HDAC1.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Frame_Shift_Ins	INS	ENST00000355356.3	37	c.811_812insTTAAACAAATTTCT	CCDS41348.1																																																																																				0.347	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	0	NM_020948		1:67436637
OVGP1	5016	broad.mit.edu	37	1	111957212	111957213	+	In_Frame_Ins	INS	-	-	CCAGAATAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957212_111957213insCCAGAATAG	ENST00000369732.3	-	11	1965_1966	c.1910_1911insCTATTCTGG	c.(1909-1911)gct>gcCTATTCTGGt	p.637_638insYSG		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGTTGTCAAAAGCTAGAGGAGT	0.475																																						ENST00000369732.3		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1909-1911)gct>gcCTATTCTGGt		oviductal glycoprotein 1, 120kDa																																				SO:0001652	inframe_insertion	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957212_111957213insCCAGAATAG	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1910_1911insCTATTCTGG	1.37:g.111957212_111957213insCCAGAATAG	ENSP00000358747:p.Ala637_Phe638insTyrSerGly	True	False		Somatic	0					p.637_638insYSG	NM_002557.3	NP_002548.3	WXS	Illumina HiSeq	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1965_1966	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	637					A0AV19|B9EGE1|Q15841	In_Frame_Ins	INS	ENST00000369732.3	37	c.1910_1911insCTATTCTGG	CCDS834.1																																																																																				0.475	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	0	NM_002557		1:111957212
OVGP1	5016	broad.mit.edu	37	1	111957214	111957215	+	Frame_Shift_Ins	INS	-	-	CAATCTCTTTTCCA	rs61741101	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957214_111957215insCAATCTCTTTTCCA	ENST00000369732.3	-	11	1963_1964	c.1908_1909insTGGAAAAGAGATTG	c.(1906-1911)ctagctfs	p.A637fs		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGTCAAAAGCTAGAGGAGTTT	0.48																																						ENST00000369732.3		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1906-1911)ctagctfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957214_111957215insCAATCTCTTTTCCA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1908_1909insTGGAAAAGAGATTG	1.37:g.111957214_111957215insCAATCTCTTTTCCA	ENSP00000358747:p.Ala637fs	False	False		Somatic	0					p.A637fs	NM_002557.3	NP_002548.3	WXS	Illumina HiSeq	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1963_1964	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	637					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1908_1909insTGGAAAAGAGATTG	CCDS834.1																																																																																				0.480	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	0	NM_002557		1:111957214
C10orf10	11067	broad.mit.edu	37	10	45472968	45472969	+	Frame_Shift_Ins	INS	-	-	AAAGGGAAATGCTTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:45472968_45472969insAAAGGGAAATGCTTTT	ENST00000298295.3	-	2	727_728	c.510_511insAAAAGCATTTCCCTTT	c.(508-513)cagcagfs	p.Q171fs	RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	171						mitochondrion (GO:0005739)				lung(1)	1						TCAGAGCTCTGCTGCCCATCCT	0.639																																						ENST00000298295.3		NA																	0				lung(1)	1						c.(508-513)cagcagfs		chromosome 10 open reading frame 10																																				SO:0001589	frameshift_variant	11067					mitochondrion		g.chr10:45472968_45472969insAAAGGGAAATGCTTTT	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.510_511insAAAAGCATTTCCCTTT	10.37:g.45472968_45472969insAAAGGGAAATGCTTTT	ENSP00000298295:p.Gln171fs	False	False		Somatic	0				C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	p.Q171fs	NM_007021.3	NP_008952.1	WXS	Illumina HiSeq	Phase_I	Q9NTK1	DEPP_HUMAN			2	727_728	-			171					B2R6A1|O94997|Q5T735|Q76MX8	Frame_Shift_Ins	INS	ENST00000298295.3	37	c.510_511insAAAAGCATTTCCCTTT	CCDS7210.1																																																																																				0.639	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	0	NM_007021		10:45472968
ANK3	288	broad.mit.edu	37	10	62149348	62149349	+	De_novo_Start_OutOfFrame	INS	-	-	TATGCCAGAGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62149348_62149349insTATGCCAGAGC	ENST00000280772.2	-	0	139_140				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAAAAGGTGATATCCTCAGG	0.406																																						ENST00000280772.1		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196								ankyrin 3, node of Ranvier (ankyrin G)																																						288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62149348_62149349insTATGCCAGAGC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.-53->GCTCTGGCATA	10.37:g.62149348_62149349insTATGCCAGAGC		False	False		Somatic	0				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron		NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			0	139_140	-			NA					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Translation_Start_Site	INS	ENST00000280772.2	37		CCDS7258.1																																																																																				0.406	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:62149348
RHOBTB1	9886	broad.mit.edu	37	10	62648928	62648929	+	Frame_Shift_Ins	INS	-	-	AGAGTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648928_62648929insAGAGTGT	ENST00000337910.5	-	6	834_835	c.497_498insACACTCT	c.(496-498)gggfs	p.-166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.-166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCAAAATATCCCCTCTCTTTAT	0.396																																						ENST00000337910.5		NA																	0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(496-498)gggfs		Rho-related BTB domain containing 1																																				SO:0001589	frameshift_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648928_62648929insAGAGTGT	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.497_498insACACTCT	10.37:g.62648928_62648929insAGAGTGT	ENSP00000338671:p.Gly166fs	True	False		Somatic	0				RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.-166fs	p.-166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina HiSeq	Phase_I	O94844	RHBT1_HUMAN			6	834_835	-	Prostate(12;0.0112)		NA						Frame_Shift_Ins	INS	ENST00000337910.5	37	c.497_498insACACTCT	CCDS7261.1																																																																																				0.396	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	0			10:62648928
RHOBTB1	9886	broad.mit.edu	37	10	62648930	62648931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648930_62648931insT	ENST00000337910.5	-	6	832_833	c.495_496insA	c.(493-498)agagggfs	p.G166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.G166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	166	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAAATATCCCCTCTCTTTATGG	0.391																																						ENST00000337910.5		NA																	0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(493-498)agagggfs		Rho-related BTB domain containing 1																																				SO:0001589	frameshift_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648930_62648931insT	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.496dupA	10.37:g.62648931_62648931dupT	ENSP00000338671:p.Gly166fs	True	False		Somatic	1				RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.G166fs	p.G166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina HiSeq	Phase_I	O94844	RHBT1_HUMAN			6	832_833	-	Prostate(12;0.0112)		166			Rho-like.			Frame_Shift_Ins	INS	ENST00000337910.5	37	c.495_496insA	CCDS7261.1																																																																																				0.391	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1	0			10:62648930
JMJD1C	221037	broad.mit.edu	37	10	64973791	64973792	+	Frame_Shift_Ins	INS	-	-	CCATTACCTACCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:64973791_64973792insCCATTACCTACCA	ENST00000399262.2	-	8	2353_2354	c.2135_2136insTGGTAGGTAATGG	c.(2134-2136)acafs	p.-712fs	JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.-493fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.-530fs|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.-493fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.T493I(1)|p.T712I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCTGTAAACTGTAAAATGCTC	0.381																																						ENST00000399262.2		NA																	2	Substitution - Missense(2)	p.T493I(1)|p.T712I(1)	lung(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2134-2136)acafs		jumonji domain containing 1C																																				SO:0001589	frameshift_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973791_64973792insCCATTACCTACCA	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2135_2136insTGGTAGGTAATGG	10.37:g.64973791_64973792insCCATTACCTACCA	ENSP00000382204:p.Thr712fs	True	False		Somatic	0				JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.-493fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.-530fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.-493fs	p.-712fs	NM_032776.1	NP_116165.1	WXS	Illumina HiSeq	Phase_I	Q15652	JHD2C_HUMAN			8	2353_2354	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		NA					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Ins	INS	ENST00000399262.2	37	c.2135_2136insTGGTAGGTAATGG	CCDS41532.1																																																																																				0.381	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	0	NM_004241		10:64973791
CCSER2	54462	broad.mit.edu	37	10	86131898	86131899	+	Frame_Shift_Ins	INS	-	-	CCTATTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:86131898_86131899insCCTATTAA	ENST00000224756.8	+	2	1275_1276	c.1090_1091insCCTATTAA	c.(1090-1092)gacfs	p.D364fs	CCSER2_ENST00000372088.2_Frame_Shift_Ins_p.D364fs|CCSER2_ENST00000359979.4_Frame_Shift_Ins_p.D364fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	364					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TGCTAATAAGGACCAAGAACTG	0.376																																						ENST00000224756.8		NA																	0					NA						c.(1090-1092)gacfs		coiled-coil serine-rich protein 2																																				SO:0001589	frameshift_variant	54462							g.chr10:86131898_86131899insCCTATTAA		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	Exception_encountered	10.37:g.86131898_86131899insCCTATTAA	ENSP00000224756:p.Asp364fs	False	False		Somatic	0				CCSER2_ENST00000359979.4_Frame_Shift_Ins_p.D364fs|CCSER2_ENST00000372088.2_Frame_Shift_Ins_p.D364fs	p.D364fs	NM_018999.2	NP_061872.2	WXS	Illumina HiSeq	Phase_I					2	1275_1276	+			NA					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Ins	INS	ENST00000224756.8	37	c.1090_1091insCCTATTAA	CCDS31235.1																																																																																				0.376	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	0	NM_018999		10:86131898
TCTN3	26123	broad.mit.edu	37	10	97424030	97424031	+	Frame_Shift_Ins	INS	-	-	CCTAGAGACTATGTGAAGAAAAGAAAATAATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:97424030_97424031insCCTAGAGACTATGTGAAGAAAAGAAAATAATC	ENST00000371217.5	-	14	1640_1641	c.1617_1618insGATTATTTTCTTTTCTTCACATAGTCTCTAGG	c.(1615-1620)tctttgfs	p.L540fs	TCTN3_ENST00000265993.9_Frame_Shift_Ins_p.L558fs|TCTN3_ENST00000430368.2_Frame_Shift_Ins_p.L392fs			Q6NUS6	TECT3_HUMAN	tectonic family member 3	540					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AGAGTTGTCAAAGATACTTCTG	0.45																																						ENST00000371217.4		NA																	0				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(1654-1659)tctttgfs		tectonic family member 3																																				SO:0001589	frameshift_variant	26123				apoptosis	integral to membrane		g.chr10:97424030_97424031insCCTAGAGACTATGTGAAGAAAAGAAAATAATC	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1617_1618insGATTATTTTCTTTTCTTCACATAGTCTCTAGG	10.37:g.97424030_97424031insCCTAGAGACTATGTGAAGAAAAGAAAATAATC	ENSP00000360261:p.Leu540fs	True	False		Somatic	0				TCTN3_ENST00000430368.1_Frame_Shift_Ins_p.L392fs|TCTN3_ENST00000265993.8_Frame_Shift_Ins_p.L540fs	p.L553fs			WXS	Illumina HiSeq	Phase_I	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	14	1845_1846	-		Colorectal(252;0.0815)	540					A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Frame_Shift_Ins	INS	ENST00000371217.5	37	c.1656_1657insGATTATTTTCTTTTCTTCACATAGTCTCTAGG	CCDS31258.2																																																																																				0.450	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	0	NM_015631		10:97424030
TLL2	7093	broad.mit.edu	37	10	98273378	98273379	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:98273378_98273379insCG	ENST00000357947.3	-	1	289_290	c.64_65insCG	c.(64-66)ggcfs	p.G22fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	22					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCCCCGGCGCCGCGAGGCAGC	0.728																																						ENST00000357947.3		NA																	0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(64-66)ggcfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98273378_98273379insCG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.63_64dupCG	10.37:g.98273381_98273382dupCG	ENSP00000350630:p.Gly22fs	False	False		Somatic	2				TLL2_ENST00000469598.1_5'UTR	p.G22fs	NM_012465.3	NP_036597.1	WXS	Illumina HiSeq	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	1	289_290	-		Colorectal(252;0.0846)	22					A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.64_65insCG	CCDS7449.1																																																																																				0.728	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	0			10:98273378
PGAM1	5223	broad.mit.edu	37	10	99192225	99192226	+	Frame_Shift_Ins	INS	-	-	GACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:99192225_99192226insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	ENST00000334828.5	+	4	857_858	c.709_710insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	c.(709-711)gagfs	p.E237fs	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	237					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GGGGGATGAAGAGACGGTGCGC	0.574																																						ENST00000334828.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(709-711)gagfs		phosphoglycerate mutase 1 (brain)																																				SO:0001589	frameshift_variant	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99192225_99192226insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"""Phosphoglycerate mutase A, nonmuscle form"""	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	Exception_encountered	10.37:g.99192225_99192226insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	ENSP00000359991:p.Glu237fs	False	False		Somatic	0				PGAM1_ENST00000467867.1_3'UTR	p.E237fs	NM_002629.2	NP_002620.1	WXS	Illumina HiSeq	Phase_I	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	4	857_858	+		Colorectal(252;0.162)	237					Q9BWC0	Frame_Shift_Ins	INS	ENST00000334828.5	37	c.709_710insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	CCDS7458.1																																																																																				0.574	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	0	NM_002629		10:99192225
CUTC	51076	broad.mit.edu	37	10	101503000	101503001	+	In_Frame_Ins	INS	-	-	GCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503000_101503001insGCT	ENST00000370476.5	+	4	413_414	c.284_285insGCT	c.(283-288)gaaatt>gaGCTaatt	p.95_96EI>ELI	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	95					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TCAGATCGTGAAATTGAGGTGA	0.441																																						ENST00000370476.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(283-288)gaaatt>gaGCTaatt		cutC copper transporter																																				SO:0001652	inframe_insertion	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503000_101503001insGCT	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	Exception_encountered	10.37:g.101503000_101503001insGCT	ENSP00000359507:p.Glu95_Ile96insLeu	True	False		Somatic	0				CUTC_ENST00000493385.1_3'UTR	p.95_96EI>ELI	NM_015960.2	NP_057044.2	WXS	Illumina HiSeq	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	4	413_414	+		Colorectal(252;0.234)	95					Q5TCZ8|Q9Y321	In_Frame_Ins	INS	ENST00000370476.5	37	c.284_285insGCT	CCDS7483.1																																																																																				0.441	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	0	NM_015960		10:101503000
CUTC	51076	broad.mit.edu	37	10	101503002	101503003	+	Frame_Shift_Ins	INS	-	-	AAGCCAATGATATATTATTGGTCAT	rs373400177		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503002_101503003insAAGCCAATGATATATTATTGGTCAT	ENST00000370476.5	+	4	415_416	c.286_287insAAGCCAATGATATATTATTGGTCAT	c.(286-288)attfs	p.-95fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter						copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGATCGTGAAATTGAGGTGATG	0.446																																						ENST00000370476.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(286-288)attfs		cutC copper transporter																																				SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503002_101503003insAAGCCAATGATATATTATTGGTCAT	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	Exception_encountered	10.37:g.101503002_101503003insAAGCCAATGATATATTATTGGTCAT	ENSP00000359507:p.Glu95fs	True	False		Somatic	0				CUTC_ENST00000493385.1_3'UTR	p.-95fs	NM_015960.2	NP_057044.2	WXS	Illumina HiSeq	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	4	415_416	+		Colorectal(252;0.234)	NA					Q5TCZ8|Q9Y321	Frame_Shift_Ins	INS	ENST00000370476.5	37	c.286_287insAAGCCAATGATATATTATTGGTCAT	CCDS7483.1																																																																																				0.446	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	0	NM_015960		10:101503002
NRAP	4892	broad.mit.edu	37	10	115374691	115374692	+	In_Frame_Ins	INS	-	-	AATTCCCTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:115374691_115374692insAATTCCCTG	ENST00000359988.3	-	28	3336_3337	c.3092_3093insCAGGGAATT	c.(3091-3093)gaa>gaCAGGGAATTa	p.1031_1031E>DREL	NRAP_ENST00000369360.3_In_Frame_Ins_p.1004_1004E>DREL|NRAP_ENST00000360478.3_In_Frame_Ins_p.996_996E>DREL|NRAP_ENST00000369358.4_In_Frame_Ins_p.1039_1039E>DREL	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCAGGATTCCTTATAACG	0.46																																						ENST00000359988.3		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3091-3093)gaa>gaCAGGGAATTa		nebulin-related anchoring protein																																				SO:0001652	inframe_insertion	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115374691_115374692insAATTCCCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3092_3093insCAGGGAATT	10.37:g.115374691_115374692insAATTCCCTG	ENSP00000353078:p.Glu1031delinsAspArgGluLeu	False	False		Somatic	0				NRAP_ENST00000369360.3_In_Frame_Ins_p.1004_1004E>DREL|NRAP_ENST00000360478.3_In_Frame_Ins_p.996_996E>DREL|NRAP_ENST00000369358.4_In_Frame_Ins_p.1039_1039E>DREL	p.1031_1031E>DREL	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	WXS	Illumina HiSeq	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	28	3336_3337	-		Colorectal(252;0.0233)|Breast(234;0.188)	1031						In_Frame_Ins	INS	ENST00000359988.3	37	c.3092_3093insCAGGGAATT	CCDS7579.1																																																																																				0.460	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	0	NM_006175		10:115374691
SMC3	9126	broad.mit.edu	37	10	112361496	112361497	+	Frame_Shift_Ins	INS	-	-	TACCTATAAAGCCAGTGTTATATGTTGAGTATAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	c.(2746-2748)aatfs	p.N916fs		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356																																						ENST00000361804.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2746-2748)aatfs		structural maintenance of chromosomes 3																																				SO:0001589	frameshift_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	Exception_encountered	10.37:g.112361496_112361497insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	ENSP00000354720:p.Asn916fs	True	False		Somatic	0					p.N916fs	NM_005445.3	NP_005436.1	WXS	Illumina HiSeq	Phase_I	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2872_2873	+		Breast(234;0.0848)|Lung NSC(174;0.238)	916					A8K156|O60464|Q5T482	Frame_Shift_Ins	INS	ENST00000361804.4	37	c.2746_2747insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	CCDS31285.1																																																																																				0.356	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	0	NM_005445		10:112361496
OR51B2	79345	broad.mit.edu	37	11	5344828	5344829	+	In_Frame_Ins	INS	-	-	TATCTAAACATAGGTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:5344828_5344829insTATCTAAACATAGGTTTA	ENST00000328813.2	-	1	753_754	c.699_700insTAAACCTATGTTTAGATA	c.(697-702)gccaaa>gccTAAACCTATGTTTAGATAaaa	p.233_234AK>A*TYV*IK	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGGGCTTTGGCTCTCTCTT	0.386																																						ENST00000328813.2		NA																	0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(697-702)gccaaa>gccTAAACCTATGTTTAGATAaaa		olfactory receptor, family 51, subfamily B, member 2																																				SO:0001652	inframe_insertion	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344828_5344829insTATCTAAACATAGGTTTA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.699_700insTAAACCTATGTTTAGATA	11.37:g.5344828_5344829insTATCTAAACATAGGTTTA	ENSP00000327540:p.Ala233_Lys234ins*ThrTyrVal*Ile	True	False		Somatic	0				HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	p.233_234AK>A*TYV*IK	NM_033180.4	NP_149420.4	WXS	Illumina HiSeq	Phase_I	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	753_754	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	233					Q96RD4	In_Frame_Ins	INS	ENST00000328813.2	37	c.699_700insTAAACCTATGTTTAGATA	CCDS31377.1																																																																																				0.386	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	0	NM_033180		11:5344828
FAR1	84188	broad.mit.edu	37	11	13732418	13732419	+	Splice_Site	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732418_13732419insA	ENST00000354817.3	+	5	867		c.e5+1		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTTCCAGTAAGTTGTTAG	0.351																																						ENST00000354817.3		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.e5+1		fatty acyl CoA reductase 1																																				SO:0001630	splice_region_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13732418_13732419insA	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.723+1->A	11.37:g.13732418_13732419insA		False	False		Somatic	0				FAR1_ENST00000527202.1_Splice_Site		NM_032228.5	NP_115604.1	WXS	Illumina HiSeq	Phase_I	Q8WVX9	FACR1_HUMAN			5	867	+			NA					D3DQW8|Q5CZA3	Splice_Site	INS	ENST00000354817.3	37		CCDS7813.1																																																																																				0.351	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	0	NM_032228	Intron	11:13732418
FAR1	84188	broad.mit.edu	37	11	13732419	13732420	+	Splice_Site	INS	-	-	ATTTTACTATAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732419_13732420insATTTTACTATAA	ENST00000354817.3	+	5	867		c.e5+2		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTCCAGTAAGTTGTTAGA	0.351																																						ENST00000354817.3		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.e5+2		fatty acyl CoA reductase 1																																				SO:0001630	splice_region_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13732419_13732420insATTTTACTATAA	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.723+2->ATTTTACTATAA	11.37:g.13732419_13732420insATTTTACTATAA		False	False		Somatic	0				FAR1_ENST00000527202.1_Splice_Site		NM_032228.5	NP_115604.1	WXS	Illumina HiSeq	Phase_I	Q8WVX9	FACR1_HUMAN			5	867	+			NA					D3DQW8|Q5CZA3	Splice_Site	INS	ENST00000354817.3	37		CCDS7813.1																																																																																				0.351	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	0	NM_032228	Intron	11:13732419
LRRC4C	57689	broad.mit.edu	37	11	40136146	40136147	+	In_Frame_Ins	INS	-	-	TACACAGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:40136146_40136147insTACACAGTT	ENST00000278198.2	-	2	3659_3660	c.1696_1697insAACTGTGTA	c.(1696-1698)gtt>gAACTGTGTAtt	p.566_566V>ELCI	LRRC4C_ENST00000530763.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000527150.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000528697.1_In_Frame_Ins_p.566_566V>ELCI			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	566					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATAATTTCAACAGTCCTTGTT	0.475																																						ENST00000278198.2		NA																	0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1696-1698)gtt>gAACTGTGTAtt		leucine rich repeat containing 4C																																				SO:0001652	inframe_insertion	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136146_40136147insTACACAGTT	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1696_1697insAACTGTGTA	11.37:g.40136146_40136147insTACACAGTT	ENSP00000278198:p.Val566delinsGluLeuCysIle	False	False		Somatic	0				LRRC4C_ENST00000527150.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000528697.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000530763.1_In_Frame_Ins_p.566_566V>ELCI	p.566_566V>ELCI			WXS	Illumina HiSeq	Phase_I	Q9HCJ2	LRC4C_HUMAN			2	3659_3660	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	566					A8K0T1|Q7L0N3	In_Frame_Ins	INS	ENST00000278198.2	37	c.1696_1697insAACTGTGTA	CCDS31464.1																																																																																				0.475	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	0	NM_020929		11:40136146
TRIM33	51592	broad.mit.edu	37	1	114948223	114948224	+	In_Frame_Ins	INS	-	-	AGGTACCAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:114948223_114948224insAGGTACCAG	ENST00000358465.2	-	15	2659_2660	c.2576_2577insCTGGTACCT	c.(2575-2577)aat>aaCTGGTACCTt	p.859_860insWYL	TRIM33_ENST00000369543.2_In_Frame_Ins_p.859_860insWYL|TRIM33_ENST00000450349.2_In_Frame_Ins_p.491_492insWYL|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	859					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGACTTTCCATTAACAAGGCT	0.46			T	RET	papillary thyroid																																	ENST00000358465.2		NA		Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2575-2577)aat>aaCTGGTACCTt		tripartite motif containing 33																																				SO:0001652	inframe_insertion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948223_114948224insAGGTACCAG	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2576_2577insCTGGTACCT	1.37:g.114948223_114948224insAGGTACCAG	ENSP00000351250:p.Asn859_Gly860insTrpTyrLeu	False	False		Somatic	0				TRIM33_ENST00000450349.2_In_Frame_Ins_p.491_492insWYL|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_In_Frame_Ins_p.859_860insWYL	p.859_860insWYL	NM_015906.3	NP_056990.3	WXS	Illumina HiSeq	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2659_2660	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	859					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Ins	INS	ENST00000358465.2	37	c.2576_2577insCTGGTACCT	CCDS872.1																																																																																				0.460	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	0	NM_015906		1:114948223
NOTCH2	4853	broad.mit.edu	37	1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2		NA		Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6637-6642)ggggcc>gggAGCTATgcc		notch 2																																				SO:0001652	inframe_insertion	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458705_120458706insATAGCT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6639_6640insAGCTAT	1.37:g.120458705_120458706insATAGCT	ENSP00000256646:p.Gly2213_Ala2214insSerTyr	True	False		Somatic	0					p.2213_2214GA>GSYA	NM_024408.3	NP_077719.2	WXS	Illumina HiSeq	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6858_6859	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2213					Q5T3X7|Q99734|Q9H240	In_Frame_Ins	INS	ENST00000256646.2	37	c.6639_6640insAGCTAT	CCDS908.1																																																																																				0.564	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	NM_024408		1:120458705
PDE4DIP	9659	broad.mit.edu	37	1	144871881	144871883	+	Splice_Site	DEL	CCT	CCT	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:144871881_144871883delCCT	ENST00000369354.3	-	32	5270	c.5081delAGG	c.(5080-5082)gag>gg	p.E1694del	PDE4DIP_ENST00000530740.1_Splice_Site_p.E1779del|PDE4DIP_ENST00000369356.4_Splice_Site_p.E1694del|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Splice_Site_p.E1830del			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1694					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAATGAAAGCCTAGGAAAAGAA	0.468			T	PDGFRB	MPD																																	ENST00000530740.1		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5335-5337)gag>gg		phosphodiesterase 4D interacting protein																																				SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871881_144871883delCCT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5081-1AGG>-	1.37:g.144871881_144871883delCCT		False	False		Somatic	1				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Splice_Site_p.E1694del|PDE4DIP_ENST00000369356.4_Splice_Site_p.E1694del|PDE4DIP_ENST00000369359.4_Splice_Site_p.E1830del|PDE4DIP_ENST00000524974.1_5'UTR	p.E1779del			WXS	Illumina HiSeq	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5374	-			1694					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site	DEL	ENST00000369354.3	37	c.5336delAGG	CCDS30824.1																																																																																				0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	0	NM_022359	In_Frame_Del	1:144871881
SEC22B	9554	broad.mit.edu	37	1	145115910	145115911	+	RNA	INS	-	-	AAGTATTTTACCGAAAGTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145115910_145115911insAAGTATTTTACCGAAAGTAT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACAGTCACTGGTAAGGGAGAAC	0.401																																						ENST00000453618.1		NA																	0					NA								SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145115910_145115911insAAGTATTTTACCGAAAGTAT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115910_145115911insAAGTATTTTACCGAAAGTAT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	O75396	SC22B_HUMAN			0	996_997	+			NA					A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.401	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	0	NM_004892		1:145115910
ARL14EP	120534	broad.mit.edu	37	11	30358327	30358328	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:30358327_30358328insG	ENST00000282032.3	+	4	983_984	c.768_769insG	c.(769-771)aaafs	p.K257fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	257						cytoplasm (GO:0005737)											TAATTCATAATAAACATGCTGG	0.386																																						ENST00000282032.3		NA																	0					NA						c.(769-771)aaafs		ADP-ribosylation factor-like 14 effector protein																																				SO:0001589	frameshift_variant	120534							g.chr11:30358327_30358328insG	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	Exception_encountered	11.37:g.30358327_30358328insG	ENSP00000282032:p.Lys257fs	True	False		Somatic	0					p.K257fs	NM_152316.1	NP_689529.1	WXS	Illumina HiSeq	Phase_I					4	983_984	+			NA					Q5HYH9	Frame_Shift_Ins	INS	ENST00000282032.3	37	c.768_769insG	CCDS7869.1																																																																																				0.386	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	0	NM_152316		11:30358327
ARL14EP	120534	broad.mit.edu	37	11	30358329	30358330	+	Frame_Shift_Ins	INS	-	-	TTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:30358329_30358330insTTAT	ENST00000282032.3	+	4	985_986	c.770_771insTTAT	c.(769-774)aaacatfs	p.KH257fs		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	257						cytoplasm (GO:0005737)											ATTCATAATAAACATGCTGGAT	0.381																																						ENST00000282032.3		NA																	0					NA						c.(769-774)aaacatfs		ADP-ribosylation factor-like 14 effector protein																																				SO:0001589	frameshift_variant	120534							g.chr11:30358329_30358330insTTAT	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	Exception_encountered	11.37:g.30358329_30358330insTTAT	ENSP00000282032:p.Lys257fs	True	False		Somatic	0					p.KH257fs	NM_152316.1	NP_689529.1	WXS	Illumina HiSeq	Phase_I					4	985_986	+			NA					Q5HYH9	Frame_Shift_Ins	INS	ENST00000282032.3	37	c.770_771insTTAT	CCDS7869.1																																																																																				0.381	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	0	NM_152316		11:30358329
LOC440040	440040	broad.mit.edu	37	11	49831537	49831538	+	RNA	INS	-	-	GATATGAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:49831537_49831538insGATATGAC	ENST00000527477.1	+	0	1762_1763																											AAGAATCAGAATGGCAATATAT	0.45																																						ENST00000527477.1		NA																	0					NA																																														0							g.chr11:49831537_49831538insGATATGAC																													11.37:g.49831537_49831538insGATATGAC		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1762_1763	+			NA						RNA	INS	ENST00000527477.1	37																																																																																						0.450	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2	0			11:49831537
OR5I1	10798	broad.mit.edu	37	11	55703516	55703517	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:55703516_55703517insAGCT	ENST00000301532.3	-	1	359_360	c.360_361insAGCT	c.(358-363)atggccfs	p.A121fs		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	121					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGATCATAGGCCATGGCGGCCA	0.446																																						ENST00000301532.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(358-363)atggccfs		olfactory receptor, family 5, subfamily I, member 1																																				SO:0001589	frameshift_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703516_55703517insAGCT	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.360_361insAGCT	11.37:g.55703516_55703517insAGCT	ENSP00000301532:p.Ala121fs	False	False		Somatic	0					p.A121fs	NM_006637.1	NP_006628.1	WXS	Illumina HiSeq	Phase_I	Q13606	OR5I1_HUMAN			1	359_360	-			121					Q6IEU4	Frame_Shift_Ins	INS	ENST00000301532.3	37	c.360_361insAGCT	CCDS7949.1																																																																																				0.446	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	0	NM_006637		11:55703516
OR5B17	219965	broad.mit.edu	37	11	58126522	58126523	+	Frame_Shift_Ins	INS	-	-	CAAAGGTTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58126522_58126523insCAAAGGTTATA	ENST00000357377.3	-	1	19_20	c.20_21insTATAACCTTTG	c.(19-21)gtgfs	p.-7fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATTCACTCACCTCTGTATT	0.406																																						ENST00000357377.3		NA																	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(19-21)gtgfs		olfactory receptor, family 5, subfamily B, member 17																																				SO:0001589	frameshift_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126522_58126523insCAAAGGTTATA	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.20_21insTATAACCTTTG	11.37:g.58126522_58126523insCAAAGGTTATA	ENSP00000349945:p.Val7fs	True	False		Somatic	0					p.-7fs	NM_001005489.1	NP_001005489.1	WXS	Illumina HiSeq	Phase_I	Q8NGF7	OR5BH_HUMAN			1	19_20	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	NA					Q6IEX1	Frame_Shift_Ins	INS	ENST00000357377.3	37	c.20_21insTATAACCTTTG	CCDS31548.1																																																																																				0.406	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	0	NM_001005489		11:58126522
ALG8	79053	broad.mit.edu	37	11	77835185	77835186	+	Frame_Shift_Ins	INS	-	-	GTACAGTGTTAAGTAGTATTAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77835185_77835186insGTACAGTGTTAAGTAGTATTAAC	ENST00000299626.5	-	3	320_321	c.249_250insGTTAATACTACTTAACACTGTAC	c.(247-252)aaatatfs	p.Y84fs	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Frame_Shift_Ins_p.Y84fs	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	84					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGATCAAAATATTTGGCAACAT	0.381																																						ENST00000376156.3		NA																	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30						c.(247-252)aaatatfs		ALG8, alpha-1,3-glucosyltransferase																																				SO:0001589	frameshift_variant	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77835185_77835186insGTACAGTGTTAAGTAGTATTAAC	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.249_250insGTTAATACTACTTAACACTGTAC	11.37:g.77835185_77835186insGTACAGTGTTAAGTAGTATTAAC	ENSP00000299626:p.Tyr84fs	True	False		Somatic	0				ALG8_ENST00000299626.5_Frame_Shift_Ins_p.Y84fs|ALG8_ENST00000532552.2_Intron	p.Y84fs	NM_001007027.2	NP_001007028.1	WXS	Illumina HiSeq	Phase_I	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		3	252_253	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		84					A6NDW6|O60860	Frame_Shift_Ins	INS	ENST00000299626.5	37	c.249_250insGTTAATACTACTTAACACTGTAC	CCDS8258.1																																																																																				0.381	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	0	NM_024079		11:77835185
USP35	57558	broad.mit.edu	37	11	77921262	77921263	+	Frame_Shift_Ins	INS	-	-	TCCTCCTCCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77921262_77921263insTCCTCCTCCT	ENST00000529308.1	+	10	2622_2623	c.2361_2362insTCCTCCTCCT	c.(2362-2364)ctgfs	p.L788fs	USP35_ENST00000526425.1_Frame_Shift_Ins_p.L519fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.L374fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Frame_Shift_Ins_p.L356fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	788	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGTGTGCCTCCCTGCAGGATGC	0.624																																						ENST00000529308.1		NA																	0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2362-2364)ctgfs		ubiquitin specific peptidase 35																																				SO:0001589	frameshift_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921262_77921263insTCCTCCTCCT	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		Exception_encountered	11.37:g.77921262_77921263insTCCTCCTCCT	ENSP00000431876:p.Leu788fs	True	False		Somatic	0				USP35_ENST00000530267.1_Frame_Shift_Ins_p.L356fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Ins_p.L519fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.L374fs	p.L788fs	NM_020798.2	NP_065849.1	WXS	Illumina HiSeq	Phase_I	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2622_2623	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		788						Frame_Shift_Ins	INS	ENST00000529308.1	37	c.2361_2362insTCCTCCTCCT	CCDS41693.1																																																																																				0.624	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	0	XM_290527		11:77921262
CCDC83	220047	broad.mit.edu	37	11	85630478	85630479	+	Frame_Shift_Ins	INS	-	-	ACCAGCTTGATAGATTAGGCTTTCTTTATTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:85630478_85630479insACCAGCTTGATAGATTAGGCTTTCTTTATTA	ENST00000342404.3	+	11	1383_1384	c.1167_1168insACCAGCTTGATAGATTAGGCTTTCTTTATTA	c.(1168-1170)ccafs	p.P390fs	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.P290fs|CCDC83_ENST00000280245.4_Frame_Shift_Ins_p.P421fs			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	390										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAGGAAATTCCAGTCAAACT	0.421																																						ENST00000280245.4		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(1261-1263)ccafs		coiled-coil domain containing 83																																				SO:0001589	frameshift_variant	220047							g.chr11:85630478_85630479insACCAGCTTGATAGATTAGGCTTTCTTTATTA	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	Exception_encountered	11.37:g.85630478_85630479insACCAGCTTGATAGATTAGGCTTTCTTTATTA	ENSP00000344512:p.Pro390fs	False	False		Somatic	0				CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.P390fs|CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.P290fs|RP11-90K17.2_ENST00000531414.1_RNA	p.P421fs	NM_173556.3	NP_775827.2	WXS	Illumina HiSeq	Phase_I	Q8IWF9	CCD83_HUMAN			12	1772_1773	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	390					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Frame_Shift_Ins	INS	ENST00000342404.3	37	c.1260_1261insACCAGCTTGATAGATTAGGCTTTCTTTATTA																																																																																					0.421	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	0	NM_173556		11:85630478
FAT3	120114	broad.mit.edu	37	11	92086172	92086173	+	Frame_Shift_Ins	INS	-	-	ATACCTATTCTTTTCATCA	rs367741385		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	ENST00000298047.6	+	1	911_912	c.894_895insATACCTATTCTTTTCATCA	c.(895-897)gaafs	p.E299fs	FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.E149fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGAGATCGAATCTGTTTC	0.436										TCGA Ovarian(4;0.039)																												ENST00000525166.1		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(445-447)gaafs		FAT atypical cadherin 3																																				SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92086172_92086173insATACCTATTCTTTTCATCA	ENSP00000298047:p.Glu299fs	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000298047.6_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs	p.E149fs			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			1	466_467	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	299			Cadherin 1.		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37	c.444_445insATACCTATTCTTTTCATCA																																																																																					0.436	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92086172
KDELC2	143888	broad.mit.edu	37	11	108357108	108357109	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357108_108357109insGT	ENST00000323468.5	-	3	524_525	c.459_460insAC	c.(457-462)actcttfs	p.L154fs	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Frame_Shift_Ins_p.L98fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.L98fs	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	154						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GGACAAGAAAGAGTCTTCTGCC	0.465																																						ENST00000434945.2		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(289-294)actcttfs		KDEL (Lys-Asp-Glu-Leu) containing 2																																				SO:0001589	frameshift_variant	143888					endoplasmic reticulum lumen		g.chr11:108357108_108357109insGT	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.459_460insAC	11.37:g.108357108_108357109insGT	ENSP00000315386:p.Leu154fs	True	False		Somatic	0				KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.L154fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.L98fs	p.L98fs			WXS	Illumina HiSeq	Phase_I	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	593_594	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	154					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Frame_Shift_Ins	INS	ENST00000323468.5	37	c.291_292insAC	CCDS41711.1																																																																																				0.465	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	0	NM_153705		11:108357108
KDELC2	143888	broad.mit.edu	37	11	108357110	108357111	+	Frame_Shift_Ins	INS	-	-	GAGAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357110_108357111insGAGAA	ENST00000323468.5	-	3	522_523	c.457_458insTTCTC	c.(457-459)actfs	p.T153fs	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Frame_Shift_Ins_p.T97fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.T97fs	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	153						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACAAGAAAGAGTCTTCTGCCAG	0.465																																						ENST00000434945.2		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(289-291)actfs		KDEL (Lys-Asp-Glu-Leu) containing 2																																				SO:0001589	frameshift_variant	143888					endoplasmic reticulum lumen		g.chr11:108357110_108357111insGAGAA	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.457_458insTTCTC	11.37:g.108357110_108357111insGAGAA	ENSP00000315386:p.Thr153fs	False	False		Somatic	0				KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.T153fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.T97fs	p.T97fs			WXS	Illumina HiSeq	Phase_I	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	591_592	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	153					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Frame_Shift_Ins	INS	ENST00000323468.5	37	c.289_290insTTCTC	CCDS41711.1																																																																																				0.465	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	0	NM_153705		11:108357110
OR6T1	219874	broad.mit.edu	37	11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCA	rs76651236	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:123813849_123813850insTCCGCA	ENST00000321252.2	-	1	730_731	c.696_697insTGCGGA	c.(694-699)gctgag>gctTGCGGAgag	p.232_233AE>ACGE		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTAG	0.51																																						ENST00000321252.2		NA																	1	Substitution - coding silent(1)	p.A232A(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(694-699)gctgag>gctTGCGGAgag		olfactory receptor, family 6, subfamily T, member 1																																				SO:0001652	inframe_insertion	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813849_123813850insTCCGCA	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.696_697insTGCGGA	11.37:g.123813849_123813850insTCCGCA	ENSP00000325203:p.Ala232_Glu233insCysGly	False	False		Somatic	0					p.232_233AE>ACGE	NM_001005187.1	NP_001005187.1	WXS	Illumina HiSeq	Phase_I	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	730_731	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	232					Q6IFE7	In_Frame_Ins	INS	ENST00000321252.2	37	c.696_697insTGCGGA	CCDS31700.1																																																																																				0.510	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	0	NM_001005187		11:123813849
TAS2R13	50838	broad.mit.edu	37	12	11061117	11061118	+	Frame_Shift_Ins	INS	-	-	AGATTATTGAATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11061117_11061118insAGATTATTGAATA	ENST00000390677.2	-	1	1043_1044	c.780_781insTATTCAATAATCT	c.(778-783)acagtgfs	p.V261fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ATGTAGATCACTGTGTTCTGAT	0.376																																						ENST00000390677.2		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(778-783)acagtgfs		taste receptor, type 2, member 13																																				SO:0001589	frameshift_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061117_11061118insAGATTATTGAATA	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.780_781insTATTCAATAATCT	12.37:g.11061117_11061118insAGATTATTGAATA	ENSP00000375095:p.Val261fs	False	False		Somatic	0				PRR4_ENST00000536668.1_Intron	p.V261fs	NM_023920.2	NP_076409.1	WXS	Illumina HiSeq	Phase_I	Q9NYV9	T2R13_HUMAN			1	1043_1044	-			261					Q4G0I5|Q502V8|Q645X2	Frame_Shift_Ins	INS	ENST00000390677.2	37	c.780_781insTATTCAATAATCT	CCDS8635.1																																																																																				0.376	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1	0			12:11061117
TAS2R20	259295	broad.mit.edu	37	12	11149970	11149971	+	In_Frame_Ins	INS	-	-	CGTATTACTTGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11149970_11149971insCGTATTACTTGC	ENST00000538986.1	-	1	503_504	c.504_505insGCAAGTAATACG	c.(502-507)ctgagg>ctgGCAAGTAATACGagg	p.168_169LR>LASNTR	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	168					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATTGCATTCCTCAGTTTGATCT	0.396																																						ENST00000538986.1		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(502-507)ctgagg>ctgGCAAGTAATACGagg		taste receptor, type 2, member 20																																				SO:0001652	inframe_insertion	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149970_11149971insCGTATTACTTGC	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.504_505insGCAAGTAATACG	12.37:g.11149970_11149971insCGTATTACTTGC	ENSP00000441624:p.Leu168_Arg169insAlaSerAsnThr	False	False		Somatic	0				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.168_169LR>LASNTR	NM_176889.2	NP_795370.2	WXS	Illumina HiSeq	Phase_I	P59543	T2R20_HUMAN			1	503_504	-			168					P59549|Q2HIZ4|Q496D8|Q645X9	In_Frame_Ins	INS	ENST00000538986.1	37	c.504_505insGCAAGTAATACG	CCDS8639.1																																																																																				0.396	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	0	NM_176889		12:11149970
POLR3C	10623	broad.mit.edu	37	1	145594112	145594113	+	Frame_Shift_Ins	INS	-	-	ACTAGCAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145594112_145594113insACTAGCAATT	ENST00000334163.3	-	14	1609_1610	c.1449_1450insAATTGCTAGT	c.(1447-1452)cagttafs	p.L484fs	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	484					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ATTTCTTGTAACTGTGCTTCCT	0.446																																						ENST00000334163.3		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1447-1452)cagttafs		polymerase (RNA) III (DNA directed) polypeptide C (62kD)																																				SO:0001589	frameshift_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145594112_145594113insACTAGCAATT	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1449_1450insAATTGCTAGT	1.37:g.145594112_145594113insACTAGCAATT	ENSP00000334564:p.Leu484fs	False	False		Somatic	0				POLR3C_ENST00000369294.1_Intron	p.L484fs	NM_006468.6	NP_006459.3	WXS	Illumina HiSeq	Phase_I	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		14	1609_1610	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		484					O15317|Q9Y3R6	Frame_Shift_Ins	INS	ENST00000334163.3	37	c.1449_1450insAATTGCTAGT	CCDS921.1																																																																																				0.446	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	0	NM_006468		1:145594112
