#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_ACHILLES_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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ENO1	2023	broad.mit.edu	37	1	8934896	8934896	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:8934896G>C	ENST00000234590.4	-	2	191	c.72C>G	c.(70-72)ctC>ctG	p.L24L	ENO1-IT1_ENST00000414948.1_RNA	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	24					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L24L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TTGAGGTGAAGAGATCAACCT	0.438																																					Esophageal Squamous(21;302 608 19946 22210 33560)	Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(70-72)CTC>CTG		enolase 1							109.0	104.0	106.0					1																	8934896		2203	4300	6503	SO:0001819	synonymous_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8934896G>C	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.72C>G	1.37:g.8934896G>C						ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Silent_p.L24L|ENO1_uc009vmi.1_Silent_p.L24L|ENO1_uc009vmj.1_Silent_p.L24L|ENO1_uc009vmk.1_Missense_Mutation_p.S18C|ENO1_uc009vml.1_Silent_p.L24L|ENO1_uc009vmm.1_RNA	p.L24L	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	223	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	24					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	c.72C>G	CCDS97.1																																																																																				0.438	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		11	79	0	0	0	0.004007	0	11	79				
C1QB	713	broad.mit.edu	37	1	22986043	22986043	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:22986043A>C	ENST00000314933.6	+	2	226	c.94A>C	c.(94-96)Acc>Ccc	p.T32P	C1QB_ENST00000509305.1_Missense_Mutation_p.T30P	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	32					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.T32P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTCAGCTGCACCGGGCCCCC	0.597																																							uc001bgd.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(94-96)ACC>CCC		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						53.0	49.0	50.0					1																	22986043		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986043A>C	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.94A>C	1.37:g.22986043A>C	ENSP00000313967:p.Thr32Pro						p.T32P	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	226	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	32					Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.94A>C	CCDS228.1	.	.	.	.	.	.	.	.	.	.	A	7.915	0.737353	0.15574	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	4.71	-9.01	0.00744	.	1.187420	0.06233	N	0.689099	D	0.85146	0.5630	N	0.16201	0.385	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.73550	-0.3947	10	0.39692	T	0.17	.	1.0658	0.01611	0.1835:0.2252:0.1498:0.4415	.	32	P02746	C1QB_HUMAN	P	30;30;30;32	ENSP00000426317:T30P;ENSP00000423689:T30P;ENSP00000404606:T30P;ENSP00000313967:T32P	ENSP00000313967:T32P	T	+	1	0	C1QB	22858630	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.409000	0.07160	-1.732000	0.01359	-2.737000	0.00128	ACC		0.597	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		15	130	0	0	0	0.007413	0	15	130				
IQCC	55721	broad.mit.edu	37	1	32672200	32672200	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:32672200G>A	ENST00000291358.6	+	3	298	c.277G>A	c.(277-279)Gag>Aag	p.E93K	IQCC_ENST00000537469.1_Missense_Mutation_p.E173K|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	93								p.E93K(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAAGAGTCTGAGGGAGAGGC	0.532																																							uc001bum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(277-279)GAG>AAG		IQ motif containing C isoform 2							85.0	91.0	89.0					1																	32672200		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32672200G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.277G>A	1.37:g.32672200G>A	ENSP00000291358:p.Glu93Lys					IQCC_uc009vua.2_Missense_Mutation_p.E173K|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	p.E93K	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			3	324	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	93					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.277G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143360	0.37825	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.10382	2.88;2.88	4.7	3.79	0.43588	.	0.409574	0.21672	N	0.070858	T	0.17152	0.0412	M	0.68317	2.08	0.09310	N	0.999999	P;P	0.44816	0.844;0.728	P;B	0.47015	0.534;0.381	T	0.05937	-1.0855	10	0.66056	D	0.02	-5.3441	8.7045	0.34345	0.1034:0.0:0.8966:0.0	.	173;93	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	K	173;93	ENSP00000442291:E173K;ENSP00000291358:E93K	ENSP00000291358:E93K	E	+	1	0	IQCC	32444787	0.995000	0.38212	0.051000	0.19133	0.099000	0.18886	3.873000	0.56093	1.355000	0.45865	0.655000	0.94253	GAG		0.532	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		10	64	0	0	0	0.006214	0	10	64				
GRIK3	2899	broad.mit.edu	37	1	37346391	37346391	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:37346391G>T	ENST00000373091.3	-	3	410	c.394C>A	c.(394-396)Cac>Aac	p.H132N	GRIK3_ENST00000373093.4_Missense_Mutation_p.H132N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	132					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.H132N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGCTGGATGTGGGGCACCTCC	0.622																																							uc001caz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(394-396)CAC>AAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						195.0	172.0	180.0					1																	37346391		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346391G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.394C>A	1.37:g.37346391G>T	ENSP00000362183:p.His132Asn					GRIK3_uc001cba.1_Missense_Mutation_p.H132N	p.H132N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	529	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	132			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.394C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108175	0.77096	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.134765	0.52532	D	0.000064	D	0.85969	0.5821	M	0.72479	2.2	0.58432	D	0.999998	B;B	0.25486	0.127;0.054	B;B	0.37601	0.254;0.254	D	0.85445	0.1157	10	0.59425	D	0.04	.	18.1519	0.89677	0.0:0.0:1.0:0.0	.	132;132	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	132	ENSP00000362183:H132N;ENSP00000362185:H132N	ENSP00000362183:H132N	H	-	1	0	GRIK3	37118978	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.334000	0.96470	2.370000	0.80446	0.561000	0.74099	CAC		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		16	137	1	0	1.15088e-07	0.004007	1.23538e-07	16	137				