XPOT	11260	broad.mit.edu	37	12	64819680	64819681	+	Frame_Shift_Ins	INS	-	-	GGGTTTTGTTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819680_64819681insGGGTTTTGTTG	ENST00000332707.5	+	15	2187_2188	c.1658_1659insGGGTTTTGTTG	c.(1657-1662)aaatctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTTGTCAAATCTCTCAAGT	0.366																																						ENST00000332707.5		NA																	0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1657-1662)aaatctfs		exportin, tRNA																																				SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64819680_64819681insGGGTTTTGTTG	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	Exception_encountered	12.37:g.64819680_64819681insGGGTTTTGTTG	ENSP00000327821:p.Ser554fs	True	False		Somatic	0					p.S554fs	NM_007235.4	NP_009166.2	WXS	Illumina HiSeq	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	15	2187_2188	+			554			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Ins	INS	ENST00000332707.5	37	c.1658_1659insGGGTTTTGTTG	CCDS31852.1																																																																																				0.366	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	0	NM_007235		12:64819680
XPOT	11260	broad.mit.edu	37	12	64819681	64819682	+	Frame_Shift_Ins	INS	-	-	TATTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819681_64819682insTATTG	ENST00000332707.5	+	15	2188_2189	c.1659_1660insTATTG	c.(1660-1662)tctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATTTGTCAAATCTCTCAAGTA	0.371																																						ENST00000332707.5		NA																	0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1660-1662)tctfs		exportin, tRNA																																				SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64819681_64819682insTATTG	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	Exception_encountered	12.37:g.64819681_64819682insTATTG	ENSP00000327821:p.Ser554fs	True	False		Somatic	0					p.S554fs	NM_007235.4	NP_009166.2	WXS	Illumina HiSeq	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	15	2188_2189	+			554			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Ins	INS	ENST00000332707.5	37	c.1659_1660insTATTG	CCDS31852.1																																																																																				0.371	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	0	NM_007235		12:64819681
PTPRB	5787	broad.mit.edu	37	12	71016261	71016262	+	Frame_Shift_Ins	INS	-	-	CA	rs200516068	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:71016261_71016262insCA	ENST00000550358.1	-	3	641_642	c.616_617insTG	c.(616-618)gagfs	p.E206fs	PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.E205fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.E206fs|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E206*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTGCCTCTCGCTGCTGTTT	0.465																																						ENST00000550358.1		NA																	1	Substitution - Nonsense(1)	p.E206*(1)	lung(1)	breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(616-618)gagfs		protein tyrosine phosphatase, receptor type, B																																				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016261_71016262insCA	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.616_617insTG	12.37:g.71016261_71016262insCA	ENSP00000448058:p.Glu206fs	False	False		Somatic	0				PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.E206fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.E205fs	p.E206fs			WXS	Illumina HiSeq	Phase_I	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	641_642	-	Renal(347;0.236)		0			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000550358.1	37	c.616_617insTG																																																																																					0.465	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1	0			12:71016261
CEP290	80184	broad.mit.edu	37	12	88443110	88443111	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:88443110_88443111insCC	ENST00000552810.1	-	54	7633_7634	c.7290_7291insGG	c.(7288-7293)aattacfs	p.Y2431fs	RNA5SP364_ENST00000516938.1_RNA|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.Y2433fs|CEP290_ENST00000547691.2_Frame_Shift_Ins_p.Y1491fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.Y1491fs|C12orf29_ENST00000356891.3_3'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2431					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCCTTGTAATTATACTTAA	0.307																																						ENST00000552810.1		NA																	0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(7288-7293)aattacfs		centrosomal protein 290kDa																																				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88443110_88443111insCC	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.7290_7291insGG	12.37:g.88443110_88443111insCC	ENSP00000448012:p.Tyr2431fs	False	False		Somatic	0				C12orf29_ENST00000356891.3_3'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.Y2433fs|CEP290_ENST00000547691.2_Frame_Shift_Ins_p.Y1491fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.Y1491fs	p.Y2431fs	NM_025114.3	NP_079390.3	WXS	Illumina HiSeq	Phase_I	O15078	CE290_HUMAN			54	7633_7634	-			2431					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.7290_7291insGG	CCDS55858.1																																																																																				0.307	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	0	NM_025114		12:88443110
ANO4	121601	broad.mit.edu	37	12	101336307	101336308	+	In_Frame_Ins	INS	-	-	GTTCAAGTGAGTAATGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101336307_101336308insGTTCAAGTGAGTAATGTT	ENST00000392977.3	+	5	660_661	c.450_451insGTTCAAGTGAGTAATGTT	c.(451-453)aaa>GTTCAAGTGAGTAATGTTaaa	p.150_151insVQVSNV	ANO4_ENST00000392979.3_In_Frame_Ins_p.115_116insVQVSNV|ANO4_ENST00000538618.1_In_Frame_Ins_p.316_317insVQVSNV|ANO4_ENST00000299222.9_De_novo_Start_OutOfFrame			Q32M45	ANO4_HUMAN	anoctamin 4	150					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCAAATGGAGAAAGAGGTAAA	0.337										HNSCC(74;0.22)																												ENST00000392979.3		NA																	0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(346-348)aaa>GTTCAAGTGAGTAATGTTaaa		anoctamin 4																																				SO:0001652	inframe_insertion	121601					chloride channel complex	chloride channel activity	g.chr12:101336307_101336308insGTTCAAGTGAGTAATGTT	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		Exception_encountered	12.37:g.101336307_101336308insGTTCAAGTGAGTAATGTT	ENSP00000376703:p.Glu150_Lys151insValGlnValSerAsnVal	True	False	HNSCC(74;0.22)	Somatic	0				ANO4_ENST00000299222.9_De_novo_Start_OutOfFrame|ANO4_ENST00000392977.3_In_Frame_Ins_p.150_151insVQVSNV|ANO4_ENST00000538618.1_In_Frame_Ins_p.316_317insVQVSNV	p.115_116insVQVSNV	NM_178826.3	NP_849148.2	WXS	Illumina HiSeq	Phase_I	Q32M45	ANO4_HUMAN			4	706_707	+			150		G -> A (in dbSNP:rs34162417).			Q8NAJ0|Q8NB39|Q8NB53	In_Frame_Ins	INS	ENST00000392977.3	37	c.345_346insGTTCAAGTGAGTAATGTT																																																																																					0.337	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	0	NM_178826		12:101336307
UTP20	27340	broad.mit.edu	37	12	101779480	101779481	+	In_Frame_Ins	INS	-	-	ATTTGAACATCAACAAAATCAACAATATGTACAACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101779480_101779481insATTTGAACATCAACAAAATCAACAATATGTACAACA	ENST00000261637.4	+	61	8350_8351	c.8176_8177insATTTGAACATCAACAAAATCAACAATATGTACAACA	c.(8176-8178)ctc>cATTTGAACATCAACAAAATCAACAATATGTACAACAtc	p.2726_2726L>HLNINKINNMYNI		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2726					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAAAGGGCACTCCGGAAAAAG	0.431																																						ENST00000261637.4		NA																	0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(8176-8178)ctc>cATTTGAACATCAACAAAATCAACAATATGTACAACAtc		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001652	inframe_insertion	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101779480_101779481insATTTGAACATCAACAAAATCAACAATATGTACAACA	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	Exception_encountered	12.37:g.101779480_101779481insATTTGAACATCAACAAAATCAACAATATGTACAACA	ENSP00000261637:p.Leu2726delinsHisLeuAsnIleAsnLysIleAsnAsnMetTyrAsnIle	False	False		Somatic	0					p.2726_2726L>HLNINKINNMYNI	NM_014503.2	NP_055318.2	WXS	Illumina HiSeq	Phase_I	O75691	UTP20_HUMAN			61	8350_8351	+			2726					Q9H3H4	In_Frame_Ins	INS	ENST00000261637.4	37	c.8176_8177insATTTGAACATCAACAAAATCAACAATATGTACAACA	CCDS9081.1																																																																																				0.431	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	0	NM_014503		12:101779480
PLA2G1B	5319	broad.mit.edu	37	12	120760117	120760118	+	In_Frame_Ins	INS	-	-	ATTCTCTGTCTATAAACTAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:120760117_120760118insATTCTCTGTCTATAAACTAGG	ENST00000308366.4	-	4	360_361	c.325_326insCCTAGTTTATAGACAGAGAAT	c.(325-327)aaa>aCCTAGTTTATAGACAGAGAATaa	p.109_109K>T*FIDRE*	PLA2G1B_ENST00000423423.3_In_Frame_Ins_p.66_66Q>HLVYRQRI|PLA2G1B_ENST00000549767.1_In_Frame_Ins_p.80_80K>T*FIDRE*	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	109					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	CTCTTTGTTTTTGCCTGGAGAG	0.49																																					NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000423423.3		NA																	0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(196-198)caa>caCCTAGTTTATAGACAGAGAATa		phospholipase A2, group IB (pancreas)																																				SO:0001652	inframe_insertion	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120760117_120760118insATTCTCTGTCTATAAACTAGG		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.325_326insCCTAGTTTATAGACAGAGAAT	12.37:g.120760117_120760118insATTCTCTGTCTATAAACTAGG	ENSP00000312286:p.Lys109delinsThr*PheIleAspArgGlu*	True	False		Somatic	0				PLA2G1B_ENST00000308366.4_In_Frame_Ins_p.109_109K>T*FIDRE*|PLA2G1B_ENST00000549767.1_In_Frame_Ins_p.80_80K>T*FIDRE*	p.66_66Q>HLVYRQRI			WXS	Illumina HiSeq	Phase_I	P04054	PA21B_HUMAN			3	222_223	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					B2R4H5|Q3KPI1	In_Frame_Ins	INS	ENST00000308366.4	37	c.197_198insCCTAGTTTATAGACAGAGAAT	CCDS9195.1																																																																																				0.490	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1	0			12:120760117
DIABLO	56616	broad.mit.edu	37	12	122709110	122709111	+	Frame_Shift_Ins	INS	-	-	GAGCAGATATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709110_122709111insGAGCAGATATA	ENST00000443649.3	-	3	948_949	c.131_132insTATATCTGCTC	c.(130-132)aaafs	p.K44fs	RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000475784.1_5'Flank|DIABLO_ENST00000464942.2_Intron|DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 4; BAB14994). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCGTCACAGTTTTGTGCCATGG	0.446																																						ENST00000443649.3		NA																	0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(130-132)aaafs		diablo, IAP-binding mitochondrial protein																																				SO:0001589	frameshift_variant	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122709110_122709111insGAGCAGATATA	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.131_132insTATATCTGCTC	12.37:g.122709110_122709111insGAGCAGATATA	ENSP00000398495:p.Lys44fs	True	False		Somatic	0				DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	p.K44fs	NM_019887.4	NP_063940.1	WXS	Illumina HiSeq	Phase_I	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	948_949	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		44	K -> R (in Ref. 2; BAB14994).				B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Frame_Shift_Ins	INS	ENST00000443649.3	37	c.131_132insTATATCTGCTC	CCDS9228.1																																																																																				0.446	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	0	NM_019887		12:122709110
DIABLO	56616	broad.mit.edu	37	12	122709112	122709113	+	Frame_Shift_Ins	INS	-	-	AATATTCTCATTTTGATTATCTCATTTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709112_122709113insAATATTCTCATTTTGATTATCTCATTTG	ENST00000443649.3	-	3	946_947	c.129_130insCAAATGAGATAATCAAAATGAGAATATT	c.(127-132)cacaaafs	p.K44fs	RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000475784.1_5'Flank|DIABLO_ENST00000464942.2_Intron|DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 4; BAB14994). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTCACAGTTTTGTGCCATGGTC	0.45																																						ENST00000443649.3		NA																	0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(127-132)cacaaafs		diablo, IAP-binding mitochondrial protein																																				SO:0001589	frameshift_variant	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122709112_122709113insAATATTCTCATTTTGATTATCTCATTTG	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.129_130insCAAATGAGATAATCAAAATGAGAATATT	12.37:g.122709112_122709113insAATATTCTCATTTTGATTATCTCATTTG	ENSP00000398495:p.Lys44fs	True	False		Somatic	0				DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	p.K44fs	NM_019887.4	NP_063940.1	WXS	Illumina HiSeq	Phase_I	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	946_947	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		44	K -> R (in Ref. 2; BAB14994).				B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Frame_Shift_Ins	INS	ENST00000443649.3	37	c.129_130insCAAATGAGATAATCAAAATGAGAATATT	CCDS9228.1																																																																																				0.450	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	0	NM_019887		12:122709112
DNAH10	196385	broad.mit.edu	37	12	124326085	124326086	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326085_124326086insGG	ENST00000409039.3	+	29	5024_5025	c.4999_5000insGG	c.(4999-5001)agafs	p.R1667fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1667	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTGAAGACAGAAGCAGGTAA	0.411																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4999-5001)agafs		dynein, axonemal, heavy chain 10																																				SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326085_124326086insGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	Exception_encountered	12.37:g.124326085_124326086insGG	ENSP00000386770:p.Arg1667fs	False	False		Somatic	1					p.R1667fs	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	5024_5025	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1667			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Ins	INS	ENST00000409039.3	37	c.4999_5000insGG	CCDS9255.2																																																																																				0.411	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124326085
DNAH10	196385	broad.mit.edu	37	12	124326087	124326088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326087_124326088insG	ENST00000409039.3	+	29	5026_5027	c.5001_5002insG	c.(5002-5004)agcfs	p.S1668fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1668	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGAAGACAGAAGCAGGTAAGG	0.406																																						ENST00000409039.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5002-5004)agcfs		dynein, axonemal, heavy chain 10																																				SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326087_124326088insG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	Exception_encountered	12.37:g.124326087_124326088insG	ENSP00000386770:p.Ser1668fs	False	False		Somatic	0					p.S1668fs	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	5026_5027	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1668			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Ins	INS	ENST00000409039.3	37	c.5001_5002insG	CCDS9255.2																																																																																				0.406	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124326087
TMEM132B	114795	broad.mit.edu	37	12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:126138392_126138393insTCACTG	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTG	c.(2374-2376)agt>TCACTGagt	p.792_792S>SLS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLS	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	792						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTCGAACCAAGTAGTGATGA	0.426																																						ENST00000299308.3		NA																	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2374-2376)agt>TCACTGagt		transmembrane protein 132B																																				SO:0001652	inframe_insertion	114795					integral to membrane		g.chr12:126138392_126138393insTCACTG	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		Exception_encountered	12.37:g.126138392_126138393insTCACTG	Exception_encountered	False	False		Somatic	0				TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLS	p.792_792S>SLS	NM_052907.2	NP_443139.2	WXS	Illumina HiSeq	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2381_2382	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		792					A2RRG8|Q8NA73|Q96JN9|Q96PY1	In_Frame_Ins	INS	ENST00000299308.3	37	c.2373_2374insTCACTG	CCDS41859.1																																																																																				0.426	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	0	NM_052907		12:126138392
NUP210L	91181	broad.mit.edu	37	1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000368553.1_5'Flank|NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGAAGTATTTATTTTGGAATG	0.386																																						ENST00000368559.3		NA																	0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa		nucleoporin 210kDa-like																																				SO:0001652	inframe_insertion	91181					integral to membrane		g.chr1:154030623_154030624insCAGATTTTCTCC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3048_3049insGGAGAAAATCTG	1.37:g.154030623_154030624insCAGATTTTCTCC	ENSP00000357547:p.Asn1016_Lys1017insGlyGluAsnLeu	True	False		Somatic	0				NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	WXS	Illumina HiSeq	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		22	3119_3120	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1016					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Ins	INS	ENST00000368559.3	37	c.3048_3049insGGAGAAAATCTG	CCDS41399.1																																																																																				0.386	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	NM_207308		1:154030623
SLC50A1	55974	broad.mit.edu	37	1	155110513	155110514	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155110513_155110514insTG	ENST00000368404.4	+	5	565_566	c.503_504insTG	c.(502-507)acccttfs	p.L169fs	SLC50A1_ENST00000368401.5_Frame_Shift_Ins_p.L114fs|SLC50A1_ENST00000484157.1_Frame_Shift_Ins_p.L104fs|SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.L115fs|SLC50A1_ENST00000368405.3_3'UTR	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	169	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCATTGCTACCCTTCTCACCT	0.51																																						ENST00000368404.4		NA																	0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(502-507)acccttfs		solute carrier family 50 (sugar efflux transporter), member 1																																				SO:0001589	frameshift_variant	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110513_155110514insTG	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	Exception_encountered	1.37:g.155110513_155110514insTG	ENSP00000357389:p.Leu169fs	True	False		Somatic	0				SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.L115fs|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Frame_Shift_Ins_p.L104fs|SLC50A1_ENST00000368401.5_Frame_Shift_Ins_p.L114fs	p.L169fs	NM_018845.3	NP_061333.2	WXS	Illumina HiSeq	Phase_I	Q9BRV3	SWET1_HUMAN			5	565_566	+			169			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Frame_Shift_Ins	INS	ENST00000368404.4	37	c.503_504insTG	CCDS1093.1																																																																																				0.510	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	0	NM_018845		1:155110513
GON4L	54856	broad.mit.edu	37	1	155736113	155736114	+	In_Frame_Ins	INS	-	-	TATCCACCA	rs149688057		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155736113_155736114insTATCCACCA	ENST00000368331.1	-	21	3198_3199	c.3150_3151insTGGTGGATA	c.(3148-3153)cagaca>cagTGGTGGATAaca	p.1050_1051QT>QWWIT	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000271883.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000361040.5_In_Frame_Ins_p.1050_1051QT>QWWIT	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1050					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGGAACTGTCTGTAAAACAG	0.574																																						ENST00000437809.1		NA																	0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3148-3153)cagaca>cagTGGTGGATAaca		gon-4-like (C. elegans)																																				SO:0001652	inframe_insertion	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155736113_155736114insTATCCACCA	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3150_3151insTGGTGGATA	1.37:g.155736113_155736114insTATCCACCA	ENSP00000357315:p.Gln1050_Thr1051insTrpTrpIle	True	False		Somatic	0				GON4L_ENST00000361040.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000271883.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_In_Frame_Ins_p.1050_1051QT>QWWIT	p.1050_1051QT>QWWIT			WXS	Illumina HiSeq	Phase_I	Q3T8J9	GON4L_HUMAN			21	3272_3273	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1050					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	In_Frame_Ins	INS	ENST00000368331.1	37	c.3150_3151insTGGTGGATA																																																																																					0.574	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_032292		1:155736113
CBLN3	643866	broad.mit.edu	37	14	24897077	24897078	+	Frame_Shift_Ins	INS	-	-	GCAGAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:24897077_24897078insGCAGAGG	ENST00000267406.6	-	3	1005_1006	c.535_536insCCTCTGC	c.(535-537)gtgfs	p.V179fs	CBLN3_ENST00000555436.1_Frame_Shift_Ins_p.V128fs|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	179	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GCGCAGAGACACTCGGTCCCCA	0.574																																						ENST00000555436.1		NA																	0				central_nervous_system(1)|lung(3)	4						c.(382-384)gtgfs		cerebellin 3 precursor																																				SO:0001589	frameshift_variant	643866					cell junction|extracellular region|synapse		g.chr14:24897077_24897078insGCAGAGG	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.535_536insCCTCTGC	14.37:g.24897077_24897078insGCAGAGG	ENSP00000267406:p.Val179fs	False	False		Somatic	0				CBLN3_ENST00000267406.6_Frame_Shift_Ins_p.V179fs	p.V128fs			WXS	Illumina HiSeq	Phase_I	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	450_451	-			179			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Frame_Shift_Ins	INS	ENST00000267406.6	37	c.382_383insCCTCTGC	CCDS32057.1																																																																																				0.574	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	0	XM_115232		14:24897077
BAZ1A	11177	broad.mit.edu	37	14	35331471	35331472	+	Frame_Shift_Ins	INS	-	-	ATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:35331471_35331472insATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	ENST00000382422.2	-	2	497_498	c.170_171insATATGCAAAGATATCATCACAAATTTCATGTAAGCGCGAACGAT	c.(169-171)acgfs	p.-57fs	BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000553853.1_De_novo_Start_OutOfFrame			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A						chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.T57T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGGTCTACCCGTCACAGCACA	0.386																																						ENST00000553853.1		NA																	1	Substitution - coding silent(1)	p.T57T(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48								bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331471_35331472insATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.170_171insATATGCAAAGATATCATCACAAATTTCATGTAAGCGCGAACGAT	14.37:g.35331471_35331472insATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	ENSP00000371859:p.Thr57fs	True	False		Somatic	0				BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.-57fs				WXS	Illumina HiSeq	Phase_I	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	0	45_46	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		NA					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Translation_Start_Site	INS	ENST00000382422.2	37		CCDS9651.1																																																																																				0.386	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1	0			14:35331471
POLE2	5427	broad.mit.edu	37	14	50117144	50117145	+	Frame_Shift_Ins	INS	-	-	ACCCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117144_50117145insACCCT	ENST00000216367.5	-	17	1434_1435	c.1335_1336insAGGGT	c.(1333-1338)atcttafs	p.L446fs	POLE2_ENST00000539565.2_Frame_Shift_Ins_p.L420fs|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Frame_Shift_Ins_p.L446fs	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	446					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CCTTGGGATAAGATAGTCTTTA	0.356																																						ENST00000539565.2		NA																	1	Substitution - Missense(1)	p.I445M(1)	lung(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1255-1260)atcttafs		polymerase (DNA directed), epsilon 2, accessory subunit																																				SO:0001589	frameshift_variant	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117144_50117145insACCCT	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1335_1336insAGGGT	14.37:g.50117144_50117145insACCCT	ENSP00000216367:p.Leu446fs	False	False		Somatic	0				POLE2_ENST00000554396.1_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000216367.5_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000556584.1_5'UTR	p.L420fs	NM_001197330.1	NP_001184259.1	WXS	Illumina HiSeq	Phase_I	P56282	DPOE2_HUMAN			16	1475_1476	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		446					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Frame_Shift_Ins	INS	ENST00000216367.5	37	c.1257_1258insAGGGT	CCDS32073.1																																																																																				0.356	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	0	NM_002692		14:50117144
POLE2	5427	broad.mit.edu	37	14	50117145	50117146	+	In_Frame_Ins	INS	-	-	TAAGAATGTAGTTAATCTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117145_50117146insTAAGAATGTAGTTAATCTTAT	ENST00000216367.5	-	17	1433_1434	c.1334_1335insATAAGATTAACTACATTCTTA	c.(1333-1335)atc>atATAAGATTAACTACATTCTTAc	p.445_446ins*D*LHSY	POLE2_ENST00000539565.2_In_Frame_Ins_p.419_420ins*D*LHSY|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_In_Frame_Ins_p.445_446ins*D*LHSY	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTGGGATAAGATAGTCTTTAC	0.356																																						ENST00000539565.2		NA																	1	Substitution - Missense(1)	p.I445M(1)	lung(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1255-1257)atc>atATAAGATTAACTACATTCTTAc		polymerase (DNA directed), epsilon 2, accessory subunit																																				SO:0001652	inframe_insertion	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117145_50117146insTAAGAATGTAGTTAATCTTAT	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1334_1335insATAAGATTAACTACATTCTTA	14.37:g.50117145_50117146insTAAGAATGTAGTTAATCTTAT	ENSP00000216367:p.Ile445_Leu446ins*Asp*LeuHisSerTyr	False	False		Somatic	0				POLE2_ENST00000554396.1_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000216367.5_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000556584.1_5'UTR	p.419_420ins*D*LHSY	NM_001197330.1	NP_001184259.1	WXS	Illumina HiSeq	Phase_I	P56282	DPOE2_HUMAN			16	1474_1475	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		445					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	In_Frame_Ins	INS	ENST00000216367.5	37	c.1256_1257insATAAGATTAACTACATTCTTA	CCDS32073.1																																																																																				0.356	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	0	NM_002692		14:50117145
SMEK1	55671	broad.mit.edu	37	14	91927948	91927949	+	Frame_Shift_Ins	INS	-	-	CCCAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:91927948_91927949insCCCAA	ENST00000554943.1	-	14	2282_2283	c.2167_2168insTTGGG	c.(2167-2169)aaafs	p.K723fs	SMEK1_ENST00000555462.1_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000337238.4_Frame_Shift_Ins_p.K710fs|SMEK1_ENST00000554684.1_Frame_Shift_Ins_p.K710fs|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Frame_Shift_Ins_p.K484fs			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	723					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTCACTTTCTTTTACTAAAAAT	0.396																																						ENST00000554684.1		NA																	0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(2128-2130)aaafs		SMEK homolog 1, suppressor of mek1 (Dictyostelium)																																				SO:0001589	frameshift_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91927948_91927949insCCCAA	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2167_2168insTTGGG	14.37:g.91927948_91927949insCCCAA	ENSP00000450883:p.Lys723fs	True	False		Somatic	0				SMEK1_ENST00000554943.1_Frame_Shift_Ins_p.K723fs|SMEK1_ENST00000428424.2_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000337238.4_Frame_Shift_Ins_p.K710fs|SMEK1_ENST00000555462.1_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000555718.1_5'UTR	p.K710fs			WXS	Illumina HiSeq	Phase_I	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	14	2624_2625	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	723					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Ins	INS	ENST00000554943.1	37	c.2128_2129insTTGGG																																																																																					0.396	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	0	NM_032560		14:91927948
RTL1	388015	broad.mit.edu	37	14	101348366	101348367	+	In_Frame_Ins	INS	-	-	CACTTCAACTTT	rs577019146|rs187380673		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:101348366_101348367insCACTTCAACTTT	ENST00000534062.1	-	1	2817_2818	c.2759_2760insAAAGTTGAAGTG	c.(2758-2760)gcg>gcAAAGTTGAAGTGg	p.920_921insKLKW	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	920					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTTCATCTCCGCTTGAGAGTA	0.55																																						ENST00000534062.1		NA																	0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(2758-2760)gcg>gcAAAGTTGAAGTGg		retrotransposon-like 1																																				SO:0001652	inframe_insertion	388015							g.chr14:101348366_101348367insCACTTCAACTTT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2759_2760insAAAGTTGAAGTG	14.37:g.101348366_101348367insCACTTCAACTTT	ENSP00000435342:p.Ala920_Glu921insLysLeuLysTrp	False	False		Somatic	0					p.920_921insKLKW	NM_001134888.2	NP_001128360.1	WXS	Illumina HiSeq	Phase_I	E9PKS8	E9PKS8_HUMAN			1	2817_2818	-			920					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.2759_2760insAAAGTTGAAGTG	CCDS53910.1																																																																																				0.550	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	0	NM_001134888		14:101348366
ISG20L2	81875	broad.mit.edu	37	1	156697115	156697116	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697115_156697116insGT	ENST00000313146.6	-	1	1111_1112	c.329_330insAC	c.(328-330)gatfs	p.D110fs	RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.D110fs|RRNAD1_ENST00000368218.4_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCAACAGAATCAGCCTTTTT	0.515											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313146.6		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(328-330)gatfs		interferon stimulated exonuclease gene 20kDa-like 2																																				SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697115_156697116insGT	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.329_330insAC	1.37:g.156697115_156697116insGT	ENSP00000323424:p.Asp110fs	False	False		Somatic	0	OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1780	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.D110fs	p.D110fs	NM_030980.1	NP_112242.1	WXS	Illumina HiSeq	Phase_I	Q9H9L3	I20L2_HUMAN			1	1111_1112	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		110					D3DVC6|Q64KA2	Frame_Shift_Ins	INS	ENST00000313146.6	37	c.329_330insAC	CCDS1153.1																																																																																				0.515	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	0	NM_030980		1:156697115
ISG20L2	81875	broad.mit.edu	37	1	156697117	156697118	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697117_156697118delCA	ENST00000313146.6	-	1	1109_1110	c.327_328delTG	c.(325-330)gctgatfs	p.D110fs	RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.D110fs|RRNAD1_ENST00000368218.4_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAACAGAATCAGCCTTTTTTG	0.515											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313146.6		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(325-330)gctgatfs		interferon stimulated exonuclease gene 20kDa-like 2																																				SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697117_156697118delCA	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.327_328delTG	1.37:g.156697117_156697118delCA	ENSP00000323424:p.Asp110fs	False	False		Somatic	1	OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1780	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.D110fs	p.D110fs	NM_030980.1	NP_112242.1	WXS	Illumina HiSeq	Phase_I	Q9H9L3	I20L2_HUMAN			1	1109_1110	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		110					D3DVC6|Q64KA2	Frame_Shift_Del	DEL	ENST00000313146.6	37	c.327_328delTG	CCDS1153.1																																																																																				0.515	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	0	NM_030980		1:156697117
SPTA1	6708	broad.mit.edu	37	1	158589107	158589108	+	Frame_Shift_Ins	INS	-	-	CATAGGGATGAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158589107_158589108insCATAGGGATGAAAT	ENST00000368147.4	-	45	6614_6615	c.6434_6435insATTTCATCCCTATG	c.(6433-6435)ctgfs	p.-2145fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCTTTTGCAGCTCCTGCTC	0.465																																						ENST00000368148.3		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6433-6435)ctgfs		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)																																				SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158589107_158589108insCATAGGGATGAAAT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6434_6435insATTTCATCCCTATG	1.37:g.158589107_158589108insCATAGGGATGAAAT	ENSP00000357129:p.Leu2145fs	False	False		Somatic	0				SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.-2142fs	p.-2145fs	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			45	6614_6615	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Ins	INS	ENST00000368147.4	37	c.6434_6435insATTTCATCCCTATG	CCDS41423.1																																																																																				0.465	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158589107
WDR76	79968	broad.mit.edu	37	15	44158578	44158579	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158578_44158579insGT	ENST00000263795.6	+	13	1939_1940	c.1869_1870insGT	c.(1870-1872)aaafs	p.K624fs	WDR76_ENST00000381246.2_Frame_Shift_Ins_p.K560fs|Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	624										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TTATGAATGAAAAAAGCTGCTG	0.406																																						ENST00000381246.2		NA																	0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1678-1680)aaafs		WD repeat domain 76																																				SO:0001589	frameshift_variant	79968							g.chr15:44158578_44158579insGT	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	Exception_encountered	15.37:g.44158578_44158579insGT	ENSP00000263795:p.Lys624fs	True	False		Somatic	0				WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.K624fs	p.K560fs			WXS	Illumina HiSeq	Phase_I	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	13	1948_1949	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	624					A0MNP5|Q05CI4	Frame_Shift_Ins	INS	ENST00000263795.6	37	c.1677_1678insGT	CCDS10106.1																																																																																				0.406	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	0	NM_024908		15:44158578
WDR76	79968	broad.mit.edu	37	15	44158580	44158581	+	Frame_Shift_Ins	INS	-	-	GGTTAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158580_44158581insGGTTAAAT	ENST00000263795.6	+	13	1941_1942	c.1871_1872insGGTTAAAT	c.(1870-1875)aaaagcfs	p.S625fs	WDR76_ENST00000381246.2_Frame_Shift_Ins_p.S561fs|Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	625										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ATGAATGAAAAAAGCTGCTGAG	0.411																																						ENST00000381246.2		NA																	0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1678-1683)aaaagcfs		WD repeat domain 76																																				SO:0001589	frameshift_variant	79968							g.chr15:44158580_44158581insGGTTAAAT	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	Exception_encountered	15.37:g.44158580_44158581insGGTTAAAT	ENSP00000263795:p.Ser625fs	True	False		Somatic	0				WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.S625fs	p.S561fs			WXS	Illumina HiSeq	Phase_I	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	13	1950_1951	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	625					A0MNP5|Q05CI4	Frame_Shift_Ins	INS	ENST00000263795.6	37	c.1679_1680insGGTTAAAT	CCDS10106.1																																																																																				0.411	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	0	NM_024908		15:44158580
MYEF2	50804	broad.mit.edu	37	15	48435246	48435247	+	Frame_Shift_Ins	INS	-	-	TTAAAGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:48435246_48435247insTTAAAGTA	ENST00000324324.7	-	17	1940_1941	c.1661_1662insTACTTTAA	c.(1660-1662)atafs	p.-554fs	MYEF2_ENST00000267836.6_Frame_Shift_Ins_p.-530fs	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2						myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTCCATTTTTATTTCTGCAAA	0.327																																						ENST00000324324.7		NA																	0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1660-1662)atafs		myelin expression factor 2																																				SO:0001589	frameshift_variant	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48435246_48435247insTTAAAGTA	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1661_1662insTACTTTAA	15.37:g.48435246_48435247insTTAAAGTA	ENSP00000316950:p.Ile554fs	True	False		Somatic	0				MYEF2_ENST00000267836.6_Frame_Shift_Ins_p.-530fs	p.-554fs	NM_016132.3	NP_057216.2	WXS	Illumina HiSeq	Phase_I	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	17	1940_1941	-		all_lung(180;0.00217)	NA					A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Frame_Shift_Ins	INS	ENST00000324324.7	37	c.1661_1662insTACTTTAA	CCDS32230.1																																																																																				0.327	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	0	NM_016132		15:48435246
MAPK6	5597	broad.mit.edu	37	15	52357100	52357101	+	Frame_Shift_Ins	INS	-	-	CACAAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:52357100_52357101insCACAAAC	ENST00000261845.5	+	6	2876_2877	c.2069_2070insCACAAAC	c.(2068-2073)cttaagfs	p.K691fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	691					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GGGTCACCACTTAAGTCAATAC	0.436																																						ENST00000261845.5		NA																	0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(2068-2073)cttaagfs		mitogen-activated protein kinase 6																																				SO:0001589	frameshift_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52357100_52357101insCACAAAC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	Exception_encountered	15.37:g.52357100_52357101insCACAAAC	ENSP00000261845:p.Lys691fs	False	False		Somatic	0				CTD-2184D3.5_ENST00000558607.1_RNA	p.K691fs	NM_002748.3	NP_002739.1	WXS	Illumina HiSeq	Phase_I	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2876_2877	+			691					B2R945|B5BU65|Q68DH4|Q8IYN8	Frame_Shift_Ins	INS	ENST00000261845.5	37	c.2069_2070insCACAAAC	CCDS10147.1																																																																																				0.436	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	0	NM_002748		15:52357100
LACTB	114294	broad.mit.edu	37	15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:63419711_63419712insATTCAATT	ENST00000261893.4	+	4	847_848	c.775_776insATTCAATT	c.(775-777)aagfs	p.K259fs	LACTB_ENST00000413507.2_Frame_Shift_Ins_p.K259fs|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	259						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2		NA																	0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(775-777)aagfs		lactamase, beta																																				SO:0001589	frameshift_variant	114294					mitochondrion	hydrolase activity	g.chr15:63419711_63419712insATTCAATT	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	Exception_encountered	15.37:g.63419711_63419712insATTCAATT	ENSP00000261893:p.Lys259fs	True	False		Somatic	0				RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs	p.K259fs	NM_171846.2	NP_741982.1	WXS	Illumina HiSeq	Phase_I	P83111	LACTB_HUMAN			4	814_815	+			259					P83096	Frame_Shift_Ins	INS	ENST00000261893.4	37	c.775_776insATTCAATT	CCDS10182.1																																																																																				0.332	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	0	NM_032857		15:63419711
DNAJA4	55466	broad.mit.edu	37	15	78567999	78568000	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:78567999_78568000insTT	ENST00000394852.3	+	5	996_997	c.806_807insTT	c.(805-810)gaagctfs	p.EA269fs	DNAJA4_ENST00000343789.3_Frame_Shift_Ins_p.EA269fs|DNAJA4_ENST00000394855.3_Frame_Shift_Ins_p.EA298fs|DNAJA4_ENST00000446172.2_Frame_Shift_Ins_p.EA242fs	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	269					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGCTTTCTGAAGCTCTTTGTG	0.381																																						ENST00000446172.2		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(724-729)gaagctfs		DnaJ (Hsp40) homolog, subfamily A, member 4																																				SO:0001589	frameshift_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78567999_78568000insTT	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	Exception_encountered	15.37:g.78567999_78568000insTT	ENSP00000378321:p.Glu269fs	False	False		Somatic	0				DNAJA4_ENST00000343789.3_Frame_Shift_Ins_p.EA269fs|DNAJA4_ENST00000394855.3_Frame_Shift_Ins_p.EA298fs|DNAJA4_ENST00000394852.3_Frame_Shift_Ins_p.EA269fs	p.EA242fs	NM_001130183.1	NP_001123655.1	WXS	Illumina HiSeq	Phase_I	Q8WW22	DNJA4_HUMAN			5	787_788	+			269					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Frame_Shift_Ins	INS	ENST00000394852.3	37	c.725_726insTT	CCDS45316.1																																																																																				0.381	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	0	NM_018602		15:78567999
MORF4L1	10933	broad.mit.edu	37	15	79179691	79179692	+	Splice_Site	INS	-	-	AATGTCAACATAAAATGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:79179691_79179692insAATGTCAACATAAAATGA	ENST00000331268.5	+	6	644	c.440_440insAATGTCAACATAAAATGA	c.(439-441)gtg>gAATGTCAACATAAAATGAtg	p.147_147V>ECQHKMM	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558502.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000379535.4_Splice_Site_p.133_133V>ECQHKMM|MORF4L1_ENST00000426013.2_Splice_Site_p.108_108V>ECQHKMM	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	147	Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AATGTTGAAGTGTAAGAAGCTC	0.376																																						ENST00000379535.4		NA																	0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(397-399)gtg>gAATGTCAACATAAAATGAtg		mortality factor 4 like 1																																				SO:0001630	splice_region_variant	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79179691_79179692insAATGTCAACATAAAATGA	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.440+1->AATGTCAACATAAAATGA	15.37:g.79179691_79179692insAATGTCAACATAAAATGA		False	False		Somatic	0				MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000426013.2_Splice_Site_p.108_108V>ECQHKMM|MORF4L1_ENST00000559345.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000331268.5_Splice_Site_p.147_147V>ECQHKMM	p.133_133V>ECQHKMM			WXS	Illumina HiSeq	Phase_I	Q9UBU8	MO4L1_HUMAN			6	962	+			147			Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Splice_Site	INS	ENST00000331268.5	37	c.398_398insAATGTCAACATAAAATGA	CCDS10307.1																																																																																				0.376	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	0	NM_006791	In_Frame_Ins	15:79179691
MCTP2	55784	broad.mit.edu	37	15	94913410	94913411	+	Splice_Site	INS	-	-	AAATCTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:94913410_94913411insAAATCTT	ENST00000357742.4	+	11	1582		c.e11+1		MCTP2_ENST00000331706.4_Splice_Site|MCTP2_ENST00000557742.1_Splice_Site|MCTP2_ENST00000451018.3_Splice_Site	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATTTCTCAGGTACAGGACATT	0.376																																						ENST00000357742.4		NA																	0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.e11+1		multiple C2 domains, transmembrane 2																																				SO:0001630	splice_region_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94913410_94913411insAAATCTT	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1582+1->AAATCTT	15.37:g.94913410_94913411insAAATCTT		False	False		Somatic	0				MCTP2_ENST00000451018.3_Splice_Site|MCTP2_ENST00000331706.4_Splice_Site|MCTP2_ENST00000557742.1_Splice_Site		NM_018349.3	NP_060819.3	WXS	Illumina HiSeq	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		11	1582	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		NA					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Splice_Site	INS	ENST00000357742.4	37		CCDS32338.1																																																																																				0.376	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	0	NM_018349	Intron	15:94913410
NUF2	83540	broad.mit.edu	37	1	163309268	163309269	+	Splice_Site	INS	-	-	AGATGAAGAAATTGTCTACTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:163309268_163309269insAGATGAAGAAATTGTCTACTTT	ENST00000271452.3	+	8	885		c.e8+1		NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAAAAAACGGTATCTGTTGTG	0.371																																						ENST00000271452.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e8+1		NUF2, NDC80 kinetochore complex component																																				SO:0001630	splice_region_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163309268_163309269insAGATGAAGAAATTGTCTACTTT	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.606+1->AGATGAAGAAATTGTCTACTTT	1.37:g.163309268_163309269insAGATGAAGAAATTGTCTACTTT		False	False		Somatic	0				NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site		NM_145697.2	NP_663735.2	WXS	Illumina HiSeq	Phase_I	Q9BZD4	NUF2_HUMAN			8	885	+	all_hematologic(923;0.101)		NA					Q8WU69|Q96HJ4|Q96Q78	Splice_Site	INS	ENST00000271452.3	37		CCDS1245.1																																																																																				0.371	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	0	NM_145697	Intron	1:163309268
FMO3	2328	broad.mit.edu	37	1	171080113	171080114	+	In_Frame_Ins	INS	-	-	TTAGTGACCATTTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:171080113_171080114insTTAGTGACCATTTGT	ENST00000367755.4	+	6	913_914	c.802_803insTTAGTGACCATTTGT	c.(802-804)aac>aTTAGTGACCATTTGTac	p.268_268N>ISDHLY	FMO3_ENST00000538429.1_In_Frame_Ins_p.205_205N>ISDHLY|FMO3_ENST00000392085.2_In_Frame_Ins_p.268_268N>ISDHLY|FMO3_ENST00000542847.1_In_Frame_Ins_p.248_248N>ISDHLY	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	268					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CAAGCATGAAAACTATGGCTTG	0.441																																						ENST00000367755.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(802-804)aac>aTTAGTGACCATTTGTac		flavin containing monooxygenase 3																																				SO:0001652	inframe_insertion	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080113_171080114insTTAGTGACCATTTGT	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	Exception_encountered	1.37:g.171080113_171080114insTTAGTGACCATTTGT	ENSP00000356729:p.Asn268delinsIleSerAspHisLeuTyr	True	False		Somatic	0				FMO3_ENST00000538429.1_In_Frame_Ins_p.205_205N>ISDHLY|FMO3_ENST00000392085.2_In_Frame_Ins_p.268_268N>ISDHLY|FMO3_ENST00000542847.1_In_Frame_Ins_p.248_248N>ISDHLY	p.268_268N>ISDHLY	NM_001002294.2	NP_001002294.1	WXS	Illumina HiSeq	Phase_I	P31513	FMO3_HUMAN			6	913_914	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		268					B2R816|Q14854|Q8N5N5	In_Frame_Ins	INS	ENST00000367755.4	37	c.802_803insTTAGTGACCATTTGT	CCDS1292.1																																																																																				0.441	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	0	NM_006894		1:171080113
RRN3P2	653390	broad.mit.edu	37	16	29105707	29105708	+	RNA	INS	-	-	GAAAAAGAATAAAAGGATTTAAAAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:29105707_29105708insGAAAAAGAATAAAAGGATTTAAAAAAT	ENST00000564580.1	+	0	843							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		AAAGGGTGGAAACAGCTAGTGC	0.356																																						ENST00000564580.1		NA																	0					NA																																														0							g.chr16:29105707_29105708insGAAAAAGAATAAAAGGATTTAAAAAAT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29105707_29105708insGAAAAAGAATAAAAGGATTTAAAAAAT		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	843	+			NA						RNA	INS	ENST00000564580.1	37																																																																																						0.356	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29105707
NCOR1	9611	broad.mit.edu	37	17	15989694	15989695	+	Frame_Shift_Ins	INS	-	-	TGTAATAAATAATAATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:15989694_15989695insTGTAATAAATAATAATC	ENST00000268712.3	-	23	3335_3336	c.3078_3079insGATTATTATTTATTACA	c.(3076-3081)acaactfs	p.T1027fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1043fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1027	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTGGTCGAGTTGTCGGAAGCC	0.465																																						ENST00000268712.3		NA																	0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3076-3081)acaactfs		nuclear receptor corepressor 1																																				SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989694_15989695insTGTAATAAATAATAATC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3078_3079insGATTATTATTTATTACA	17.37:g.15989694_15989695insTGTAATAAATAATAATC	ENSP00000268712:p.Thr1027fs	False	False		Somatic	0				NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1043fs	p.T1027fs	NM_006311.3	NP_006302.2	WXS	Illumina HiSeq	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3335_3336	-			1027			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	c.3078_3079insGATTATTATTTATTACA	CCDS11175.1																																																																																				0.465	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	NM_006311		17:15989694