CYP4B1	1580	broad.mit.edu	37	1	47278291	47278291	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:47278291T>C	ENST00000271153.4	+	4	527	c.491T>C	c.(490-492)aTg>aCg	p.M164T	CYP4B1_ENST00000452782.2_Start_Codon_SNP_p.M1T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.M164T|CYP4B1_ENST00000371919.4_Missense_Mutation_p.M149T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	164					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.M164T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACACGTATCATGCTGGTGAGC	0.577																																							uc001cqm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)ATG>ACG		cytochrome P450, family 4, subfamily B,							148.0	126.0	134.0					1																	47278291		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278291T>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.491T>C	1.37:g.47278291T>C	ENSP00000271153:p.Met164Thr					CYP4B1_uc009vyl.1_Missense_Mutation_p.M1T|CYP4B1_uc001cqn.3_Missense_Mutation_p.M164T|CYP4B1_uc009vym.2_Missense_Mutation_p.M149T|CYP4B1_uc010omk.1_Missense_Mutation_p.M1T|CYP4B1_uc010oml.1_Missense_Mutation_p.M1T	p.M164T	NM_000779	NP_000770	P13584	CP4B1_HUMAN			4	575	+	Acute lymphoblastic leukemia(166;0.155)		164					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.491T>C	CCDS542.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041006	0.55003	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.999;0.996;0.998	D	0.85884	0.1424	10	0.87932	D	0	.	16.3337	0.83051	0.0:0.0:0.0:1.0	.	1;149;164;164	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	T	164;164;149;1;1;1	ENSP00000360991:M164T;ENSP00000271153:M164T;ENSP00000360987:M149T;ENSP00000438995:M1T;ENSP00000400413:M1T;ENSP00000437670:M1T	ENSP00000271153:M164T	M	+	2	0	CYP4B1	47050878	1.000000	0.71417	0.995000	0.50966	0.057000	0.15508	7.691000	0.84191	2.260000	0.74910	0.482000	0.46254	ATG		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		52	271	0	0	0	0.01441	0	52	271				
NFIA	4774	broad.mit.edu	37	1	61818168	61818168	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:61818168G>C	ENST00000403491.3	+	5	1231	c.747G>C	c.(745-747)ttG>ttC	p.L249F	NFIA_ENST00000371187.3_Missense_Mutation_p.L249F|NFIA_ENST00000371191.1_Missense_Mutation_p.L272F|NFIA_ENST00000371189.4_Missense_Mutation_p.L294F|NFIA_ENST00000371185.2_Missense_Mutation_p.L227F|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.L249F|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.L241F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	249					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L294F(2)|p.L249F(2)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTCAGATTTGGAAAGTTCTT	0.378																																							uc001czw.2		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)|skin(1)	2						c.(745-747)TTG>TTC		nuclear factor I/A isoform 1							89.0	89.0	89.0					1																	61818168		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61818168G>C	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.747G>C	1.37:g.61818168G>C	ENSP00000384523:p.Leu249Phe					NFIA_uc001czy.2_Missense_Mutation_p.L241F|NFIA_uc010oos.1_Missense_Mutation_p.L294F|NFIA_uc001czv.2_Missense_Mutation_p.L249F	p.L249F	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			5	1231	+			249					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.747G>C	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521242	0.85600	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.85	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.72819	0.3508	M	0.81497	2.545	0.58432	D	0.999991	B;D;D;D	0.69078	0.288;0.997;0.997;0.997	B;D;D;D	0.79108	0.22;0.992;0.992;0.986	T	0.76868	-0.2800	10	0.66056	D	0.02	-12.8368	13.7114	0.62670	0.0756:0.0:0.9244:0.0	.	294;272;249;249	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	F	272;241;294;249;249;227;249	ENSP00000360233:L272F;ENSP00000384680:L241F;ENSP00000360231:L294F;ENSP00000384523:L249F;ENSP00000419785:L249F;ENSP00000360227:L227F;ENSP00000360229:L249F	ENSP00000360227:L227F	L	+	3	2	NFIA	61590756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.037000	0.70956	1.441000	0.47550	0.650000	0.86243	TTG		0.378	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		12	117	0	0	0	0.004007	0	12	117				
ANKRD13C	81573	broad.mit.edu	37	1	70819665	70819665	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:70819665G>C	ENST00000370944.4	-	1	740	c.427C>G	c.(427-429)Cac>Gac	p.H143D	HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000359875.5_5'Flank|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.H143D	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	143					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.H143D(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCTCACCGTGATTATCTTTC	0.602																																							uc001dex.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CAC>GAC		ankyrin repeat domain 13C							59.0	53.0	55.0					1																	70819665		2203	4300	6503	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819665G>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.427C>G	1.37:g.70819665G>C	ENSP00000359982:p.His143Asp					ANKRD13C_uc009wbk.2_Missense_Mutation_p.H143D|ANKRD13C_uc001dey.3_Missense_Mutation_p.H143D|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	p.H143D	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			1	753	-			143			ANK 2.		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.427C>G	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673855	0.88445	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.30182	1.54;1.54	4.51	4.51	0.55191	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	N	0.01771	-0.73	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.83275	0.963;0.996;0.969	T	0.44050	-0.9353	10	0.27082	T	0.32	.	16.4922	0.84205	0.0:0.0:1.0:0.0	.	143;143;143	Q8N6S4-2;Q8N6S4-3;Q8N6S4	.;.;AN13C_HUMAN	D	143	ENSP00000359982:H143D;ENSP00000262346:H143D	ENSP00000262346:H143D	H	-	1	0	ANKRD13C	70592253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.646000	0.91053	2.490000	0.84030	0.462000	0.41574	CAC		0.602	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		5	34	0	0	0	0.001168	0	5	34				
ELTD1	64123	broad.mit.edu	37	1	79412033	79412033	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:79412033C>T	ENST00000370742.3	-	3	314	c.251G>A	c.(250-252)tGt>tAt	p.C84Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	84	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.C84Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363																																							uc001diq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)TGT>TAT		EGF, latrophilin and seven transmembrane domain							92.0	88.0	89.0					1																	79412033		1891	4120	6011	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79412033C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.251G>A	1.37:g.79412033C>T	ENSP00000359778:p.Cys84Tyr						p.C84Y	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	3	407	-			84			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.251G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183680	0.78677	.	.	ENSG00000162618	ENST00000370742	D	0.99445	-5.91	5.03	5.03	0.67393	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96813	0.9598	9	.	.	.	.	18.3639	0.90384	0.0:1.0:0.0:0.0	.	84	Q9HBW9	ELTD1_HUMAN	Y	84	ENSP00000359778:C84Y	.	C	-	2	0	ELTD1	79184621	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.837000	0.69381	2.324000	0.78689	0.650000	0.86243	TGT		0.363	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		9	59	0	0	0	0.006214	0	9	59				
EXTL2	2135	broad.mit.edu	37	1	101339615	101339615	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:101339615C>A	ENST00000370114.3	-	5	2312	c.876G>T	c.(874-876)caG>caT	p.Q292H	EXTL2_ENST00000370113.3_Missense_Mutation_p.Q292H|EXTL2_ENST00000535414.1_Missense_Mutation_p.Q279H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	292	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AATAAGACCTCTGCAGAGCGT	0.393																																							uc001dtk.1		NA																	0				skin(1)	1						c.(874-876)CAG>CAT		exostoses-like 2							82.0	78.0	79.0					1																	101339615		2203	4298	6501	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339615C>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.876G>T	1.37:g.101339615C>A	ENSP00000359132:p.Gln292His					EXTL2_uc001dtl.1_Missense_Mutation_p.Q292H|EXTL2_uc010ouk.1_Missense_Mutation_p.Q279H|EXTL2_uc001dtm.1_Missense_Mutation_p.Q291H	p.Q292H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	1213	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	292			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.876G>T	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713717	0.48517	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	D;D;D	0.86694	-2.16;-2.16;-2.16	5.84	4.92	0.64577	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.982	D	0.91827	0.5472	10	0.87932	D	0	-13.952	12.2434	0.54555	0.0:0.8618:0.0:0.1382	.	291;292	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	H	292;292;279	ENSP00000359132:Q292H;ENSP00000359131:Q292H;ENSP00000444385:Q279H	ENSP00000359131:Q292H	Q	-	3	2	EXTL2	101112203	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	3.653000	0.54446	1.454000	0.47793	0.563000	0.77884	CAG		0.393	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		17	152	1	0	1.15919e-05	0.008871	1.23138e-05	17	152				
KIAA1324	57535	broad.mit.edu	37	1	109716178	109716178	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:109716178T>C	ENST00000369939.3	+	6	962	c.779T>C	c.(778-780)cTg>cCg	p.L260P	KIAA1324_ENST00000529753.1_Splice_Site_p.L260P	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	260					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.L260P(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AAGCCTGTGCTGGTGAGAAAC	0.493																																							uc001dwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(778-780)CTG>CCG		hypothetical protein LOC57535 precursor							154.0	136.0	142.0					1																	109716178		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109716178T>C	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.779T>C	1.37:g.109716178T>C	ENSP00000358955:p.Leu260Pro					KIAA1324_uc009wex.1_Missense_Mutation_p.L260P|KIAA1324_uc009wey.2_Missense_Mutation_p.L260P|KIAA1324_uc010ovg.1_Missense_Mutation_p.L158P	p.L260P	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	7	915	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	260			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.779T>C	CCDS794.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145284	0.77888	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.42513	1.44;1.44;0.97	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	T	0.51449	0.1675	L	0.56280	1.765	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.56523	-0.7965	10	0.66056	D	0.02	-24.0051	14.8585	0.70359	0.0:0.0:0.0:1.0	.	260;260;260;260	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	P	260	ENSP00000358955:L260P;ENSP00000393964:L260P;ENSP00000434595:L260P	ENSP00000358955:L260P	L	+	2	0	KIAA1324	109517701	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.885000	0.87282	1.995000	0.58328	0.524000	0.50904	CTG		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		5	152	0	0	0	0.001984	0	5	152				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																							uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	48	0	0	0	0.009096	0	4	48				
TCHH	7062	broad.mit.edu	37	1	152083948	152083948	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152083948T>A	ENST00000368804.1	-	2	1744	c.1745A>T	c.(1744-1746)gAg>gTg	p.E582V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	582	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E582V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTCCTCGCGCTTCAG	0.667																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1744-1746)GAG>GTG		trichohyalin							47.0	52.0	51.0					1																	152083948		1979	4156	6135	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083948T>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1745A>T	1.37:g.152083948T>A	ENSP00000357794:p.Glu582Val					TCHH_uc009wne.1_Missense_Mutation_p.E582V	p.E582V	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1745	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		582			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1745A>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	t	9.962	1.223086	0.22457	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	2.46	1.32	0.21799	.	.	.	.	.	T	0.02610	0.0079	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.54889	0.763	T	0.47787	-0.9090	9	0.30854	T	0.27	.	5.4219	0.16405	0.0:0.1635:0.0:0.8365	.	582	Q07283	TRHY_HUMAN	V	582	ENSP00000357794:E582V	ENSP00000357794:E582V	E	-	2	0	TCHH	150350572	0.358000	0.24947	0.008000	0.14137	0.159000	0.22180	1.088000	0.30877	1.154000	0.42482	0.157000	0.16456	GAG		0.667	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	43	0	0	0	0.004482	0	7	43				