AXDND1	126859	broad.mit.edu	37	1	179414303	179414304	+	Frame_Shift_Ins	INS	-	-	TCTTTTTTCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:179414303_179414304insTCTTTTTTCTC	ENST00000367618.3	+	16	2149_2150	c.1762_1763insTCTTTTTTCTC	c.(1762-1764)tacfs	p.Y588fs	AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	588										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACAAAAACTCTACAAAGAATAT	0.312																																						ENST00000367618.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1762-1764)tacfs		axonemal dynein light chain domain containing 1																																				SO:0001589	frameshift_variant	126859							g.chr1:179414303_179414304insTCTTTTTTCTC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	Exception_encountered	1.37:g.179414303_179414304insTCTTTTTTCTC	ENSP00000356590:p.Tyr588fs	False	False		Somatic	0				AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs|AXDND1_ENST00000461179.2_3'UTR	p.Y588fs	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			16	2149_2150	+			588					Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Ins	INS	ENST00000367618.3	37	c.1762_1763insTCTTTTTTCTC	CCDS30948.1																																																																																				0.312	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179414303
TROVE2	6738	broad.mit.edu	37	1	193045721	193045722	+	Frame_Shift_Ins	INS	-	-	TTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:193045721_193045722insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	ENST00000367446.3	+	4	1102_1103	c.892_893insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	c.(892-894)aatfs	p.N298fs	TROVE2_ENST00000432079.1_Frame_Shift_Ins_p.N23fs|TROVE2_ENST00000367444.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000400968.2_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000416058.2_Frame_Shift_Ins_p.N23fs|TROVE2_ENST00000367445.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367441.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367443.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000460715.2_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	298	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGAACCAGGAAATTCAGAAGTA	0.322																																						ENST00000367445.3		NA																	0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(892-894)aatfs		TROVE domain family, member 2																																				SO:0001589	frameshift_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045721_193045722insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	Exception_encountered	1.37:g.193045721_193045722insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	ENSP00000356416:p.Asn298fs	True	False		Somatic	0				TROVE2_ENST00000367441.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367444.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000416058.2_Frame_Shift_Ins_p.N23fs|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367443.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000400968.2_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000432079.1_Frame_Shift_Ins_p.N23fs	p.N298fs	NM_001042370.2	NP_001035829.2	WXS	Illumina HiSeq	Phase_I	P10155	RO60_HUMAN			4	1079_1080	+			298			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Frame_Shift_Ins	INS	ENST00000367446.3	37	c.892_893insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	CCDS1379.1																																																																																				0.322	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	0	NM_004600		1:193045721
ASPM	259266	broad.mit.edu	37	1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs|ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3814-3816)ctcfs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3815_3816insAAATTTATCTTAATAATGC	1.37:g.197091099_197091100insGCATTATTAAGATAAATTT	ENSP00000356379:p.Leu1272fs	False	False		Somatic	0				ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	p.-1272fs	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			16	4071_4072	-			NA					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	c.3815_3816insAAATTTATCTTAATAATGC	CCDS1389.1																																																																																				0.322	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197091099
SUZ12	23512	broad.mit.edu	37	17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1764)gatfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322748_30322749insAAATAAATGTT	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322748_30322749insAAATAAATGTT	ENSP00000316578:p.Asp588fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	p.D588fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1990_1991	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	588			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1761_1762insAAATAAATGTT	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322748
SUZ12	23512	broad.mit.edu	37	17	30322750	30322751	+	Frame_Shift_Ins	INS	-	-	TTTATGGCCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322750_30322751insTTTATGGCCTC	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTC	c.(1762-1767)gatcctfs	p.P589fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	589	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GATGAAAAGGATCCTGAATGGC	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1767)gatcctfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322750_30322751insTTTATGGCCTC	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322750_30322751insTTTATGGCCTC	ENSP00000316578:p.Pro589fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	p.P589fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1992_1993	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	589			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1763_1764insTTTATGGCCTC	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322750
TAF15	8148	broad.mit.edu	37	17	34171571	34171572	+	Frame_Shift_Ins	INS	-	-	ATAAGCACGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:34171571_34171572insATAAGCACGA	ENST00000588240.1	+	15	1383_1384	c.1268_1269insATAAGCACGA	c.(1267-1272)agtgggfs	p.SG423fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.SG420fs|TAF15_ENST00000592237.1_Splice_Site	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggagacagaagtgggggtggct	0.619			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1		NA		Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1267-1272)agtgggfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa																																				SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171571_34171572insATAAGCACGA	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		Exception_encountered	17.37:g.34171571_34171572insATAAGCACGA	ENSP00000466950:p.Ser423fs	True	False		Somatic	0				TAF15_ENST00000311979.3_Frame_Shift_Ins_p.SG420fs|TAF15_ENST00000592237.1_Splice_Site	p.SG423fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	WXS	Illumina HiSeq	Phase_I	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1383_1384	+		Ovarian(249;0.17)	423			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Ins	INS	ENST00000588240.1	37	c.1268_1269insATAAGCACGA	CCDS32623.1																																																																																				0.619	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	0	NM_139215		17:34171571
USP32	84669	broad.mit.edu	37	17	58282903	58282904	+	In_Frame_Ins	INS	-	-	TTCTTTTCTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:58282903_58282904insTTCTTTTCTTTA	ENST00000300896.4	-	26	3347_3348	c.3153_3154insTAAAGAAAAGAA	c.(3151-3156)actgag>actTAAAGAAAAGAAgag	p.1051_1052TE>T*RKEE	USP32_ENST00000592339.1_In_Frame_Ins_p.721_722TE>T*RKEE	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1051	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGTTCTTCTCAGTTCCACATG	0.446																																						ENST00000300896.4		NA																	0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3151-3156)actgag>actTAAAGAAAAGAAgag		ubiquitin specific peptidase 32																																				SO:0001652	inframe_insertion	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58282903_58282904insTTCTTTTCTTTA	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3153_3154insTAAAGAAAAGAA	17.37:g.58282903_58282904insTTCTTTTCTTTA	ENSP00000300896:p.Thr1051_Glu1052ins*ArgLysGlu	False	False		Somatic	0				USP32_ENST00000592339.1_In_Frame_Ins_p.721_722TE>T*RKEE	p.1051_1052TE>T*RKEE	NM_032582.3	NP_115971.2	WXS	Illumina HiSeq	Phase_I	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		26	3347_3348	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1051					Q7Z5T3|Q9BX85|Q9Y591	In_Frame_Ins	INS	ENST00000300896.4	37	c.3153_3154insTAAAGAAAAGAA	CCDS32697.1																																																																																				0.446	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	0	NM_032582		17:58282903
BPTF	2186	broad.mit.edu	37	17	65908306	65908306	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:65908306delG	ENST00000321892.4	+	13	4745	c.4684delG	c.(4684-4686)gttfs	p.V1562fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.V1436fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1562					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGGTAATGTTGAACCAAA	0.274																																						ENST00000306378.6		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4306-4308)gttfs		bromodomain PHD finger transcription factor							38.0	45.0	43.0					17																	65908306		2165	4275	6440	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908306delG	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4684delG	17.37:g.65908306delG	ENSP00000315454:p.Val1562fs	False	False		Somatic	1				BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs|BPTF_ENST00000321892.4_Frame_Shift_Del_p.V1562fs	p.V1436fs	NM_182641.3	NP_872579.2	WXS	Illumina HiSeq	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	4366	+	all_cancers(12;6e-11)		1562					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.4306delG																																																																																					0.274	BPTF-201	KNOWN	basic	protein_coding	protein_coding		0	NM_182641, NM_004459		17:65908306
KLHL14	57565	broad.mit.edu	37	18	30260502	30260503	+	Frame_Shift_Ins	INS	-	-	AAGCACTCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:30260502_30260503insAAGCACTCTC	ENST00000359358.4	-	6	1736_1737	c.1298_1299insGAGAGTGCTT	c.(1297-1299)aatfs	p.N433fs		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	433						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCCAGTTTCATTCCTTCCACC	0.475																																						ENST00000359358.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1297-1299)aatfs		kelch-like family member 14																																				SO:0001589	frameshift_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260502_30260503insAAGCACTCTC	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1298_1299insGAGAGTGCTT	18.37:g.30260502_30260503insAAGCACTCTC	ENSP00000352314:p.Asn433fs	True	False		Somatic	0					p.N433fs	NM_020805.1	NP_065856.1	WXS	Illumina HiSeq	Phase_I	Q9P2G3	KLH14_HUMAN			6	1736_1737	-			433					A6NNW1|B4DHA0|Q8WU41	Frame_Shift_Ins	INS	ENST00000359358.4	37	c.1298_1299insGAGAGTGCTT	CCDS32813.1																																																																																				0.475	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1	0			18:30260502
NR5A2	2494	broad.mit.edu	37	1	200080441	200080442	+	Frame_Shift_Ins	INS	-	-	AAGCACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:200080441_200080442insAAGCACA	ENST00000367362.3	+	6	1468_1469	c.1222_1223insAAGCACA	c.(1222-1224)gggfs	p.G408fs	NR5A2_ENST00000236914.3_Frame_Shift_Ins_p.G362fs|NR5A2_ENST00000544748.1_Frame_Shift_Ins_p.G336fs	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	408					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTGGTTACTGGGCAACAAGTG	0.416																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1222-1224)gggfs		nuclear receptor subfamily 5, group A, member 2																																				SO:0001589	frameshift_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200080441_200080442insAAGCACA	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	Exception_encountered	1.37:g.200080441_200080442insAAGCACA	ENSP00000356331:p.Gly408fs	True	False		Somatic	0				NR5A2_ENST00000236914.3_Frame_Shift_Ins_p.G362fs|NR5A2_ENST00000544748.1_Frame_Shift_Ins_p.G336fs	p.G408fs	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	WXS	Illumina HiSeq	Phase_I	O00482	NR5A2_HUMAN			6	1468_1469	+	Prostate(682;0.19)		408					B4E2P3|O95642|Q147U3	Frame_Shift_Ins	INS	ENST00000367362.3	37	c.1222_1223insAAGCACA	CCDS1401.1																																																																																				0.416	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2	0			1:200080441
MUC16	94025	broad.mit.edu	37	19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046560_9046561insTT	ENST00000397910.4	-	5	35273_35274	c.35070_35071insAA	c.(35068-35073)tgggtcfs	p.V11691fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11693	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						GGATGAGTGACCCAGGAAGCCA	0.525																																						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.(35068-35073)tgggtcfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046560_9046561insTT	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.35070_35071insAA	19.37:g.9046560_9046561insTT	ENSP00000381008:p.Val11691fs	True	False		Somatic	0					p.V11691fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			5	35273_35274	-			11693			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.35070_35071insAA	CCDS54212.1																																																																																				0.525	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9046560
MUC16	94025	broad.mit.edu	37	19	9046561	9046562	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046561_9046562insA	ENST00000397910.4	-	5	35272_35273	c.35069_35070insT	c.(35068-35070)tggfs	p.W11690fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11692	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						GATGAGTGACCCAGGAAGCCAT	0.525																																						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.(35068-35070)tggfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046561_9046562insA	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.35069_35070insT	19.37:g.9046561_9046562insA	ENSP00000381008:p.Trp11690fs	True	False		Somatic	0					p.W11690fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			5	35272_35273	-			11692			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.35069_35070insT	CCDS54212.1																																																																																				0.525	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9046561
ZNF627	199692	broad.mit.edu	37	19	11727707	11727708	+	Frame_Shift_Ins	INS	-	-	GAAGTACATTATTAATGTTTTGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:11727707_11727708insGAAGTACATTATTAATGTTTTGTTT	ENST00000361113.5	+	4	597_598	c.389_390insGAAGTACATTATTAATGTTTTGTTT	c.(388-393)gaatatfs	p.Y131fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GAACCAAATGAATATCAGGAAT	0.45																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(388-393)gaatatfs		zinc finger protein 627																																				SO:0001589	frameshift_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727707_11727708insGAAGTACATTATTAATGTTTTGTTT	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		Exception_encountered	19.37:g.11727707_11727708insGAAGTACATTATTAATGTTTTGTTT	ENSP00000354414:p.Tyr131fs	False	False		Somatic	0				ZNF627_ENST00000588174.1_3'UTR	p.Y131fs	NM_145295.3	NP_660338.1	WXS	Illumina HiSeq	Phase_I	Q7L945	ZN627_HUMAN			4	597_598	+			131					O14846|Q4KMP9|Q6NT81|Q9BRG4	Frame_Shift_Ins	INS	ENST00000361113.5	37	c.389_390insGAAGTACATTATTAATGTTTTGTTT	CCDS42502.1																																																																																				0.450	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	0	NM_145295		19:11727707
ZNF430	80264	broad.mit.edu	37	19	21239653	21239654	+	Frame_Shift_Ins	INS	-	-	CTTCTTGGAAAGAATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:21239653_21239654insCTTCTTGGAAAGAATCT	ENST00000261560.5	+	5	720_721	c.539_540insCTTCTTGGAAAGAATCT	c.(538-543)gataaafs	p.K181fs	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	181					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTCAATATGATAAATATGTGA	0.302																																						ENST00000261560.5		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(538-543)gataaafs		zinc finger protein 430																																				SO:0001589	frameshift_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239653_21239654insCTTCTTGGAAAGAATCT	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		Exception_encountered	19.37:g.21239653_21239654insCTTCTTGGAAAGAATCT	ENSP00000261560:p.Lys181fs	True	False		Somatic	0					p.K181fs	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	WXS	Illumina HiSeq	Phase_I	Q9H8G1	ZN430_HUMAN			5	720_721	+			181					Q86V70	Frame_Shift_Ins	INS	ENST00000261560.5	37	c.539_540insCTTCTTGGAAAGAATCT	CCDS32978.1																																																																																				0.302	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	0	NM_025189		19:21239653
ARHGAP35	2909	broad.mit.edu	37	19	47422093	47422094	+	In_Frame_Ins	INS	-	-	GACAGCTTCCTACATTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:47422093_47422094insGACAGCTTCCTACATTAT	ENST00000404338.3	+	1	161_162	c.161_162insGACAGCTTCCTACATTAT	c.(160-165)catacc>caGACAGCTTCCTACATTATtacc	p.54_54H>QTASYII		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	54					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CACTTGGACCATACCTCCGTCC	0.54																																						ENST00000404338.3		NA																	0					NA						c.(160-165)catacc>caGACAGCTTCCTACATTATtacc		Rho GTPase activating protein 35																																				SO:0001652	inframe_insertion	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422093_47422094insGACAGCTTCCTACATTAT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		Exception_encountered	19.37:g.47422093_47422094insGACAGCTTCCTACATTAT	ENSP00000385720:p.His54delinsGlnThrAlaSerTyrIleIle	False	False		Somatic	0					p.54_54H>QTASYII	NM_004491.4	NP_004482.4	WXS	Illumina HiSeq	Phase_I	Q9NRY4	RHG35_HUMAN			1	161_162	+			54					A7E2A4|Q14452|Q9C0E1	In_Frame_Ins	INS	ENST00000404338.3	37	c.161_162insGACAGCTTCCTACATTAT	CCDS46127.1																																																																																				0.540	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	0	NM_004491		19:47422093
ASH1L	55870	broad.mit.edu	37	1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447927_155447928insGACACT	ENST00000368346.3	-	3	5372_5373	c.4733_4734insAGTGTC	c.(4732-4734)gac>gaAGTGTCc	p.1578_1578D>EVS	ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCTGAACAGTCAATCTGTAA	0.455																																						ENST00000368346.3		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4732-4734)gac>gaAGTGTCc		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001652	inframe_insertion	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447927_155447928insGACACT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4733_4734insAGTGTC	1.37:g.155447927_155447928insGACACT	ENSP00000357330:p.Asp1578delinsGluValSer	False	False		Somatic	0				ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS	p.1578_1578D>EVS			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5372_5373	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1578					Q59GP1|Q5T714|Q5T715|Q9P2C7	In_Frame_Ins	INS	ENST00000368346.3	37	c.4733_4734insAGTGTC																																																																																					0.455	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155447927
ASH1L	55870	broad.mit.edu	37	1	155447929	155447930	+	Frame_Shift_Ins	INS	-	-	ACTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447929_155447930insACTA	ENST00000368346.3	-	3	5370_5371	c.4731_4732insTAGT	c.(4729-4734)attgacfs	p.D1578fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.D1578fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTGAACAGTCAATCTGTAAAG	0.455																																						ENST00000368346.3		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4729-4734)attgacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447929_155447930insACTA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4731_4732insTAGT	1.37:g.155447929_155447930insACTA	ENSP00000357330:p.Asp1578fs	False	False		Somatic	0				ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.D1578fs	p.D1578fs			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5370_5371	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1578					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.4731_4732insTAGT																																																																																					0.455	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155447929
NLRP7	199713	broad.mit.edu	37	19	55449575	55449576	+	Frame_Shift_Ins	INS	-	-	AA	rs188306421		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55449575_55449576insAA	ENST00000590030.1	-	4	2005_2006	c.1965_1966insTT	c.(1963-1968)cggcagfs	p.Q656fs	NLRP7_ENST00000588756.1_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.Q684fs|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.Q656fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	656							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGAAGATCCTGCCGAGCCCAGT	0.5																																						ENST00000588756.1		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1963-1968)cggcagfs		NLR family, pyrin domain containing 7																																				SO:0001589	frameshift_variant	199713						ATP binding	g.chr19:55449575_55449576insAA	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1965_1966insTT	19.37:g.55449575_55449576insAA	ENSP00000465520:p.Gln656fs	False	False		Somatic	0				NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.Q684fs|NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.Q656fs	p.Q656fs			WXS	Illumina HiSeq	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2451_2452	-			656					E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Ins	INS	ENST00000590030.1	37	c.1965_1966insTT	CCDS33109.1																																																																																				0.500	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	NM_139176		19:55449575
PROKR2	128674	broad.mit.edu	37	20	5295012	5295013	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:5295012_5295013insGG	ENST00000217270.3	-	1	2_3	c.3_4insCC	c.(1-6)atggcafs	p.A2fs	PROKR2_ENST00000546004.1_Frame_Shift_Ins_p.A2fs	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	2					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTCTGGGCTGCCATGGTGATGT	0.53										HNSCC(71;0.22)																												ENST00000217270.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1-6)atggcafs		prokineticin receptor 2																																				SO:0001589	frameshift_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5295012_5295013insGG	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.3_4insCC	20.37:g.5295012_5295013insGG	ENSP00000217270:p.Ala2fs	False	False	HNSCC(71;0.22)	Somatic	0				PROKR2_ENST00000546004.1_Frame_Shift_Ins_p.A2fs	p.A2fs	NM_144773.2	NP_658986.1	WXS	Illumina HiSeq	Phase_I	Q8NFJ6	PKR2_HUMAN			1	2_3	-			2					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Frame_Shift_Ins	INS	ENST00000217270.3	37	c.3_4insCC	CCDS13089.1																																																																																				0.530	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	0	NM_144773		20:5295012
SNX5	27131	broad.mit.edu	37	20	17951012	17951020	+	5'Flank	DEL	AAGTAATTA	AAGTAATTA	-	rs200441428		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	AAGTAATTA	AAGTAATTA	-	-	AAGTAATTA	AAGTAATTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:17951012_17951020delAAGTAATTA	ENST00000377768.3	-	0	0				MGME1_ENST00000377710.5_Splice_Site_p.170_171SS>S|SNX5_ENST00000377759.4_5'Flank|MGME1_ENST00000377704.4_Splice_Site_p.170_171SS>S|MGME1_ENST00000377709.1_Intron|SNX5_ENST00000481323.1_5'Flank|SNX5_ENST00000486039.1_5'Flank|MGME1_ENST00000467391.1_3'UTR|SNX5_ENST00000606557.1_5'Flank|SNX5_ENST00000606602.1_5'Flank	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AATACACTTCAAGTAATTATCTCAATTCT	0.359																																						ENST00000377710.5		NA																	0					NA						c.(508-513)tcaagt>tcgt		mitochondrial genome maintenance exonuclease 1																																				SO:0001631	upstream_gene_variant	92667							g.chr20:17951012_17951020delAAGTAATTA	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17951012_17951020delAAGTAATTA	Exception_encountered	False	False		Somatic	1				MGME1_ENST00000377709.1_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Splice_Site_p.170_171SS>S	p.170_171SS>S	NM_052865.2	NP_443097.1	WXS	Illumina HiSeq	Phase_I					2	798_799	+			NA					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Splice_Site	DEL	ENST00000377768.3	37	c.510_511delAAGTAATTA	CCDS13130.1																																																																																				0.359	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4	0			20:17951012
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007556_20007557insA	ENST00000334982.4	+	4	579_580	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-300)tcafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007556_20007557insA	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007556_20007557insA	ENSP00000335636:p.Ser100fs	True	False		Somatic	0				NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	p.S100fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	385_386	+			100			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.298_299insA	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007556
NAA20	51126	broad.mit.edu	37	20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007557_20007558insACATAAATAT	ENST00000334982.4	+	4	580_581	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-303)tcagaafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007557_20007558insACATAAATAT	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007557_20007558insACATAAATAT	ENSP00000335636:p.Glu101fs	False	False		Somatic	0				NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	p.E101fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	386_387	+			101			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.299_300insACATAAATAT	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007557
DHX35	60625	broad.mit.edu	37	20	37632518	37632519	+	In_Frame_Ins	INS	-	-	AAAATAAAAGTTGGGATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:37632518_37632519insAAAATAAAAGTTGGGATC	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGTTGGGATC	c.(979-981)gtg>gAAAATAAAAGTTGGGATCtg	p.327_327V>ENKSWDL	DHX35_ENST00000373325.2_In_Frame_Ins_p.327_327V>ENKSWDL|DHX35_ENST00000373323.4_In_Frame_Ins_p.296_296V>ENKSWDL	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCAAATGAAAGTGTTTGAAAGG	0.495																																						ENST00000252011.3		NA																	0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(979-981)gtg>gAAAATAAAAGTTGGGATCtg		DEAH (Asp-Glu-Ala-His) box polypeptide 35																																				SO:0001652	inframe_insertion	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37632518_37632519insAAAATAAAAGTTGGGATC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	Exception_encountered	20.37:g.37632518_37632519insAAAATAAAAGTTGGGATC	ENSP00000252011:p.Val327delinsGluAsnLysSerTrpAspLeu	False	False		Somatic	0				DHX35_ENST00000373325.2_In_Frame_Ins_p.327_327V>ENKSWDL|DHX35_ENST00000373323.4_In_Frame_Ins_p.296_296V>ENKSWDL	p.327_327V>ENKSWDL	NM_021931.3	NP_068750.2	WXS	Illumina HiSeq	Phase_I	Q9H5Z1	DHX35_HUMAN			11	1012_1013	+		Myeloproliferative disorder(115;0.00878)	327			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	In_Frame_Ins	INS	ENST00000252011.3	37	c.979_980insAAAATAAAAGTTGGGATC	CCDS13310.1																																																																																				0.495	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	0	NM_021931		20:37632518
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	In_Frame_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAG	ENST00000357552.3	-	35	3626_3627	c.3401_3402insCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)aca>acCTTCAGATATATCTGATAAAGAGAa	p.1134_1135insFRYI**RE	SYCP2_ENST00000371001.2_In_Frame_Ins_p.1134_1135insFRYI**RE			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1134					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302																																						ENST00000357552.3		NA																	0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3400-3402)aca>acCTTCAGATATATCTGATAAAGAGAa		synaptonemal complex protein 2																																				SO:0001652	inframe_insertion	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAG	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3401_3402insCTTCAGATATATCTGATAAAGAGA	20.37:g.58449064_58449065insTCTCTTTATCAGATATATCTGAAG	ENSP00000350162:p.Thr1134_Lys1135insPheArgTyrIle**ArgGlu	True	False		Somatic	0				SYCP2_ENST00000371001.2_In_Frame_Ins_p.1134_1135insFRYI**RE	p.1134_1135insFRYI**RE			WXS	Illumina HiSeq	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3626_3627	-	all_lung(29;0.00344)		1134					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	In_Frame_Ins	INS	ENST00000357552.3	37	c.3401_3402insCTTCAGATATATCTGATAAAGAGA	CCDS13482.1																																																																																				0.302	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	NM_014258		20:58449064
KCNE1	3753	broad.mit.edu	37	21	35821678	35821679	+	Frame_Shift_Ins	INS	-	-	ACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:35821678_35821679insACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	ENST00000337385.3	-	3	629_630	c.254_255insCAATAAAGAGTATGAGAGGAATGTGATTAGAAAATCAGGT	c.(253-255)gatfs	p.-85fs	KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.-85fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1						cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55																																						ENST00000337385.3		NA																	0				large_intestine(4)|lung(1)|ovary(2)	7						c.(253-255)gatfs		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)																																			SO:0001589	frameshift_variant	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821678_35821679insACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.254_255insCAATAAAGAGTATGAGAGGAATGTGATTAGAAAATCAGGT	21.37:g.35821678_35821679insACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	ENSP00000337255:p.Asp85fs	False	False		Somatic	0				KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.-85fs	p.-85fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	WXS	Illumina HiSeq	Phase_I	P15382	KCNE1_HUMAN			3	629_630	-			NA					A5H1P2|Q8N709|Q91Z94	Frame_Shift_Ins	INS	ENST00000337385.3	37	c.254_255insCAATAAAGAGTATGAGAGGAATGTGATTAGAAAATCAGGT	CCDS13636.1																																																																																				0.550	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1	0			21:35821678
MORC3	23515	broad.mit.edu	37	21	37741983	37741984	+	Frame_Shift_Ins	INS	-	-	TCTTGTA	rs374162238		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:37741983_37741984insTCTTGTA	ENST00000400485.1	+	15	2393_2394	c.2317_2318insTCTTGTA	c.(2317-2319)tatfs	p.Y773fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	773					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGTATCTCAGTATCAGCAAGCT	0.371																																						ENST00000400485.1		NA																	0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2317-2319)tatfs		MORC family CW-type zinc finger 3																																				SO:0001589	frameshift_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741983_37741984insTCTTGTA	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	Exception_encountered	21.37:g.37741983_37741984insTCTTGTA	ENSP00000383333:p.Tyr773fs	False	False		Somatic	0				MORC3_ENST00000487909.1_3'UTR	p.Y773fs	NM_015358.2	NP_056173.1	WXS	Illumina HiSeq	Phase_I	Q14149	MORC3_HUMAN			15	2393_2394	+			773					A8KA92|Q9UEZ2	Frame_Shift_Ins	INS	ENST00000400485.1	37	c.2317_2318insTCTTGTA	CCDS42924.1																																																																																				0.371	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	0	NM_015358		21:37741983
SPECC1L	23384	broad.mit.edu	37	22	24726375	24726376	+	In_Frame_Ins	INS	-	-	GAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:24726375_24726376insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	ENST00000314328.9	+	8	2657_2658	c.2372_2373insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	c.(2371-2376)gaattg>gaGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTTattg	p.791_792EL>ESNQDLFKSNKICLL	SPECC1L_ENST00000437398.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|SPECC1L_ENST00000541492.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|SPECC1L-ADORA2A_ENST00000358654.2_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	791					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCACAAAAGAATTGGAGGAAA	0.376																																						ENST00000314328.9		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2371-2376)gaattg>gaGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTTattg		sperm antigen with calponin homology and coiled-coil domains 1-like																																				SO:0001652	inframe_insertion	23384				cell cycle|cell division			g.chr22:24726375_24726376insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	Exception_encountered	22.37:g.24726375_24726376insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	ENSP00000325785:p.Glu791_Leu792insSerAsnGlnAspLeuPheLysSerAsnLysIleCysLeu	False	False		Somatic	0				SPECC1L_ENST00000437398.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|SPECC1L_ENST00000541492.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|KB-1896H10.1_ENST00000358654.2_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL	p.791_792EL>ESNQDLFKSNKICLL	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	WXS	Illumina HiSeq	Phase_I	Q69YQ0	CYTSA_HUMAN			8	2657_2658	+			791					B7Z758|F5H1H6|O15081	In_Frame_Ins	INS	ENST00000314328.9	37	c.2372_2373insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	CCDS33619.1																																																																																				0.376	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	0	NM_015330		22:24726375
EWSR1	2130	broad.mit.edu	37	22	29693898	29693899	+	Frame_Shift_Ins	INS	-	-	TGTAATCTTCTCTAAGATCTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:29693898_29693899insTGTAATCTTCTCTAAGATCTTTA	ENST00000397938.2	+	13	1695_1696	c.1376_1377insTGTAATCTTCTCTAAGATCTTTA	c.(1375-1380)ccacccfs	p.P460fs	EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.P387fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.P422fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.P404fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.P465fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.P459fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	460	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGTCTGCCACCCCGTGAGG	0.49			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2		NA		Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1375-1380)ccacccfs		EWS RNA-binding protein 1																																				SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29693898_29693899insTGTAATCTTCTCTAAGATCTTTA		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	Exception_encountered	22.37:g.29693898_29693899insTGTAATCTTCTCTAAGATCTTTA	ENSP00000381031:p.Pro460fs	True	False		Somatic	0				EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.P387fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.P404fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.P422fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.P465fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.P459fs	p.P460fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	WXS	Illumina HiSeq	Phase_I	Q01844	EWS_HUMAN			13	1695_1696	+			460			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Ins	INS	ENST00000397938.2	37	c.1376_1377insTGTAATCTTCTCTAAGATCTTTA	CCDS13851.1																																																																																				0.490	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	0	NM_005243		22:29693898
RRP7A	27341	broad.mit.edu	37	22	42905033	42905037	+	IGR	DEL	GGCAG	GGCAG	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GGCAG	GGCAG	-	-	GGCAG	GGCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:42905033_42905037delGGCAG	ENST00000323013.6	-	0	3801				SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TGTCTCTGCAGGCAGAGAACAGCAT	0.561																																						ENST00000359906.2		NA																	0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like																																				SO:0001628	intergenic_variant	94009							g.chr22:42905033_42905037delGGCAG	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891		22.37:g.42905033_42905037delGGCAG		True	False		Somatic	1						NR_027786.1		WXS	Illumina HiSeq	Phase_I					0	614_618	+			NA					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	RNA	DEL	ENST00000323013.6	37		CCDS14036.1																																																																																				0.561	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	0	NM_015703		22:42905033
ZFX	7543	broad.mit.edu	37	X	24229460	24229461	+	Frame_Shift_Ins	INS	-	-	AATGGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:24229460_24229461insAATGGAAG	ENST00000379177.1	+	11	2812_2813	c.2385_2386insAATGGAAG	c.(2386-2388)atgfs	p.M796fs	ZFX_ENST00000338565.3_Frame_Shift_Ins_p.M746fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.M835fs|ZFX_ENST00000379188.3_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.M567fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	796					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACCAGCACATAATGCGACATCA	0.411																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1		NA																	0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2386-2388)atgfs		zinc finger protein, X-linked																																				SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229460_24229461insAATGGAAG		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	Exception_encountered	X.37:g.24229460_24229461insAATGGAAG	ENSP00000368475:p.Met796fs	False	False		Somatic	0				ZFX_ENST00000379188.3_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.M567fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.M835fs|ZFX_ENST00000338565.3_Frame_Shift_Ins_p.M746fs	p.M796fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina HiSeq	Phase_I	P17010	ZFX_HUMAN			11	2812_2813	+			796					B9EG97|O43668|Q8WYJ8	Frame_Shift_Ins	INS	ENST00000379177.1	37	c.2385_2386insAATGGAAG	CCDS14211.1																																																																																				0.411	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	0	NM_003410		X:24229460
HUWE1	10075	broad.mit.edu	37	X	53592200	53592201	+	Splice_Site	INS	-	-	AT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:53592200_53592201insAT	ENST00000342160.3	-	49	7165	c.6708_6708insAT	c.(6706-6708)agt>agATt	p.S2236fs	HUWE1_ENST00000262854.6_Splice_Site_p.S2236fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2236					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATGTTGGGACTGAGATAAGG	0.436																																						ENST00000342160.3		NA																	0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6706-6708)agt>agATt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53592200_53592201insAT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6708-1->AT	X.37:g.53592200_53592201insAT		False	False		Somatic	0				HUWE1_ENST00000262854.6_Splice_Site_p.S2236fs	p.S2236fs			WXS	Illumina HiSeq	Phase_I	Q7Z6Z7	HUWE1_HUMAN			49	7165	-			2236					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	INS	ENST00000342160.3	37	c.6708_6708insAT	CCDS35301.1																																																																																				0.436	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	0	XM_497119	Frame_Shift_Ins	X:53592200
OGT	8473	broad.mit.edu	37	X	70793607	70793608	+	In_Frame_Ins	INS	-	-	AACTCTACGCTATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793607_70793608insAACTCTACGCTATCT	ENST00000373719.3	+	22	3321_3322	c.3104_3105insAACTCTACGCTATCT	c.(3103-3108)cacatg>caAACTCTACGCTATCTcatg	p.1035_1035H>QTLRYL	OGT_ENST00000373701.3_In_Frame_Ins_p.1025_1025H>QTLRYL	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1035					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAACCTGACCACATGATTAAGC	0.455																																						ENST00000373719.3		NA																	0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3103-3108)cacatg>caAACTCTACGCTATCTcatg		O-linked N-acetylglucosamine (GlcNAc) transferase																																				SO:0001652	inframe_insertion	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70793607_70793608insAACTCTACGCTATCT	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	Exception_encountered	X.37:g.70793607_70793608insAACTCTACGCTATCT	ENSP00000362824:p.His1035delinsGlnThrLeuArgTyrLeu	False	False		Somatic	0				OGT_ENST00000373701.3_In_Frame_Ins_p.1025_1025H>QTLRYL	p.1035_1035H>QTLRYL	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina HiSeq	Phase_I	O15294	OGT1_HUMAN			22	3321_3322	+	Renal(35;0.156)		1035					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	In_Frame_Ins	INS	ENST00000373719.3	37	c.3104_3105insAACTCTACGCTATCT	CCDS14414.1																																																																																				0.455	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	0	NM_003605, NM_181672		X:70793607
OGT	8473	broad.mit.edu	37	X	70793609	70793610	+	Frame_Shift_Ins	INS	-	-	TTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793609_70793610insTTTC	ENST00000373719.3	+	22	3323_3324	c.3106_3107insTTTC	c.(3106-3108)atgfs	p.M1036fs	OGT_ENST00000373701.3_Frame_Shift_Ins_p.M1026fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1036					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACCTGACCACATGATTAAGCCT	0.46																																						ENST00000373719.3		NA																	0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3106-3108)atgfs		O-linked N-acetylglucosamine (GlcNAc) transferase																																				SO:0001589	frameshift_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70793609_70793610insTTTC	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	Exception_encountered	X.37:g.70793609_70793610insTTTC	ENSP00000362824:p.Met1036fs	False	False		Somatic	0				OGT_ENST00000373701.3_Frame_Shift_Ins_p.M1026fs	p.M1036fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina HiSeq	Phase_I	O15294	OGT1_HUMAN			22	3323_3324	+	Renal(35;0.156)		1036					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Frame_Shift_Ins	INS	ENST00000373719.3	37	c.3106_3107insTTTC	CCDS14414.1																																																																																				0.460	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	0	NM_003605, NM_181672		X:70793609
ATRX	546	broad.mit.edu	37	X	76938995	76938996	+	In_Frame_Ins	INS	-	-	AGATGAAGAATGTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:76938995_76938996insAGATGAAGAATGTAA	ENST00000373344.5	-	9	1966_1967	c.1752_1753insTTACATTCTTCATCT	c.(1750-1755)aaagaa>aaaTTACATTCTTCATCTgaa	p.584_585KE>KLHSSSE	ATRX_ENST00000395603.3_In_Frame_Ins_p.546_547KE>KLHSSSE|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	584					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.E585K(1)|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						ACATATAATTCTTTTGTTACTT	0.327			"""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"""		2	Substitution - Missense(1)|Unknown(1)	p.E585K(1)|p.?(1)	large_intestine(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.(1750-1755)aaagaa>aaaTTACATTCTTCATCTgaa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001652	inframe_insertion	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:76938995_76938996insAGATGAAGAATGTAA	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.1752_1753insTTACATTCTTCATCT	X.37:g.76938995_76938996insAGATGAAGAATGTAA	ENSP00000362441:p.Lys584_Glu585insLeuHisSerSerSer	True	False		Somatic	0				ATRX_ENST00000395603.3_In_Frame_Ins_p.546_547KE>KLHSSSE|ATRX_ENST00000480283.1_5'UTR	p.584_585KE>KLHSSSE	NM_000489.3	NP_000480.2	WXS	Illumina HiSeq	Phase_I	P46100	ATRX_HUMAN			9	1966_1967	-			584					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Ins	INS	ENST00000373344.5	37	c.1752_1753insTTACATTCTTCATCT	CCDS14434.1																																																																																				0.327	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	0	NM_000489		X:76938995
COL4A6	1288	broad.mit.edu	37	X	107402967	107402968	+	Frame_Shift_Ins	INS	-	-	CATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:107402967_107402968insCATC	ENST00000372216.4	-	44	4639_4640	c.4539_4540insGATG	c.(4537-4542)ggctccfs	p.S1514fs	COL4A6_ENST00000418180.1_Frame_Shift_Ins_p.S48fs|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.S1514fs|COL4A6_ENST00000545689.1_Frame_Shift_Ins_p.S1489fs|COL4A6_ENST00000334504.7_Frame_Shift_Ins_p.S1513fs|COL4A6_ENST00000538570.1_Frame_Shift_Ins_p.S1456fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1514	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCAGACAGGAGCCAGCAAAGC	0.554									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4534-4539)ggctccfs		collagen, type IV, alpha 6																																				SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402967_107402968insCATC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4539_4540insGATG	X.37:g.107402967_107402968insCATC	ENSP00000361290:p.Ser1514fs	False	False		Somatic	0				COL4A6_ENST00000418180.1_Frame_Shift_Ins_p.S48fs|COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.S1514fs|COL4A6_ENST00000545689.1_Frame_Shift_Ins_p.S1489fs|COL4A6_ENST00000538570.1_Frame_Shift_Ins_p.S1456fs|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.S1514fs	p.S1513fs	NM_033641.2	NP_378667.1	WXS	Illumina HiSeq	Phase_I	Q14031	CO4A6_HUMAN			44	4769_4770	-			1514			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Ins	INS	ENST00000372216.4	37	c.4536_4537insGATG	CCDS14541.1																																																																																				0.554	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2	0			X:107402967
TRPC5	7224	broad.mit.edu	37	X	111090643	111090644	+	Frame_Shift_Ins	INS	-	-	TTTATCTACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:111090643_111090644insTTTATCTACTG	ENST00000262839.2	-	6	2316_2317	c.1398_1399insCAGTAGATAAA	c.(1396-1401)agggagfs	p.E467fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	467					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCATTCCTCCCTTGGACGAG	0.431																																						ENST00000262839.2		NA																	0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1396-1401)agggagfs		transient receptor potential cation channel, subfamily C, member 5																																				SO:0001589	frameshift_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090643_111090644insTTTATCTACTG	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1398_1399insCAGTAGATAAA	X.37:g.111090643_111090644insTTTATCTACTG	ENSP00000262839:p.Glu467fs	True	False		Somatic	0					p.E467fs	NM_012471.2	NP_036603.1	WXS	Illumina HiSeq	Phase_I	Q9UL62	TRPC5_HUMAN			6	2316_2317	-			467					B2RP53|O75233|Q5JXY8|Q9Y514	Frame_Shift_Ins	INS	ENST00000262839.2	37	c.1398_1399insCAGTAGATAAA	CCDS14561.1																																																																																				0.431	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	0	NM_012471		X:111090643
FMR1NB	158521	broad.mit.edu	37	X	147084820	147084821	+	Frame_Shift_Ins	INS	-	-	TAAATTAATTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:147084820_147084821insTAAATTAATTATA	ENST00000370467.3	+	2	451_452	c.377_378insTAAATTAATTATA	c.(376-381)ctgaatfs	p.N127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTTTGCTGAATTTTTTCT	0.381																																						ENST00000370467.3		NA																	0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(376-381)ctgaatfs		fragile X mental retardation 1 neighbor																																				SO:0001589	frameshift_variant	158521					integral to membrane		g.chrX:147084820_147084821insTAAATTAATTATA		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	Exception_encountered	X.37:g.147084820_147084821insTAAATTAATTATA	ENSP00000359498:p.Asn127fs	False	False		Somatic	0					p.N127fs	NM_152578.2	NP_689791.1	WXS	Illumina HiSeq	Phase_I	Q8N0W7	FMR1N_HUMAN			2	451_452	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Frame_Shift_Ins	INS	ENST00000370467.3	37	c.377_378insTAAATTAATTATA	CCDS14683.1																																																																																				0.381	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	0	NM_152578		X:147084820
KIDINS220	57498	broad.mit.edu	37	2	8888131	8888132	+	Splice_Site	INS	-	-	CTAGTAAGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:8888131_8888132insCTAGTAAGTA	ENST00000256707.3	-	25	3596		c.e25-1		KIDINS220_ENST00000473731.1_Splice_Site|KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000427284.1_Splice_Site	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa						activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAAGAATGGCTATGGAAAAAC	0.386																																						ENST00000256707.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.e25-1		kinase D-interacting substrate, 220kDa																																				SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8888131_8888132insCTAGTAAGTA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3415-1->TACTTACTAG	2.37:g.8888131_8888132insCTAGTAAGTA		False	False		Somatic	0				KIDINS220_ENST00000473731.1_Splice_Site|KIDINS220_ENST00000427284.1_Splice_Site|KIDINS220_ENST00000418530.1_Intron		NM_020738.2	NP_065789.1	WXS	Illumina HiSeq	Phase_I	Q9ULH0	KDIS_HUMAN			25	3596	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		NA					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	INS	ENST00000256707.3	37		CCDS42650.1																																																																																				0.386	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	0	NM_020738	Intron	2:8888131