HRNR	388697	broad.mit.edu	37	1	152190895	152190895	+	Silent	SNP	T	T	G	rs144504025		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152190895T>G	ENST00000368801.2	-	3	3285	c.3210A>C	c.(3208-3210)tcA>tcC	p.S1070S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1070					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1070S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAATGACCTGAGCTAGATC	0.562																																							uc001ezt.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(3208-3210)TCA>TCC		hornerin							243.0	267.0	259.0					1																	152190895		2202	4300	6502	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190895T>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3210A>C	1.37:g.152190895T>G							p.S1070S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3286	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1070			12.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.3210A>C	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	310	0	0	0	0.008291	0	8	310				
FLG2	388698	broad.mit.edu	37	1	152323126	152323126	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:152323126G>C	ENST00000388718.5	-	3	7208	c.7136C>G	c.(7135-7137)tCa>tGa	p.S2379*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2379					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2379*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGTTGACCATGAAAG	0.438																																							uc001ezw.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(7135-7137)TCA>TGA		filaggrin family member 2							162.0	154.0	157.0					1																	152323126		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152323126G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.7136C>G	1.37:g.152323126G>C	ENSP00000373370:p.Ser2379*					uc001ezv.2_Intron	p.S2379*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7209	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2379					Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.7136C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	45	11.387430	0.99554	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.14	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.24566	N	0.993949	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	15.8276	5.2175	0.15350	0.1081:0.0:0.6914:0.2005	.	.	.	.	X	2379	.	ENSP00000373370:S2379X	S	-	2	0	FLG2	150589750	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.948000	0.29096	0.492000	0.27815	-0.460000	0.05396	TCA		0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		44	270	0	0	0	0.01441	0	44	270				
IL6R	3570	broad.mit.edu	37	1	154420621	154420621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:154420621G>C	ENST00000368485.3	+	7	1407	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	IL6R_ENST00000344086.4_Missense_Mutation_p.E324Q|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	324					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.E324Q(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TCCTCCAGCTGAGAACGAGGT	0.542																																							uc001fez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(970-972)GAG>CAG		interleukin 6 receptor isoform 1 precursor							107.0	107.0	107.0					1																	154420621		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154420621G>C	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.970G>C	1.37:g.154420621G>C	ENSP00000357470:p.Glu324Gln					IL6R_uc001ffa.1_Missense_Mutation_p.E324Q	p.E324Q	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1407	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		324			Extracellular (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.970G>C	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070801	0.07228	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	T;T	0.18338	2.3;2.22	3.96	-1.34	0.09143	.	7.495970	0.00357	N	0.000027	T	0.07279	0.0184	M	0.72894	2.215	0.09310	N	1	P;P	0.41910	0.764;0.497	B;B	0.42214	0.38;0.091	T	0.12915	-1.0529	10	0.27785	T	0.31	1.2744	0.7041	0.00913	0.3031:0.1822:0.3519:0.1629	.	324;324	P08887-2;P08887	.;IL6RA_HUMAN	Q	324	ENSP00000357470:E324Q;ENSP00000340589:E324Q	ENSP00000340589:E324Q	E	+	1	0	IL6R	152687245	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.083000	0.14871	-0.252000	0.09528	-0.211000	0.12701	GAG		0.542	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		20	133	0	0	0	0.021523	0	20	133				
DCST2	127579	broad.mit.edu	37	1	155001740	155001740	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155001740C>T	ENST00000368424.3	-	8	1369	c.1311G>A	c.(1309-1311)cgG>cgA	p.R437R	DCST2_ENST00000295536.5_Silent_p.R437R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	437						integral component of membrane (GO:0016021)		p.R437R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCTGGTGCCGGGCCAGGT	0.587																																							uc001fgm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1309-1311)CGG>CGA		DC-STAMP domain containing 2							82.0	80.0	80.0					1																	155001740		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155001740C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1311G>A	1.37:g.155001740C>T						DCST2_uc009wpb.2_RNA	p.R437R	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1391	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		437			Extracellular (Potential).		Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.1311G>A	CCDS1082.2																																																																																				0.587	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		8	98	0	0	0	0.008291	0	8	98				
SCAMP3	10067	broad.mit.edu	37	1	155230148	155230148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155230148G>A	ENST00000302631.3	-	4	468	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Nonsense_Mutation_p.Q95*|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	121					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.Q121*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGCATGCTGCAGCTCTCGC	0.587																																							uc001fjs.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(361-363)CAG>TAG		secretory carrier membrane protein 3 isoform 1							93.0	86.0	89.0					1																	155230148		2203	4300	6503	SO:0001587	stop_gained	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155230148G>A	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.361C>T	1.37:g.155230148G>A	ENSP00000307275:p.Gln121*					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjv.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q95*	p.Q121*	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	614	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		121			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Nonsense_Mutation	SNP	ENST00000302631.3	37	c.361C>T	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	36	5.726504	0.96847	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	.	.	.	4.2	4.2	0.49525	.	0.415949	0.24463	N	0.038309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.5454	14.4445	0.67340	0.0:0.0:1.0:0.0	.	.	.	.	X	121;95	.	ENSP00000307275:Q121X	Q	-	1	0	SCAMP3	153496772	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.037000	0.49775	2.334000	0.79466	0.650000	0.86243	CAG		0.587	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		21	126	0	0	0	0.021523	0	21	126				
FCRL3	115352	broad.mit.edu	37	1	157665172	157665172	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:157665172G>T	ENST00000368184.3	-	8	1649	c.1358C>A	c.(1357-1359)gCa>gAa	p.A453E	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A453E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	453	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A453E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCATTGTCTGCATCACAGGA	0.537																																							uc001frb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1357-1359)GCA>GAA		Fc receptor-like 3 precursor							157.0	154.0	155.0					1																	157665172		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665172G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1358C>A	1.37:g.157665172G>T	ENSP00000357167:p.Ala453Glu					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A453E|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A179E|FCRL3_uc001frc.1_Missense_Mutation_p.A453E	p.A453E	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			8	1650	-	all_hematologic(112;0.0378)		453			Ig-like C2-type 5.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1358C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.576906	0.65878	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.04360	3.64;3.64	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000221	T	0.27205	0.0667	H	0.98370	4.215	0.29921	N	0.82272	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.53549	-0.8423	10	0.87932	D	0	.	14.1697	0.65500	0.0:0.0:1.0:0.0	.	453;358;453	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	453	ENSP00000357169:A453E;ENSP00000357167:A453E	ENSP00000292392:A453E	A	-	2	0	FCRL3	155931796	0.995000	0.38212	0.986000	0.45419	0.495000	0.33615	2.908000	0.48750	2.392000	0.81423	0.563000	0.77884	GCA		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		54	633	1	0	1.93748e-29	0.01441	2.40812e-29	54	633				
ATP1A4	480	broad.mit.edu	37	1	160141394	160141394	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:160141394G>C	ENST00000368081.4	+	12	2172	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	567					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.L567L(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTGAATCTGCCTAGCAGCT	0.458																																							uc001fve.3		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(2)|skin(2)	4						c.(1699-1701)CTG>CTC		Na+/K+ -ATPase alpha 4 subunit isoform 1							142.0	158.0	152.0					1																	160141394		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141394G>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1701G>C	1.37:g.160141394G>C						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.L70L	p.L567L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		12	2180	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		567			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1701G>C	CCDS1197.1																																																																																				0.458	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		5	213	0	0	0	0.001168	0	5	213				
RALGPS2	55103	broad.mit.edu	37	1	178745932	178745932	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:178745932C>G	ENST00000367635.3	+	2	371	c.33C>G	c.(31-33)gtC>gtG	p.V11V	RALGPS2_ENST00000367634.2_Silent_p.V11V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	11					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V11V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAGCAGTGTCAATATTGCAG	0.433																																							uc001glz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GTC>GTG		Ral GEF with PH domain and SH3 binding motif 2							125.0	105.0	112.0					1																	178745932		2203	4300	6503	SO:0001819	synonymous_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178745932C>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.33C>G	1.37:g.178745932C>G						RALGPS2_uc001gly.1_Silent_p.V11V|RALGPS2_uc010pnb.1_Silent_p.V11V	p.V11V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			2	371	+			11					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	c.33C>G	CCDS1325.1																																																																																				0.433	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		28	241	0	0	0	0.015359	0	28	241				
BRINP3	339479	broad.mit.edu	37	1	190195450	190195450	+	Splice_Site	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:190195450T>A	ENST00000367462.3	-	6	956		c.e6-2		BRINP3_ENST00000534846.1_Splice_Site|BRINP3_ENST00000463404.1_5'Flank	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.?(1)									CTTGAAGCCCTTGAAGAACAA	0.303																																							uc001gse.1		NA																	1	Unknown(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.e6-1		family with sequence similarity 5, member C							47.0	46.0	47.0					1																	190195450		2203	4299	6502	SO:0001630	splice_region_variant	339479					extracellular region		g.chr1:190195450T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.725-2A>T	1.37:g.190195450T>A						FAM5C_uc010pot.1_Splice_Site_p.G140_splice	p.G242_splice	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	957	-	Prostate(682;0.198)							B3KVP1|B7Z260|O95726|Q2M330	Splice_Site	SNP	ENST00000367462.3	37	c.725_splice	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827935	0.71143	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1188	0.65172	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM5C	188462073	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	5.817000	0.69229	2.210000	0.71456	0.533000	0.62120	.		0.303	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	Intron	14	57	0	0	0	0.004007	0	14	57				