TTC7A	57217	broad.mit.edu	37	2	47221577	47221578	+	In_Frame_Ins	INS	-	-	TGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:47221577_47221578insTGG	ENST00000319190.5	+	7	1293_1294	c.925_926insTGG	c.(925-927)cct>cTGGct	p.309_309P>LA	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_In_Frame_Ins_p.275_275P>LA|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_In_Frame_Ins_p.309_309P>LA	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	309					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACCCTCTGCCTGAGTTCATG	0.614																																						ENST00000319190.5		NA																	0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(925-927)cct>cTGGct		tetratricopeptide repeat domain 7A																																				SO:0001652	inframe_insertion	57217						binding	g.chr2:47221577_47221578insTGG	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	Exception_encountered	2.37:g.47221577_47221578insTGG	ENSP00000316699:p.Pro309delinsLeuAla	False	False		Somatic	0				TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_In_Frame_Ins_p.275_275P>LA|TTC7A_ENST00000394850.2_In_Frame_Ins_p.309_309P>LA|TTC7A_ENST00000263737.6_Intron	p.309_309P>LA	NM_020458.2	NP_065191.2	WXS	Illumina HiSeq	Phase_I	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1293_1294	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	309					Q6PIX4|Q8ND67|Q9BUS3	In_Frame_Ins	INS	ENST00000319190.5	37	c.925_926insTGG	CCDS33193.1																																																																																				0.614	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	0	XM_372927		2:47221577
GPR75	10936	broad.mit.edu	37	2	54081026	54081027	+	In_Frame_Ins	INS	-	-	ATATTTTTCAAGTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:54081026_54081027insATATTTTTCAAGTCA	ENST00000394705.2	-	2	1137_1138	c.867_868insTGACTTGAAAAATAT	c.(865-870)accaag>accTGACTTGAAAAATATaag	p.289_290TK>T*LEKYK	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	289					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGGGACTCTTGGTATATCCAC	0.554																																						ENST00000394705.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(865-870)accaag>accTGACTTGAAAAATATaag		G protein-coupled receptor 75																																				SO:0001652	inframe_insertion	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081026_54081027insATATTTTTCAAGTCA	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.867_868insTGACTTGAAAAATAT	2.37:g.54081026_54081027insATATTTTTCAAGTCA	ENSP00000378195:p.Thr289_Lys290ins*LeuGluLysTyr	False	False		Somatic	0				GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	p.289_290TK>T*LEKYK	NM_006794.3	NP_006785.1	WXS	Illumina HiSeq	Phase_I	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1137_1138	-			289					B2RC02|Q6NWR2	In_Frame_Ins	INS	ENST00000394705.2	37	c.867_868insTGACTTGAAAAATAT	CCDS1849.1																																																																																				0.554	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2	0			2:54081026
USP34	9736	broad.mit.edu	37	2	61431719	61431720	+	In_Frame_Ins	INS	-	-	GTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:61431719_61431720insGTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	ENST00000398571.2	-	73	9247_9248	c.9171_9172insAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATAC	c.(9169-9174)cttgta>cttAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATACgta	p.3057_3058LV>LKCEPY*STVLDKYV		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3057					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCAAAAGTACAAGTTCCTTGA	0.342																																						ENST00000398571.2		NA																	0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9169-9174)cttgta>cttAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATACgta		ubiquitin specific peptidase 34																																				SO:0001652	inframe_insertion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61431719_61431720insGTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9171_9172insAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATAC	2.37:g.61431719_61431720insGTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	ENSP00000381577:p.Leu3057_Val3058insLysCysGluProTyr*SerThrValLeuAspLysTyr	False	False		Somatic	0					p.3057_3058LV>LKCEPY*STVLDKYV	NM_014709.3	NP_055524.3	WXS	Illumina HiSeq	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		73	9247_9248	-			3057					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Ins	INS	ENST00000398571.2	37	c.9171_9172insAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATAC	CCDS42686.1																																																																																				0.342	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	0			2:61431719
HK2	3099	broad.mit.edu	37	2	75100471	75100472	+	In_Frame_Ins	INS	-	-	GGGTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:75100471_75100472insGGGTAA	ENST00000290573.2	+	5	1164_1165	c.564_565insGGGTAA	c.(565-567)atc>GGGTAAatc	p.188_189insG*	HK2_ENST00000409174.1_In_Frame_Ins_p.160_161insG*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	188	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGTGGCTCTGATCCGGAAGGC	0.55																																						ENST00000409174.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(481-483)atc>GGGTAAatc		hexokinase 2																																				SO:0001652	inframe_insertion	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75100471_75100472insGGGTAA		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	Exception_encountered	2.37:g.75100471_75100472insGGGTAA	ENSP00000290573:p.Leu188_Ile189insGly*	False	False		Somatic	0				HK2_ENST00000290573.2_In_Frame_Ins_p.188_189insG*	p.160_161insG*			WXS	Illumina HiSeq	Phase_I	P52789	HXK2_HUMAN			5	670_671	+			188			Regulatory.		D6W5J2|Q8WU87|Q9UN82	In_Frame_Ins	INS	ENST00000290573.2	37	c.480_481insGGGTAA	CCDS1956.1																																																																																				0.550	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	0	NM_000189		2:75100471
BUB1	699	broad.mit.edu	37	2	111395627	111395628	+	In_Frame_Ins	INS	-	-	ATAAATCCCATGGAATATTTCCATGTAACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:111395627_111395628insATAAATCCCATGGAATATTTCCATGTAACT	ENST00000302759.6	-	25	3289_3290	c.3171_3172insAGTTACATGGAAATATTCCATGGGATTTAT	c.(3169-3174)gtattt>gtaAGTTACATGGAAATATTCCATGGGATTTATttt	p.1057_1058VF>VSYMEIFHGIYF	BUB1_ENST00000409311.1_In_Frame_Ins_p.1000_1001VF>VSYMEIFHGIYF|BUB1_ENST00000535254.1_In_Frame_Ins_p.1037_1038VF>VSYMEIFHGIYF	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1057	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTTGTTGAAATACTTTCTTCA	0.322																																						ENST00000302759.6		NA																	0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(3169-3174)gtattt>gtaAGTTACATGGAAATATTCCATGGGATTTATttt		BUB1 mitotic checkpoint serine/threonine kinase																																				SO:0001652	inframe_insertion	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111395627_111395628insATAAATCCCATGGAATATTTCCATGTAACT	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.3171_3172insAGTTACATGGAAATATTCCATGGGATTTAT	2.37:g.111395627_111395628insATAAATCCCATGGAATATTTCCATGTAACT	ENSP00000302530:p.Val1057_Phe1058insSerTyrMetGluIlePheHisGlyIleTyr	True	False		Somatic	0				BUB1_ENST00000409311.1_In_Frame_Ins_p.1000_1001VF>VSYMEIFHGIYF|BUB1_ENST00000535254.1_In_Frame_Ins_p.1037_1038VF>VSYMEIFHGIYF	p.1057_1058VF>VSYMEIFHGIYF	NM_004336.3	NP_004327.1	WXS	Illumina HiSeq	Phase_I	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	25	3289_3290	-		Ovarian(717;0.0822)	1057			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	In_Frame_Ins	INS	ENST00000302759.6	37	c.3171_3172insAGTTACATGGAAATATTCCATGGGATTTAT	CCDS33273.1																																																																																				0.322	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	0	NM_004336		2:111395627
ANAPC1	64682	broad.mit.edu	37	2	112614257	112614258	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361																																						ENST00000341068.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.e13-1		anaphase promoting complex subunit 1																																				SO:0001630	splice_region_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		g.chr2:112614257_112614258insT	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-1->A	2.37:g.112614258_112614258dupT		True	False		Somatic	1						NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			13	2222	-			NA					Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	ENST00000341068.3	37		CCDS2093.1																																																																																				0.361	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662	Intron	2:112614257
TTL	150465	broad.mit.edu	37	2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:113260636_113260637insTTTCTGCATATTATATAC	ENST00000233336.6	+	5	944_945	c.753_754insTTTCTGCATATTATATAC	c.(754-756)aac>TTTCTGCATATTATATACaac	p.251_252insFLHIIY		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	251	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTATTCAAAGAACTACGGGAA	0.376			T	ETV6	ALL																																	ENST00000233336.5		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(754-756)aac>TTTCTGCATATTATATACaac		tubulin tyrosine ligase																																				SO:0001652	inframe_insertion	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260636_113260637insTTTCTGCATATTATATAC		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	Exception_encountered	2.37:g.113260636_113260637insTTTCTGCATATTATATAC	ENSP00000233336:p.Lys251_Asn252insPheLeuHisIleIleTyr	False	False		Somatic	0					p.251_252insFLHIIY	NM_153712.4	NP_714923.1	WXS	Illumina HiSeq	Phase_I	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	944_945	+		Ovarian(717;0.024)	251			TTL.		Q585T3|Q7Z302|Q8N426	In_Frame_Ins	INS	ENST00000233336.6	37	c.753_754insTTTCTGCATATTATATAC	CCDS2096.1																																																																																				0.376	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	0	NM_153712		2:113260636
UGGT1	56886	broad.mit.edu	37	2	128903497	128903498	+	Frame_Shift_Ins	INS	-	-	TTTTTCTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903497_128903498insTTTTTCTT	ENST00000259253.6	+	18	2019_2020	c.1972_1973insTTTTTCTT	c.(1972-1974)aaafs	p.K658fs	UGGT1_ENST00000375990.3_Frame_Shift_Ins_p.K634fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAATGCATAAAATCCTGGAG	0.446																																						ENST00000259253.6		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1972-1974)aaafs		UDP-glucose glycoprotein glucosyltransferase 1																																				SO:0001589	frameshift_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128903497_128903498insTTTTTCTT	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	Exception_encountered	2.37:g.128903497_128903498insTTTTTCTT	ENSP00000259253:p.Lys658fs	True	False		Somatic	0				UGGT1_ENST00000375990.3_Frame_Shift_Ins_p.K634fs	p.K658fs	NM_020120.3	NP_064505.1	WXS	Illumina HiSeq	Phase_I	Q9NYU2	UGGG1_HUMAN			18	2019_2020	+			658					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Frame_Shift_Ins	INS	ENST00000259253.6	37	c.1972_1973insTTTTTCTT	CCDS2154.1																																																																																				0.446	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	0	NM_020120		2:128903497
UGGT1	56886	broad.mit.edu	37	2	128903498	128903499	+	In_Frame_Ins	INS	-	-	CATGCCTGTTCTAACAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903498_128903499insCATGCCTGTTCTAACAAC	ENST00000259253.6	+	18	2020_2021	c.1973_1974insCATGCCTGTTCTAACAAC	c.(1972-1977)aaaatc>aaCATGCCTGTTCTAACAACaatc	p.658_658K>NMPVLTT	UGGT1_ENST00000375990.3_In_Frame_Ins_p.634_634K>NMPVLTT	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K658N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAATGCATAAAATCCTGGAGA	0.441																																						ENST00000259253.6		NA																	1	Substitution - Missense(1)	p.K658N(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1972-1977)aaaatc>aaCATGCCTGTTCTAACAACaatc		UDP-glucose glycoprotein glucosyltransferase 1																																				SO:0001652	inframe_insertion	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128903498_128903499insCATGCCTGTTCTAACAAC	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	Exception_encountered	2.37:g.128903498_128903499insCATGCCTGTTCTAACAAC	ENSP00000259253:p.Lys658delinsAsnMetProValLeuThrThr	True	False		Somatic	0				UGGT1_ENST00000375990.3_In_Frame_Ins_p.634_634K>NMPVLTT	p.658_658K>NMPVLTT	NM_020120.3	NP_064505.1	WXS	Illumina HiSeq	Phase_I	Q9NYU2	UGGG1_HUMAN			18	2020_2021	+			658					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	In_Frame_Ins	INS	ENST00000259253.6	37	c.1973_1974insCATGCCTGTTCTAACAAC	CCDS2154.1																																																																																				0.441	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	0	NM_020120		2:128903498
RAB3GAP1	22930	broad.mit.edu	37	2	135893285	135893286	+	Frame_Shift_Ins	INS	-	-	AAATAACATTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:135893285_135893286insAAATAACATTTAT	ENST00000264158.8	+	17	1749_1750	c.1706_1707insAAATAACATTTAT	c.(1705-1710)ggagagfs	p.E570fs	RAB3GAP1_ENST00000539493.1_Frame_Shift_Ins_p.E526fs|RAB3GAP1_ENST00000442034.1_Frame_Shift_Ins_p.E570fs|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000487003.1_3'UTR|SNORA40_ENST00000385573.1_RNA	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	570					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAAAAGGGAGAGGTAGGAA	0.406																																						ENST00000264158.8		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1705-1710)ggagagfs		RAB3 GTPase activating protein subunit 1 (catalytic)																																				SO:0001589	frameshift_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893285_135893286insAAATAACATTTAT	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	Exception_encountered	2.37:g.135893285_135893286insAAATAACATTTAT	ENSP00000264158:p.Glu570fs	True	False		Somatic	0				RAB3GAP1_ENST00000442034.1_Frame_Shift_Ins_p.E570fs|RAB3GAP1_ENST00000539493.1_Frame_Shift_Ins_p.E526fs|RAB3GAP1_ENST00000487003.1_3'UTR	p.E570fs	NM_012233.2	NP_036365.1	WXS	Illumina HiSeq	Phase_I	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1749_1750	+			570					A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Ins	INS	ENST00000264158.8	37	c.1706_1707insAAATAACATTTAT	CCDS33294.1																																																																																				0.406	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	0	NM_012233		2:135893285
FMNL2	114793	broad.mit.edu	37	2	153485033	153485034	+	Frame_Shift_Ins	INS	-	-	CACAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:153485033_153485034insCACAA	ENST00000475377.2	+	5	711_712	c.511_512insCACAA	c.(511-513)cagfs	p.-170fs	FMNL2_ENST00000288670.9_Frame_Shift_Ins_p.-795fs			Q96PY5	FMNL2_HUMAN	formin-like 2						cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGAAAGCATTCAGATGCTGACT	0.455																																						ENST00000475377.2		NA																	0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(511-513)cagfs		formin-like 2																																				SO:0001589	frameshift_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153485033_153485034insCACAA	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	Exception_encountered	2.37:g.153485033_153485034insCACAA	ENSP00000418959:p.Ile170fs	False	False		Somatic	0				FMNL2_ENST00000288670.9_Frame_Shift_Ins_p.-795fs	p.-170fs			WXS	Illumina HiSeq	Phase_I	Q96PY5	FMNL2_HUMAN			5	711_712	+			NA					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Frame_Shift_Ins	INS	ENST00000475377.2	37	c.511_512insCACAA																																																																																					0.455	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	0	NM_052905		2:153485033
SESTD1	91404	broad.mit.edu	37	2	179977463	179977464	+	Frame_Shift_Ins	INS	-	-	ATGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977463_179977464insATGC	ENST00000428443.3	-	17	2264_2265	c.1948_1949insGCAT	c.(1948-1950)gttfs	p.V650fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	650							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCAGGATAAACTACTGGAACA	0.342																																						ENST00000428443.3		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(1948-1950)gttfs		SEC14 and spectrin domains 1																																				SO:0001589	frameshift_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179977463_179977464insATGC	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1948_1949insGCAT	2.37:g.179977463_179977464insATGC	ENSP00000415332:p.Val650fs	True	False		Somatic	0					p.V650fs	NM_178123.4	NP_835224.3	WXS	Illumina HiSeq	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2264_2265	-			650					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Frame_Shift_Ins	INS	ENST00000428443.3	37	c.1948_1949insGCAT	CCDS33338.1																																																																																				0.342	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	0	NM_178123		2:179977463
SESTD1	91404	broad.mit.edu	37	2	179977466	179977475	+	Frame_Shift_Del	DEL	ACTGGAACAG	ACTGGAACAG	-	rs143992866		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	ACTGGAACAG	ACTGGAACAG	-	-	ACTGGAACAG	ACTGGAACAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977466_179977475delACTGGAACAG	ENST00000428443.3	-	17	2253_2262	c.1937_1946delCTGTTCCAGT	c.(1936-1947)actgttccagtafs	p.TVPV646fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	646							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGATAAACTACTGGAACAGTTAATCTATC	0.338																																						ENST00000428443.3		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(1936-1947)actgttccagtafs		SEC14 and spectrin domains 1																																				SO:0001589	frameshift_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179977466_179977475delACTGGAACAG	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1937_1946delCTGTTCCAGT	2.37:g.179977466_179977475delACTGGAACAG	ENSP00000415332:p.Thr646fs	False	False		Somatic	1					p.TVPV646fs	NM_178123.4	NP_835224.3	WXS	Illumina HiSeq	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2253_2262	-			646					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Frame_Shift_Del	DEL	ENST00000428443.3	37	c.1937_1946delCTGTTCCAGT	CCDS33338.1																																																																																				0.338	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	0	NM_178123		2:179977466
SSFA2	6744	broad.mit.edu	37	2	182780429	182780430	+	Frame_Shift_Ins	INS	-	-	CTTCAGTAAT	rs147898134		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:182780429_182780430insCTTCAGTAAT	ENST00000431877.2	+	11	2241_2242	c.2062_2063insCTTCAGTAAT	c.(2062-2064)atgfs	p.M688fs	SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000409136.1_Frame_Shift_Ins_p.M197fs|SSFA2_ENST00000428267.2_Frame_Shift_Ins_p.M535fs|SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.M688fs	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	688						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCCTCTTCCATGGACAGAGTT	0.401																																						ENST00000409136.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(589-591)atgfs		sperm specific antigen 2																																				SO:0001589	frameshift_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780429_182780430insCTTCAGTAAT	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	Exception_encountered	2.37:g.182780429_182780430insCTTCAGTAAT	ENSP00000388731:p.Met688fs	False	False		Somatic	0				SSFA2_ENST00000431877.2_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000428267.2_Frame_Shift_Ins_p.M535fs|SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.M688fs	p.M197fs			WXS	Illumina HiSeq	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		3	701_702	+			688					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Frame_Shift_Ins	INS	ENST00000431877.2	37	c.589_590insCTTCAGTAAT	CCDS46467.1																																																																																				0.401	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	0	NM_006751		2:182780429
NCKAP1	10787	broad.mit.edu	37	2	183829513	183829514	+	Frame_Shift_Ins	INS	-	-	CTATGCAGAATCAGAAAAGTGCTTGAACAGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:183829513_183829514insCTATGCAGAATCAGAAAAGTGCTTGAACAGA	ENST00000361354.4	-	17	2023_2024	c.1651_1652insTCTGTTCAAGCACTTTTCTGATTCTGCATAG	c.(1651-1653)aagfs	p.K551fs	NCKAP1_ENST00000360982.2_Frame_Shift_Ins_p.K557fs	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	551					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAAACATCTTCTCAAAAGCA	0.307																																						ENST00000360982.2		NA																	0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1669-1671)aagfs		NCK-associated protein 1																																				SO:0001589	frameshift_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183829513_183829514insCTATGCAGAATCAGAAAAGTGCTTGAACAGA	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1651_1652insTCTGTTCAAGCACTTTTCTGATTCTGCATAG	2.37:g.183829513_183829514insCTATGCAGAATCAGAAAAGTGCTTGAACAGA	ENSP00000355348:p.Lys551fs	False	False		Somatic	0				NCKAP1_ENST00000361354.3_Frame_Shift_Ins_p.K551fs	p.K557fs	NM_205842.1	NP_995314.1	WXS	Illumina HiSeq	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		18	2427_2428	-			551					O60329|Q53QN5|Q53S94|Q53Y35	Frame_Shift_Ins	INS	ENST00000361354.4	37	c.1669_1670insTCTGTTCAAGCACTTTTCTGATTCTGCATAG	CCDS2287.1																																																																																				0.307	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	0	NM_205842		2:183829513
DNAH7	56171	broad.mit.edu	37	2	196762481	196762482	+	Frame_Shift_Ins	INS	-	-	GTGTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:196762481_196762482insGTGTGTT	ENST00000312428.6	-	29	4656_4657	c.4556_4557insAACACAC	c.(4555-4557)tatfs	p.Y1519fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1519					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCATTTGGATATTTCAGCTA	0.351																																						ENST00000312428.6		NA																	0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4555-4557)tatfs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196762481_196762482insGTGTGTT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4556_4557insAACACAC	2.37:g.196762481_196762482insGTGTGTT	ENSP00000311273:p.Tyr1519fs	False	False		Somatic	0					p.Y1519fs	NM_018897.2	NP_061720.2	WXS	Illumina HiSeq	Phase_I	Q8WXX0	DYH7_HUMAN			29	4656_4657	-			1519					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.4556_4557insAACACAC	CCDS42794.1																																																																																				0.351	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	NM_018897		2:196762481
HOXD8	3234	broad.mit.edu	37	2	176996307	176996308	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:176996307_176996308insCT	ENST00000313173.4	+	2	1467_1468	c.840_841insCT	c.(841-843)gagfs	p.E281fs	HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.E280fs|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.E280fs|HOXD8_ENST00000429017.1_Frame_Shift_Ins_p.E97fs|HOXD8_ENST00000548663.1_Frame_Shift_Ins_p.E177fs|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	281					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCAAGAGCTGGAGGAAGACAG	0.431																																						ENST00000429017.1		NA																	0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(289-291)gagfs		homeobox D8																																				SO:0001589	frameshift_variant	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996307_176996308insCT		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	Exception_encountered	2.37:g.176996307_176996308insCT	ENSP00000315949:p.Glu281fs	False	False		Somatic	0				HOXD8_ENST00000548663.1_Frame_Shift_Ins_p.E177fs|HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.E280fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000313173.4_Frame_Shift_Ins_p.E281fs|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.E280fs	p.E97fs	NM_001199747.1	NP_001186676.1	WXS	Illumina HiSeq	Phase_I	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	3	492_493	+			281					F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Ins	INS	ENST00000313173.4	37	c.288_289insCT	CCDS2268.1																																																																																				0.431	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1	0			2:176996307
GOLGA4	2803	broad.mit.edu	37	3	37367172	37367173	+	Frame_Shift_Ins	INS	-	-	CTTTTTTCATGTGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:37367172_37367173insCTTTTTTCATGTGAAG	ENST00000361924.2	+	14	4169_4170	c.3795_3796insCTTTTTTCATGTGAAG	c.(3796-3798)attfs	p.I1266fs	GOLGA4_ENST00000356847.4_Frame_Shift_Ins_p.I1288fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1266	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCACTGTTAATTAAAACTTG	0.347																																						ENST00000361924.2		NA																	0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3796-3798)attfs		golgin A4																																				SO:0001589	frameshift_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367172_37367173insCTTTTTTCATGTGAAG	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	Exception_encountered	3.37:g.37367172_37367173insCTTTTTTCATGTGAAG	ENSP00000354486:p.Ile1266fs	True	False		Somatic	0				GOLGA4_ENST00000356847.4_Frame_Shift_Ins_p.I1288fs|GOLGA4_ENST00000444882.1_Intron	p.I1266fs	NM_002078.4	NP_002069.2	WXS	Illumina HiSeq	Phase_I	Q13439	GOGA4_HUMAN			14	4169_4170	+			1266			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Frame_Shift_Ins	INS	ENST00000361924.2	37	c.3795_3796insCTTTTTTCATGTGAAG	CCDS2666.1																																																																																				0.347	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	0	NM_002078		3:37367172
ZNF660	285349	broad.mit.edu	37	3	44636431	44636432	+	Frame_Shift_Ins	INS	-	-	ACTTTTTTTCC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:44636431_44636432insACTTTTTTTCC	ENST00000322734.2	+	3	1079_1080	c.746_747insACTTTTTTTCC	c.(745-750)aatgagfs	p.NE249fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACAAATGTAATGAGTGTGGGA	0.371																																						ENST00000322734.2		NA																	0				large_intestine(2)|lung(4)	6						c.(745-750)aatgagfs		zinc finger protein 660																																				SO:0001589	frameshift_variant	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636431_44636432insACTTTTTTTCC	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	Exception_encountered	3.37:g.44636431_44636432insACTTTTTTTCC	ENSP00000324605:p.Asn249fs	False	False		Somatic	0				RP11-944L7.4_ENST00000457331.1_RNA	p.NE249fs	NM_173658.2	NP_775929.2	WXS	Illumina HiSeq	Phase_I	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1079_1080	+			249					Q7Z331|Q8N9M8	Frame_Shift_Ins	INS	ENST00000322734.2	37	c.746_747insACTTTTTTTCC	CCDS2716.1																																																																																				0.371	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	0	NM_173658		3:44636431
CCRL2	9034	broad.mit.edu	37	3	46450511	46450512	+	In_Frame_Ins	INS	-	-	AACCTTAGTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:46450511_46450512insAACCTTAGTGTT	ENST00000399036.3	+	2	1293_1294	c.941_942insAACCTTAGTGTT	c.(940-945)tgtttc>tgAACCTTAGTGTTtttc	p.314_314C>*TLVF	CCRL2_ENST00000400880.3_In_Frame_Ins_p.314_314C>*TLVF|CCRL2_ENST00000400882.2_In_Frame_Ins_p.314_314C>*TLVF|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_In_Frame_Ins_p.326_326C>*TLVF	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	314					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CTCTGCCGCTGTTTCCATCTGC	0.51																																						ENST00000399036.3		NA																	0					NA						c.(940-945)tgtttc>tgAACCTTAGTGTTtttc																																						SO:0001652	inframe_insertion	0							g.chr3:46450511_46450512insAACCTTAGTGTT	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	Exception_encountered	3.37:g.46450511_46450512insAACCTTAGTGTT	ENSP00000381994:p.Cys314delins*ThrLeuValPhe	True	False		Somatic	0				ACKR5_ENST00000357392.4_In_Frame_Ins_p.326_326C>*TLVF|ACKR5_ENST00000400880.3_In_Frame_Ins_p.314_314C>*TLVF|ACKR5_ENST00000400882.2_In_Frame_Ins_p.314_314C>*TLVF	p.314_314C>*TLVF	NM_003965.4	NP_003956.2	WXS	Illumina HiSeq	Phase_I					2	1293_1294	+			NA					B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	In_Frame_Ins	INS	ENST00000399036.3	37	c.941_942insAACCTTAGTGTT	CCDS43079.1																																																																																				0.510	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2	0			3:46450511
MST1R	4486	broad.mit.edu	37	3	49933830	49933831	+	In_Frame_Ins	INS	-	-	ATTAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:49933830_49933831insATTAAG	ENST00000296474.3	-	10	2473_2474	c.2446_2447insCTTAAT	c.(2446-2448)agg>aCTTAATgg	p.816_816R>T*W	MST1R_ENST00000344206.4_In_Frame_Ins_p.816_816R>T*W|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	816	IPT/TIG 3.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGAAGCTGCCTCTCACACTGC	0.609																																						ENST00000296474.3		NA																	0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(2446-2448)agg>aCTTAATgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)																																				SO:0001652	inframe_insertion	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933830_49933831insATTAAG	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2446_2447insCTTAAT	3.37:g.49933830_49933831insATTAAG	ENSP00000296474:p.Arg816delinsThr*Trp	False	False		Somatic	0				MST1R_ENST00000344206.4_In_Frame_Ins_p.816_816R>T*W	p.816_816R>T*W	NM_002447.2	NP_002438.2	WXS	Illumina HiSeq	Phase_I	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	10	2473_2474	-			816			IPT/TIG 3.		B5A944|B5A945|B5A946|B5A947	In_Frame_Ins	INS	ENST00000296474.3	37	c.2446_2447insCTTAAT	CCDS2807.1																																																																																				0.609	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	0			3:49933830
ALAS1	211	broad.mit.edu	37	3	52242229	52242230	+	In_Frame_Ins	INS	-	-	AGAACAACGTAAACTTCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:52242229_52242230insAGAACAACGTAAACTTCT	ENST00000394965.2	+	9	1656_1657	c.1296_1297insAGAACAACGTAAACTTCT	c.(1297-1299)atg>AGAACAACGTAAACTTCTatg	p.432_433insRTT*TS	ALAS1_ENST00000310271.2_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000469224.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000484952.1_In_Frame_Ins_p.432_433insRTT*TS	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	432					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GGGATGGAGTCATGCCAAAAAT	0.47																																						ENST00000394965.2		NA																	0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1297-1299)atg>AGAACAACGTAAACTTCTatg		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)																																			SO:0001652	inframe_insertion	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52242229_52242230insAGAACAACGTAAACTTCT	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	Exception_encountered	3.37:g.52242229_52242230insAGAACAACGTAAACTTCT	ENSP00000378416:p.Val432_Met433insArgThrThr*ThrSer	False	False		Somatic	0				ALAS1_ENST00000469224.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000484952.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000310271.2_In_Frame_Ins_p.432_433insRTT*TS	p.432_433insRTT*TS	NM_000688.5	NP_000679.1	WXS	Illumina HiSeq	Phase_I	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	9	1656_1657	+			432						In_Frame_Ins	INS	ENST00000394965.2	37	c.1296_1297insAGAACAACGTAAACTTCT	CCDS2847.1																																																																																				0.470	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1	0			3:52242229
CCDC80	151887	broad.mit.edu	37	3	112324416	112324417	+	Frame_Shift_Ins	INS	-	-	CCTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:112324416_112324417insCCTTT	ENST00000206423.3	-	8	3653_3654	c.2700_2701insAAAGG	c.(2698-2703)agacagfs	p.Q901fs	CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.Q901fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	901					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCCATTTCCTGTCTCCGAAGTT	0.465																																						ENST00000206423.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2698-2703)agacagfs		coiled-coil domain containing 80																																				SO:0001589	frameshift_variant	151887							g.chr3:112324416_112324417insCCTTT	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2700_2701insAAAGG	3.37:g.112324416_112324417insCCTTT	ENSP00000206423:p.Gln901fs	False	False		Somatic	0				CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.Q901fs	p.Q901fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	WXS	Illumina HiSeq	Phase_I	Q76M96	CCD80_HUMAN			8	3653_3654	-			901					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Ins	INS	ENST00000206423.3	37	c.2700_2701insAAAGG	CCDS2968.1																																																																																				0.465	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	0	NM_199511		3:112324416
SPICE1	152185	broad.mit.edu	37	3	113172572	113172573	+	Frame_Shift_Ins	INS	-	-	ATTCAGCTATCAAGGCACATATGAATAATATTATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:113172572_113172573insATTCAGCTATCAAGGCACATATGAATAATATTATT	ENST00000295872.4	-	14	2141_2142	c.1882_1883insAATAATATTATTCATATGTGCCTTGATAGCTGAAT	c.(1882-1884)ctcfs	p.L628fs		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	628					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GGAATTGCAGAGGGGCTGTGAG	0.48																																						ENST00000295872.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1882-1884)ctcfs		spindle and centriole associated protein 1																																				SO:0001589	frameshift_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172572_113172573insATTCAGCTATCAAGGCACATATGAATAATATTATT	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1882_1883insAATAATATTATTCATATGTGCCTTGATAGCTGAAT	3.37:g.113172572_113172573insATTCAGCTATCAAGGCACATATGAATAATATTATT	ENSP00000295872:p.Leu628fs	True	False		Somatic	0					p.L628fs	NM_144718.3	NP_653319.1	WXS	Illumina HiSeq	Phase_I	Q8N0Z3	SPICE_HUMAN			14	2141_2142	-			628					D3DN72|Q8WUX6	Frame_Shift_Ins	INS	ENST00000295872.4	37	c.1882_1883insAATAATATTATTCATATGTGCCTTGATAGCTGAAT	CCDS2973.1																																																																																				0.480	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	0	NM_144718		3:113172572
GOLGB1	2804	broad.mit.edu	37	3	121433821	121433822	+	Frame_Shift_Ins	INS	-	-	TACTTCGGTGCTCTAATGAGGATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:121433821_121433822insTACTTCGGTGCTCTAATGAGGATTT	ENST00000340645.5	-	10	1400_1401	c.1275_1276insAAATCCTCATTAGAGCACCGAAGTA	c.(1273-1278)gatcagfs	p.Q426fs	GOLGB1_ENST00000393667.3_Frame_Shift_Ins_p.Q431fs	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	426					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTGGAGCTGATCTAAGGAAA	0.307																																						ENST00000393667.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1288-1293)gatcagfs		golgin B1																																				SO:0001589	frameshift_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121433821_121433822insTACTTCGGTGCTCTAATGAGGATTT	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1275_1276insAAATCCTCATTAGAGCACCGAAGTA	3.37:g.121433821_121433822insTACTTCGGTGCTCTAATGAGGATTT	ENSP00000341848:p.Gln426fs	False	False		Somatic	0				GOLGB1_ENST00000340645.5_Frame_Shift_Ins_p.Q426fs	p.Q431fs	NM_001256486.1	NP_001243415.1	WXS	Illumina HiSeq	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	10	1400_1401	-			426					B2ZZ91|D3DN92|E7EP74|Q14398	Frame_Shift_Ins	INS	ENST00000340645.5	37	c.1290_1291insAAATCCTCATTAGAGCACCGAAGTA	CCDS3004.1																																																																																				0.307	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	0	NM_004487		3:121433821
MGLL	11343	broad.mit.edu	37	3	127454654	127454655	+	Intron	INS	-	-	CTTTTTTATTTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:127454654_127454655insCTTTTTTATTTTAT	ENST00000434178.2	-	4	1129				MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398101.3_Frame_Shift_Ins_p.-16fs			Q99685	MGLL_HUMAN	monoglyceride lipase						acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCATTCTCTTGGTGCTCGCATC	0.495																																						ENST00000398101.3		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(46-48)accfs		monoglyceride lipase																																				SO:0001627	intron_variant	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127454654_127454655insCTTTTTTATTTTAT	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.233-13245->ATAAAATAAAAAAG	3.37:g.127454654_127454655insCTTTTTTATTTTAT		False	False		Somatic	0				MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron	p.-16fs			WXS	Illumina HiSeq	Phase_I	Q99685	MGLL_HUMAN			1	545_546	-			NA					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Frame_Shift_Ins	INS	ENST00000434178.2	37	c.47_48insATAAAATAAAAAAG	CCDS43148.1																																																																																				0.495	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	0	NM_007283		3:127454654
RSRC1	51319	broad.mit.edu	37	3	157921019	157921020	+	In_Frame_Ins	INS	-	-	GTAAGCAGATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:157921019_157921020insGTAAGCAGATTT	ENST00000295930.3	+	4	641_642	c.479_480insGTAAGCAGATTT	c.(478-483)cataac>caGTAAGCAGATTTtaac	p.160_160H>Q*ADF	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_In_Frame_Ins_p.160_160H>Q*ADF|RSRC1_ENST00000475278.2_In_Frame_Ins_p.160_160H>Q*ADF	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaggaATTACATAACATCAAAC	0.411																																						ENST00000295930.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(478-483)cataac>caGTAAGCAGATTTtaac		arginine/serine-rich coiled-coil 1																																				SO:0001652	inframe_insertion	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157921019_157921020insGTAAGCAGATTT	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	Exception_encountered	3.37:g.157921019_157921020insGTAAGCAGATTT	ENSP00000295930:p.His160delinsGln*AlaAspPhe	False	False		Somatic	0				RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000475278.2_In_Frame_Ins_p.160_160H>Q*ADF|RSRC1_ENST00000480820.1_In_Frame_Ins_p.160_160H>Q*ADF	p.160_160H>Q*ADF	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	WXS	Illumina HiSeq	Phase_I	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	641_642	+			160					A8K2R9|Q96QK2|Q9NZE5	In_Frame_Ins	INS	ENST00000295930.3	37	c.479_480insGTAAGCAGATTT	CCDS3181.1																																																																																				0.411	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	0	NM_016625		3:157921019
IL12A-AS1	101928376	broad.mit.edu	37	3	159820121	159820122	+	RNA	INS	-	-	TGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:159820121_159820122insTGCT	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		AAAAAAATGGAGATTACAGAAG	0.446																																						ENST00000497452.1		NA																	0					NA																																														0							g.chr3:159820121_159820122insTGCT	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.159820121_159820122insTGCT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	517	-			NA						RNA	INS	ENST00000497452.1	37																																																																																						0.446	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1	0			3:159820121
IL12A-AS1	101928376	broad.mit.edu	37	3	159820123	159820124	+	RNA	INS	-	-	AAACGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:159820123_159820124insAAACGC	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		AAAAATGGAGATTACAGAAGTA	0.446																																						ENST00000497452.1		NA																	0					NA																																														0							g.chr3:159820123_159820124insAAACGC	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.159820123_159820124insAAACGC		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	517	-			NA						RNA	INS	ENST00000497452.1	37																																																																																						0.446	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1	0			3:159820123
MFN1	55669	broad.mit.edu	37	3	179076778	179076779	+	Frame_Shift_Ins	INS	-	-	CAAAACAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:179076778_179076779insCAAAACAT	ENST00000471841.1	+	4	525_526	c.399_400insCAAAACAT	c.(400-402)aagfs	p.K134fs	MFN1_ENST00000263969.5_Frame_Shift_Ins_p.K134fs|MFN1_ENST00000280653.7_Frame_Shift_Ins_p.K134fs	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	134	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGATGAAAAAAAGAGTGTGAA	0.347																																						ENST00000471841.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(400-402)aagfs		mitofusin 1																																				SO:0001589	frameshift_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179076778_179076779insCAAAACAT	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	Exception_encountered	3.37:g.179076778_179076779insCAAAACAT	ENSP00000420617:p.Lys134fs	True	False		Somatic	0				MFN1_ENST00000280653.7_Frame_Shift_Ins_p.K134fs|MFN1_ENST00000263969.5_Frame_Shift_Ins_p.K134fs	p.K134fs	NM_033540.2	NP_284941.2	WXS	Illumina HiSeq	Phase_I	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		4	525_526	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		134					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Frame_Shift_Ins	INS	ENST00000471841.1	37	c.399_400insCAAAACAT	CCDS3228.1																																																																																				0.347	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	0	NM_017927		3:179076778
PSMD2	5708	broad.mit.edu	37	3	184020606	184020607	+	Frame_Shift_Ins	INS	-	-	TTTATGCAAGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:184020606_184020607insTTTATGCAAGT	ENST00000310118.4	+	7	1561_1562	c.1003_1004insTTTATGCAAGT	c.(1003-1005)cggfs	p.R335fs	PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.R205fs|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.R176fs|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGCCTTAGCTCGGGAGGTGAGA	0.485																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1003-1005)cggfs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)																																			SO:0001589	frameshift_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020606_184020607insTTTATGCAAGT	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	Exception_encountered	3.37:g.184020606_184020607insTTTATGCAAGT	ENSP00000310129:p.Arg335fs	True	False		Somatic	0				PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.R205fs|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.R176fs|EIF2B5_ENST00000444495.1_Intron	p.R335fs	NM_002808.3	NP_002799.3	WXS	Illumina HiSeq	Phase_I	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1561_1562	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		335					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Frame_Shift_Ins	INS	ENST00000310118.4	37	c.1003_1004insTTTATGCAAGT	CCDS3258.1																																																																																				0.485	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	0	NM_002808		3:184020606
MUC4	4585	broad.mit.edu	37	3	195517983	195517984	+	Frame_Shift_Ins	INS	-	-	TTCTCTCCAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:195517983_195517984insTTCTCTCCAA	ENST00000463781.3	-	2	926_927	c.467_468insTTGGAGAGAA	c.(466-468)acafs	p.-156fs	MUC4_ENST00000475231.1_Frame_Shift_Ins_p.-156fs|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGTTCCTGCTGTTGATGTCTC	0.465																																						ENST00000463781.3		NA																	0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(466-468)acafs		mucin 4, cell surface associated																																				SO:0001589	frameshift_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517983_195517984insTTCTCTCCAA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.467_468insTTGGAGAGAA	3.37:g.195517983_195517984insTTCTCTCCAA	ENSP00000417498:p.Thr156fs	False	False		Somatic	0				MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.-156fs	p.-156fs	NM_018406.6	NP_060876.5	WXS	Illumina HiSeq	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	926_927	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	NA					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	c.467_468insTTGGAGAGAA	CCDS54700.1																																																																																				0.465	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	0	NM_018406		3:195517983
TLR1	7096	broad.mit.edu	37	4	38798452	38798453	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:38798452_38798453insAT	ENST00000502213.2	-	3	2229_2230	c.2000_2001insAT	c.(1999-2001)tgcfs	p.C667fs	TLR1_ENST00000308979.2_Frame_Shift_Ins_p.C667fs|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	667	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TCTCATGAAGGCAAATCTGCAT	0.386																																					GBM(5;216 373 40795 46382)	ENST00000502213.2		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1999-2001)tgcfs		toll-like receptor 1																																				SO:0001589	frameshift_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798452_38798453insAT	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2000_2001insAT	4.37:g.38798452_38798453insAT	ENSP00000421259:p.Cys667fs	True	False		Somatic	0				TLR1_ENST00000308979.2_Frame_Shift_Ins_p.C667fs	p.C667fs			WXS	Illumina HiSeq	Phase_I	Q15399	TLR1_HUMAN			3	2229_2230	-			667			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Frame_Shift_Ins	INS	ENST00000502213.2	37	c.2000_2001insAT	CCDS33973.1																																																																																				0.386	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3	0			4:38798452
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
SLC30A9	10463	broad.mit.edu	37	4	42003781	42003782	+	In_Frame_Ins	INS	-	-	TATATACTTTAATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:42003781_42003782insTATATACTTTAATTT	ENST00000264451.7	+	2	438_439	c.258_259insTATATACTTTAATTT	c.(259-261)cca>TATATACTTTAATTTcca	p.86_87insYIL*F		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	86					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGAAAAAGTACCATCATTTGA	0.337																																						ENST00000264451.6		NA																	0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(259-261)cca>TATATACTTTAATTTcca		solute carrier family 30 (zinc transporter), member 9																																				SO:0001652	inframe_insertion	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42003781_42003782insTATATACTTTAATTT	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	Exception_encountered	4.37:g.42003781_42003782insTATATACTTTAATTT	ENSP00000264451:p.Val86_Pro87insTyrIleLeu*Phe	False	False		Somatic	0					p.86_87insYIL*F	NM_006345.3	NP_006336.3	WXS	Illumina HiSeq	Phase_I	Q6PML9	ZNT9_HUMAN			2	438_439	+			86					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	In_Frame_Ins	INS	ENST00000264451.7	37	c.258_259insTATATACTTTAATTT	CCDS3465.1																																																																																				0.337	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3	0			4:42003781
AZIN2	113451	broad.mit.edu	37	1	33558973	33558974	+	In_Frame_Ins	INS	-	-	CGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:33558973_33558974insCGC	ENST00000294517.6	+	7	1130_1131	c.543_544insCGC	c.(544-546)ctt>CGCctt	p.181_182insR	ADC_ENST00000358680.3_Intron|ADC_ENST00000398167.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000373441.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.181_182insR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		181					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GCAGACACCTGCTTGAAAATGC	0.564																																						ENST00000294517.6		NA																	0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(544-546)ctt>CGCctt		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001652	inframe_insertion	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33558973_33558974insCGC																												Exception_encountered	1.37:g.33558973_33558974insCGC	ENSP00000294517:p.Leu181_Leu182insArg	False	False		Somatic	0				ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.181_182insR|ADC_ENST00000373441.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000358680.3_Intron|ADC_ENST00000398167.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000373440.1_Intron	p.181_182insR	NM_052998.2	NP_443724.1	WXS	Illumina HiSeq	Phase_I	Q96A70	ADC_HUMAN			7	1130_1131	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	181					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	In_Frame_Ins	INS	ENST00000294517.6	37	c.543_544insCGC	CCDS375.1																																																																																				0.564	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1	0			1:33558973
UGT2B10	7365	broad.mit.edu	37	4	69681925	69681926	+	Frame_Shift_Ins	INS	-	-	CCAGTCACTGTTTCTTTCTCATACTTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:69681925_69681926insCCAGTCACTGTTTCTTTCTCATACTTATA	ENST00000265403.7	+	1	215_216	c.188_189insCCAGTCACTGTTTCTTTCTCATACTTATA	c.(187-192)tttgatfs	p.D64fs	UGT2B10_ENST00000458688.2_Frame_Shift_Ins_p.D64fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	64					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCATTCTTTTTGATCCCAACG	0.371																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7		NA																	0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(187-192)tttgatfs		UDP glucuronosyltransferase 2 family, polypeptide B10																																				SO:0001589	frameshift_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69681925_69681926insCCAGTCACTGTTTCTTTCTCATACTTATA	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		Exception_encountered	4.37:g.69681925_69681926insCCAGTCACTGTTTCTTTCTCATACTTATA	ENSP00000265403:p.Asp64fs	True	False		Somatic	0				UGT2B10_ENST00000458688.2_Frame_Shift_Ins_p.D64fs	p.D64fs	NM_001075.4	NP_001066.1	WXS	Illumina HiSeq	Phase_I	P36537	UDB10_HUMAN			1	215_216	+			64					A8K9M3|B4DPP1|Q14CR8	Frame_Shift_Ins	INS	ENST00000265403.7	37	c.188_189insCCAGTCACTGTTTCTTTCTCATACTTATA																																																																																					0.371	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	0	NM_001075		4:69681925