C1orf186	440712	broad.mit.edu	37	1	206241647	206241647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:206241647C>A	ENST00000331555.5	-	4	780	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	48						integral component of membrane (GO:0016021)		p.A48S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGAGACTGGCCGCTTTCAGT	0.557																																							uc001hdt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GCC>TCC		hypothetical protein LOC440712							65.0	64.0	64.0					1																	206241647		2203	4300	6503	SO:0001583	missense	440712					integral to membrane		g.chr1:206241647C>A	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.142G>T	1.37:g.206241647C>A	ENSP00000356093:p.Ala48Ser						p.A48S	NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		4	781	-			48						Missense_Mutation	SNP	ENST00000331555.5	37	c.142G>T	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	C	2.050	-0.417845	0.04766	.	.	ENSG00000196533	ENST00000331555	.	.	.	2.91	-2.31	0.06765	.	.	.	.	.	T	0.22044	0.0531	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.16541	-1.0399	8	0.38643	T	0.18	-15.8505	3.4175	0.07381	0.1865:0.3483:0.0:0.4651	.	48	Q6ZWK4	CA186_HUMAN	S	48	.	ENSP00000356093:A48S	A	-	1	0	C1orf186	204408270	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.939000	0.03933	-0.591000	0.05859	-1.974000	0.00461	GCC		0.557	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		6	57	1	0	0.00198382	0.001984	0.00205754	6	57				
C1orf74	148304	broad.mit.edu	37	1	209956824	209956824	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:209956824T>A	ENST00000294811.1	-	2	412	c.156A>T	c.(154-156)ccA>ccT	p.P52P		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	52								p.P52P(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AGAGCACAGCTGGCTTCAGTC	0.577																																							uc001hhp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(154-156)CCA>CCT		hypothetical protein LOC148304							63.0	62.0	62.0					1																	209956824		2203	4300	6503	SO:0001819	synonymous_variant	148304							g.chr1:209956824T>A	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.156A>T	1.37:g.209956824T>A							p.P52P	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	399	-			52						Silent	SNP	ENST00000294811.1	37	c.156A>T	CCDS1491.1																																																																																				0.577	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		27	203	0	0	0	0.005443	0	27	203				
ESRRG	2104	broad.mit.edu	37	1	216824354	216824354	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:216824354G>T	ENST00000408911.3	-	3	703	c.550C>A	c.(550-552)Cgc>Agc	p.R184S	ESRRG_ENST00000487276.1_Missense_Mutation_p.R161S|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161S|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161S|ESRRG_ENST00000391890.3_Missense_Mutation_p.R161S|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161S|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189S|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161S|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161S|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161S|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161S|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R184S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTCATGAAGCGGCAAGCCTGG	0.448																																							uc001hkw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(550-552)CGC>AGC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						142.0	133.0	136.0					1																	216824354		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216824354G>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.550C>A	1.37:g.216824354G>T	ENSP00000386171:p.Arg184Ser					ESRRG_uc001hky.1_Missense_Mutation_p.R161S|ESRRG_uc009xdp.1_Missense_Mutation_p.R161S|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.R161S|ESRRG_uc001hla.1_Missense_Mutation_p.R161S|ESRRG_uc001hlb.1_Missense_Mutation_p.R161S|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.R161S|ESRRG_uc001hld.1_Missense_Mutation_p.R161S|ESRRG_uc001hkx.1_Missense_Mutation_p.R189S|ESRRG_uc009xdo.1_Missense_Mutation_p.R161S|ESRRG_uc001hle.1_Missense_Mutation_p.R161S	p.R184S	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	3	716	-			184			Nuclear receptor.|NR C4-type.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.550C>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366488	0.95900	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.74	5.74	0.90152	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.94964	3.605	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.79784	0.979;0.993	D	0.98614	1.0664	10	0.87932	D	0	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	189;184	F8W8J3;P62508	.;ERR3_HUMAN	S	161;161;189;184;161;161;161;161;161;161;161;161;161;161	ENSP00000355225:R161S;ENSP00000355907:R161S;ENSP00000355904:R189S;ENSP00000386171:R184S;ENSP00000352077:R161S;ENSP00000354584:R161S;ENSP00000355905:R161S;ENSP00000353108:R161S;ENSP00000419594:R161S;ENSP00000375761:R161S;ENSP00000419155:R161S;ENSP00000417374:R161S;ENSP00000419514:R161S	ENSP00000346386:R161S	R	-	1	0	ESRRG	214890977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.695000	0.91970	0.655000	0.94253	CGC		0.448	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		42	104	1	0	2.46787e-29	0.01441	3.05499e-29	42	104				
ABCB10	23456	broad.mit.edu	37	1	229683401	229683401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:229683401G>C	ENST00000344517.4	-	3	808	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L256V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCTGCCTCAGAATGGAGGAG	0.478																																							uc001htp.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(766-768)CTG>GTG		ATP-binding cassette, sub-family B, member 10							64.0	67.0	66.0					1																	229683401		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229683401G>C	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.766C>G	1.37:g.229683401G>C	ENSP00000355637:p.Leu256Val						p.L256V	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			3	809	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	256			Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.766C>G	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226202	0.39300	.	.	ENSG00000135776	ENST00000344517	D	0.91843	-2.92	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.065772	0.64402	D	0.000009	D	0.87229	0.6125	L	0.48218	1.51	0.54753	D	0.99998	B	0.21225	0.053	B	0.26770	0.073	T	0.80420	-0.1390	10	0.28530	T	0.3	-14.9697	5.9926	0.19476	0.0738:0.136:0.6494:0.1407	.	256	Q9NRK6	ABCBA_HUMAN	V	256	ENSP00000355637:L256V	ENSP00000355637:L256V	L	-	1	2	ABCB10	227750024	0.985000	0.35326	0.960000	0.40013	0.978000	0.69477	1.613000	0.36900	2.676000	0.91093	0.561000	0.74099	CTG		0.478	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		16	74	0	0	0	0.00499	0	16	74				
HEATR1	55127	broad.mit.edu	37	1	236755306	236755306	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:236755306C>A	ENST00000366582.3	-	11	1523	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	HEATR1_ENST00000366581.2_Missense_Mutation_p.G470V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	470					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.G470V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATACTTTCCTCCACTTGTAGA	0.368																																							uc001hyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1408-1410)GGA>GTA		protein BAP28							114.0	114.0	114.0					1																	236755306		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236755306C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1409G>T	1.37:g.236755306C>A	ENSP00000355541:p.Gly470Val						p.G470V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1534	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	470					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1409G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507439	0.64410	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;3.39	4.84	4.84	0.62591	Armadillo-type fold (1);	0.099775	0.64402	D	0.000001	T	0.73953	0.3653	M	0.64997	1.995	0.80722	D	1	D	0.61080	0.989	P	0.53593	0.73	T	0.71682	-0.4519	10	0.30078	T	0.28	.	18.5	0.90877	0.0:1.0:0.0:0.0	.	470	Q9H583	HEAT1_HUMAN	V	470	ENSP00000355541:G470V;ENSP00000355540:G470V	ENSP00000355540:G470V	G	-	2	0	HEATR1	234821929	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.076000	0.71267	2.668000	0.90789	0.650000	0.86243	GGA		0.368	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		25	100	1	0	3.90053e-15	0.012213	4.51872e-15	25	100				
OR2M4	26245	broad.mit.edu	37	1	248402705	248402705	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:248402705G>A	ENST00000306687.1	+	1	475	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	159					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V159M(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGATCATAGTGCTTGCAGC	0.453																																							uc010pzh.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(475-477)GTG>ATG		olfactory receptor, family 2, subfamily M,							149.0	132.0	138.0					1																	248402705		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402705G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.475G>A	1.37:g.248402705G>A	ENSP00000306688:p.Val159Met						p.V159M	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	475	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		159			Extracellular (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.475G>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	4.547	0.101539	0.08731	.	.	ENSG00000171180	ENST00000306687	T	0.00152	8.66	3.48	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	1.707030	0.03965	N	0.290730	T	0.00210	0.0006	L	0.28504	0.86	0.09310	N	1	P	0.48407	0.91	P	0.51582	0.674	T	0.48127	-0.9062	10	0.34782	T	0.22	.	5.3411	0.15984	0.3545:0.0:0.6455:0.0	.	159	Q96R27	OR2M4_HUMAN	M	159	ENSP00000306688:V159M	ENSP00000306688:V159M	V	+	1	0	OR2M4	246469328	0.000000	0.05858	0.008000	0.14137	0.108000	0.19459	-0.448000	0.06820	0.780000	0.33566	0.536000	0.68110	GTG		0.453	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		90	264	0	0	0	0.01441	0	90	264				
OR2T4	127074	broad.mit.edu	37	1	248525348	248525348	+	Missense_Mutation	SNP	G	G	A	rs141849195	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:248525348G>A	ENST00000366475.1	+	1	466	c.466G>A	c.(466-468)Gtg>Atg	p.V156M		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V156M(1)|p.V156L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACCGCTACGTGGCCATCTG	0.527													g|||	3	0.000599042	0.0	0.0	5008	,	,		20843	0.0		0.003	False		,,,				2504	0.0						uc001ieh.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(466-468)GTG>ATG		olfactory receptor, family 2, subfamily T,		G	MET/VAL	0,4406		0,0,2203	224.0	202.0	210.0		466	-4.4	0.0	1	dbSNP_134	210	8,8592	6.4+/-24.3	0,8,4292	no	missense	OR2T4	NM_001004696.1	21	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign	156/349	248525348	8,12998	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525348G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.466G>A	1.37:g.248525348G>A	ENSP00000355431:p.Val156Met						p.V156M	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	466	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		156			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.466G>A	CCDS31113.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	10.45	1.353922	0.24512	0.0	9.3E-4	ENSG00000196944	ENST00000366475	T	0.01388	4.95	3.48	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	1.065220	0.07380	N	0.887402	T	0.01661	0.0053	L	0.47016	1.485	0.21802	N	0.999535	B	0.31910	0.346	B	0.32624	0.149	T	0.38286	-0.9668	10	0.59425	D	0.04	.	6.5048	0.22188	0.4353:0.1179:0.4468:0.0	.	156	Q8NH00	OR2T4_HUMAN	M	156	ENSP00000355431:V156M	ENSP00000355431:V156M	V	+	1	0	OR2T4	246591971	0.105000	0.21958	0.001000	0.08648	0.732000	0.41865	0.581000	0.23819	-1.144000	0.02862	0.485000	0.47835	GTG		0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		46	498	0	0	0	0.01441	0	46	498				
ANKRD16	54522	broad.mit.edu	37	10	5922263	5922263	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:5922263G>C	ENST00000380094.5	-	6	1469	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.S309*	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	309								p.S309*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AACGGTACCTGATCGATTTTT	0.284																																							uc010qat.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(925-927)TCA>TGA		ankyrin repeat domain 16 isoform a							75.0	73.0	74.0					10																	5922263		2203	4300	6503	SO:0001587	stop_gained	54522							g.chr10:5922263G>C	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.926C>G	10.37:g.5922263G>C	ENSP00000369436:p.Ser309*					ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Nonsense_Mutation_p.S309*|ANKRD16_uc001iiq.2_Intron	p.S309*	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			6	1469	-			309			ANK 9.		A6NEF0|F8WEI4|Q9NT01	Nonsense_Mutation	SNP	ENST00000380094.5	37	c.926C>G	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	39	7.751589	0.98468	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	.	.	.	4.41	4.41	0.53225	.	0.233665	0.36409	N	0.002605	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9681	15.6324	0.76920	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000369434:S309X	S	-	2	0	ANKRD16	5962269	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.878000	0.69682	2.023000	0.59567	0.478000	0.44815	TCA		0.284	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		3	35	0	0	0	0.001168	0	3	35				