AFF1	4299	broad.mit.edu	37	4	87967962	87967963	+	In_Frame_Ins	INS	-	-	AAAAGGAGAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:87967962_87967963insAAAAGGAGAATT	ENST00000307808.6	+	3	674_675	c.254_255insAAAAGGAGAATT	c.(253-258)aatagg>aaAAAAGGAGAATTtagg	p.85_85N>KKGEF	AFF1_ENST00000395146.4_In_Frame_Ins_p.92_92N>KKGEF|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	85					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTCTGAAAATAGGTTGGGAA	0.46																																						ENST00000307808.6		NA																	0				breast(1)|large_intestine(2)	3						c.(253-258)aatagg>aaAAAAGGAGAATTtagg		AF4/FMR2 family, member 1																																				SO:0001652	inframe_insertion	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967962_87967963insAAAAGGAGAATT	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	Exception_encountered	4.37:g.87967962_87967963insAAAAGGAGAATT	ENSP00000305689:p.Asn85delinsLysLysGlyGluPhe	True	False		Somatic	0				AFF1_ENST00000395146.4_In_Frame_Ins_p.92_92N>KKGEF|AFF1_ENST00000544085.1_Intron	p.85_85N>KKGEF	NM_005935.2	NP_005926.1	WXS	Illumina HiSeq	Phase_I	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	674_675	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	85					B4DTU1|E9PBM3	In_Frame_Ins	INS	ENST00000307808.6	37	c.254_255insAAAAGGAGAATT	CCDS3616.1																																																																																				0.460	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	0	NM_005935		4:87967962
DSPP	1834	broad.mit.edu	37	4	88535457	88535458	+	Frame_Shift_Ins	INS	-	-	GTTATAAGAAGCATCTCCTCGGCTAC	rs200702122		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88535457_88535458insGTTATAAGAAGCATCTCCTCGGCTAC	ENST00000282478.7	+	4	1676_1677	c.1643_1644insGTTATAAGAAGCATCTCCTCGGCTAC	c.(1642-1647)gatagcfs	p.DS548fs	DSPP_ENST00000399271.1_Frame_Shift_Ins_p.DS548fs|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	548	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGTAAATCAgatagcagtgaca	0.411																																						ENST00000282478.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1642-1647)gatagcfs		dentin sialophosphoprotein																																				SO:0001589	frameshift_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535457_88535458insGTTATAAGAAGCATCTCCTCGGCTAC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	Exception_encountered	4.37:g.88535457_88535458insGTTATAAGAAGCATCTCCTCGGCTAC	ENSP00000282478:p.Asp548fs	False	False		Somatic	0				RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Frame_Shift_Ins_p.DS548fs	p.DS548fs			WXS	Illumina HiSeq	Phase_I	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1676_1677	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	548			Asp/Ser-rich.		A8MUI0|O95815	Frame_Shift_Ins	INS	ENST00000282478.7	37	c.1643_1644insGTTATAAGAAGCATCTCCTCGGCTAC	CCDS43248.1																																																																																				0.411	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	0	NM_014208		4:88535457
LEF1	51176	broad.mit.edu	37	4	108985512	108985513	+	Frame_Shift_Ins	INS	-	-	CTTTTAAAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:108985512_108985513insCTTTTAAAAA	ENST00000265165.1	-	10	1798_1799	c.1144_1145insTTTTTAAAAG	c.(1144-1146)aaafs	p.K382fs	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000379951.2_Frame_Shift_Ins_p.K354fs|LEF1_ENST00000510624.1_Frame_Shift_Ins_p.K286fs|LEF1_ENST00000438313.2_Frame_Shift_Ins_p.K354fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	382					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TTCCTGTAGTTTCTCTCTCTTC	0.431																																						ENST00000265165.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(1144-1146)aaafs		lymphoid enhancer-binding factor 1																																				SO:0001589	frameshift_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108985512_108985513insCTTTTAAAAA		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1144_1145insTTTTTAAAAG	4.37:g.108985512_108985513insCTTTTAAAAA	ENSP00000265165:p.Lys382fs	True	False		Somatic	0				LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Frame_Shift_Ins_p.K286fs|LEF1_ENST00000379951.2_Frame_Shift_Ins_p.K354fs|LEF1_ENST00000438313.2_Frame_Shift_Ins_p.K354fs	p.K382fs	NM_016269.4	NP_057353.1	WXS	Illumina HiSeq	Phase_I	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	10	1798_1799	-			382					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Frame_Shift_Ins	INS	ENST00000265165.1	37	c.1144_1145insTTTTTAAAAG	CCDS3679.1																																																																																				0.431	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2	0			4:108985512
EGF	1950	broad.mit.edu	37	4	110864539	110864540	+	In_Frame_Ins	INS	-	-	ACAACAAAATTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:110864539_110864540insACAACAAAATTA	ENST00000265171.5	+	3	902_903	c.457_458insACAACAAAATTA	c.(457-459)ctt>cACAACAAAATTAtt	p.153_153L>HNKII	EGF_ENST00000503392.1_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_In_Frame_Ins_p.153_153L>HNKII	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	153					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTCCCACATTCTTTTAAGTGCT	0.307																																						ENST00000509793.1		NA																	0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(457-459)ctt>cACAACAAAATTAtt		epidermal growth factor	Sulindac(DB00605)																																			SO:0001652	inframe_insertion	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864539_110864540insACAACAAAATTA	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	Exception_encountered	4.37:g.110864539_110864540insACAACAAAATTA	ENSP00000265171:p.Leu153delinsHisAsnLysIleIle	True	False		Somatic	0				EGF_ENST00000265171.5_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000503392.1_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000502723.1_3'UTR	p.153_153L>HNKII	NM_001178131.1	NP_001171602.1	WXS	Illumina HiSeq	Phase_I	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	909_910	+		Hepatocellular(203;0.0893)	153					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	In_Frame_Ins	INS	ENST00000265171.5	37	c.457_458insACAACAAAATTA	CCDS3689.1																																																																																				0.307	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	0			4:110864539
SYNPO2	171024	broad.mit.edu	37	4	119947962	119947964	+	In_Frame_Del	DEL	AAG	AAG	-	rs70944826	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:119947962_119947964delAAG	ENST00000429713.2	+	3	620_622	c.438_440delAAG	c.(436-441)caaaga>caa	p.R147del	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_In_Frame_Del_p.R147del|SYNPO2_ENST00000307142.4_In_Frame_Del_p.R147del	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	147				Missing (in Ref. 3; AL832031). {ECO:0000305}.		actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGAGAACCAAAGAAGTGGTCCC	0.552														1780	0.355431	0.2375	0.4654	5008	,	,		17830	0.496		0.3489	False		,,,				2504	0.2986					ENST00000307142.4		NA																	0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(436-441)caaaga>caa		synaptopodin 2			,,	1140,3126		155,830,1148					,,	2.9	0.4		dbSNP_130	44	3087,5167		549,1989,1589	no	coding,coding,coding	SYNPO2	NM_133477.2,NM_001128934.1,NM_001128933.1	,,	704,2819,2737	A1A1,A1R,RR		37.4,26.7229,33.762	,,	,,		4227,8293				SO:0001651	inframe_deletion	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119947962_119947964delAAG	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.438_440delAAG	4.37:g.119947965_119947967delAAG	ENSP00000395143:p.Arg147del	True	False		Somatic	2				SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_In_Frame_Del_p.R147del|SYNPO2_ENST00000434046.2_In_Frame_Del_p.R147del	p.R147del	NM_133477.2	NP_597734.2	WXS	Illumina HiSeq	Phase_I	Q9UMS6	SYNP2_HUMAN			3	634_636	+			147	Missing (in Ref. 2; AL832031).				B2RWP6|B2Y8J9|Q9UK89|S5XAM4	In_Frame_Del	DEL	ENST00000429713.2	37	c.438_440delAAG	CCDS47129.1																																																																																				0.552	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1	0			4:119947962
USP53	54532	broad.mit.edu	37	4	120181068	120181069	+	In_Frame_Ins	INS	-	-	GAACTTAAAACTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:120181068_120181069insGAACTTAAAACTTTA	ENST00000274030.6	+	10	1842_1843	c.663_664insGAACTTAAAACTTTA	c.(664-666)agg>GAACTTAAAACTTTAagg	p.221_222insELKTL	USP53_ENST00000450251.1_In_Frame_Ins_p.221_222insELKTL	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAGATGACTATAGGAAATGTCC	0.322																																						ENST00000274030.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(664-666)agg>GAACTTAAAACTTTAagg		ubiquitin specific peptidase 53																																				SO:0001652	inframe_insertion	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120181068_120181069insGAACTTAAAACTTTA	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	Exception_encountered	4.37:g.120181068_120181069insGAACTTAAAACTTTA	ENSP00000274030:p.Tyr221_Arg222insGluLeuLysThrLeu	False	False		Somatic	0				USP53_ENST00000450251.1_In_Frame_Ins_p.221_222insELKTL	p.221_222insELKTL	NM_019050.2	NP_061923.2	WXS	Illumina HiSeq	Phase_I	Q70EK8	UBP53_HUMAN			10	1842_1843	+			221						In_Frame_Ins	INS	ENST00000274030.6	37	c.663_664insGAACTTAAAACTTTA	CCDS43265.1																																																																																				0.322	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	0	XM_052597		4:120181068
FAT4	79633	broad.mit.edu	37	4	126398422	126398423	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398422_126398423insA	ENST00000394329.3	+	13	12419_12420	c.12406_12407insA	c.(12406-12408)gagfs	p.E4136fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E2399fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTATAATGGAGTTTGCAGTC	0.431																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12406-12408)gagfs		FAT atypical cadherin 4																																				SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126398422_126398423insA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12407dupA	4.37:g.126398423_126398423dupA	ENSP00000377862:p.Glu4136fs	False	False		Somatic	1				FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E2399fs	p.E4136fs	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			13	12419_12420	+			4136			Laminin G-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	ENST00000394329.3	37	c.12406_12407insA	CCDS3732.3																																																																																				0.431	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126398422
FAT4	79633	broad.mit.edu	37	4	126398424	126398425	+	In_Frame_Ins	INS	-	-	ATATAAATATTAGTGTCAAAAGATTACATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398424_126398425insATATAAATATTAGTGTCAAAAGATTACATT	ENST00000394329.3	+	13	12421_12422	c.12408_12409insATATAAATATTAGTGTCAAAAGATTACATT	c.(12409-12411)ttt>ATATAAATATTAGTGTCAAAAGATTACATTttt	p.4136_4137insI*ILVSKDYI	FAT4_ENST00000335110.5_In_Frame_Ins_p.2399_2400insI*ILVSKDYI	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTATAATGGAGTTTGCAGTCAA	0.426																																						ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12409-12411)ttt>ATATAAATATTAGTGTCAAAAGATTACATTttt		FAT atypical cadherin 4																																				SO:0001652	inframe_insertion	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126398424_126398425insATATAAATATTAGTGTCAAAAGATTACATT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126398424_126398425insATATAAATATTAGTGTCAAAAGATTACATT	ENSP00000377862:p.Glu4136_Phe4137insIle*IleLeuValSerLysAspTyrIle	True	False		Somatic	0				FAT4_ENST00000335110.5_In_Frame_Ins_p.2399_2400insI*ILVSKDYI	p.4136_4137insI*ILVSKDYI	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			13	12421_12422	+			4136			Laminin G-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	In_Frame_Ins	INS	ENST00000394329.3	37	c.12408_12409insATATAAATATTAGTGTCAAAAGATTACATT	CCDS3732.3																																																																																				0.426	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126398424
C4orf33	132321	broad.mit.edu	37	4	130030728	130030729	+	Frame_Shift_Ins	INS	-	-	GGGCTTACACTTTAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:130030728_130030729insGGGCTTACACTTTAAA	ENST00000281146.5	+	5	1116_1117	c.395_396insGGGCTTACACTTTAAA	c.(394-399)ttcaatfs	p.FN132fs	C4orf33_ENST00000425929.1_Frame_Shift_Ins_p.FN132fs|C4orf33_ENST00000502887.1_Frame_Shift_Ins_p.FN132fs	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	132										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAATTCAATTCATTTG	0.386																																						ENST00000281146.4		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(394-399)ttcaatfs		chromosome 4 open reading frame 33																																				SO:0001589	frameshift_variant	132321							g.chr4:130030728_130030729insGGGCTTACACTTTAAA	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	Exception_encountered	4.37:g.130030728_130030729insGGGCTTACACTTTAAA	ENSP00000281146:p.Phe132fs	True	False		Somatic	0				C4orf33_ENST00000502887.1_Frame_Shift_Ins_p.FN132fs|C4orf33_ENST00000425929.1_Frame_Shift_Ins_p.FN132fs	p.FN132fs	NM_173487.2	NP_775758.2	WXS	Illumina HiSeq	Phase_I	Q8N1A6	CD033_HUMAN			5	1116_1117	+			132					D3DNY2|Q6PJF3|Q8NBC5	Frame_Shift_Ins	INS	ENST00000281146.5	37	c.395_396insGGGCTTACACTTTAAA	CCDS3741.1																																																																																				0.386	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	0	NM_173487		4:130030728
ETFDH	2110	broad.mit.edu	37	4	159603486	159603487	+	In_Frame_Ins	INS	-	-	TAAAAATTCTGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:159603486_159603487insTAAAAATTCTGG	ENST00000511912.1	+	3	647_648	c.315_316insTAAAAATTCTGG	c.(316-318)gct>TAAAAATTCTGGgct	p.105_106ins*KFW	ETFDH_ENST00000307738.5_In_Frame_Ins_p.58_59ins*KFW	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	105					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAGTGGAGAAAGCTGCCCAGAT	0.495																																						ENST00000307738.5		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(175-177)gct>TAAAAATTCTGGgct		electron-transferring-flavoprotein dehydrogenase																																				SO:0001652	inframe_insertion	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159603486_159603487insTAAAAATTCTGG	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	Exception_encountered	4.37:g.159603486_159603487insTAAAAATTCTGG	ENSP00000426638:p.Lys105_Ala106ins*LysPheTrp	True	False		Somatic	0				ETFDH_ENST00000511912.1_In_Frame_Ins_p.105_106ins*KFW	p.58_59ins*KFW			WXS	Illumina HiSeq	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	2	292_293	+	all_hematologic(180;0.24)	Renal(120;0.0458)	105					B4E3R9|J3KND9|Q7Z347	In_Frame_Ins	INS	ENST00000511912.1	37	c.174_175insTAAAAATTCTGG	CCDS3800.1																																																																																				0.495	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	0			4:159603486
LRP2BP	55805	broad.mit.edu	37	4	186299395	186299396	+	De_novo_Start_InFrame	INS	-	-	CCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:186299395_186299396insCCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	ENST00000328559.7	-	0	756_757				LRP2BP_ENST00000362004.3_De_novo_Start_InFrame|LRP2BP_ENST00000510776.1_De_novo_Start_InFrame|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTGGTAGAAATTTCTTCCTCCA	0.416																																						ENST00000328559.7		NA																	0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15								LRP2 binding protein																																						55805					cytoplasm	protein binding	g.chr4:186299395_186299396insCCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460		4.37:g.186299395_186299396insCCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA		True	False		Somatic	0				LRP2BP_ENST00000362004.3_De_novo_Start_InFrame|LRP2BP_ENST00000510776.1_De_novo_Start_InFrame|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron		NM_018409.3	NP_060879.2	WXS	Illumina HiSeq	Phase_I	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	0	756_757	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	NA					A6NJR7|A7E219|B3KX83|Q9NSN6	Translation_Start_Site	INS	ENST00000328559.7	37		CCDS3840.1																																																																																				0.416	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	0	NM_018409		4:186299395
PKD2	5311	broad.mit.edu	37	4	88996747	88996748	+	Frame_Shift_Ins	INS	-	-	AATCTGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88996747_88996748insAATCTGTA	ENST00000508588.1	+	10	1457_1458	c.1062_1063insAATCTGTA	c.(1063-1065)ggtfs	p.G355fs	PKD2_ENST00000502363.1_Frame_Shift_Ins_p.G355fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.G937fs|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGACTAAATGGTCAACCTCG	0.52																																						ENST00000508588.1		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1063-1065)ggtfs		polycystic kidney disease 2 (autosomal dominant)																																				SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88996747_88996748insAATCTGTA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	Exception_encountered	4.37:g.88996747_88996748insAATCTGTA	ENSP00000427131:p.Gly355fs	False	False		Somatic	0				PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.G355fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.G937fs	p.G355fs			WXS	Illumina HiSeq	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	10	1457_1458	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	937					Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Ins	INS	ENST00000508588.1	37	c.1062_1063insAATCTGTA																																																																																					0.520	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	0	NM_000297		4:88996747
CLDN22	53842	broad.mit.edu	37	4	184240911	184240912	+	Frame_Shift_Ins	INS	-	-	CTGTTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:184240911_184240912insCTGTTCA	ENST00000323319.5	-	1	1015_1016	c.460_461insTGAACAG	c.(460-462)ccafs	p.P154fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	154					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GACAAAGTCTGGGACGTTCTCA	0.594																																						ENST00000323319.5		NA																	0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						c.(460-462)ccafs		claudin 22																																				SO:0001589	frameshift_variant	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184240911_184240912insCTGTTCA	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.460_461insTGAACAG	4.37:g.184240911_184240912insCTGTTCA	ENSP00000318113:p.Pro154fs	True	False		Somatic	0				WWC2_ENST00000403733.3_3'UTR	p.P154fs	NM_001111319.1	NP_001104789.1	WXS	Illumina HiSeq	Phase_I	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	1015_1016	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	154						Frame_Shift_Ins	INS	ENST00000323319.5	37	c.460_461insTGAACAG	CCDS43286.1																																																																																				0.594	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1	0			4:184240911
MTNR1A	4543	broad.mit.edu	37	4	187455491	187455492	+	Frame_Shift_Ins	INS	-	-	TCCCCATGATCATAGTCATCTTCTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:187455491_187455492insTCCCCATGATCATAGTCATCTTCTGT	ENST00000307161.5	-	2	605_606	c.404_405insACAGAAGATGACTATGATCATGGGGA	c.(403-405)tacfs	p.Y135fs	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	135					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACAGTTTGTCGTACTTGAGACT	0.579																																						ENST00000307161.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(403-405)tacfs		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)																																			SO:0001589	frameshift_variant	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455491_187455492insTCCCCATGATCATAGTCATCTTCTGT		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.404_405insACAGAAGATGACTATGATCATGGGGA	4.37:g.187455491_187455492insTCCCCATGATCATAGTCATCTTCTGT	ENSP00000302811:p.Tyr135fs	False	False		Somatic	0				RP11-215A19.2_ENST00000509111.1_Intron	p.Y135fs	NM_005958.3	NP_005949.1	WXS	Illumina HiSeq	Phase_I	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	605_606	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	135					A0AVC5|B0M0L2	Frame_Shift_Ins	INS	ENST00000307161.5	37	c.404_405insACAGAAGATGACTATGATCATGGGGA	CCDS3848.1																																																																																				0.579	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1	0			4:187455491
ADCY2	108	broad.mit.edu	37	5	7706988	7706989	+	In_Frame_Ins	INS	-	-	TTTTCCCAGTATTTTATTATT	rs75986905	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:7706988_7706989insTTTTCCCAGTATTTTATTATT	ENST00000338316.4	+	8	1330_1331	c.1241_1242insTTTTCCCAGTATTTTATTATT	c.(1240-1245)aaccac>aaTTTTCCCAGTATTTTATTATTccac	p.414_415NH>NFPSILLFH	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_In_Frame_Ins_p.234_235NH>NFPSILLFH	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	414					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTTGGCCAACCACATGGAAG	0.5																																						ENST00000338316.4		NA																	0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1240-1245)aaccac>aaTTTTCCCAGTATTTTATTATTccac		adenylate cyclase 2 (brain)																																				SO:0001652	inframe_insertion	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706988_7706989insTTTTCCCAGTATTTTATTATT	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	Exception_encountered	5.37:g.7706988_7706989insTTTTCCCAGTATTTTATTATT	ENSP00000342952:p.Asn414_His415insPheProSerIleLeuLeuPhe	False	False		Somatic	0				ADCY2_ENST00000537121.1_In_Frame_Ins_p.234_235NH>NFPSILLFH	p.414_415NH>NFPSILLFH	NM_020546.2	NP_065433.2	WXS	Illumina HiSeq	Phase_I	Q08462	ADCY2_HUMAN			8	1330_1331	+			414					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	In_Frame_Ins	INS	ENST00000338316.4	37	c.1241_1242insTTTTCCCAGTATTTTATTATT	CCDS3872.2																																																																																				0.500	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	0	NM_020546		5:7706988
TAS2R1	50834	broad.mit.edu	37	5	9629445	9629446	+	In_Frame_Ins	INS	-	-	TTCAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:9629445_9629446insTTCAAA	ENST00000382492.2	-	1	1017_1018	c.699_700insTTTGAA	c.(697-702)ttcctg>ttcTTTGAActg	p.233_234FL>FFEL	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	233					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGAGGATCAGGAAGGACAGGA	0.505																																						ENST00000382492.2		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(697-702)ttcctg>ttcTTTGAActg		taste receptor, type 2, member 1																																				SO:0001652	inframe_insertion	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629445_9629446insTTCAAA	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.699_700insTTTGAA	5.37:g.9629445_9629446insTTCAAA	ENSP00000371932:p.Phe233_Leu234insPheGlu	True	False		Somatic	0				CTD-2001E22.1_ENST00000504182.2_RNA	p.233_234FL>FFEL	NM_019599.2	NP_062545.1	WXS	Illumina HiSeq	Phase_I	Q9NYW7	TA2R1_HUMAN			1	1017_1018	-			233					Q646G8	In_Frame_Ins	INS	ENST00000382492.2	37	c.699_700insTTTGAA	CCDS3876.1																																																																																				0.505	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	0			5:9629445
NIPBL	25836	broad.mit.edu	37	5	36985240	36985241	+	In_Frame_Ins	INS	-	-	GGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:36985240_36985241insGGT	ENST00000282516.8	+	10	2457_2458	c.1958_1959insGGT	c.(1957-1962)cagaat>caGGTgaat	p.653_654QN>QVN	NIPBL_ENST00000448238.2_In_Frame_Ins_p.653_654QN>QVN|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	653					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTTAAACAGAATGAGAGCA	0.351																																						ENST00000282516.8		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1957-1962)cagaat>caGGTgaat		Nipped-B homolog (Drosophila)																																				SO:0001652	inframe_insertion	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985240_36985241insGGT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	Exception_encountered	5.37:g.36985240_36985241insGGT	ENSP00000282516:p.Gln653_Asn654insVal	False	False		Somatic	0				NIPBL_ENST00000448238.2_In_Frame_Ins_p.653_654QN>QVN|NIPBL_ENST00000504430.1_3'UTR	p.653_654QN>QVN	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina HiSeq	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2457_2458	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		653					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	In_Frame_Ins	INS	ENST00000282516.8	37	c.1958_1959insGGT	CCDS3920.1																																																																																				0.351	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	0	NM_015384		5:36985240
MROH2B	133558	broad.mit.edu	37	5	41061821	41061822	+	Frame_Shift_Ins	INS	-	-	TTCTCTTTGTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41061821_41061822insTTCTCTTTGTG	ENST00000399564.4	-	6	915_916	c.465_466insCACAAAGAGAA	c.(463-468)cttgagfs	p.E156fs		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	156																	CTGAATTTCTCAAGGGCTGCAT	0.401																																						ENST00000399564.4		NA																	0					NA						c.(463-468)cttgagfs		maestro heat-like repeat family member 2B																																				SO:0001589	frameshift_variant	133558							g.chr5:41061821_41061822insTTCTCTTTGTG		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.465_466insCACAAAGAGAA	5.37:g.41061821_41061822insTTCTCTTTGTG	ENSP00000382476:p.Glu156fs	False	False		Somatic	0					p.E156fs	NM_173489.4	NP_775760.3	WXS	Illumina HiSeq	Phase_I					6	915_916	-			NA					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	ENST00000399564.4	37	c.465_466insCACAAAGAGAA	CCDS47202.1																																																																																				0.401	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	0	NM_173489		5:41061821
MROH2B	133558	broad.mit.edu	37	5	41061822	41061823	+	Frame_Shift_Ins	INS	-	-	CATGATAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41061822_41061823insCATGATAATT	ENST00000399564.4	-	6	914_915	c.464_465insAATTATCATG	c.(463-465)cttfs	p.-155fs		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B																		TGAATTTCTCAAGGGCTGCATT	0.401																																						ENST00000399564.4		NA																	0					NA						c.(463-465)cttfs		maestro heat-like repeat family member 2B																																				SO:0001589	frameshift_variant	133558							g.chr5:41061822_41061823insCATGATAATT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.464_465insAATTATCATG	5.37:g.41061822_41061823insCATGATAATT	ENSP00000382476:p.Leu155fs	True	False		Somatic	0					p.-155fs	NM_173489.4	NP_775760.3	WXS	Illumina HiSeq	Phase_I					6	914_915	-			NA					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	ENST00000399564.4	37	c.464_465insAATTATCATG	CCDS47202.1																																																																																				0.401	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	0	NM_173489		5:41061822
C5orf51	285636	broad.mit.edu	37	5	41917303	41917304	+	Frame_Shift_Ins	INS	-	-	GAAACCGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917303_41917304insGAAACCGT	ENST00000381647.2	+	6	806_807	c.787_788insGAAACCGT	c.(787-789)aagfs	p.K263fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	263										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATCTTGAAAAAGTATGTATCT	0.386																																						ENST00000381647.2		NA																	0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(787-789)aagfs		chromosome 5 open reading frame 51																																				SO:0001589	frameshift_variant	285636							g.chr5:41917303_41917304insGAAACCGT	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	Exception_encountered	5.37:g.41917303_41917304insGAAACCGT	ENSP00000371061:p.Lys263fs	True	False		Somatic	0					p.K263fs	NM_175921.4	NP_787117.3	WXS	Illumina HiSeq	Phase_I	A6NDU8	CE051_HUMAN			6	806_807	+			263					A2RRM9	Frame_Shift_Ins	INS	ENST00000381647.2	37	c.787_788insGAAACCGT	CCDS34151.1																																																																																				0.386	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	0	NM_175921		5:41917303
C5orf51	285636	broad.mit.edu	37	5	41917305	41917306	+	Frame_Shift_Ins	INS	-	-	TTATTAAC	rs149416451		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917305_41917306insTTATTAAC	ENST00000381647.2	+	6	808_809	c.789_790insTTATTAAC	c.(790-792)tatfs	p.Y264fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	264										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTGAAAAAGTATGTATCTGT	0.386																																						ENST00000381647.2		NA																	0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(790-792)tatfs		chromosome 5 open reading frame 51																																				SO:0001589	frameshift_variant	285636							g.chr5:41917305_41917306insTTATTAAC	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	Exception_encountered	5.37:g.41917305_41917306insTTATTAAC	ENSP00000371061:p.Tyr264fs	True	False		Somatic	0					p.Y264fs	NM_175921.4	NP_787117.3	WXS	Illumina HiSeq	Phase_I	A6NDU8	CE051_HUMAN			6	808_809	+			264					A2RRM9	Frame_Shift_Ins	INS	ENST00000381647.2	37	c.789_790insTTATTAAC	CCDS34151.1																																																																																				0.386	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	0	NM_175921		5:41917305
ZNF131	7690	broad.mit.edu	37	5	43174940	43174941	+	Frame_Shift_Ins	INS	-	-	CGCTCTGAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:43174940_43174941insCGCTCTGAAAT	ENST00000399534.1	+	7	1621_1622	c.1577_1578insCGCTCTGAAAT	c.(1576-1581)gaagtgfs	p.EV526fs	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000509156.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000509634.1_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000505606.2_Frame_Shift_Ins_p.EV492fs			P52739	ZN131_HUMAN	zinc finger protein 131	526					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGTTATCTAGAAGTGGGCCGAA	0.485																																						ENST00000509634.1		NA																	0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1474-1479)gaagtgfs		zinc finger protein 131																																				SO:0001589	frameshift_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174940_43174941insCGCTCTGAAAT	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	Exception_encountered	5.37:g.43174940_43174941insCGCTCTGAAAT	ENSP00000382450:p.Glu526fs	False	False		Somatic	0				ZNF131_ENST00000509156.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000399534.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000505606.2_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000306938.4_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000509931.1_Intron	p.EV492fs			WXS	Illumina HiSeq	Phase_I	P52739	ZN131_HUMAN			7	1931_1932	+			526					B4DRL3|Q6PIF0	Frame_Shift_Ins	INS	ENST00000399534.1	37	c.1475_1476insCGCTCTGAAAT																																																																																					0.485	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	0	NM_003432		5:43174940
SLC38A9	153129	broad.mit.edu	37	5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929718_54929719insTAAA	ENST00000396865.2	-	14	1884_1885	c.1293_1294insTTTA	c.(1291-1296)gacaacfs	p.N432fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386																																						ENST00000512595.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1102-1107)gacaacfs		solute carrier family 38, member 9																																				SO:0001589	frameshift_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929718_54929719insTAAA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1293_1294insTTTA	5.37:g.54929718_54929719insTAAA	ENSP00000380074:p.Asn432fs	False	False		Somatic	0				SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs	p.N369fs	NM_001258287.1	NP_001245216.1	WXS	Illumina HiSeq	Phase_I	Q8NBW4	S38A9_HUMAN			12	1279_1280	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	432					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Frame_Shift_Ins	INS	ENST00000396865.2	37	c.1104_1105insTTTA	CCDS3968.1																																																																																				0.386	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	0	NM_173514		5:54929718
SLC38A9	153129	broad.mit.edu	37	5	54929720	54929721	+	Frame_Shift_Ins	INS	-	-	GTGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929720_54929721insGTGA	ENST00000396865.2	-	14	1882_1883	c.1291_1292insTCAC	c.(1291-1293)gacfs	p.D431fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.D368fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Frame_Shift_Ins_p.D368fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.D307fs	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AGGGAAGTTGTCTAAAAAATTC	0.386																																						ENST00000512595.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1102-1104)gacfs		solute carrier family 38, member 9																																				SO:0001589	frameshift_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929720_54929721insGTGA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1291_1292insTCAC	5.37:g.54929720_54929721insGTGA	ENSP00000380074:p.Asp431fs	False	False		Somatic	0				SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.D368fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.D307fs	p.D368fs	NM_001258287.1	NP_001245216.1	WXS	Illumina HiSeq	Phase_I	Q8NBW4	S38A9_HUMAN			12	1277_1278	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	431					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Frame_Shift_Ins	INS	ENST00000396865.2	37	c.1102_1103insTCAC	CCDS3968.1																																																																																				0.386	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	0	NM_173514		5:54929720
DDX4	54514	broad.mit.edu	37	5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAATTTAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:55075881_55075882insAAATTTAATT	ENST00000505374.1	+	8	576_577	c.484_485insAAATTTAATT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000354991.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|RNA5SP183_ENST00000362452.1_RNA	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	162	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGATTTGGTCTAGGAAGTCCA	0.371																																						ENST00000505374.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(484-486)ctafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4																																				SO:0001589	frameshift_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075881_55075882insAAATTTAATT	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	Exception_encountered	5.37:g.55075881_55075882insAAATTTAATT	ENSP00000424838:p.Leu162fs	False	False		Somatic	0				DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron	p.L162fs	NM_024415.2	NP_077726.1	WXS	Illumina HiSeq	Phase_I	Q9NQI0	DDX4_HUMAN			8	576_577	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	162			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Frame_Shift_Ins	INS	ENST00000505374.1	37	c.484_485insAAATTTAATT	CCDS3969.1																																																																																				0.371	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	0	NM_024415		5:55075881
BDP1	55814	broad.mit.edu	37	5	70805614	70805615	+	In_Frame_Ins	INS	-	-	GACTTGGTTAAGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:70805614_70805615insGACTTGGTTAAGTTT	ENST00000358731.4	+	17	2958_2959	c.2695_2696insGACTTGGTTAAGTTT	c.(2695-2697)gag>gGACTTGGTTAAGTTTag	p.899_899E>GLG*V*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	899	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATAGAAATGGAGACAGGTCTG	0.406																																						ENST00000358731.4		NA																	0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2695-2697)gag>gGACTTGGTTAAGTTTag		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001652	inframe_insertion	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805614_70805615insGACTTGGTTAAGTTT	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	Exception_encountered	5.37:g.70805614_70805615insGACTTGGTTAAGTTT	ENSP00000351575:p.Glu899delinsGlyLeuGly*Val*	False	False		Somatic	0				BDP1_ENST00000380675.2_5'UTR	p.899_899E>GLG*V*	NM_018429.2	NP_060899.2	WXS	Illumina HiSeq	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	2958_2959	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	899			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	In_Frame_Ins	INS	ENST00000358731.4	37	c.2695_2696insGACTTGGTTAAGTTT	CCDS43328.1																																																																																				0.406	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	NM_018429		5:70805614
POLR3G	10622	broad.mit.edu	37	5	89802405	89802406	+	In_Frame_Ins	INS	-	-	TTTACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:89802405_89802406insTTTACT	ENST00000399107.1	+	7	699_700	c.499_500insTTTACT	c.(499-501)agc>aTTTACTgc	p.167_167S>IYC	POLR3G_ENST00000504930.1_In_Frame_Ins_p.167_167S>IYC	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	167	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gaaagaaggaagcaaagagaaa	0.376																																						ENST00000399107.1		NA																	0				cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9						c.(499-501)agc>aTTTACTgc		polymerase (RNA) III (DNA directed) polypeptide G (32kD)																																				SO:0001652	inframe_insertion	10622				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	g.chr5:89802405_89802406insTTTACT	U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	Exception_encountered	5.37:g.89802405_89802406insTTTACT	ENSP00000382058:p.Ser167delinsIleTyrCys	True	False		Somatic	0				POLR3G_ENST00000504930.1_In_Frame_Ins_p.167_167S>IYC	p.167_167S>IYC	NM_006467.2	NP_006458.2	WXS	Illumina HiSeq	Phase_I	O15318	RPC7_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	7	699_700	+		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	167			Glu-rich.		A8MTH0	In_Frame_Ins	INS	ENST00000399107.1	37	c.499_500insTTTACT	CCDS43337.1																																																																																				0.376	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	0	NM_006467		5:89802405
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14185-14190)gattatfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90086832_90086833insAAACTCAACAAAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.90086832_90086833insAAACTCAACAAAG	ENSP00000384582:p.Asp4729fs	False	False		Somatic	0				GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	p.DY4729fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14282_14283	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4729			Calx-beta 32.		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.14186_14187insAAACTCAACAAAG	CCDS47246.1																																																																																				0.441	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:90086832
PCDHGB3	56102	broad.mit.edu	37	5	140750973	140750974	+	In_Frame_Ins	INS	-	-	CGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140750973_140750974insCGG	ENST00000576222.1	+	1	1143_1144	c.1012_1013insCGG	c.(1012-1014)tca>tCGGca	p.338_339insA	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATATTTCAGATGAAAAT	0.446																																						ENST00000576222.1		NA																	0				endometrium(1)|kidney(1)|lung(3)	5						c.(1012-1014)tca>tCGGca																																						SO:0001652	inframe_insertion	0							g.chr5:140750973_140750974insCGG	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		Exception_encountered	5.37:g.140750973_140750974insCGG	ENSP00000461862:p.Ser338_Asp339insAla	True	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.338_339insA	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1143_1144	+			NA					A7E229|Q9Y5C7	In_Frame_Ins	INS	ENST00000576222.1	37	c.1012_1013insCGG	CCDS58980.1																																																																																				0.446	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	0	NM_018924		5:140750973
SPINK5	11005	broad.mit.edu	37	5	147498129	147498130	+	Splice_Site	INS	-	-	TTTG	rs533651431		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:147498129_147498130insTTTG	ENST00000256084.7	+	23	2282		c.e23+2		SPINK5_ENST00000398454.1_Splice_Site|SPINK5_ENST00000359874.3_Splice_Site	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAATTGTAAGTATTTCTC	0.386																																						ENST00000359874.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.e23+2		serine peptidase inhibitor, Kazal type 5																																				SO:0001630	splice_region_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147498129_147498130insTTTG	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2240+2->TTTG	5.37:g.147498129_147498130insTTTG		False	False		Somatic	0				SPINK5_ENST00000398454.1_Splice_Site|SPINK5_ENST00000256084.7_Splice_Site		NM_001127698.1	NP_001121170.1	WXS	Illumina HiSeq	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		23	2313	+			NA					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Splice_Site	INS	ENST00000256084.7	37		CCDS43382.1																																																																																				0.386	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	0	NM_001127698	Intron	5:147498129
KIF4B	285643	broad.mit.edu	37	5	154395088	154395089	+	In_Frame_Ins	INS	-	-	GGCTGC	rs371522101		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395088_154395089insGGCTGC	ENST00000435029.4	+	1	1829_1830	c.1669_1670insGGCTGC	c.(1669-1671)tac>tGGCTGCac	p.557_557Y>WLH		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGTTTCAATACCAGGATAAC	0.401																																						ENST00000435029.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1669-1671)tac>tGGCTGCac		kinesin family member 4B																																				SO:0001652	inframe_insertion	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395088_154395089insGGCTGC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	Exception_encountered	5.37:g.154395088_154395089insGGCTGC	ENSP00000387875:p.Tyr557delinsTrpLeuHis	False	False		Somatic	0					p.557_557Y>WLH	NM_001099293.1	NP_001092763.1	WXS	Illumina HiSeq	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1829_1830	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	557						In_Frame_Ins	INS	ENST00000435029.4	37	c.1669_1670insGGCTGC	CCDS47324.1																																																																																				0.401	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	0			5:154395088
KIF4B	285643	broad.mit.edu	37	5	154395089	154395090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395089_154395090insG	ENST00000435029.4	+	1	1830_1831	c.1670_1671insG	c.(1669-1674)taccagfs	p.YQ557fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTTCAATACCAGGATAACA	0.406																																						ENST00000435029.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1669-1674)taccagfs		kinesin family member 4B																																				SO:0001589	frameshift_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395089_154395090insG	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	Exception_encountered	5.37:g.154395089_154395090insG	ENSP00000387875:p.Tyr557fs	False	False		Somatic	0					p.YQ557fs	NM_001099293.1	NP_001092763.1	WXS	Illumina HiSeq	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1830_1831	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	557						Frame_Shift_Ins	INS	ENST00000435029.4	37	c.1670_1671insG	CCDS47324.1																																																																																				0.406	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	0			5:154395089
DRD1	1812	broad.mit.edu	37	5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGT	rs550657704		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:174869195_174869196insATGT	ENST00000393752.2	-	2	1899_1900	c.907_908insACAT	c.(907-909)acgfs	p.T303fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	303					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGGGCTGCGTCTCCCCAGAC	0.475																																						ENST00000393752.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(907-909)acgfs		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)																																			SO:0001589	frameshift_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869195_174869196insATGT	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.907_908insACAT	5.37:g.174869195_174869196insATGT	ENSP00000377353:p.Thr303fs	False	False		Somatic	0					p.T303fs	NM_000794.3	NP_000785.1	WXS	Illumina HiSeq	Phase_I	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1899_1900	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	303					B2RA44|Q4QRJ0	Frame_Shift_Ins	INS	ENST00000393752.2	37	c.907_908insACAT	CCDS4393.1																																																																																				0.475	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	0	NM_000794		5:174869195
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
DSP	1832	broad.mit.edu	37	6	7579947	7579948	+	In_Frame_Ins	INS	-	-	TTCTTTTATTTGGCCGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7579947_7579948insTTCTTTTATTTGGCCGTA	ENST00000379802.3	+	23	3865_3866	c.3524_3525insTTCTTTTATTTGGCCGTA	c.(3523-3528)agggtt>agTTCTTTTATTTGGCCGTAggtt	p.1175_1175R>SSFIWP*	DSP_ENST00000418664.2_In_Frame_Ins_p.1175_1175R>SSFIWP*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1175	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAGGTTGAGGGTTCTACTGC	0.431																																						ENST00000379802.3		NA																	0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3523-3528)agggtt>agTTCTTTTATTTGGCCGTAggtt		desmoplakin																																				SO:0001652	inframe_insertion	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579947_7579948insTTCTTTTATTTGGCCGTA	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	Exception_encountered	6.37:g.7579947_7579948insTTCTTTTATTTGGCCGTA	ENSP00000369129:p.Arg1175delinsSerSerPheIleTrpPro*	True	False		Somatic	0				DSP_ENST00000418664.2_In_Frame_Ins_p.1175_1175R>SSFIWP*	p.1175_1175R>SSFIWP*	NM_004415.2	NP_004406.2	WXS	Illumina HiSeq	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3865_3866	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1175			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	In_Frame_Ins	INS	ENST00000379802.3	37	c.3524_3525insTTCTTTTATTTGGCCGTA	CCDS4501.1																																																																																				0.431	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	0	NM_004415		6:7579947
PRL	5617	broad.mit.edu	37	6	22287805	22287806	+	Frame_Shift_Ins	INS	-	-	GAGAAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287805_22287806insGAGAAGG	ENST00000306482.1	-	5	1027_1028	c.509_510insCCTTCTC	c.(508-510)aaafs	p.K170fs	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TCTCATTTTCTTTGGTTTCAGG	0.391																																						ENST00000306482.1		NA																	0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(508-510)aaafs		prolactin																																				SO:0001589	frameshift_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22287805_22287806insGAGAAGG	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.509_510insCCTTCTC	6.37:g.22287805_22287806insGAGAAGG	ENSP00000302150:p.Lys170fs	True	False		Somatic	0				RP3-404K8.2_ENST00000561912.1_RNA	p.K170fs	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	WXS	Illumina HiSeq	Phase_I	P01236	PRL_HUMAN			5	1027_1028	-	Ovarian(93;0.163)		170					Q15199|Q92996	Frame_Shift_Ins	INS	ENST00000306482.1	37	c.509_510insCCTTCTC	CCDS4548.1																																																																																				0.391	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	0	NM_000948		6:22287805
PRL	5617	broad.mit.edu	37	6	22287806	22287807	+	In_Frame_Ins	INS	-	-	CCTTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287806_22287807insCCTTAA	ENST00000306482.1	-	5	1026_1027	c.508_509insTTAAGG	c.(508-510)aaa>aTTAAGGaa	p.170_170K>IKE	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTTTCTTTGGTTTCAGGA	0.386																																						ENST00000306482.1		NA																	0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(508-510)aaa>aTTAAGGaa		prolactin																																				SO:0001652	inframe_insertion	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22287806_22287807insCCTTAA	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.508_509insTTAAGG	6.37:g.22287806_22287807insCCTTAA	ENSP00000302150:p.Lys170delinsIleLysGlu	True	False		Somatic	0				RP3-404K8.2_ENST00000561912.1_RNA	p.170_170K>IKE	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	WXS	Illumina HiSeq	Phase_I	P01236	PRL_HUMAN			5	1026_1027	-	Ovarian(93;0.163)		170					Q15199|Q92996	In_Frame_Ins	INS	ENST00000306482.1	37	c.508_509insTTAAGG	CCDS4548.1																																																																																				0.386	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	0	NM_000948		6:22287806
PGBD1	84547	broad.mit.edu	37	6	28269868	28269869	+	In_Frame_Ins	INS	-	-	CTCATTGTTTTC	rs115398017	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:28269868_28269869insCTCATTGTTTTC	ENST00000405948.2	+	7	2657_2658	c.2237_2238insCTCATTGTTTTC	c.(2236-2241)atttcg>atCTCATTGTTTTCttcg	p.747_748insLFSS	PGBD1_ENST00000259883.3_In_Frame_Ins_p.747_748insLFSS	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GATCAAATTATTTCGAAATACA	0.381																																						ENST00000405948.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2236-2241)atttcg>atCTCATTGTTTTCttcg		piggyBac transposable element derived 1																																				SO:0001652	inframe_insertion	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269868_28269869insCTCATTGTTTTC	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28269868_28269869insCTCATTGTTTTC	ENSP00000385213:p.Ser747_Lys748insLeuPheSerSer	True	False		Somatic	0				PGBD1_ENST00000259883.3_In_Frame_Ins_p.747_748insLFSS	p.747_748insLFSS	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina HiSeq	Phase_I	Q96JS3	PGBD1_HUMAN			7	2657_2658	+			747					Q53F43|Q6NTF5|Q8WWS4	In_Frame_Ins	INS	ENST00000405948.2	37	c.2237_2238insCTCATTGTTTTC	CCDS4648.1																																																																																				0.381	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	0			6:28269868
TRIM39	56658	broad.mit.edu	37	6	30297278	30297279	+	Frame_Shift_Ins	INS	-	-	AAATAAAAATATTAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30297278_30297279insAAATAAAAATATTAATT	ENST00000396547.1	+	2	344_345	c.184_185insAAATAAAAATATTAATT	c.(184-186)aggfs	p.R62fs	TRIM39_ENST00000540416.1_Frame_Shift_Ins_p.R62fs|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000396551.3_Frame_Shift_Ins_p.R62fs|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000376656.4_Frame_Shift_Ins_p.R62fs|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376659.5_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396548.1_Frame_Shift_Ins_p.R62fs|HCG18_ENST00000413358.2_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	62					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGACCTAGAGAGGGACTTCCCT	0.545																																						ENST00000376659.5		NA																	0				ovary(3)	3						c.(184-186)aggfs		tripartite motif containing 39																																				SO:0001589	frameshift_variant	56658							g.chr6:30297278_30297279insAAATAAAAATATTAATT	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	Exception_encountered	6.37:g.30297278_30297279insAAATAAAAATATTAATT	ENSP00000379796:p.Arg62fs	True	False		Somatic	0				TRIM39_ENST00000396551.3_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396547.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000540416.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000376656.4_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396548.1_Frame_Shift_Ins_p.R62fs	p.R62fs	NM_172016.2	NP_742013.1	WXS	Illumina HiSeq	Phase_I					3	782_783	+			NA					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Frame_Shift_Ins	INS	ENST00000396547.1	37	c.184_185insAAATAAAAATATTAATT	CCDS34377.1																																																																																				0.545	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	0	NM_172016		6:30297278
ZNF318	24149	broad.mit.edu	37	6	43322608	43322609	+	In_Frame_Ins	INS	-	-	AAATTTGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:43322608_43322609insAAATTTGTA	ENST00000361428.2	-	4	2540_2541	c.2463_2464insTACAAATTT	c.(2461-2466)ataatg>ataTACAAATTTatg	p.821_822IM>IYKFM	ZNF318_ENST00000318149.3_In_Frame_Ins_p.821_822IM>IYKFM	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	821					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTATTGGCATTATCCTGTGTG	0.51																																						ENST00000361428.2		NA																	0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2461-2466)ataatg>ataTACAAATTTatg		zinc finger protein 318																																				SO:0001652	inframe_insertion	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322608_43322609insAAATTTGTA	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2463_2464insTACAAATTT	6.37:g.43322608_43322609insAAATTTGTA	ENSP00000354964:p.Ile821_Met822insTyrLysPhe	False	False		Somatic	0				ZNF318_ENST00000318149.3_In_Frame_Ins_p.821_822IM>IYKFM	p.821_822IM>IYKFM	NM_014345.2	NP_055160.2	WXS	Illumina HiSeq	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2540_2541	-			821					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	In_Frame_Ins	INS	ENST00000361428.2	37	c.2463_2464insTACAAATTT	CCDS4895.2																																																																																				0.510	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	0	NM_014345		6:43322608
TDRD6	221400	broad.mit.edu	37	6	46657989	46657990	+	Frame_Shift_Ins	INS	-	-	TCTTTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:46657989_46657990insTCTTTTT	ENST00000316081.6	+	1	2124_2125	c.2124_2125insTCTTTTT	c.(2125-2127)aaafs	p.K709fs	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.K709fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	709					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGAGAGCAGAAAGCCAAGAG	0.406																																						ENST00000316081.6		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2125-2127)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657989_46657990insTCTTTTT	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	Exception_encountered	6.37:g.46657989_46657990insTCTTTTT	ENSP00000346065:p.Lys709fs	True	False		Somatic	0				TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.K709fs	p.K709fs	NM_001010870.2	NP_001010870.1	WXS	Illumina HiSeq	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2124_2125	+			709					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.2124_2125insTCTTTTT	CCDS34470.1																																																																																				0.406	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	0	XM_166443		6:46657989
PHF3	23469	broad.mit.edu	37	6	64401885	64401886	+	In_Frame_Ins	INS	-	-	TGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:64401885_64401886insTGG	ENST00000262043.3	+	5	2788_2789	c.2448_2449insTGG	c.(2449-2451)aaa>TGGaaa	p.816_817insW	PHF3_ENST00000393387.1_In_Frame_Ins_p.816_817insW			Q92576	PHF3_HUMAN	PHD finger protein 3	816					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGATAGAACCAAATATATAGA	0.317																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3		NA																	0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2449-2451)aaa>TGGaaa		PHD finger protein 3																																				SO:0001652	inframe_insertion	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401885_64401886insTGG	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	Exception_encountered	6.37:g.64401885_64401886insTGG	ENSP00000262043:p.Thr816_Lys817insTrp	True	False		Somatic	0				PHF3_ENST00000393387.1_In_Frame_Ins_p.816_817insW	p.816_817insW			WXS	Illumina HiSeq	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		5	2788_2789	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		816					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	In_Frame_Ins	INS	ENST00000262043.3	37	c.2448_2449insTGG	CCDS4966.1																																																																																				0.317	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0			6:64401885
FHL5	9457	broad.mit.edu	37	6	97058549	97058550	+	In_Frame_Ins	INS	-	-	ATTCTTTTGAGATCCTAGTATCTC	rs200306734		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:97058549_97058550insATTCTTTTGAGATCCTAGTATCTC	ENST00000326771.2	+	6	986_987	c.606_607insATTCTTTTGAGATCCTAGTATCTC	c.(607-609)tcc>ATTCTTTTGAGATCCTAGTATCTCtcc	p.202_203insILLRS*YL	FHL5_ENST00000541107.1_In_Frame_Ins_p.202_203insILLRS*YL	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	202	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AACAGTTCATGTCCAGAGACGA	0.436																																						ENST00000326771.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(607-609)tcc>ATTCTTTTGAGATCCTAGTATCTCtcc		four and a half LIM domains 5																																				SO:0001652	inframe_insertion	9457					nucleus	zinc ion binding	g.chr6:97058549_97058550insATTCTTTTGAGATCCTAGTATCTC	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	Exception_encountered	6.37:g.97058549_97058550insATTCTTTTGAGATCCTAGTATCTC	ENSP00000326022:p.Met202_Ser203insIleLeuLeuArgSer*TyrLeu	False	False		Somatic	0				FHL5_ENST00000541107.1_In_Frame_Ins_p.202_203insILLRS*YL	p.202_203insILLRS*YL	NM_020482.4	NP_065228.4	WXS	Illumina HiSeq	Phase_I	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	986_987	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	202			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	In_Frame_Ins	INS	ENST00000326771.2	37	c.606_607insATTCTTTTGAGATCCTAGTATCTC	CCDS5035.1																																																																																				0.436	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	0	NM_020482		6:97058549
USP45	85015	broad.mit.edu	37	6	99936632	99936633	+	Frame_Shift_Ins	INS	-	-	TTTGTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:99936632_99936633insTTTGTTTA	ENST00000327681.6	-	6	1074_1075	c.542_543insTAAACAAA	c.(541-543)ggafs	p.-181fs	USP45_ENST00000369233.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000472914.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000329966.6_Frame_Shift_Ins_p.-181fs|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000500704.2_Frame_Shift_Ins_p.-181fs	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGCATTTTCCTCCCTTCTGTAT	0.317																																						ENST00000327681.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(541-543)ggafs		ubiquitin specific peptidase 45																																				SO:0001589	frameshift_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99936632_99936633insTTTGTTTA	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.542_543insTAAACAAA	6.37:g.99936632_99936633insTTTGTTTA	ENSP00000333376:p.Gly181fs	True	False		Somatic	0				USP45_ENST00000472914.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000329966.5_Frame_Shift_Ins_p.-181fs|USP45_ENST00000369233.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000500704.2_Frame_Shift_Ins_p.-181fs	p.-181fs	NM_001080481.1	NP_001073950.1	WXS	Illumina HiSeq	Phase_I	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	6	1074_1075	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	NA					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Frame_Shift_Ins	INS	ENST00000327681.6	37	c.542_543insTAAACAAA	CCDS34501.1																																																																																				0.317	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	0	NM_032929		6:99936632
LIN28B	389421	broad.mit.edu	37	6	105406148	105406149	+	Frame_Shift_Ins	INS	-	-	GCATTCAAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:105406148_105406149insGCATTCAAAG	ENST00000345080.4	+	2	388_389	c.185_186insGCATTCAAAG	c.(184-189)gtatttfs	p.F63fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	63	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CCAGTCGATGTATTTGTACACC	0.46																																						ENST00000345080.4		NA																	0				large_intestine(1)|lung(10)|ovary(1)	12						c.(184-189)gtatttfs		lin-28 homolog B (C. elegans)																																				SO:0001589	frameshift_variant	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406148_105406149insGCATTCAAAG	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	Exception_encountered	6.37:g.105406148_105406149insGCATTCAAAG	ENSP00000344401:p.Phe63fs	True	False		Somatic	0					p.F63fs	NM_001004317.3	NP_001004317.1	WXS	Illumina HiSeq	Phase_I	Q6ZN17	LN28B_HUMAN			2	388_389	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	63			CSD.		A1L165|B2RPN6|Q5TCM4	Frame_Shift_Ins	INS	ENST00000345080.4	37	c.185_186insGCATTCAAAG	CCDS34504.1																																																																																				0.460	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	0	NM_001004317		6:105406148
ARMC2	84071	broad.mit.edu	37	6	109225509	109225510	+	Frame_Shift_Ins	INS	-	-	CTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:109225509_109225510insCTTC	ENST00000392644.4	+	8	1092_1093	c.924_925insCTTC	c.(925-927)aaafs	p.K309fs	ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.K144fs	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	309										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGCTTGGAAATAAATTTAAGGG	0.391																																						ENST00000392644.4		NA																	0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(925-927)aaafs		armadillo repeat containing 2																																				SO:0001589	frameshift_variant	84071						binding	g.chr6:109225509_109225510insCTTC	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	Exception_encountered	6.37:g.109225509_109225510insCTTC	ENSP00000376417:p.Lys309fs	True	False		Somatic	0				ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.K144fs	p.K309fs	NM_032131.4	NP_115507.4	WXS	Illumina HiSeq	Phase_I	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	8	1092_1093	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	309					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Frame_Shift_Ins	INS	ENST00000392644.4	37	c.924_925insCTTC	CCDS5069.2																																																																																				0.391	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	0	NM_032131		6:109225509
GPRC6A	222545	broad.mit.edu	37	6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-	rs78807485		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs|GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	517					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302																																						ENST00000310357.3		NA																	0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(1549-1551)gca>ca		G protein-coupled receptor, family C, group 6, member A																																				SO:0001630	splice_region_variant	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117116998_117116999delGC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1549-1GC>-	6.37:g.117116998_117116999delGC		False	False		Somatic	1				GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	p.A517fs	NM_148963.2	NP_683766.2	WXS	Illumina HiSeq	Phase_I	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	5	1570	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	517					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Splice_Site	DEL	ENST00000310357.3	37	c.1549delGC	CCDS5112.1																																																																																				0.302	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	0		Frame_Shift_Del	6:117116998
THEMIS	387357	broad.mit.edu	37	6	128134170	128134171	+	Frame_Shift_Ins	INS	-	-	TGCAATGA	rs181749766		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134170_128134171insTGCAATGA	ENST00000368248.2	-	4	1763_1764	c.1615_1616insTCATTGCA	c.(1615-1617)caafs	p.Q539fs	THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.Q504fs|THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000368250.1_Frame_Shift_Ins_p.Q460fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	539					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q539K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATGTAATATTGCTCTTCAGTG	0.465																																						ENST00000368250.1		NA																	1	Substitution - Missense(1)	p.Q539K(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1378-1380)caafs		thymocyte selection associated																																				SO:0001589	frameshift_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134170_128134171insTGCAATGA	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1615_1616insTCATTGCA	6.37:g.128134170_128134171insTGCAATGA	ENSP00000357231:p.Gln539fs	False	False		Somatic	0				THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.Q504fs	p.Q460fs			WXS	Illumina HiSeq	Phase_I	Q8N1K5	THMS1_HUMAN			5	1876_1877	-			539			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Ins	INS	ENST00000368248.2	37	c.1378_1379insTCATTGCA	CCDS34534.1																																																																																				0.465	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_001010923		6:128134170
L3MBTL3	84456	broad.mit.edu	37	6	130370494	130370495	+	In_Frame_Ins	INS	-	-	GTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:130370494_130370495insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	ENST00000529410.1	+	6	649_650	c.170_171insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	c.(169-174)aaagca>aaGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATATagca	p.57_58KA>KCSGKSLII*WLTHIA	L3MBTL3_ENST00000526019.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000533560.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000368136.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000368139.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000361794.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	57					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATGTTAAAAAAGCAACTGCTA	0.371																																						ENST00000529410.1		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(169-174)aaagca>aaGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATATagca		l(3)mbt-like 3 (Drosophila)																																				SO:0001652	inframe_insertion	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130370494_130370495insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	Exception_encountered	6.37:g.130370494_130370495insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	ENSP00000431962:p.Lys57_Ala58insCysSerGlyLysSerLeuIleIle*TrpLeuThrHisIle	True	False		Somatic	0				L3MBTL3_ENST00000368139.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000533560.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000368136.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000526019.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000361794.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA	p.57_58KA>KCSGKSLII*WLTHIA			WXS	Illumina HiSeq	Phase_I	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	6	649_650	+			57					Q4VXE1|Q5VUM9|Q6P9B5	In_Frame_Ins	INS	ENST00000529410.1	37	c.170_171insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	CCDS34537.1																																																																																				0.371	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	0	XM_027074		6:130370494
CCDC170	80129	broad.mit.edu	37	6	151936742	151936743	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:151936742_151936743insACAA	ENST00000239374.7	+	10	1974_1975	c.1875_1876insACAA	c.(1876-1878)atafs	p.I626fs	CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.I633fs|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	626																	CCAGAAACATGATAGAAGTGGT	0.406																																						ENST00000239374.7		NA																	0					NA						c.(1876-1878)atafs		coiled-coil domain containing 170																																				SO:0001589	frameshift_variant	80129							g.chr6:151936742_151936743insACAA	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	Exception_encountered	6.37:g.151936742_151936743insACAA	ENSP00000239374:p.Ile626fs	False	False		Somatic	0				CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.I633fs	p.I626fs	NM_025059.3	NP_079335.2	WXS	Illumina HiSeq	Phase_I	Q8IYT3	CF097_HUMAN			10	1974_1975	+			626					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Frame_Shift_Ins	INS	ENST00000239374.7	37	c.1875_1876insACAA	CCDS43515.1																																																																																				0.406	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	0	NM_025059		6:151936742
CCDC170	80129	broad.mit.edu	37	6	151936744	151936745	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:151936744_151936745insC	ENST00000239374.7	+	10	1976_1977	c.1877_1878insC	c.(1876-1881)atagaafs	p.E627fs	CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.E634fs|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	627																	AGAAACATGATAGAAGTGGTAA	0.401																																						ENST00000239374.7		NA																	0					NA						c.(1876-1881)atagaafs		coiled-coil domain containing 170																																				SO:0001589	frameshift_variant	80129							g.chr6:151936744_151936745insC	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	Exception_encountered	6.37:g.151936744_151936745insC	ENSP00000239374:p.Glu627fs	False	False		Somatic	0				CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.E634fs	p.E627fs	NM_025059.3	NP_079335.2	WXS	Illumina HiSeq	Phase_I	Q8IYT3	CF097_HUMAN			10	1976_1977	+			627					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Frame_Shift_Ins	INS	ENST00000239374.7	37	c.1877_1878insC	CCDS43515.1																																																																																				0.401	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	0	NM_025059		6:151936744
SCAF8	22828	broad.mit.edu	37	6	155153893	155153894	+	Frame_Shift_Ins	INS	-	-	TTCTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:155153893_155153894insTTCTG	ENST00000367178.3	+	20	3756_3757	c.3180_3181insTTCTG	c.(3181-3183)ggafs	p.G1061fs	SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.G1127fs|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.G1061fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1061	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GGGATCATTTTGGAAGACCTCC	0.495																																						ENST00000367178.3		NA																	0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(3181-3183)ggafs		SR-related CTD-associated factor 8																																				SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153893_155153894insTTCTG	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	Exception_encountered	6.37:g.155153893_155153894insTTCTG	ENSP00000356146:p.Gly1061fs	True	False		Somatic	0				SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.G1061fs|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.G1127fs	p.G1061fs	NM_014892.3	NP_055707.3	WXS	Illumina HiSeq	Phase_I	Q9UPN6	SCAF8_HUMAN			20	3756_3757	+			1061			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Ins	INS	ENST00000367178.3	37	c.3180_3181insTTCTG	CCDS5247.1																																																																																				0.495	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	0	NM_014892		6:155153893
IGF2R	3482	broad.mit.edu	37	6	160464224	160464225	+	Frame_Shift_Ins	INS	-	-	GCACAAAAATTCAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:160464224_160464225insGCACAAAAATTCAC	ENST00000356956.1	+	12	1673_1674	c.1525_1526insGCACAAAAATTCAC	c.(1525-1527)acafs	p.T509fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	509					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCAGACGGAAACAGAGAAGAAG	0.47																																						ENST00000356956.1		NA																	0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1525-1527)acafs		insulin-like growth factor 2 receptor																																				SO:0001589	frameshift_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464224_160464225insGCACAAAAATTCAC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	Exception_encountered	6.37:g.160464224_160464225insGCACAAAAATTCAC	ENSP00000349437:p.Thr509fs	True	False		Somatic	0					p.T509fs	NM_000876.2	NP_000867.2	WXS	Illumina HiSeq	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	12	1673_1674	+		Breast(66;0.000777)|Ovarian(120;0.0305)	509					Q7Z7G9|Q96PT5	Frame_Shift_Ins	INS	ENST00000356956.1	37	c.1525_1526insGCACAAAAATTCAC	CCDS5273.1																																																																																				0.470	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	0	NM_000876		6:160464224
C1GALT1	56913	broad.mit.edu	37	7	7283351	7283352	+	Frame_Shift_Ins	INS	-	-	CAGGTATTGTTAATAAACAGCACATTGCTAGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7283351_7283352insCAGGTATTGTTAATAAACAGCACATTGCTAGC	ENST00000223122.3	+	3	1147_1148	c.1085_1086insCAGGTATTGTTAATAAACAGCACATTGCTAGC	c.(1084-1089)aatcctfs	p.P363fs	C1GALT1_ENST00000436587.2_Frame_Shift_Ins_p.P363fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	363					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAGTTAGGAAATCCTTGAAAGA	0.342																																						ENST00000223122.2		NA																	0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(1084-1089)aatcctfs		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1																																				SO:0001589	frameshift_variant	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283351_7283352insCAGGTATTGTTAATAAACAGCACATTGCTAGC	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	Exception_encountered	7.37:g.7283351_7283352insCAGGTATTGTTAATAAACAGCACATTGCTAGC	ENSP00000223122:p.Pro363fs	True	False		Somatic	0				C1GALT1_ENST00000436587.2_Frame_Shift_Ins_p.P363fs	p.P363fs			WXS	Illumina HiSeq	Phase_I	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	1147_1148	+			363					Q96QH4|Q9BTU1	Frame_Shift_Ins	INS	ENST00000223122.3	37	c.1085_1086insCAGGTATTGTTAATAAACAGCACATTGCTAGC	CCDS5355.1																																																																																				0.342	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	0	NM_020156		7:7283351
COL28A1	340267	broad.mit.edu	37	7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7398398_7398399insCAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATAAGTTGTAAATACTCAGTATACACTCAAATATAGTGCTGTATTTGTATTG	c.(3241-3246)tgtggtfs	p.CG1081fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1081	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391																																						ENST00000399429.3		NA																	0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(3241-3246)tgtggtfs		collagen, type XXVIII, alpha 1																																				SO:0001589	frameshift_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7398398_7398399insCAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3243_3244insATAAGTTGTAAATACTCAGTATACACTCAAATATAGTGCTGTATTTGTATTG	7.37:g.7398398_7398399insCAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	ENSP00000382356:p.Cys1081fs	False	False		Somatic	0					p.CG1081fs	NM_001037763.2	NP_001032852.2	WXS	Illumina HiSeq	Phase_I	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	35	3383_3384	-		Ovarian(82;0.0789)	1081			BPTI/Kunitz inhibitor.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Frame_Shift_Ins	INS	ENST00000399429.3	37	c.3243_3244insATAAGTTGTAAATACTCAGTATACACTCAAATATAGTGCTGTATTTGTATTG	CCDS43553.1																																																																																				0.391	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	0	NM_001037763		7:7398398
ITGB8	3696	broad.mit.edu	37	7	20418768	20418769	+	Frame_Shift_Ins	INS	-	-	CATCACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:20418768_20418769insCATCACA	ENST00000222573.4	+	4	1167_1168	c.483_484insCATCACA	c.(484-486)aatfs	p.N162fs	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Frame_Shift_Ins_p.N27fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	162	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATGCACAATAATATAGAAAA	0.347																																						ENST00000222573.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(484-486)aatfs		integrin, beta 8																																				SO:0001589	frameshift_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418768_20418769insCATCACA		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	Exception_encountered	7.37:g.20418768_20418769insCATCACA	ENSP00000222573:p.Asn162fs	False	False		Somatic	0				ITGB8_ENST00000537992.1_Frame_Shift_Ins_p.N27fs	p.N162fs	NM_002214.2	NP_002205.1	WXS	Illumina HiSeq	Phase_I	P26012	ITB8_HUMAN			4	1167_1168	+			162			VWFA.		A4D133|B4DHD4	Frame_Shift_Ins	INS	ENST00000222573.4	37	c.483_484insCATCACA	CCDS5370.1																																																																																				0.347	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	0	NM_002214		7:20418768
TAX1BP1	8887	broad.mit.edu	37	7	27856107	27856108	+	In_Frame_Ins	INS	-	-	AAATATTTCATAAATACAGCAGTATTAAACATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:27856107_27856108insAAATATTTCATAAATACAGCAGTATTAAACATT	ENST00000396319.2	+	14	1992_1993	c.1904_1905insAAATATTTCATAAATACAGCAGTATTAAACATT	c.(1903-1908)tatggt>taAAATATTTCATAAATACAGCAGTATTAAACATTtggt	p.635_635Y>*NIS*IQQY*TF	TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_In_Frame_Ins_p.659_659Y>*NIS*IQQY*TF	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	635					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTTCTGCAATATGGTAATCCTT	0.366																																						ENST00000396319.2		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1903-1908)tatggt>taAAATATTTCATAAATACAGCAGTATTAAACATTtggt		Tax1 (human T-cell leukemia virus type I) binding protein 1																																				SO:0001652	inframe_insertion	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856107_27856108insAAATATTTCATAAATACAGCAGTATTAAACATT	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	Exception_encountered	7.37:g.27856107_27856108insAAATATTTCATAAATACAGCAGTATTAAACATT	ENSP00000379612:p.Tyr635delins*AsnIleSer*IleGlnGlnTyr*ThrPhe	False	False		Somatic	0				TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_In_Frame_Ins_p.659_659Y>*NIS*IQQY*TF	p.635_635Y>*NIS*IQQY*TF	NM_006024.6	NP_006015.4	WXS	Illumina HiSeq	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	1992_1993	+			635					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	In_Frame_Ins	INS	ENST00000396319.2	37	c.1904_1905insAAATATTTCATAAATACAGCAGTATTAAACATT	CCDS5415.1																																																																																				0.366	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	NM_006024		7:27856107
BMPER	168667	broad.mit.edu	37	7	34125581	34125582	+	In_Frame_Ins	INS	-	-	CTTGAGATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:34125581_34125582insCTTGAGATG	ENST00000297161.2	+	14	1996_1997	c.1622_1623insCTTGAGATG	c.(1621-1626)ccagtg>ccCTTGAGATGagtg	p.541_542PV>PLR*V	BMPER_ENST00000426693.1_In_Frame_Ins_p.541_542PV>PLR*V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	541	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGAAAGCCAGTGCCTGAAC	0.49																																						ENST00000297161.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1621-1626)ccagtg>ccCTTGAGATGagtg		BMP binding endothelial regulator																																				SO:0001652	inframe_insertion	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125581_34125582insCTTGAGATG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	Exception_encountered	7.37:g.34125581_34125582insCTTGAGATG	ENSP00000297161:p.Pro541_Val542insLeuArg*	False	False		Somatic	0				BMPER_ENST00000426693.1_In_Frame_Ins_p.541_542PV>PLR*V	p.541_542PV>PLR*V	NM_133468.4	NP_597725.1	WXS	Illumina HiSeq	Phase_I	Q8N8U9	BMPER_HUMAN			14	1996_1997	+			541			VWFD.		A8K1P8|Q8TF36	In_Frame_Ins	INS	ENST00000297161.2	37	c.1622_1623insCTTGAGATG	CCDS5442.1																																																																																				0.490	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	0	NM_133468		7:34125581
CDK13	8621	broad.mit.edu	37	7	40102653	40102654	+	Frame_Shift_Ins	INS	-	-	ACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:40102653_40102654insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	ENST00000181839.4	+	9	3339_3340	c.2734_2735insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	c.(2734-2736)cctfs	p.P912fs	CDK13_ENST00000340829.5_Frame_Shift_Ins_p.P912fs|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	912	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACTAAAAAACCTATATTTCAA	0.347																																						ENST00000181839.4		NA																	0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2734-2736)cctfs		cyclin-dependent kinase 13																																				SO:0001589	frameshift_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102653_40102654insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	Exception_encountered	7.37:g.40102653_40102654insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	ENSP00000181839:p.Pro912fs	False	False		Somatic	0				CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Frame_Shift_Ins_p.P912fs	p.P912fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	WXS	Illumina HiSeq	Phase_I	Q14004	CDK13_HUMAN			9	3339_3340	+			912			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Ins	INS	ENST00000181839.4	37	c.2734_2735insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	CCDS5461.1																																																																																				0.347	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	0	NM_003718		7:40102653
PPIA	5478	broad.mit.edu	37	7	44839374	44839375	+	In_Frame_Ins	INS	-	-	TAAACC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839374_44839375insTAAACC	ENST00000468812.1	+	4	308_309	c.263_264insTAAACC	c.(262-267)ttcatc>ttTAAACCcatc	p.88_89FI>FKPI	PPIA_ENST00000355968.6_In_Frame_Ins_p.28_29FI>FKPI|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_In_Frame_Ins_p.28_29FI>FKPI|PPIA_ENST00000451562.1_In_Frame_Ins_p.88_89FI>FKPI	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	88	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.			I -> T (in Ref. 8; AAH05982). {ECO:0000305}.	blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GATGAGAACTTCATCCTAAAGC	0.465																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	ENST00000468812.1		NA																	0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(262-267)ttcatc>ttTAAACCcatc		peptidylprolyl isomerase A (cyclophilin A)	Cyclosporine(DB00091)|L-Proline(DB00172)																																			SO:0001652	inframe_insertion	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44839374_44839375insTAAACC	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	Exception_encountered	7.37:g.44839374_44839375insTAAACC	ENSP00000419425:p.Phe88_Ile89insLysPro	False	False		Somatic	0				PPIA_ENST00000355968.6_In_Frame_Ins_p.28_29FI>FKPI|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_In_Frame_Ins_p.88_89FI>FKPI|PPIA_ENST00000489459.1_In_Frame_Ins_p.28_29FI>FKPI	p.88_89FI>FKPI	NM_021130.3	NP_066953.1	WXS	Illumina HiSeq	Phase_I	P62937	PPIA_HUMAN			4	308_309	+			88			PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	In_Frame_Ins	INS	ENST00000468812.1	37	c.263_264insTAAACC	CCDS5494.1																																																																																				0.465	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	0	NM_021130		7:44839374
PPIA	5478	broad.mit.edu	37	7	44839376	44839377	+	Frame_Shift_Ins	INS	-	-	AGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	rs17850033		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839376_44839377insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	ENST00000468812.1	+	4	310_311	c.265_266insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	c.(265-267)atcfs	p.I89fs	PPIA_ENST00000355968.6_Frame_Shift_Ins_p.I29fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_Frame_Shift_Ins_p.I29fs|PPIA_ENST00000451562.1_Frame_Shift_Ins_p.I89fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	89	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.			I -> T (in Ref. 8; AAH05982). {ECO:0000305}.	blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	TGAGAACTTCATCCTAAAGCAT	0.46																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	ENST00000468812.1		NA																	0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(265-267)atcfs		peptidylprolyl isomerase A (cyclophilin A)	Cyclosporine(DB00091)|L-Proline(DB00172)																																			SO:0001589	frameshift_variant	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44839376_44839377insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	Exception_encountered	7.37:g.44839376_44839377insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	ENSP00000419425:p.Ile89fs	False	False		Somatic	0				PPIA_ENST00000355968.6_Frame_Shift_Ins_p.I29fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Frame_Shift_Ins_p.I89fs|PPIA_ENST00000489459.1_Frame_Shift_Ins_p.I29fs	p.I89fs	NM_021130.3	NP_066953.1	WXS	Illumina HiSeq	Phase_I	P62937	PPIA_HUMAN			4	310_311	+			89	I -> T (in Ref. 5; AAH05982).		PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Frame_Shift_Ins	INS	ENST00000468812.1	37	c.265_266insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	CCDS5494.1																																																																																				0.460	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	0	NM_021130		7:44839376
KMT2E	55904	broad.mit.edu	37	7	104717571	104717572	+	Frame_Shift_Ins	INS	-	-	CTTACGGACTT	rs199977896		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:104717571_104717572insCTTACGGACTT	ENST00000311117.3	+	10	1475_1476	c.930_931insCTTACGGACTT	c.(931-933)aatfs	p.N311fs	KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	311					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TAGGCAATGGAAATGACAAAAA	0.371																																						ENST00000311117.3		NA																	0					NA						c.(931-933)aatfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104717571_104717572insCTTACGGACTT	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	Exception_encountered	7.37:g.104717571_104717572insCTTACGGACTT	ENSP00000312379:p.Asn311fs	True	False		Somatic	0				KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs	p.N311fs	NM_182931.2	NP_891847.1	WXS	Illumina HiSeq	Phase_I					10	1475_1476	+			NA					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.930_931insCTTACGGACTT	CCDS34723.1																																																																																				0.371	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1	0			7:104717571
RINT1	60561	broad.mit.edu	37	7	105187701	105187702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187701_105187702insC	ENST00000257700.2	+	6	991_992	c.760_761insC	c.(760-762)ttafs	p.L254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACTGTTGGCTTAAGTCGACCT	0.426																																						ENST00000257700.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(760-762)ttafs		RAD50 interactor 1																																				SO:0001589	frameshift_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105187701_105187702insC	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	Exception_encountered	7.37:g.105187701_105187702insC	ENSP00000257700:p.Leu254fs	False	False		Somatic	0					p.L254fs	NM_021930.4	NP_068749.3	WXS	Illumina HiSeq	Phase_I	Q6NUQ1	RINT1_HUMAN			6	991_992	+			254			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Frame_Shift_Ins	INS	ENST00000257700.2	37	c.760_761insC	CCDS34726.1																																																																																				0.426	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	0	NM_021930		7:105187701
RINT1	60561	broad.mit.edu	37	7	105187702	105187703	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187702_105187703insCATG	ENST00000257700.2	+	6	992_993	c.761_762insCATG	c.(760-765)ttaagtfs	p.LS254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTTGGCTTAAGTCGACCTG	0.431																																						ENST00000257700.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(760-765)ttaagtfs		RAD50 interactor 1																																				SO:0001589	frameshift_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105187702_105187703insCATG	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	Exception_encountered	7.37:g.105187702_105187703insCATG	ENSP00000257700:p.Leu254fs	False	False		Somatic	0					p.LS254fs	NM_021930.4	NP_068749.3	WXS	Illumina HiSeq	Phase_I	Q6NUQ1	RINT1_HUMAN			6	992_993	+			254			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Frame_Shift_Ins	INS	ENST00000257700.2	37	c.761_762insCATG	CCDS34726.1																																																																																				0.431	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	0	NM_021930		7:105187702
PPP1R3A	5506	broad.mit.edu	37	7	113517921	113517922	+	Frame_Shift_Ins	INS	-	-	TTAACCCCAAACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:113517921_113517922insTTAACCCCAAACA	ENST00000284601.3	-	4	3293_3294	c.3225_3226insTGTTTGGGGTTAA	c.(3223-3228)aaaatafs	p.I1076fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1076					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAATAAGGTATTTTAGAGTTGG	0.356																																						ENST00000284601.3		NA																	0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3223-3228)aaaatafs		protein phosphatase 1, regulatory subunit 3A																																				SO:0001589	frameshift_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113517921_113517922insTTAACCCCAAACA	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3225_3226insTGTTTGGGGTTAA	7.37:g.113517921_113517922insTTAACCCCAAACA	ENSP00000284601:p.Ile1076fs	True	False		Somatic	0					p.I1076fs	NM_002711.3	NP_002702.2	WXS	Illumina HiSeq	Phase_I	Q16821	PPR3A_HUMAN			4	3293_3294	-			1076					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Ins	INS	ENST00000284601.3	37	c.3225_3226insTGTTTGGGGTTAA	CCDS5759.1																																																																																				0.356	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	0	NM_002711		7:113517921
OR2A14	135941	broad.mit.edu	37	7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-	rs66549240|rs34602346	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562														2897	0.578474	0.4652	0.7147	5008	,	,		20883	0.7371		0.4831	False		,,,				2504	0.5695					ENST00000408899.2		NA																	0				large_intestine(4)|lung(17)|skin(1)	22						c.(523-528)cacttc>cac		olfactory receptor, family 2, subfamily A, member 14				1743,2055		447,849,603						4.2	1.0		dbSNP_130	199	4152,3826		1121,1910,958	no	coding	OR2A14	NM_001001659.1		1568,2759,1561	A1A1,A1R,RR		47.9569,45.8926,49.9406				5895,5881				SO:0001651	inframe_deletion	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826730_143826732delCTT		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.525_527delCTT	7.37:g.143826733_143826735delCTT	ENSP00000386137:p.Phe177del	False	False		Somatic	2					p.F177del	NM_001001659.1	NP_001001659.1	WXS	Illumina HiSeq	Phase_I	Q96R47	O2A14_HUMAN			1	580_582	+	Melanoma(164;0.0783)		177	Missing (in Ref. 2; AAK95081).				Q6IF41|Q8NGT8	In_Frame_Del	DEL	ENST00000408899.2	37	c.525_527delCTT	CCDS43672.1																																																																																				0.562	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1	0			7:143826730
CDCA2	157313	broad.mit.edu	37	8	25364303	25364304	+	Frame_Shift_Ins	INS	-	-	TTTTTAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:25364303_25364304insTTTTTAGG	ENST00000330560.3	+	15	2598_2599	c.2121_2122insTTTTTAGG	c.(2122-2124)actfs	p.T708fs	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Frame_Shift_Ins_p.T693fs	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	708					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAAAAGCTGGAACTGACAGTCC	0.371																																						ENST00000330560.3		NA																	0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2122-2124)actfs		cell division cycle associated 2																																				SO:0001589	frameshift_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364303_25364304insTTTTTAGG	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	Exception_encountered	8.37:g.25364303_25364304insTTTTTAGG	ENSP00000328228:p.Thr708fs	False	False		Somatic	0				CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Frame_Shift_Ins_p.T693fs	p.T708fs	NM_152562.2	NP_689775.2	WXS	Illumina HiSeq	Phase_I	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2598_2599	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	708					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Frame_Shift_Ins	INS	ENST00000330560.3	37	c.2121_2122insTTTTTAGG	CCDS6049.1																																																																																				0.371	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	0	NM_152562		8:25364303
SDCBP	6386	broad.mit.edu	37	8	59488620	59488621	+	Splice_Site	INS	-	-	TAACTGGAACTTACTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:59488620_59488621insTAACTGGAACTTACTCA	ENST00000260130.4	+	5	552	c.402_402insTAACTGGAACTTACTCA	c.(403-405)ggt>ggTAACTGGAACTTACTCAt	p.-135fs	SDCBP_ENST00000523483.1_Splice_Site_p.-155fs|SDCBP_ENST00000424270.2_Splice_Site_p.-129fs|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000413219.2_Splice_Site_p.-135fs|SDCBP_ENST00000422546.2_Splice_Site_p.-134fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000447182.2_Splice_Site_p.-134fs	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATAGATAATGTAAGTATTTT	0.267																																						ENST00000523483.1		NA																	0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(463-465)ggt>ggTAACTGGAACTTACTCAt		syndecan binding protein (syntenin)																																				SO:0001630	splice_region_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59488620_59488621insTAACTGGAACTTACTCA	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.402+1->TAACTGGAACTTACTCA	8.37:g.59488620_59488621insTAACTGGAACTTACTCA		False	False		Somatic	0				SDCBP_ENST00000422546.2_Splice_Site_p.-134fs|SDCBP_ENST00000413219.2_Splice_Site_p.-135fs|SDCBP_ENST00000260130.4_Splice_Site_p.-135fs|SDCBP_ENST00000447182.2_Splice_Site_p.-134fs|SDCBP_ENST00000424270.2_Splice_Site_p.-129fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000520168.1_Intron	p.-155fs			WXS	Illumina HiSeq	Phase_I	O00560	SDCB1_HUMAN			6	1976	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	NA					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Splice_Site	INS	ENST00000260130.4	37	c.462_462insTAACTGGAACTTACTCA	CCDS6172.1																																																																																				0.267	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	0	NM_005625	Frame_Shift_Ins	8:59488620
ADHFE1	137872	broad.mit.edu	37	8	67364291	67364292	+	In_Frame_Ins	INS	-	-	GATATATTATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:67364291_67364292insGATATATTATCT	ENST00000396623.3	+	9	869_870	c.838_839insGATATATTATCT	c.(838-840)gac>gGATATATTATCTac	p.280_280D>GYIIY	ADHFE1_ENST00000379385.4_In_Frame_Ins_p.280_280D>GYIIY|ADHFE1_ENST00000415254.1_In_Frame_Ins_p.232_232D>GYIIY|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCAATCAGTGACATTTGGGCT	0.574																																						ENST00000396623.3		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(838-840)gac>gGATATATTATCTac		alcohol dehydrogenase, iron containing, 1																																				SO:0001652	inframe_insertion	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67364291_67364292insGATATATTATCT	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	Exception_encountered	8.37:g.67364291_67364292insGATATATTATCT	ENSP00000379865:p.Asp280delinsGlyTyrIleIleTyr	False	False		Somatic	0				ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_In_Frame_Ins_p.280_280D>GYIIY|ADHFE1_ENST00000415254.1_In_Frame_Ins_p.232_232D>GYIIY	p.280_280D>GYIIY	NM_144650.2	NP_653251.2	WXS	Illumina HiSeq	Phase_I	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		9	869_870	+		Lung NSC(129;0.197)	280					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	In_Frame_Ins	INS	ENST00000396623.3	37	c.838_839insGATATATTATCT	CCDS6190.2																																																																																				0.574	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	0	NM_144650		8:67364291
MCMDC2	157777	broad.mit.edu	37	8	67786577	67786578	+	Frame_Shift_Ins	INS	-	-	AGATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:67786577_67786578insAGATG	ENST00000422365.2	+	3	282_283	c.111_112insAGATG	c.(112-114)gctfs	p.A38fs	MCMDC2_ENST00000492775.1_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000541540.1_Intron|MCMDC2_ENST00000313616.5_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000396592.3_Frame_Shift_Ins_p.A38fs	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	38					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						AACAAAGCTATGCTGTCTATCG	0.312																																						ENST00000422365.2		NA																	0				endometrium(2)|kidney(2)|lung(5)	9						c.(112-114)gctfs		minichromosome maintenance domain containing 2																																				SO:0001589	frameshift_variant	157777				DNA replication		ATP binding|DNA binding	g.chr8:67786577_67786578insAGATG	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	Exception_encountered	8.37:g.67786577_67786578insAGATG	ENSP00000413632:p.Ala38fs	False	False		Somatic	0				MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000313616.5_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000396592.3_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000492775.1_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000541540.1_Intron	p.A38fs	NM_173518.4	NP_775789.3	WXS	Illumina HiSeq	Phase_I	Q4G0Z9	CH045_HUMAN			3	282_283	+			38					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Frame_Shift_Ins	INS	ENST00000422365.2	37	c.111_112insAGATG	CCDS6197.2																																																																																				0.312	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	0	NM_173518		8:67786577
ZHX1	11244	broad.mit.edu	37	8	124267956	124267957	+	Frame_Shift_Ins	INS	-	-	TGGTAGTTTTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:124267956_124267957insTGGTAGTTTTGTT	ENST00000522655.1	-	3	770_771	c.230_231insAACAAAACTACCA	c.(229-231)tttfs	p.F77fs	ZHX1_ENST00000395571.3_Frame_Shift_Ins_p.F77fs|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Frame_Shift_Ins_p.F77fs|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	77					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGAGTTTGAAAAGTACAATA	0.332																																						ENST00000522655.1		NA																	0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(229-231)tttfs		zinc fingers and homeoboxes 1																																				SO:0001589	frameshift_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267956_124267957insTGGTAGTTTTGTT	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.230_231insAACAAAACTACCA	8.37:g.124267956_124267957insTGGTAGTTTTGTT	ENSP00000428821:p.Phe77fs	True	False		Somatic	0				ZHX1_ENST00000395571.3_Frame_Shift_Ins_p.F77fs|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Frame_Shift_Ins_p.F77fs|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.F77fs			WXS	Illumina HiSeq	Phase_I	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	770_771	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		77					Q8IWD8	Frame_Shift_Ins	INS	ENST00000522655.1	37	c.230_231insAACAAAACTACCA	CCDS6342.1																																																																																				0.332	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1	0			8:124267956
PTK2	5747	broad.mit.edu	37	8	141774446	141774447	+	Intron	INS	-	-	TAAAAGTTATTGATACTTACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:141774446_141774447insTAAAAGTTATTGATACTTACTG	ENST00000522684.1	-	15	1407				PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519465.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000395218.2_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCCTGGTATTTCATATAATTA	0.332																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(4-6)aaafs		protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774446_141774447insTAAAAGTTATTGATACTTACTG	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-57->CAGTAAGTATCAATAACTTTTA	8.37:g.141774446_141774447insTAAAAGTTATTGATACTTACTG		True	False		Somatic	0				PTK2_ENST00000522684.1_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519419.1_Intron	p.K2fs			WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		1	175_176	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0					B4E2N6|F5H4S4|Q14291|Q9UD85	Frame_Shift_Ins	INS	ENST00000522684.1	37	c.4_5insCAGTAAGTATCAATAACTTTTA	CCDS6381.1																																																																																				0.332	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774446
GBP3	2635	broad.mit.edu	37	1	89479062	89479063	+	Frame_Shift_Ins	INS	-	-	ACTCATTGTTAAAACTAAA	rs4656077	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89479062_89479063insACTCATTGTTAAAACTAAA	ENST00000370481.4	-	6	893_894	c.673_674insTTTAGTTTTAACAATGAGT	c.(673-675)cggfs	p.R225fs	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	258	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GAAGAACTTCCGGATACAGAGT	0.401																																						ENST00000370481.4		NA																	0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(673-675)cggfs		guanylate binding protein 3																																				SO:0001589	frameshift_variant	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89479062_89479063insACTCATTGTTAAAACTAAA	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.673_674insTTTAGTTTTAACAATGAGT	1.37:g.89479062_89479063insACTCATTGTTAAAACTAAA	ENSP00000359512:p.Arg225fs	False	False		Somatic	0					p.R225fs	NM_018284.2	NP_060754.2	WXS	Illumina HiSeq	Phase_I	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	6	893_894	-		Lung NSC(277;0.123)	225		R -> W (in dbSNP:rs4656077).			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Ins	INS	ENST00000370481.4	37	c.673_674insTTTAGTTTTAACAATGAGT	CCDS717.2																																																																																				0.401	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	0	NM_018284		1:89479062
GBP5	115362	broad.mit.edu	37	1	89732222	89732223	+	Frame_Shift_Ins	INS	-	-	AATTTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89732222_89732223insAATTTAA	ENST00000370459.3	-	6	801_802	c.674_675insTTAAATT	c.(673-675)cagfs	p.Q225fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.Q225fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	225	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GAAAGAACTTCTGTATACACAG	0.366																																						ENST00000370459.3		NA																	0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(673-675)cagfs		guanylate binding protein 5																																				SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732222_89732223insAATTTAA	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.674_675insTTAAATT	1.37:g.89732222_89732223insAATTTAA	ENSP00000359488:p.Gln225fs	False	False		Somatic	0				GBP5_ENST00000343435.5_Frame_Shift_Ins_p.Q225fs|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	p.Q225fs			WXS	Illumina HiSeq	Phase_I	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	801_802	-			225					B2RCE1|Q86TM5	Frame_Shift_Ins	INS	ENST00000370459.3	37	c.674_675insTTAAATT	CCDS722.1																																																																																				0.366	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	0	NM_052942		1:89732222
SMARCA2	6595	broad.mit.edu	37	9	2161789	2161790	+	Frame_Shift_Ins	INS	-	-	TATTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:2161789_2161790insTATTTAT	ENST00000382203.1	+	28	4294_4295	c.4085_4086insTATTTAT	c.(4084-4089)gaaaaafs	p.E1362fs	SMARCA2_ENST00000349721.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000357248.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000382185.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000302401.3_Frame_Shift_Ins_p.E68fs|SMARCA2_ENST00000324954.5_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382194.1_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000382186.1_Frame_Shift_Ins_p.E26fs|RNU2-25P_ENST00000411041.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1362					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAGATGTGGAAAAAGCTAAGA	0.446																																						ENST00000382203.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4084-4089)gaaaaafs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001589	frameshift_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2161789_2161790insTATTTAT	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	Exception_encountered	9.37:g.2161789_2161790insTATTTAT	ENSP00000371638:p.Glu1362fs	True	False		Somatic	0				SMARCA2_ENST00000382186.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382185.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000349721.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000357248.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000302401.3_Frame_Shift_Ins_p.E68fs|SMARCA2_ENST00000324954.5_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382194.1_Frame_Shift_Ins_p.E1362fs	p.E1362fs			WXS	Illumina HiSeq	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	28	4294_4295	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1362					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Ins	INS	ENST00000382203.1	37	c.4085_4086insTATTTAT	CCDS34977.1																																																																																				0.446	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	0	NM_003070		9:2161789
JAK2	3717	broad.mit.edu	37	9	5089799	5089800	+	In_Frame_Ins	INS	-	-	ACAAATAAATTTTATAATTATATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:5089799_5089800insACAAATAAATTTTATAATTATATA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAATAAATTTTATAATTATATA	c.(2698-2700)gaa>ACAAATAAATTTTATAATTATATAgaa	p.899_900insTNKFYNYI	JAK2_ENST00000539801.1_In_Frame_Ins_p.899_900insTNKFYNYI|JAK2_ENST00000544510.1_In_Frame_Ins_p.750_751insTNKFYNYI	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	899	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAGGGAAATTGAAATCCTGAA	0.441		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2698-2700)gaa>ACAAATAAATTTTATAATTATATAgaa		Janus kinase 2																																				SO:0001652	inframe_insertion	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5089799_5089800insACAAATAAATTTTATAATTATATA		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	Exception_encountered	9.37:g.5089799_5089800insACAAATAAATTTTATAATTATATA	ENSP00000371067:p.Ile899_Glu900insThrAsnLysPheTyrAsnTyrIle	True	False		Somatic	0				JAK2_ENST00000544510.1_In_Frame_Ins_p.750_751insTNKFYNYI|JAK2_ENST00000539801.1_In_Frame_Ins_p.899_900insTNKFYNYI	p.899_900insTNKFYNYI	NM_004972.3	NP_004963.1	WXS	Illumina HiSeq	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	20	3191_3192	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	899			Protein kinase 2.		O14636|O75297	In_Frame_Ins	INS	ENST00000381652.3	37	c.2697_2698insACAAATAAATTTTATAATTATATA	CCDS6457.1																																																																																				0.441	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0			9:5089799
NFX1	4799	broad.mit.edu	37	9	33318969	33318970	+	Frame_Shift_Ins	INS	-	-	AGCATACTTGAAGAGAAAATTTCAAAAACAAAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:33318969_33318970insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	ENST00000379540.3	+	9	1812_1813	c.1750_1751insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	c.(1750-1752)tgcfs	p.C584fs	NFX1_ENST00000318524.6_Frame_Shift_Ins_p.C584fs|NFX1_ENST00000379521.4_Frame_Shift_Ins_p.C584fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	584					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTGCCAGCAATGCCCACGGCTC	0.5																																						ENST00000379540.3		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1750-1752)tgcfs		nuclear transcription factor, X-box binding 1																																				SO:0001589	frameshift_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33318969_33318970insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	Exception_encountered	9.37:g.33318969_33318970insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	ENSP00000368856:p.Cys584fs	True	False		Somatic	0				NFX1_ENST00000379521.4_Frame_Shift_Ins_p.C584fs|NFX1_ENST00000318524.6_Frame_Shift_Ins_p.C584fs	p.C584fs	NM_002504.4	NP_002495.2	WXS	Illumina HiSeq	Phase_I	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	9	1812_1813	+			584					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Frame_Shift_Ins	INS	ENST00000379540.3	37	c.1750_1751insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	CCDS6538.1																																																																																				0.500	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1	0			9:33318969
VPS13A	23230	broad.mit.edu	37	9	79981770	79981771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981770_79981771insA	ENST00000360280.3	+	61	8713_8714	c.8453_8454insA	c.(8452-8457)gtacaafs	p.Q2819fs	VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.Q2780fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGACAGATGTACAAGATGTAG	0.307																																						ENST00000360280.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8452-8457)gtacaafs		vacuolar protein sorting 13 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79981770_79981771insA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8454dupA	9.37:g.79981771_79981771dupA	ENSP00000353422:p.Gln2819fs	False	False		Somatic	1				VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.Q2780fs	p.Q2819fs	NM_033305.2	NP_150648.2	WXS	Illumina HiSeq	Phase_I	Q96RL7	VP13A_HUMAN			61	8713_8714	+			2819					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Ins	INS	ENST00000360280.3	37	c.8453_8454insA	CCDS6655.1																																																																																				0.307	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	NM_015186		9:79981770
VPS13A	23230	broad.mit.edu	37	9	79981772	79981773	+	In_Frame_Ins	INS	-	-	TAAAAAGATAAAGAGATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981772_79981773insTAAAAAGATAAAGAGATA	ENST00000360280.3	+	61	8715_8716	c.8455_8456insTAAAAAGATAAAGAGATA	c.(8455-8457)caa>cTAAAAAGATAAAGAGATAaa	p.2819_2819Q>LKR*RDK	VPS13A_ENST00000376634.4_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000357409.5_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376636.3_In_Frame_Ins_p.2780_2780Q>LKR*RDK	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAGATGTACAAGATGTAGTT	0.302																																						ENST00000360280.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8455-8457)caa>cTAAAAAGATAAAGAGATAaa		vacuolar protein sorting 13 homolog A (S. cerevisiae)																																				SO:0001652	inframe_insertion	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79981772_79981773insTAAAAAGATAAAGAGATA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	Exception_encountered	9.37:g.79981772_79981773insTAAAAAGATAAAGAGATA	ENSP00000353422:p.Gln2819delinsLeuLysArg*ArgAspLys	False	False		Somatic	0				VPS13A_ENST00000357409.5_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376634.4_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376636.3_In_Frame_Ins_p.2780_2780Q>LKR*RDK	p.2819_2819Q>LKR*RDK	NM_033305.2	NP_150648.2	WXS	Illumina HiSeq	Phase_I	Q96RL7	VP13A_HUMAN			61	8715_8716	+			2819					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	In_Frame_Ins	INS	ENST00000360280.3	37	c.8455_8456insTAAAAAGATAAAGAGATA	CCDS6655.1																																																																																				0.302	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	NM_015186		9:79981772
OR13C2	392376	broad.mit.edu	37	9	107367665	107367666	+	Frame_Shift_Del	DEL	GC	GC	-	rs377668801|rs143760725|rs144815315|rs140970710	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:107367665_107367666delGC	ENST00000542196.1	-	1	285_286	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGCTCACTAGCGTGGAGGGAA	0.515														1574	0.314297	0.4138	0.2003	5008	,	,		20880	0.4097		0.16	False		,,,				2504	0.3211					ENST00000542196.1		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(241-246)acgctafs		olfactory receptor, family 13, subfamily C, member 2				2387,1861		730,927,467						2.2	0.0		dbSNP_134	35	1565,6681		171,1223,2729	no	frameshift	OR13C2	NM_001004481.1		901,2150,3196	A1A1,A1R,RR		18.9789,43.8089,31.6312				3952,8542				SO:0001589	frameshift_variant	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367665_107367666delGC		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.243_244delGC	9.37:g.107367665_107367666delGC	ENSP00000438815:p.Leu82fs	False	False		Somatic	1					p.L82fs	NM_001004481.1	NP_001004481.1	WXS	Illumina HiSeq	Phase_I	Q8NGS9	O13C2_HUMAN			1	285_286	-			82					B9EGV8|Q6IF54	Frame_Shift_Del	DEL	ENST00000542196.1	37	c.243_244delGC	CCDS35092.1																																																																																				0.515	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	0	NM_001004481		9:107367665
TNC	3371	broad.mit.edu	37	9	117846544	117846545	+	Frame_Shift_Ins	INS	-	-	AGAGCCTAGAATTAAGTCCATAGAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:117846544_117846545insAGAGCCTAGAATTAAGTCCATAGAAT	ENST00000350763.4	-	4	2485_2486	c.2074_2075insATTCTATGGACTTAATTCTAGGCTCT	c.(2074-2076)gtafs	p.V692fs	TNC_ENST00000345230.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.V692fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.V692fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.V692fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	692	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GATGGCAAATACACGGATAAAG	0.569																																						ENST00000341037.4		NA																	0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2074-2076)gtafs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846544_117846545insAGAGCCTAGAATTAAGTCCATAGAAT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2074_2075insATTCTATGGACTTAATTCTAGGCTCT	9.37:g.117846544_117846545insAGAGCCTAGAATTAAGTCCATAGAAT	ENSP00000265131:p.Val692fs	False	False		Somatic	0				TNC_ENST00000537320.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.V692fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000350763.4_Frame_Shift_Ins_p.V692fs	p.V692fs			WXS	Illumina HiSeq	Phase_I	P24821	TENA_HUMAN			3	2202_2203	-			692			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.2074_2075insATTCTATGGACTTAATTCTAGGCTCT	CCDS6811.1																																																																																				0.569	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	NM_002160		9:117846544
PSMB7	5695	broad.mit.edu	37	9	127177168	127177169	+	In_Frame_Ins	INS	-	-	CGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127177168_127177169insCGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	ENST00000259457.3	-	2	121_122	c.108_109insACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCG	c.(106-111)cttcca>cttACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGcca	p.36_37LP>LTPRWASVASTRVPVQH*SP	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_In_Frame_Ins_p.36_37LP>LTPRWASVASTRVPVQH*SP	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CGGACCTTTGGAAGCTTGTATC	0.52																																						ENST00000259457.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(106-111)cttcca>cttACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGcca		proteasome (prosome, macropain) subunit, beta type, 7																																				SO:0001652	inframe_insertion	5695				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177168_127177169insCGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.108_109insACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCG	9.37:g.127177168_127177169insCGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	ENSP00000259457:p.Leu36_Pro37insThrProArgTrpAlaSerValAlaSerThrArgValProValGlnHis*Ser	False	False		Somatic	0				PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_In_Frame_Ins_p.36_37LP>LTPRWASVASTRVPVQH*SP	p.36_37LP>LTPRWASVASTRVPVQH*SP	NM_002799.3	NP_002790.1	WXS	Illumina HiSeq	Phase_I	Q99436	PSB7_HUMAN			2	121_122	-			36					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	In_Frame_Ins	INS	ENST00000259457.3	37	c.108_109insACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCG	CCDS6855.1																																																																																				0.520	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	0	NM_002799		9:127177168
GOLGA1	2800	broad.mit.edu	37	9	127650629	127650630	+	In_Frame_Ins	INS	-	-	ATCTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127650629_127650630insATCTTC	ENST00000373555.4	-	19	2140_2141	c.1807_1808insGAAGAT	c.(1807-1809)gca>gGAAGATca	p.603_603A>GRS	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	603					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCTTCCTGCAGTTGGAAGC	0.535																																						ENST00000373555.4		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1807-1809)gca>gGAAGATca		golgin A1																																				SO:0001652	inframe_insertion	2800					Golgi cisterna membrane		g.chr9:127650629_127650630insATCTTC	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1807_1808insGAAGAT	9.37:g.127650629_127650630insATCTTC	ENSP00000362656:p.Ala603delinsGlyArgSer	False	False		Somatic	0					p.603_603A>GRS	NM_002077.3	NP_002068.1	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			19	2140_2141	-			603					Q5T164|Q8IYZ9	In_Frame_Ins	INS	ENST00000373555.4	37	c.1807_1808insGAAGAT	CCDS6860.1																																																																																				0.535	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077		9:127650629
PRRC2B	84726	broad.mit.edu	37	9	134353999	134354000	+	In_Frame_Ins	INS	-	-	TTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:134353999_134354000insTTT	ENST00000357304.4	+	17	4806_4807	c.4751_4752insTTT	c.(4750-4755)gccgtg>gcTTTcgtg	p.1584_1585AV>AFV	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_In_Frame_Ins_p.890_891AV>AFV|PRRC2B_ENST00000405995.1_In_Frame_Ins_p.890_891AV>AFV	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1584							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGAGCAGGCCGTGCAGGTGA	0.629											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405995.1		NA																	0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2668-2673)gccgtg>gcTTTcgtg		proline-rich coiled-coil 2B																																				SO:0001652	inframe_insertion	84726						protein binding	g.chr9:134353999_134354000insTTT	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	Exception_encountered	9.37:g.134353999_134354000insTTT	ENSP00000349856:p.Ala1584_Val1585insPhe	False	False		Somatic	0	OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000458550.1_In_Frame_Ins_p.890_891AV>AFV|PRRC2B_ENST00000357304.4_In_Frame_Ins_p.1584_1585AV>AFV|PRRC2B_ENST00000372249.1_5'UTR	p.890_891AV>AFV			WXS	Illumina HiSeq	Phase_I	Q5JSZ5	PRC2B_HUMAN			17	2895_2896	+			1584					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	In_Frame_Ins	INS	ENST00000357304.4	37	c.2669_2670insTTT	CCDS48044.1																																																																																				0.629	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:134353999
PTPLA	9200	broad.mit.edu	37	10	17636332	17636333	+	In_Frame_Ins	INS	-	-	GTATATACTTATTAGTACTTTGATTTGACATATGATGTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:17636332_17636333insGTATATACTTATTAGTACTTTGATTTGACATATGATGTG	ENST00000361271.3	-	6	692_693	c.655_656insCACATCATATGTCAAATCAAAGTACTAATAAGTATATAC	c.(655-657)ctt>cCACATCATATGTCAAATCAAAGTACTAATAAGTATATACtt	p.218_219insPHHMSNQSTNKYI		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	218					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTATATTGTAAGAAGTTCACCA	0.307																																						ENST00000361271.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(655-657)ctt>cCACATCATATGTCAAATCAAAGTACTAATAAGTATATACtt		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A																																				SO:0001652	inframe_insertion	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636332_17636333insGTATATACTTATTAGTACTTTGATTTGACATATGATGTG	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.655_656insCACATCATATGTCAAATCAAAGTACTAATAAGTATATAC	10.37:g.17636332_17636333insGTATATACTTATTAGTACTTTGATTTGACATATGATGTG	ENSP00000355308:p.Leu218_Leu219insProHisHisMetSerAsnGlnSerThrAsnLysTyrIle	False	False		Somatic	0					p.218_219insPHHMSNQSTNKYI	NM_014241.3	NP_055056.3	WXS	Illumina HiSeq	Phase_I	B0YJ81	HACD1_HUMAN			6	692_693	-			218					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	In_Frame_Ins	INS	ENST00000361271.3	37	c.655_656insCACATCATATGTCAAATCAAAGTACTAATAAGTATATAC	CCDS7121.1																																																																																				0.307	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	0	NM_014241		10:17636332
YME1L1	10730	broad.mit.edu	37	10	27436497	27436498	+	Frame_Shift_Ins	INS	-	-	AGTCTAGTTTCTTTGTTTGTTTGTTTTATCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:27436497_27436498insAGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	ENST00000326799.3	-	3	416_417	c.268_269insTGATAAAACAAACAAACAAAGAAACTAGACT	c.(268-270)aggfs	p.R90fs	YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.R90fs|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	90					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						cttcttcatcctttttgctggc	0.45																																						ENST00000326799.3		NA																	0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(268-270)aggfs		YME1-like 1 ATPase																																				SO:0001589	frameshift_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436497_27436498insAGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.268_269insTGATAAAACAAACAAACAAAGAAACTAGACT	10.37:g.27436497_27436498insAGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	ENSP00000318480:p.Arg90fs	True	False		Somatic	0				YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.R90fs|YME1L1_ENST00000376016.3_Intron	p.R90fs	NM_139312.2	NP_647473.1	WXS	Illumina HiSeq	Phase_I	Q96TA2	YMEL1_HUMAN			3	416_417	-			90					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Ins	INS	ENST00000326799.3	37	c.268_269insTGATAAAACAAACAAACAAAGAAACTAGACT	CCDS7152.1																																																																																				0.450	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	0	NM_139312		10:27436497
FCN2	2220	broad.mit.edu	37	9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T	rs372072935	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000291744.6	+	1	93	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000350339.2_Missense_Mutation_p.A28V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCTCCAGGCGGCAGACACC	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0					ENST00000350339.2		NA																	0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(82-84)gCg>gTg		ficolin (collagen/fibrinogen domain containing lectin) 2		C	VAL/ALA,VAL/ALA	1,4403	4.2+/-10.8	0,1,2201	33.0	37.0	36.0		83,83	0.8	0.1	9		36	0,8600		0,0,4300	no	missense,missense	FCN2	NM_004108.2,NM_015837.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	28/314,28/276	137772750	1,13003	2202	4300	6502	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772750C>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.83C>T	9.37:g.137772750C>T	ENSP00000291744:p.Ala28Val	False	False		Somatic	0				FCN2_ENST00000291744.6_Missense_Mutation_p.A28V	p.A28V	NM_015837.2	NP_056652.1	WXS	Illumina HiSeq	Phase_I	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	97	+		Myeloproliferative disorder(178;0.0333)	28					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.83C>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224474	0.22457	2.27E-4	0.0	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.58506	0.33;0.63	0.821	0.821	0.18799	.	.	.	.	.	T	0.66597	0.2805	M	0.76574	2.34	0.09310	N	1	D;P	0.71674	0.998;0.718	P;B	0.60345	0.873;0.221	T	0.53823	-0.8384	9	0.62326	D	0.03	.	4.9504	0.14011	0.0:1.0:0.0:0.0	.	28;28	Q15485-2;Q15485	.;FCN2_HUMAN	V	28	ENSP00000291741:A28V;ENSP00000291744:A28V	ENSP00000291744:A28V	A	+	2	0	FCN2	136912571	0.001000	0.12720	0.084000	0.20598	0.162000	0.22319	0.255000	0.18333	0.713000	0.32060	0.467000	0.42956	GCG		0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	0	NM_004108		9:137772750
TPO	7173	broad.mit.edu	37	2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane). {ECO:0000269|PubMed:11916616}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTCTGCGGGACGGTGAC	0.577																																						ENST00000345913.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	GRCh37	CM035088	TPO	M	rs140124953	c.(1993-1995)cGg>cAg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	89.0	85.0	86.0		1994,1994,1823,1823,1994,1475	4.8	1.0	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	665/934,665/934,608/877,608/877,665/890,492/761	1497799	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497799G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1994G>A	2.37:g.1497799G>A	ENSP00000318820:p.Arg665Gln	True	False		Somatic	0				TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q	p.R665Q	NM_000547.5	NP_000538.3	WXS	Illumina HiSeq	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	2085	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	665		R -> W (in TDH2A; fails to localize to the plasma membrane).			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1994G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.152346|4.152346	0.78001|0.78001	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72282	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85643|0.85643	0.5744|0.5744	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0	D|D	0.88101|0.88101	0.2819|0.2819	5|10	.|0.87932	.|D	.|0	-34.9581|-34.9581	18.3104|18.3104	0.90197|0.90197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|665;492;608;665	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	R|Q	140|665;665;665;492;665;608;492;594;139	.|ENSP00000337263:R665Q;ENSP00000318820:R665Q;ENSP00000263886:R665Q;ENSP00000332044:R492Q;ENSP00000329869:R665Q;ENSP00000371636:R608Q;ENSP00000371633:R492Q;ENSP00000405788:R594Q;ENSP00000419461:R139Q	.|ENSP00000329869:R665Q	G|R	+|+	1|2	0|0	TPO|TPO	1476806|1476806	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.175000|0.175000	0.22909|0.22909	7.143000|7.143000	0.77348|0.77348	2.399000|2.399000	0.81585|0.81585	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1497799
KIR3DL3	115653	broad.mit.edu	37	19	55247491	55247491	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_5'Flank|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000342376.3_5'Flank|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517																																						ENST00000291860.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(1159-1161)tgC>tgT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							31.0	38.0	36.0					19																	55247491		1799	3817	5616	SO:0001819	synonymous_variant	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247491C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1161C>T	19.37:g.55247491C>T		False	False		Somatic	0				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	p.C387C	NM_153443.3	NP_703144.2	WXS	Illumina HiSeq	Phase_I	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1179	+			387					A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Silent	SNP	ENST00000291860.1	37	c.1161C>T	CCDS12903.1																																																																																				0.517	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	0	NM_153443		19:55247491
GPRIN1	114787	broad.mit.edu	37	5	176025336	176025336	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547																																						ENST00000303991.4		NA																	0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1498-1500)ttG>ttA		G protein regulated inducer of neurite outgrowth 1							78.0	85.0	83.0					5																	176025336		2203	4298	6501	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176025336C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1500G>A	5.37:g.176025336C>T		True	False		Somatic	0					p.L500L	NM_052899.2	NP_443131.2	WXS	Illumina HiSeq	Phase_I	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1677	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	500					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.1500G>A	CCDS4405.1																																																																																				0.547	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	0	NM_052899		5:176025336
FCER1A	2205	broad.mit.edu	37	1	159273851	159273851	+	Silent	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368																																						ENST00000368115.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(208-210)ctT>ctA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						73.0	72.0	72.0					1																	159273851		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159273851T>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.210T>A	1.37:g.159273851T>A		True	False		Somatic	0				FCER1A_ENST00000368114.1_Silent_p.L37L	p.L70L	NM_002001.3	NP_001992.1	WXS	Illumina HiSeq	Phase_I	P12319	FCERA_HUMAN			4	309	+	all_hematologic(112;0.0429)		70			Ig-like 1.			Silent	SNP	ENST00000368115.1	37	c.210T>A	CCDS1184.1																																																																																				0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	0	NM_002001		1:159273851
NCAM1	4684	broad.mit.edu	37	11	113126681	113126681	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000533760.1	+	15	2126	c.1527C>T	c.(1525-1527)gaC>gaT	p.D509D	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.D627D	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552																																						ENST00000316851.7		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1879-1881)gaC>gaT		neural cell adhesion molecule 1							37.0	38.0	38.0					11																	113126681		1968	4146	6114	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113126681C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1527C>T	11.37:g.113126681C>T		False	False		Somatic	0				NCAM1_ENST00000533760.1_Silent_p.D509D|NCAM1_ENST00000397957.4_3'UTR	p.D627D	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina HiSeq	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	14	1881	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	637			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.1881C>T																																																																																					0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	0	NM_000615		11:113126681
HR	55806	broad.mit.edu	37	8	21985133	21985133	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000312841.8_Silent_p.V274V|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCCAGGGCACAGTGTCTG	0.657																																						ENST00000381418.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(820-822)gtG>gtA		hair growth associated							56.0	64.0	61.0					8																	21985133		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21985133C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.822G>A	8.37:g.21985133C>T		True	False		Somatic	0				HR_ENST00000312841.8_Silent_p.V274V	p.V274V	NM_005144.4	NP_005135.2	WXS	Illumina HiSeq	Phase_I	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2302	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	274					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.822G>A	CCDS6022.1																																																																																				0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	0			8:21985133
TAF1	6872	broad.mit.edu	37	X	70627893	70627893	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000373790.4	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000449580.1_Missense_Mutation_p.M1425V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1425	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468																																						ENST00000449580.1		NA																	0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4273-4275)Atg>Gtg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							190.0	132.0	152.0					X																	70627893		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627893A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4273A>G	X.37:g.70627893A>G	ENSP00000362895:p.Met1425Val	False	False		Somatic	0				TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V	p.M1425V			WXS	Illumina HiSeq	Phase_I	P21675	TAF1_HUMAN			28	4324	+	Renal(35;0.156)	all_lung(315;0.000321)	1425			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4273A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293716	0.60086	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.17	2.92	0.33932	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.89715	3.055	0.58432	D	0.99999	P;D;D	0.61080	0.939;0.989;0.964	P;P;P	0.62560	0.708;0.904;0.647	T	0.58934	-0.7548	10	0.72032	D	0.01	.	9.3206	0.37962	0.8382:0.0:0.0:0.1618	.	1425;1425;1446	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	V	1425;1425;1446;131;131;1446	ENSP00000362895:M1425V;ENSP00000389000:M1425V;ENSP00000406549:M1446V;ENSP00000276072:M1446V	ENSP00000276072:M1446V	M	+	1	0	TAF1	70544618	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.757000	0.91657	1.535000	0.49220	0.345000	0.21793	ATG		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	0	NM_004606		X:70627893
MYO7A	4647	broad.mit.edu	37	11	76918417	76918417	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.G1904G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572																																						ENST00000409709.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5824-5826)ggA>ggG		myosin VIIA							42.0	46.0	45.0					11																	76918417		2056	4185	6241	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76918417A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5826A>G	11.37:g.76918417A>G		True	False		Somatic	0				MYO7A_ENST00000458637.2_Silent_p.G1904G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G	p.G1942G	NM_000260.3	NP_000251.3	WXS	Illumina HiSeq	Phase_I	Q13402	MYO7A_HUMAN			42	6098	+			1942			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5826A>G	CCDS53683.1																																																																																				0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	0	NM_000260		11:76918417
ACAN	176	broad.mit.edu	37	15	89386782	89386782	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000561243.1	+	5	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000439576.2_Silent_p.C318C			P16112	PGCA_HUMAN	aggrecan	318	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677																																						ENST00000439576.2		NA																	0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(952-954)tgC>tgT		aggrecan							29.0	33.0	31.0					15																	89386782		2066	4189	6255	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386782C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.954C>T	15.37:g.89386782C>T		False	False		Somatic	0				ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C	p.C318C	NM_013227.3	NP_037359.3	WXS	Illumina HiSeq	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1328	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		318					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.954C>T	CCDS53970.1																																																																																				0.677	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	NM_001135		15:89386782
DCLK2	166614	broad.mit.edu	37	4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T|DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1858-1860)aTc>aCc		doublecortin-like kinase 2							70.0	72.0	72.0					4																	151168835		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151168835T>C	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1859T>C	4.37:g.151168835T>C	ENSP00000296550:p.Ile620Thr	False	False		Somatic	0				DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	p.I620T	NM_001040260.3	NP_001035350.2	WXS	Illumina HiSeq	Phase_I	Q8N568	DCLK2_HUMAN			13	2613	+	all_hematologic(180;0.151)		620			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1859T>C	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059723	0.93846	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049932	0.85682	D	0.000000	T	0.64681	0.2620	M	0.74647	2.275	0.80722	D	1	D;P;D	0.62365	0.986;0.873;0.991	P;B;D	0.64877	0.885;0.385;0.93	T	0.67868	-0.5559	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	637;619;620	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	620;619;637	ENSP00000296550:I620T;ENSP00000427235:I619T;ENSP00000303887:I637T	ENSP00000296550:I620T	I	+	2	0	DCLK2	151388285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATC		0.527	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	0	NM_001040260		4:151168835
ZSWIM3	140831	broad.mit.edu	37	20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTCCCAGGCCGTACTGGATGA	0.522																																						ENST00000255152.2		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1069-1071)Gta>Ata		zinc finger, SWIM-type containing 3							73.0	70.0	71.0					20																	44506266		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506266G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1069G>A	20.37:g.44506266G>A	ENSP00000255152:p.Val357Ile	False	False		Somatic	0				ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	p.V357I	NM_080752.3	NP_542790.2	WXS	Illumina HiSeq	Phase_I	Q96MP5	ZSWM3_HUMAN			2	1278	+		Myeloproliferative disorder(115;0.0122)	357					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1069G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	g	3.393	-0.123988	0.06795	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.21734	2.01;1.99	5.65	2.64	0.31445	.	0.413487	0.22779	N	0.055752	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	B;B	0.24882	0.048;0.113	B;B	0.13407	0.006;0.009	T	0.33854	-0.9852	10	0.16896	T	0.51	-3.9801	6.6767	0.23098	0.12:0.4609:0.3521:0.067	.	351;357	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	357;351	ENSP00000255152:V357I;ENSP00000406313:V351I	ENSP00000255152:V357I	V	+	1	0	ZSWIM3	43939673	0.000000	0.05858	0.265000	0.24526	0.985000	0.73830	-0.175000	0.09825	0.464000	0.27142	-0.123000	0.14984	GTA		0.522	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	0	NM_080752		20:44506266
ETV3L	440695	broad.mit.edu	37	1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).		cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCGCTGGCCGACACAGGGC	0.647																																						ENST00000454449.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(451-453)cGg>cAg		ets variant 3-like		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	38.0	43.0	41.0		452	-1.0	0.5	1	dbSNP_134	41	1,8599		0,1,4299	no	missense	ETV3L	NM_001004341.2	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	151/362	157068532	3,13003	2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068532C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.452G>A	1.37:g.157068532C>T	ENSP00000430271:p.Arg151Gln	False	False		Somatic	0					p.R151Q	NM_001004341.2	NP_001004341.1	WXS	Illumina HiSeq	Phase_I	Q6ZN32	ETV3L_HUMAN			3	736	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	151		R -> W (in dbSNP:rs12083811).				Missense_Mutation	SNP	ENST00000454449.2	37	c.452G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497505	0.04291	4.54E-4	1.16E-4	ENSG00000253831	ENST00000454449	T	0.08193	3.12	4.3	-1.01	0.10169	.	.	.	.	.	T	0.01124	0.0037	N	0.11201	0.11	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46470	-0.9189	9	0.16896	T	0.51	.	10.2253	0.43222	0.0:0.5723:0.0:0.4277	.	151	Q6ZN32	ETV3L_HUMAN	Q	151	ENSP00000430271:R151Q	ENSP00000430271:R151Q	R	-	2	0	ETV3L	155335156	0.960000	0.32886	0.459000	0.27081	0.103000	0.19146	-1.036000	0.03560	-0.603000	0.05767	-0.797000	0.03246	CGG		0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	0	NM_001004341		1:157068532
RTEL1	51750	broad.mit.edu	37	20	62292776	62292776	+	Silent	SNP	G	G	A	rs116624637		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000360203.5	+	3	553	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1_ENST00000318100.4_Silent_p.A76A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGAGAGGGCGCAAGGAGAGC	0.637																																						ENST00000318100.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(226-228)gcG>gcA		regulator of telomere elongation helicase 1							70.0	64.0	66.0					20																	62292776		2203	4300	6503	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62292776G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.228G>A	20.37:g.62292776G>A		False	False		Somatic	0				RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A	p.A76A	NM_001283009.1	NP_001269938.1	WXS	Illumina HiSeq	Phase_I	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		3	1055	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		76			Helicase ATP-binding.			Silent	SNP	ENST00000360203.5	37	c.228G>A																																																																																					0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	0	NM_032957		20:62292776
ABCC9	10060	broad.mit.edu	37	12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261201.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1054T|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		S -> Y (in HTOCD). {ECO:0000269|PubMed:22610116}.		defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACAGTGAGGGATGTAACAAGG	0.413																																						ENST00000261200.4		NA																	0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3160-3162)Tcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						142.0	139.0	140.0					12																	21997786		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997786A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3160T>A	12.37:g.21997786A>T	ENSP00000261201:p.Ser1054Thr	True	False		Somatic	0				RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T	p.S1054T	NM_020297.2	NP_064693.2	WXS	Illumina HiSeq	Phase_I	O60706	ABCC9_HUMAN			25	3159	-			1054			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3160T>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803647	0.70682	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.278617	0.37393	N	0.002119	D	0.87877	0.6288	L	0.35723	1.085	0.58432	D	0.999994	B;B	0.32382	0.368;0.291	B;B	0.39152	0.292;0.091	D	0.85757	0.1347	10	0.30854	T	0.27	-13.5709	15.2233	0.73330	1.0:0.0:0.0:0.0	.	1054;1054	O60706;O60706-2	ABCC9_HUMAN;.	T	1054;681;1054;1018	ENSP00000261200:S1054T;ENSP00000440521:S681T;ENSP00000261201:S1054T;ENSP00000261202:S1018T	ENSP00000261200:S1054T	S	-	1	0	ABCC9	21889053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.092000	0.94157	1.985000	0.57927	0.528000	0.53228	TCC		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	0	NM_005691		12:21997786
VAC14	55697	broad.mit.edu	37	16	70834811	70834811	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:70834811G>T	ENST00000261776.5	-	0	253				RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CATGGTGGCAGCTGGGGGAAC	0.701																																						ENST00000261776.5		NA																	0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33								Vac14 homolog (S. cerevisiae)																																						55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70834811G>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.-8C>A	16.37:g.70834811G>T		False	False		Somatic	0						NM_018052.3	NP_060522.3	WXS	Illumina HiSeq	Phase_I	Q08AM6	VAC14_HUMAN			0	253	-		Ovarian(137;0.0699)	NA					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Translation_Start_Site	SNP	ENST00000261776.5	37		CCDS10896.1																																																																																				0.701	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	0	NM_018052		16:70834811
PCDHGA7	56108	broad.mit.edu	37	5	140763117	140763117	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGATGGCGGCGACCCGC	0.607																																						ENST00000518325.1		NA																	0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(649-651)ggC>ggT									17.0	20.0	19.0					5																	140763117		2089	4208	6297	SO:0001819	synonymous_variant	0							g.chr5:140763117C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.651C>T	5.37:g.140763117C>T		False	False		Somatic	0				PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.G217G	NM_018920.2	NP_061743.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	651	+			NA					B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.651C>T	CCDS54927.1																																																																																				0.607	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	0	NM_018920		5:140763117
BTNL9	153579	broad.mit.edu	37	5	180475168	180475168	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000327705.9	+	3	582	c.351C>T	c.(349-351)gtC>gtT	p.V117V	BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000376841.2_Silent_p.V117V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597																																						ENST00000327705.9		NA																	0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(349-351)gtC>gtT		butyrophilin-like 9							73.0	60.0	65.0					5																	180475168		2203	4300	6503	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180475168C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.351C>T	5.37:g.180475168C>T		False	False		Somatic	0				BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376841.2_Silent_p.V117V	p.V117V	NM_152547.4	NP_689760.2	WXS	Illumina HiSeq	Phase_I	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	582	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	117			Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.351C>T	CCDS4460.2																																																																																				0.597	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	0	NM_152547		5:180475168
GTF2A1L	11036	broad.mit.edu	37	2	48873884	48873884	+	Silent	SNP	C	C	T	rs189414722		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000403751.3	+	6	718	c.681C>T	c.(679-681)atC>atT	p.I227I	GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	227					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATAAAATCGTGCCTGAAG	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20202	0.0		0.0	False		,,,				2504	0.0					ENST00000394754.1		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2791-2793)atC>atT									120.0	108.0	112.0					2																	48873884		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873884C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.681C>T	2.37:g.48873884C>T		False	False		Somatic	0				GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|LHCGR_ENST00000420913.3_Intron	p.I931I	NM_172311.2	NP_758515.1	WXS	Illumina HiSeq	Phase_I	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	2907	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	884					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2793C>T	CCDS46281.1																																																																																				0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	0	NM_006872		2:48873884
OSBPL9	114883	broad.mit.edu	37	1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000428468.1	+	18	1571	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I541M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368																																						ENST00000371710.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1621-1623)atC>atG		oxysterol binding protein-like 9							92.0	91.0	92.0					1																	52249642		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249642C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1569C>G	1.37:g.52249642C>G	ENSP00000407168:p.Ile523Met	False	False		Somatic	0				OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M	p.I541M	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	WXS	Illumina HiSeq	Phase_I	Q96SU4	OSBL9_HUMAN			18	1805	+			523					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1623C>G	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078450	0.55753	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.93594	3.435	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.996;0.991;0.996;0.993;0.999	D;D;D;D;D	0.78314	0.991;0.952;0.969;0.969;0.984	T	0.76353	-0.2990	10	0.87932	D	0	-10.3454	14.7454	0.69488	0.2284:0.7716:0.0:0.0	.	506;413;539;523;528	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	M	510;541;528;533;358;523;506;442;358;413;345;345	ENSP00000360779:I510M;ENSP00000360775:I541M;ENSP00000337265:I528M;ENSP00000412733:I533M;ENSP00000402646:I358M;ENSP00000407168:I523M;ENSP00000413263:I506M;ENSP00000433675:I442M;ENSP00000433083:I358M;ENSP00000354970:I413M;ENSP00000433279:I345M;ENSP00000431980:I345M	ENSP00000337265:I528M	I	+	3	3	OSBPL9	52022230	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	1.362000	0.46000	0.555000	0.69702	ATC		0.368	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	0			1:52249642
MRVI1	10335	broad.mit.edu	37	11	10645395	10645395	+	Silent	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000436272.1	-	9	1374	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000547195.1_Silent_p.I368I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000527509.2_Silent_p.I368I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTCATCAGGATGTGCTCCT	0.483																																						ENST00000547195.1		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1102-1104)atC>atA		murine retrovirus integration site 1 homolog							99.0	98.0	99.0					11																	10645395		1960	4122	6082	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10645395G>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1296C>A	11.37:g.10645395G>T		False	False		Somatic	0				MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000436272.1_Silent_p.I432I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000534266.2_Silent_p.I144I	p.I368I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	WXS	Illumina HiSeq	Phase_I	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	9	1604	-			432					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.1104C>A																																																																																					0.483	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001098579		11:10645395
TLN1	7094	broad.mit.edu	37	9	35699041	35699041	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTTTGGCCCGGGGCTTCA	0.567																																						ENST00000314888.9		NA																	0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6985-6987)cgG>cgA		talin 1							92.0	82.0	85.0					9																	35699041		2203	4299	6502	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35699041C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6987G>A	9.37:g.35699041C>T		True	False		Somatic	0				TLN1_ENST00000540444.1_Silent_p.R2217R	p.R2329R	NM_006289.3	NP_006280.3	WXS	Illumina HiSeq	Phase_I	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		52	7340	-	all_epithelial(49;0.167)		2329			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.6987G>A	CCDS35009.1																																																																																				0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	NM_006289		9:35699041
NIN	51199	broad.mit.edu	37	14	51288700	51288700	+	Silent	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000382041.3	-	3	265	c.75A>C	c.(73-75)acA>acC	p.T25T	NIN_ENST00000245441.5_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGGACCCTGTGCCCGTCG	0.582			T	PDGFRB	MPD																																	ENST00000245441.5		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(73-75)acA>acC		ninein (GSK3B interacting protein)							259.0	236.0	244.0					14																	51288700		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288700T>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.75A>C	14.37:g.51288700T>G		True	False		Somatic	0				NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T	p.T25T	NM_020921.3	NP_065972	WXS	Illumina HiSeq	Phase_I	Q8N4C6	NIN_HUMAN			3	265	-	all_epithelial(31;0.00244)|Breast(41;0.127)		25			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.75A>C	CCDS32079.1																																																																																				0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	0	NM_182946		14:51288700
SSPO	23145	broad.mit.edu	37	7	149524951	149524951	+	RNA	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:149524951G>A	ENST00000378016.2	+	0	14862							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAAGACCCAGAGTAACTGCA	0.682																																						ENST00000378016.2		NA																	0					NA								SCO-spondin							45.0	56.0	52.0					7																	149524951		2096	4206	6302			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149524951G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149524951G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14862	+	Melanoma(164;0.165)|Ovarian(565;0.177)		NA					Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0			7:149524951
DSC1	1823	broad.mit.edu	37	18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257198.5	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DSC1_ENST00000257197.3_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418																																						ENST00000257197.3		NA																	2	Substitution - Missense(2)	p.R131C(2)	large_intestine(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(391-393)Cgc>Tgc		desmocollin 1							141.0	119.0	127.0					18																	28736086		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736086G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.391C>T	18.37:g.28736086G>A	ENSP00000257198:p.Arg131Cys	False	False		Somatic	0				DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	p.R131C	NM_004948.3	NP_004939.1	WXS	Illumina HiSeq	Phase_I	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	652	-			131					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.391C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435632	0.83885	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.63744	-0.06;-0.06	5.66	3.76	0.43208	Cadherin-like (1);	0.277613	0.24083	N	0.041706	T	0.80732	0.4679	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60609	0.791;0.877	D	0.86178	0.1604	10	0.87932	D	0	.	14.689	0.69070	0.0:0.0:0.74:0.26	.	131;131	Q08554;Q9HB00	DSC1_HUMAN;.	C	131	ENSP00000257197:R131C;ENSP00000257198:R131C	ENSP00000257197:R131C	R	-	1	0	DSC1	26990084	0.989000	0.36119	0.953000	0.39169	0.987000	0.75469	2.123000	0.41996	1.502000	0.48669	0.655000	0.94253	CGC		0.418	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	0	NM_004948, NM_024421		18:28736086
OSBPL9	114883	broad.mit.edu	37	1	52249970	52249970	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000428468.1	+	19	1661	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000371710.3_Silent_p.Y571Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488																																						ENST00000371710.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1711-1713)taC>taT		oxysterol binding protein-like 9							217.0	185.0	195.0					1																	52249970		2203	4300	6503	SO:0001819	synonymous_variant	114883				lipid transport		lipid binding	g.chr1:52249970C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1659C>T	1.37:g.52249970C>T		True	False		Somatic	0				OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y	p.Y571Y	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	WXS	Illumina HiSeq	Phase_I	Q96SU4	OSBL9_HUMAN			19	1895	+			553					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.1713C>T	CCDS41332.3																																																																																				0.488	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	0			1:52249970
PRUNE2	158471	broad.mit.edu	37	9	79325846	79325846	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000376718.3	-	8	1467	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D	PRUNE2_ENST00000428286.1_Silent_p.D89D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGGGCTGTCGTCACTGAGGA	0.602																																						ENST00000428286.1		NA																	0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(265-267)gaC>gaT		prune homolog 2 (Drosophila)							46.0	42.0	43.0					9																	79325846		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325846G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1344C>T	9.37:g.79325846G>A		False	False		Somatic	0				PRUNE2_ENST00000376718.3_Silent_p.D448D	p.D89D			WXS	Illumina HiSeq	Phase_I	Q8WUY3	PRUN2_HUMAN			8	1467	-			448					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.267C>T	CCDS47982.1																																																																																				0.602	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	NM_138818		9:79325846
TXNDC15	79770	broad.mit.edu	37	5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338																																						ENST00000358387.4		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(778-780)Gta>Ata		thioredoxin domain containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98.0	100.0	99.0		778	6.2	0.9	5	dbSNP_134	99	0,8600		0,0,4300	no	missense	TXNDC15	NM_024715.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	260/361	134232006	1,13005	2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232006G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.778G>A	5.37:g.134232006G>A	ENSP00000351157:p.Val260Ile	False	False		Somatic	0				TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	p.V260I	NM_024715.3	NP_078991.3	WXS	Illumina HiSeq	Phase_I	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1403	+			260			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.778G>A	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437679|5.437679	0.96168|0.96168	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113621|ENSG00000113621	ENST00000509954|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.03301	.|3.98;3.98	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00137|0.00137	-1.2004|-1.2004	5|10	.|0.54805	.|T	.|0.06	2.2193|2.2193	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|260	.|Q96J42	.|TXD15_HUMAN	H|I	14|244;260;237	.|ENSP00000351157:V260I;ENSP00000443942:V237I	.|ENSP00000351157:V260I	R|V	+|+	2|1	0|0	TXNDC15|TXNDC15	134259905|134259905	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.972000|0.972000	0.66771|0.66771	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.338	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	0	NM_024715		5:134232006
CAPRIN1	4076	broad.mit.edu	37	11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTTTGCCCTCCAGGTTAGTA	0.363																																						ENST00000341394.4		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(1228-1230)Cca>Gca		cell cycle associated protein 1							75.0	72.0	73.0					11																	34107957		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34107957C>G	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1228C>G	11.37:g.34107957C>G	ENSP00000340329:p.Pro410Ala	False	False		Somatic	0				CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A	p.P410A	NM_005898.4	NP_005889.3	WXS	Illumina HiSeq	Phase_I	Q14444	CAPR1_HUMAN			11	1417	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	410					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1228C>G	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278865	0.59758	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	6.03	6.03	0.97812	.	0.098488	0.64402	D	0.000001	T	0.31513	0.0799	L	0.35414	1.06	0.80722	D	1	B;B	0.25850	0.136;0.023	B;B	0.21151	0.033;0.019	T	0.04621	-1.0938	10	0.21540	T	0.41	-6.388	20.5753	0.99366	0.0:1.0:0.0:0.0	.	410;410	Q14444;Q14444-2	CAPR1_HUMAN;.	A	410;410;410;410;329	ENSP00000340329:P410A;ENSP00000374296:P410A;ENSP00000434150:P410A;ENSP00000434204:P410A;ENSP00000431581:P329A	ENSP00000340329:P410A	P	+	1	0	CAPRIN1	34064533	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.642000	0.61383	2.868000	0.98415	0.557000	0.71058	CCA		0.363	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	0	NM_005898		11:34107957
PLXNB3	5365	broad.mit.edu	37	X	153035996	153035996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000361971.5	+	10	2023	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V660M|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	637	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677																																						ENST00000538966.1		NA																	0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1978-1980)Gtg>Atg		plexin B3							30.0	29.0	29.0					X																	153035996		2191	4291	6482	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035996G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1909G>A	X.37:g.153035996G>A	ENSP00000355378:p.Val637Met	False	False		Somatic	0				PLXNB3_ENST00000361971.5_Missense_Mutation_p.V637M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M	p.V660M	NM_001163257.1	NP_001156729.1	WXS	Illumina HiSeq	Phase_I	Q9ULL4	PLXB3_HUMAN			11	2249	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		637					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.1978G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812203	0.50527	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.73789	4.84;4.8;4.25;-0.78	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.85630	2.765	0.37423	D	0.9137	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.90934	0.4792	10	0.66056	D	0.02	.	15.3352	0.74247	0.0:0.0:1.0:0.0	.	290;319;660;637	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	660;637;290;247	ENSP00000442736:V660M;ENSP00000355378:V637M;ENSP00000445569:V290M;ENSP00000441919:V247M	ENSP00000355378:V637M	V	+	1	0	PLXNB3	152689190	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.590000	0.53979	2.212000	0.71576	0.525000	0.51046	GTG		0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	0			X:153035996
TGFBR2	7048	broad.mit.edu	37	3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCTCCATCTGTGAGAAGCC	0.408																																						ENST00000295754.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(229-231)Tgt>Agt		transforming growth factor, beta receptor II (70/80kDa)							66.0	60.0	62.0					3																	30686373		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30686373T>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.229T>A	3.37:g.30686373T>A	ENSP00000295754:p.Cys77Ser	False	False		Somatic	0				TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	p.C77S	NM_003242.5	NP_003233.4	WXS	Illumina HiSeq	Phase_I	P37173	TGFR2_HUMAN			2	611	+			77					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.229T>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530383	0.85706	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.89123	-2.47;-2.47	5.66	5.66	0.87406	Transforming growth factor beta receptor 2 ectodomain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;1.0	D	0.94419	0.7639	10	0.66056	D	0.02	.	14.8777	0.70507	0.0:0.0:0.0:1.0	.	77;102	P37173;D2JYI1	TGFR2_HUMAN;.	S	77;102	ENSP00000295754:C77S;ENSP00000351905:C102S	ENSP00000295754:C77S	C	+	1	0	TGFBR2	30661377	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.321000	0.72881	2.147000	0.66899	0.533000	0.62120	TGT		0.408	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0			3:30686373
MRPL12	6182	broad.mit.edu	37	17	79673938	79673938	+	Silent	SNP	G	G	A	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000333676.3	+	4	493	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000571730.1_Silent_p.A116A|SLC25A10_ENST00000541223.1_Silent_p.A116A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	116					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCCTAAGGCGGTGGAAGAAG	0.577																																						ENST00000571730.1		NA																	0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(346-348)gcG>gcA		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	A		1,4405	2.1+/-5.4	0,1,2202	60.0	51.0	54.0		348	-7.6	0.0	17	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		116/199	79673938	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79673938G>A	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.348G>A	17.37:g.79673938G>A		False	False		Somatic	0				SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A	p.A116A			WXS	Illumina HiSeq	Phase_I	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	479	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	ENST00000333676.3	37	c.348G>A	CCDS11785.1																																																																																				0.577	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	0	NM_002949		17:79673938
TRIM26	7726	broad.mit.edu	37	6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GCGGCTCCCTGAGATGGGGCG	0.602																																						ENST00000454678.2		NA																	0				lung(1)|ovary(2)	3						c.(139-141)tCa>tTa		tripartite motif containing 26							47.0	45.0	46.0					6																	30166741		1509	2709	4218	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166741G>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.140C>T	6.37:g.30166741G>A	ENSP00000410446:p.Ser47Leu	False	False		Somatic	0				TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	p.S47L	NM_003449.4	NP_003440.1	WXS	Illumina HiSeq	Phase_I	Q12899	TRI26_HUMAN			4	576	-			47					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.140C>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790254	0.31685	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09	5.59	3.8	0.43715	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.676716	0.12973	N	0.423994	T	0.02929	0.0087	L	0.33485	1.01	0.09310	N	1	P	0.50369	0.934	P	0.47864	0.559	T	0.38457	-0.9660	10	0.21540	T	0.41	.	5.4594	0.16607	0.1742:0.1654:0.6604:0.0	.	47	Q12899	TRI26_HUMAN	L	47	ENSP00000391879:S47L;ENSP00000410446:S47L;ENSP00000395491:S47L;ENSP00000413673:S47L;ENSP00000387530:S47L;ENSP00000400920:S47L	ENSP00000413673:S47L	S	-	2	0	TRIM26	30274720	0.007000	0.16637	0.015000	0.15790	0.052000	0.14988	1.758000	0.38410	1.363000	0.46019	-0.163000	0.13421	TCA		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	0	NM_003449		6:30166741
ZNF292	23036	broad.mit.edu	37	6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353																																						ENST00000369577.3		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6589-6591)Cat>Aat		zinc finger protein 292							196.0	195.0	196.0					6																	87969936		1863	4097	5960	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969936C>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6589C>A	6.37:g.87969936C>A	ENSP00000358590:p.His2197Asn	False	False		Somatic	0				ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	p.H2197N	NM_015021.1	NP_055836.1	WXS	Illumina HiSeq	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6632	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2197					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6589C>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546126	0.86022	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.92268	3.29	0.54753	D	0.99998	D	0.69078	0.997	D	0.73380	0.98	D	0.85022	0.0912	10	0.52906	T	0.07	.	19.21	0.93749	0.0:1.0:0.0:0.0	.	2197	O60281	ZN292_HUMAN	N	2197;2192;115	ENSP00000358590:H2197N;ENSP00000342847:H2192N;ENSP00000428857:H115N	ENSP00000342847:H2192N	H	+	1	0	ZNF292	88026655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.541000	0.85698	0.591000	0.81541	CAT		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	0	NM_015021		6:87969936
ENDOD1	23052	broad.mit.edu	37	11	94862206	94862206	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433																																						ENST00000278505.4		NA																	0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(964-966)gaG>gaA		endonuclease domain containing 1							68.0	64.0	65.0					11																	94862206		1842	4084	5926	SO:0001819	synonymous_variant	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862206G>A	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.966G>A	11.37:g.94862206G>A		True	False		Somatic	0					p.E322E	NM_015036.2	NP_055851.1	WXS	Illumina HiSeq	Phase_I	O94919	ENDD1_HUMAN			2	1084	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	322					A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	c.966G>A	CCDS41699.1																																																																																				0.433	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	0	NM_015036		11:94862206
FBXO15	201456	broad.mit.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001					ENST00000269500.5		NA																	0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(889-891)Cgc>Tgc		F-box protein 15		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1117,889	4.6	0.0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	SO:0001583	missense	201456							g.chr18:71790624G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	18.37:g.71790624G>A	ENSP00000393154:p.Arg373Cys	True	False		Somatic	0				FBXO15_ENST00000419743.2_Missense_Mutation_p.R373C	p.R297C	NM_152676.2	NP_689889.1	WXS	Illumina HiSeq	Phase_I	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1224	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	297					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.889C>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	FBXO15	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC		0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	0	NM_152676		18:71790624
NRSN1	140767	broad.mit.edu	37	6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A	rs199771455		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3			neurensin 1									p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		14671	0.001		0.0	False		,,,				2504	0.0					ENST00000378491.4		NA																	2	Substitution - Missense(2)	p.E91K(2)	lung(1)|skin(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(271-273)Gaa>Aaa		neurensin 1							102.0	97.0	99.0					6																	24145857		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145857G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.271G>A	6.37:g.24145857G>A	ENSP00000367752:p.Glu91Lys	False	False		Somatic	0					p.E91K	NM_080723.4	NP_542454.3	WXS	Illumina HiSeq	Phase_I	Q8IZ57	NRSN1_HUMAN			4	572	+			91						Missense_Mutation	SNP	ENST00000378491.4	37	c.271G>A	CCDS4549.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.178898	0.94846	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.24151	1.87	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.50432	-0.8829	10	0.87932	D	0	5.9041	19.1095	0.93312	0.0:0.0:1.0:0.0	.	91	Q8IZ57	NRSN1_HUMAN	K	91	ENSP00000367752:E91K	ENSP00000367738:E91K	E	+	1	0	NRSN1	24253836	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.620000	0.98373	2.524000	0.85096	0.557000	0.71058	GAA		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	0	NM_080723		6:24145857
TBC1D32	221322	broad.mit.edu	37	6	121402015	121402015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:121402015G>A	ENST00000398212.2	-	32	3725	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.R1267*	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1226	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TCACTCACTCGAAACCCATGC	0.353																																						ENST00000275159.6		NA																	0					NA						c.(3799-3801)Cga>Tga		TBC1 domain family, member 32							85.0	80.0	81.0					6																	121402015		1870	4117	5987	SO:0001587	stop_gained	221322							g.chr6:121402015G>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3676C>T	6.37:g.121402015G>A	ENSP00000381270:p.Arg1226*	True	False		Somatic	0				TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.R1226*	p.R1267*			WXS	Illumina HiSeq	Phase_I					33	3798	-			NA					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	c.3799C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	40	8.517622	0.98845	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.55	5.55	0.83447	.	0.262258	0.35903	N	0.002901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8591	0.92265	0.0:0.0:1.0:0.0	.	.	.	.	X	1267;1226	.	ENSP00000275159:R1267X	R	-	1	2	C6orf170	121443714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.237000	0.65360	2.761000	0.94854	0.650000	0.86243	CGA		0.353	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	0	NM_152730		6:121402015
THEMIS	387357	broad.mit.edu	37	6	128134640	128134640	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368248.2	-	4	1294	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000368250.1_Silent_p.S303S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488																																						ENST00000368250.1		NA																	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(907-909)tcC>tcT		thymocyte selection associated							94.0	96.0	95.0					6																	128134640		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134640G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1146C>T	6.37:g.128134640G>A		False	False		Somatic	0				THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000368248.2_Silent_p.S382S	p.S303S			WXS	Illumina HiSeq	Phase_I	Q8N1K5	THMS1_HUMAN			5	1407	-			382			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.909C>T	CCDS34534.1																																																																																				0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_001010923		6:128134640
SH2D4A	63898	broad.mit.edu	37	8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000265807.3	+	9	1615	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T|SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCTGCAGACGCCTACAGCTT	0.498																																						ENST00000265807.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(1204-1206)Gcc>Acc		SH2 domain containing 4A							86.0	76.0	80.0					8																	19250984		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19250984G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1204G>A	8.37:g.19250984G>A	ENSP00000265807:p.Ala402Thr	False	False		Somatic	0				SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T	p.A402T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	WXS	Illumina HiSeq	Phase_I	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	9	1615	+			402			SH2.		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.1204G>A	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602992	0.28534	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.62639	0.01;0.01;0.01	5.89	3.48	0.39840	SH2 motif (4);	0.143839	0.49916	D	0.000129	T	0.32315	0.0825	N	0.01656	-0.775	0.21740	N	0.999567	B;B	0.28026	0.198;0.064	B;B	0.28784	0.094;0.039	T	0.20672	-1.0268	10	0.19590	T	0.45	.	12.1602	0.54099	0.0:0.0:0.2721:0.7279	.	357;402	B4DDR1;Q9H788	.;SH24A_HUMAN	T	402;357;402	ENSP00000265807:A402T;ENSP00000429482:A357T;ENSP00000428684:A402T	ENSP00000265807:A402T	A	+	1	0	SH2D4A	19295264	1.000000	0.71417	0.996000	0.52242	0.276000	0.26787	3.207000	0.51106	0.468000	0.27243	-1.262000	0.01453	GCC		0.498	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	0	NM_022071		8:19250984
OSBPL9	114883	broad.mit.edu	37	1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000428468.1	+	18	1582	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S545L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348																																						ENST00000371710.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1633-1635)tCa>tTa		oxysterol binding protein-like 9							89.0	88.0	89.0					1																	52249653		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249653C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1580C>T	1.37:g.52249653C>T	ENSP00000407168:p.Ser527Leu	True	False		Somatic	0				OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L	p.S545L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	WXS	Illumina HiSeq	Phase_I	Q96SU4	OSBL9_HUMAN			18	1816	+			527					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1634C>T	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	33	5.236229	0.95240	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.997;0.994;0.997;0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.1822	19.0133	0.92882	0.0:1.0:0.0:0.0	.	510;417;543;527;532	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	514;545;532;537;362;527;510;446;362;417;349;349	ENSP00000360779:S514L;ENSP00000360775:S545L;ENSP00000337265:S532L;ENSP00000412733:S537L;ENSP00000402646:S362L;ENSP00000407168:S527L;ENSP00000413263:S510L;ENSP00000433675:S446L;ENSP00000433083:S362L;ENSP00000354970:S417L;ENSP00000433279:S349L;ENSP00000431980:S349L	ENSP00000337265:S532L	S	+	2	0	OSBPL9	52022241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.576000	0.82467	2.729000	0.93468	0.555000	0.69702	TCA		0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	0			1:52249653
MVB12B	89853	broad.mit.edu	37	9	129184132	129184132	+	Splice_Site	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:129184132G>A	ENST00000361171.3	+	7	743		c.e7-1		MVB12B_ENST00000436593.3_Splice_Site	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B						protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCTTCCTCAGGCACATCTCC	0.522																																						ENST00000361171.3		NA																	0					NA						c.e7-1		multivesicular body subunit 12B							176.0	144.0	155.0					9																	129184132		2203	4300	6503	SO:0001630	splice_region_variant	89853							g.chr9:129184132G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.663-1G>A	9.37:g.129184132G>A		False	False		Somatic	0				MVB12B_ENST00000436593.3_Splice_Site		NM_033446.2	NP_258257.1	WXS	Illumina HiSeq	Phase_I					7	743	+			NA					Q8N6S7	Splice_Site	SNP	ENST00000361171.3	37		CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439940	0.43326	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8661	0.92293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM125B	128223953	1.000000	0.71417	0.999000	0.59377	0.443000	0.32047	6.759000	0.74934	2.526000	0.85167	0.585000	0.79938	.		0.522	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	0	XM_088525	Intron	9:129184132
HIPK3	10114	broad.mit.edu	37	11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478																																						ENST00000303296.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2914-2916)gAc>gTc		homeodomain interacting protein kinase 3							127.0	112.0	117.0					11																	33373261		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373261A>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2915A>T	11.37:g.33373261A>T	ENSP00000304226:p.Asp972Val	False	False		Somatic	0				HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	p.D972V	NM_005734.3	NP_005725.3	WXS	Illumina HiSeq	Phase_I	Q9H422	HIPK3_HUMAN			15	3220	+			972			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2915A>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091829	0.36952	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.67;0.66;0.67;0.67	6.05	3.75	0.43078	.	0.268050	0.31821	N	0.007020	T	0.33702	0.0872	N	0.14661	0.345	0.30727	N	0.747639	B;B	0.33103	0.397;0.042	B;B	0.41571	0.36;0.056	T	0.34129	-0.9841	10	0.19147	T	0.46	.	10.2146	0.43160	0.8652:0.0:0.1348:0.0	.	951;972	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	951;972;951;951	ENSP00000431710:D951V;ENSP00000304226:D972V;ENSP00000368301:D951V;ENSP00000398241:D951V	ENSP00000304226:D972V	D	+	2	0	HIPK3	33329837	0.998000	0.40836	0.138000	0.22173	0.108000	0.19459	3.844000	0.55873	0.538000	0.28769	-0.263000	0.10527	GAC		0.478	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	0	NM_005734		11:33373261
SEC16B	89866	broad.mit.edu	37	1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448																																						ENST00000308284.6		NA																	0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(502-504)Cca>Gca		SEC16 homolog B (S. cerevisiae)							117.0	114.0	115.0					1																	177934213		1930	4138	6068	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177934213G>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.502C>G	1.37:g.177934213G>C	ENSP00000308339:p.Pro168Ala	False	False		Somatic	0				SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.3_RNA	p.P168A	NM_033127.2	NP_149118.2	WXS	Illumina HiSeq	Phase_I	Q96JE7	SC16B_HUMAN			4	591	-			168			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.502C>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100919	0.20552	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	2.51;0.92	5.49	-8.05	0.01106	.	1.562370	0.03228	N	0.178526	T	0.26412	0.0645	L	0.50333	1.59	0.09310	N	1	B;B;B	0.25563	0.129;0.055;0.055	B;B;B	0.21151	0.033;0.03;0.03	T	0.16394	-1.0404	10	0.15066	T	0.55	5.5521	1.2287	0.01939	0.4395:0.1985:0.1517:0.2103	.	168;168;168	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	A	168	ENSP00000308339:P168A;ENSP00000431727:P168A	ENSP00000308339:P168A	P	-	1	0	AL359075.1	176200836	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.828000	0.04419	-1.710000	0.01397	-0.909000	0.02823	CCA		0.448	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	0	NM_033127		1:177934213
FBLN2	2199	broad.mit.edu	37	3	13612273	13612273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:13612273G>A	ENST00000295760.7	+	2	487	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I|FBLN2_ENST00000404922.3_Missense_Mutation_p.V140I|FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	140	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGTGGGCTGCGTCCACGCGGG	0.677																																						ENST00000404922.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(418-420)Gtc>Atc		fibulin 2							9.0	13.0	11.0					3																	13612273		2134	4218	6352	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612273G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.418G>A	3.37:g.13612273G>A	ENSP00000295760:p.Val140Ile	False	False		Somatic	0				FBLN2_ENST00000295760.7_Missense_Mutation_p.V140I|FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I	p.V140I	NM_001004019.1	NP_001004019.1	WXS	Illumina HiSeq	Phase_I	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	537	+			140			N.|Subdomain NA (Cys-rich).		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.418G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539238	0.13250	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000465610;ENST00000492059	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;1.44;-0.18	5.05	-4.8	0.03190	.	0.992466	0.08188	N	0.984342	T	0.46054	0.1373	L	0.46157	1.445	0.09310	N	1	B;B;B	0.14805	0.011;0.007;0.003	B;B;B	0.09377	0.004;0.003;0.002	T	0.38650	-0.9651	10	0.45353	T	0.12	.	2.9868	0.05971	0.4092:0.2291:0.2727:0.089	.	140;140;166	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	I	166;140;140;140;140	ENSP00000445705:V166I;ENSP00000384169:V140I;ENSP00000295760:V140I;ENSP00000420164:V140I;ENSP00000420042:V140I	ENSP00000295760:V140I	V	+	1	0	FBLN2	13587273	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-0.627000	0.05521	-0.614000	0.05687	-0.252000	0.11476	GTC		0.677	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	0	NM_001004019		3:13612273
SPTA1	6708	broad.mit.edu	37	1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1925					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAATCGTCTTCCAATTGCA	0.453																																						ENST00000368147.4		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5773-5775)gaA>gaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							176.0	172.0	174.0					1																	158596687		1869	4111	5980	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596687T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5775A>C	1.37:g.158596687T>G	ENSP00000357129:p.Glu1925Asp	False	False		Somatic	0					p.E1925D	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			41	5955	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5775A>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	1.984	-0.433334	0.04669	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39997	1.05;1.05	5.41	-3.96	0.04106	.	0.513432	0.14584	N	0.310658	T	0.04634	0.0126	N	0.17564	0.495	0.21416	N	0.999695	B	0.06786	0.001	B	0.09377	0.004	T	0.33854	-0.9852	10	0.09338	T	0.73	.	0.247	0.00200	0.2871:0.2601:0.2146:0.2382	.	1925	P02549	SPTA1_HUMAN	D	1925;1922	ENSP00000357130:E1925D;ENSP00000357129:E1922D	ENSP00000357129:E1922D	E	-	3	2	SPTA1	156863311	0.995000	0.38212	0.001000	0.08648	0.340000	0.28889	0.254000	0.18314	-0.327000	0.08551	0.460000	0.39030	GAA		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158596687
PARD3B	117583	broad.mit.edu	37	2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	103					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCCCAGATGCTTTTGAGAC	0.478																																						ENST00000406610.2		NA																	0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(307-309)Gct>Act		par-3 family cell polarity regulator beta							83.0	85.0	85.0					2																	205829959		1854	4098	5952	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205829959G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.307G>A	2.37:g.205829959G>A	ENSP00000385848:p.Ala103Thr	False	False		Somatic	0				PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T	p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	WXS	Illumina HiSeq	Phase_I	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	3	514	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	103					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.307G>A		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375436	0.61735	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.61	3.73	0.42828	.	0.220595	0.39020	N	0.001496	T	0.29355	0.0731	N	0.14661	0.345	0.26617	N	0.972736	P;P;P;P;P	0.49358	0.814;0.923;0.87;0.716;0.818	P;P;P;B;B	0.46796	0.458;0.527;0.525;0.407;0.167	T	0.08027	-1.0742	10	0.28530	T	0.3	.	11.2408	0.48968	0.0:0.2451:0.5704:0.1845	.	103;103;103;103;103	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	T	103	ENSP00000385848:A103T;ENSP00000351618:A103T;ENSP00000317261:A103T;ENSP00000340280:A103T	ENSP00000340280:A103T	A	+	1	0	PARD3B	205538204	0.558000	0.26554	1.000000	0.80357	0.984000	0.73092	1.066000	0.30604	2.635000	0.89317	0.563000	0.77884	GCT		0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	0	NM_057177		2:205829959
SNAP29	9342	broad.mit.edu	37	22	21213614	21213614	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	72					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637																																						ENST00000215730.7		NA																	0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(214-216)aaG>aaA		synaptosomal-associated protein, 29kDa							26.0	27.0	27.0					22																	21213614		2200	4295	6495	SO:0001819	synonymous_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213614G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.216G>A	22.37:g.21213614G>A		False	False		Somatic	0					p.K72K	NM_004782.3	NP_004773.1	WXS	Illumina HiSeq	Phase_I	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	344	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	NA						Silent	SNP	ENST00000215730.7	37	c.216G>A	CCDS13784.1																																																																																				0.637	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	0	NM_004782		22:21213614
KRBOX4	55634	broad.mit.edu	37	X	46332385	46332385	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:46332385G>C	ENST00000344302.4	+	6	1085	c.454G>C	c.(454-456)Gca>Cca	p.A152P	KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	152					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										GTGGGAAAAGGCATTCAAAAC	0.338																																						ENST00000344302.4		NA																	0					NA						c.(454-456)Gca>Cca		KRAB box domain containing 4							62.0	55.0	57.0					X																	46332385		2203	4300	6503	SO:0001583	missense	55634							g.chrX:46332385G>C		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.454G>C	X.37:g.46332385G>C	ENSP00000345797:p.Ala152Pro	False	False		Somatic	0				KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron	p.A152P	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	WXS	Illumina HiSeq	Phase_I					6	1085	+			NA					A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	c.454G>C	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	G	0.196	-1.048919	0.01981	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00808	5.67;5.81	1.83	-0.221	0.13126	.	.	.	.	.	T	0.00608	0.0020	N	0.14661	0.345	0.20074	N	0.999931	B;B	0.30361	0.182;0.277	B;B	0.20955	0.014;0.032	T	0.47394	-0.9121	9	0.40728	T	0.16	.	2.7527	0.05285	0.1688:0.0:0.3345:0.4967	.	152;147	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	P	152;147;152	ENSP00000345797:A152P;ENSP00000298190:A147P	ENSP00000298190:A147P	A	+	1	0	ZNF673	46217329	0.000000	0.05858	0.009000	0.14445	0.061000	0.15899	-0.063000	0.11655	-0.151000	0.11176	-0.330000	0.08379	GCA		0.338	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	0	NM_017776		X:46332385
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
PSMC2	5701	broad.mit.edu	37	7	102996160	102996160	+	Silent	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448																																						ENST00000435765.1		NA																	0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(208-210)acT>acC		proteasome (prosome, macropain) 26S subunit, ATPase, 2							95.0	93.0	94.0					7																	102996160		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996160T>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.210T>C	7.37:g.102996160T>C		True	False		Somatic	0				PSMC2_ENST00000544811.1_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	p.T70T	NM_002803.3	NP_002794.1	WXS	Illumina HiSeq	Phase_I	P35998	PRS7_HUMAN			5	621	+			70					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.210T>C	CCDS5731.1																																																																																				0.448	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	0	NM_002803		7:102996160
PACSIN3	29763	broad.mit.edu	37	11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.		A -> V (in dbSNP:rs7106654). {ECO:0000269|PubMed:10531379}.		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677																																						ENST00000539589.1		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(181-183)Gcc>Acc		protein kinase C and casein kinase substrate in neurons 3							59.0	51.0	53.0					11																	47203984		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47203984C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.181G>A	11.37:g.47203984C>T	ENSP00000440945:p.Ala61Thr	True	False		Somatic	0				PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	p.A61T	NM_001184975.1	NP_001171904.1	WXS	Illumina HiSeq	Phase_I	Q9UKS6	PACN3_HUMAN			4	523	-			61		A -> V (in dbSNP:rs7106654).	FCH.		A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.181G>A	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497427	0.64186	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725;ENST00000530405;ENST00000524509	T;T;T;T;T;T;T	0.52526	2.31;2.31;2.31;0.66;0.66;0.66;0.66	5.01	5.01	0.66863	Fps/Fes/Fer/CIP4 homology (3);	0.167650	0.52532	D	0.000063	T	0.40932	0.1137	L	0.46885	1.475	0.58432	D	0.999998	P	0.45531	0.86	B	0.43838	0.433	T	0.26849	-1.0091	10	0.40728	T	0.16	-13.7472	7.1565	0.25641	0.218:0.6951:0.0:0.0869	.	61	Q9UKS6	PACN3_HUMAN	T	61	ENSP00000298838:A61T;ENSP00000440945:A61T;ENSP00000437252:A61T;ENSP00000434699:A61T;ENSP00000435638:A61T;ENSP00000435672:A61T;ENSP00000431861:A61T	ENSP00000298838:A61T	A	-	1	0	PACSIN3	47160560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.895000	0.48648	2.511000	0.84671	0.561000	0.74099	GCC		0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	0	NM_016223		11:47203984
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000266509.2	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TAGAGAGAAGGTTTGATATCC	0.393																																						ENST00000381552.1		NA																	0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(217-219)agG>agT		solute carrier organic anion transporter family, member 1C1							216.0	175.0	189.0					12																	20854341		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854341G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.219G>T	12.37:g.20854341G>T	ENSP00000266509:p.Arg73Ser	True	False		Somatic	0				SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S	p.R73S			WXS	Illumina HiSeq	Phase_I	Q9NYB5	SO1C1_HUMAN			3	587	+	Esophageal squamous(101;0.149)		73					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.219G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611539	0.66558	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.09	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	H	0.95611	3.695	0.45205	D	0.998213	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.995	T	0.76691	-0.2866	10	0.87932	D	0	.	6.9954	0.24779	0.3913:0.0:0.6087:0.0	.	73;73;73	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	S	73	ENSP00000444149:R73S;ENSP00000438665:R73S;ENSP00000266509:R73S;ENSP00000370964:R73S	ENSP00000266509:R73S	R	+	3	2	SLCO1C1	20745608	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.428000	0.21395	0.740000	0.32651	0.655000	0.94253	AGG		0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	0	NM_017435		12:20854341
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys	False	False		Somatic	0				RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	WXS	Illumina HiSeq	Phase_I	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	0	NM_002506		1:115829233
SMPD4	55627	broad.mit.edu	37	2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000452225.2	-	4	357	c.119C>G	c.(118-120)cCa>cGa	p.P40R	SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000431183.2_Silent_p.A253A			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACATACCTTGGCATGAGGGG	0.448																																						ENST00000452225.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(118-120)cCa>cGa		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						125.0	102.0	110.0					2																	130921950		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130921950G>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000452225.2:c.119C>G	2.37:g.130921950G>C	ENSP00000387762:p.Pro40Arg	False	False		Somatic	0				SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000431183.2_Silent_p.A253A	p.P40R			WXS	Illumina HiSeq	Phase_I	Q9NXE4	NSMA3_HUMAN			4	357	-	Colorectal(110;0.1)		0					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000452225.2	37	c.119C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.526|4.526	0.097659|0.097659	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225;ENST00000426662|ENST00000430682	.|.	.|.	.|.	4.17|4.17	3.28|3.28	0.37604|0.37604	.|.	.|.	.|.	.|.	.|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.41131|.	0.035;0.739|.	B;B|.	0.33121|.	0.017;0.158|.	T|T	0.47156|0.47156	-0.9139|-0.9139	7|4	0.41790|.	T|.	0.15|.	.|.	5.3514|5.3514	0.16038|0.16038	0.1079:0.0:0.6939:0.1982|0.1079:0.0:0.6939:0.1982	.|.	40;40|.	B4E0L6;B4DQ31|.	.;.|.	R|E	155;40;40|116	.|.	ENSP00000397479:P40R|.	P|Q	-|-	2|1	0|0	SMPD4|SMPD4	130638420|130638420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.994000|0.994000	0.29693|0.29693	0.733000|0.733000	0.32492|0.32492	0.557000|0.557000	0.71058|0.71058	CCA|CAA		0.448	SMPD4-205	KNOWN	basic	protein_coding	protein_coding		0	NM_017751		2:130921950
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1		NA																	0					NA																																														0							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1508	+			NA						RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1	0			3:195404651
ZFP91	80829	broad.mit.edu	37	11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q|LPXN_ENST00000528954.1_5'Flank|LPXN_ENST00000528489.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTCCGCGACTCCTGTGA	0.672											OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316059.6		NA																	0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(334-336)cGa>cAa		ZFP91 zinc finger protein							15.0	16.0	16.0					11																	58347089		1775	3610	5385	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58347089G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.335G>A	11.37:g.58347089G>A	ENSP00000339030:p.Arg112Gln	False	False		Somatic	0	OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1030	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q	p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	WXS	Illumina HiSeq	Phase_I	Q96JP5	ZFP91_HUMAN			1	506	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	112					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.335G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756859	0.49362	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13901	2.55	3.77	3.77	0.43336	.	.	.	.	.	T	0.07908	0.0198	N	0.19112	0.55	0.41174	D	0.986189	P;P	0.44241	0.829;0.738	B;B	0.33339	0.162;0.078	T	0.24083	-1.0170	9	0.59425	D	0.04	-2.8941	11.4656	0.50237	0.0:0.0:1.0:0.0	.	112;112	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	112	ENSP00000339030:R112Q	ENSP00000374569:R112Q	R	+	2	0	ZFP91	58103665	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.412000	0.59787	1.815000	0.52974	0.313000	0.20887	CGA		0.672	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	0	NM_053023		11:58347089
HECW1	23072	broad.mit.edu	37	7	43447240	43447240	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.2	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.K237K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	237	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGGGAAACACAGCATCT	0.493																																						ENST00000395891.2		NA																	0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(709-711)aaA>aaG		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							54.0	54.0	54.0					7																	43447240		1914	4153	6067	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43447240A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.711A>G	7.37:g.43447240A>G		True	False		Somatic	0				HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.K237K	p.K237K	NM_015052.3	NP_055867.3	WXS	Illumina HiSeq	Phase_I	Q76N89	HECW1_HUMAN			8	1316	+			NA			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.711A>G	CCDS5469.2																																																																																				0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	NM_015052		7:43447240
PCLO	27445	broad.mit.edu	37	7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGTAACTCTTCTGTCGGAGA	0.438																																						ENST00000333891.9		NA																	0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5518-5520)gAa>gGa		piccolo presynaptic cytomatrix protein							224.0	206.0	212.0					7																	82584750		1870	4105	5975	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584750T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5519A>G	7.37:g.82584750T>C	ENSP00000334319:p.Glu1840Gly	False	False		Somatic	0				PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	p.E1840G	NM_033026.5	NP_149015.2	WXS	Illumina HiSeq	Phase_I	Q9Y6V0	PCLO_HUMAN			5	5856	-			NA						Missense_Mutation	SNP	ENST00000333891.9	37	c.5519A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855731	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.30448	1.53;1.55	5.57	5.57	0.84162	.	.	.	.	.	T	0.42585	0.1209	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.41645	-0.9497	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1840;1840	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1771;1840;1840	ENSP00000334319:E1840G;ENSP00000388393:E1840G	ENSP00000334319:E1840G	E	-	2	0	PCLO	82422686	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.013000	0.88655	2.116000	0.64780	0.533000	0.62120	GAA		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	0	NM_014510		7:82584750
CFB	629	broad.mit.edu	37	6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000425368.2	+	15	2437	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	642	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502																																						ENST00000456570.1		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(3430-3432)Cgg>Tgg		complement factor B							93.0	95.0	94.0					6																	31918989		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918989C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1924C>T	6.37:g.31918989C>T	ENSP00000416561:p.Arg642Trp	False	False		Somatic	0				CFB_ENST00000425368.2_Missense_Mutation_p.R642W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W	p.R1144W			WXS	Illumina HiSeq	Phase_I	P00751	CFAB_HUMAN			27	3485	+			642					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.3430C>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068731	0.76301	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.41	5.41	0.78517	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.166558	0.28865	N	0.013890	D	0.90126	0.6915	L	0.48260	1.515	0.37642	D	0.922095	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91549	0.5255	10	0.87932	D	0	-23.6051	11.7828	0.52023	0.1755:0.8245:0.0:0.0	.	1144;642	B4E1Z4;P00751	.;CFAB_HUMAN	W	1144;642;1144;993	ENSP00000451848:R1144W;ENSP00000416561:R642W;ENSP00000410815:R1144W;ENSP00000418996:R993W	ENSP00000416561:R642W	R	+	1	2	CFB;XXbac-BPG116M5.17	32026968	0.986000	0.35501	0.957000	0.39632	0.975000	0.68041	2.981000	0.49329	2.535000	0.85469	0.591000	0.81541	CGG		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	0	NM_001710		6:31918989
EP300	2033	broad.mit.edu	37	22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCACGAAGATATTACTCAG	0.438			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7		NA		Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1720-1722)gAt>gGt		E1A binding protein p300							112.0	94.0	100.0					22																	41533755		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41533755A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1721A>G	22.37:g.41533755A>G	ENSP00000263253:p.Asp574Gly	False	False		Somatic	0					p.D574G	NM_001429.3	NP_001420.2	WXS	Illumina HiSeq	Phase_I	Q09472	EP300_HUMAN			8	2940	+			574			KIX.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1721A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391655	0.83011	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.85	5.85	0.93711	Coactivator CBP, KIX (4);	0.000000	0.47852	D	0.000203	T	0.77870	0.4195	N	0.03608	-0.345	0.54753	D	0.999982	P	0.46987	0.888	P	0.58620	0.842	T	0.78183	-0.2303	10	0.20046	T	0.44	-11.8926	16.2444	0.82434	1.0:0.0:0.0:0.0	.	574	Q09472	EP300_HUMAN	G	574	ENSP00000263253:D574G	ENSP00000263253:D574G	D	+	2	0	EP300	39863701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	GAT		0.438	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	NM_001429		22:41533755