TAF3	83860	broad.mit.edu	37	10	8007006	8007006	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:8007006G>A	ENST00000344293.5	+	3	1739	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	511	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.E511E(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGTATGAGGAGAAAACCAAGC	0.453																																							uc010qbd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1531-1533)GAG>GAA		RNA polymerase II transcription factor TAFII140							82.0	78.0	79.0					10																	8007006		1868	4101	5969	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007006G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1533G>A	10.37:g.8007006G>A							p.E511E	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	1533	+			511			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.1533G>A	CCDS41487.1																																																																																				0.453	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		20	200	0	0	0	0.01892	0	20	200				
SLC18A3	6572	broad.mit.edu	37	10	50819359	50819359	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:50819359C>T	ENST00000374115.3	+	1	1013	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	191					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.F191F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCAGCCTTCGCCGACACGT	0.657																																							uc001jhw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(571-573)TTC>TTT		vesicular acetylcholine transporter							29.0	32.0	31.0					10																	50819359		2203	4299	6502	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819359C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.573C>T	10.37:g.50819359C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.F191F	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1013	+			191			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.573C>T	CCDS7231.1																																																																																				0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		8	17	0	0	0	0.006214	0	8	17				
DUPD1	338599	broad.mit.edu	37	10	76818123	76818123	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:76818123G>C	ENST00000338487.5	-	1	149	c.150C>G	c.(148-150)ccC>ccG	p.P50P		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	50					protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P50P(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGTGTACTGGGGACTGCCCT	0.637																																							uc001jwq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(148-150)CCC>CCG		dual specificity phosphatase and pro isomerase							112.0	93.0	100.0					10																	76818123		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76818123G>C		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.150C>G	10.37:g.76818123G>C							p.P50P	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			1	150	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		50					B2RP93	Silent	SNP	ENST00000338487.5	37	c.150C>G	CCDS31223.1																																																																																				0.637	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		7	71	0	0	0	0.004482	0	7	71				
ZNF503	84858	broad.mit.edu	37	10	77160865	77160865	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:77160865C>T	ENST00000372524.4	-	1	799	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.E105K|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	105					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E105K(2)|p.S36L(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCCTTACCTCGATGGGGCTG	0.627																																							uc001jxg.2		NA																	3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(1)	1						c.(313-315)GAG>AAG		zinc finger protein 503							61.0	53.0	55.0					10																	77160865		2203	4300	6503	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77160865C>T	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.313G>A	10.37:g.77160865C>T	ENSP00000361602:p.Glu105Lys					C10orf41_uc010qlf.1_5'Flank|C10orf41_uc010qlg.1_5'Flank	p.E105K	NM_032772	NP_116161	Q96F45	ZN503_HUMAN			1	649	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		105					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.313G>A	CCDS7350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.079182|5.079182	0.94050|0.94050	.|.	.|.	ENSG00000165655|ENSG00000233745	ENST00000372524;ENST00000535216;ENST00000372516|ENST00000438638	T;T|.	0.51071|.	0.72;0.72|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68595|0.68595	0.3018|0.3018	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	P|.	0.46277|.	0.875|.	B|.	0.38985|.	0.287|.	T|T	0.72874|0.72874	-0.4160|-0.4160	10|6	0.41790|0.87932	T|D	0.15|0	-28.6183|-28.6183	17.5667|17.5667	0.87922|0.87922	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105|.	Q96F45|.	ZN503_HUMAN|.	K|L	105|36	ENSP00000361602:E105K;ENSP00000438988:E105K|.	ENSP00000361594:E105K|ENSP00000391835:S36L	E|S	-|+	1|2	0|0	ZNF503|AC010997.1	76830871|76830871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.566000|7.566000	0.82347|0.82347	2.377000|2.377000	0.81083|0.81083	0.448000|0.448000	0.29417|0.29417	GAG|TCG		0.627	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		3	16	0	0	0	0.004672	0	3	16				
PPIF	10105	broad.mit.edu	37	10	81112122	81112122	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:81112122C>T	ENST00000225174.3	+	5	533	c.462C>T	c.(460-462)ttC>ttT	p.F154F	PPIF_ENST00000394579.3_Intron	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	154	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.F154F(1)		endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	GCTCCCAGTTCTTCATCTGCA	0.592																																							uc001kai.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(460-462)TTC>TTT		peptidylprolyl isomerase F precursor	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						149.0	123.0	132.0					10																	81112122		2203	4300	6503	SO:0001819	synonymous_variant	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81112122C>T	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.462C>T	10.37:g.81112122C>T						PPIF_uc001kaj.2_Intron	p.F154F	NM_005729	NP_005720	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		5	547	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		154			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Silent	SNP	ENST00000225174.3	37	c.462C>T	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389836	0.25118	.	.	ENSG00000108179	ENST00000448165	.	.	.	5.8	3.94	0.45596	.	.	.	.	.	T	0.63450	0.2512	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62431	-0.6856	4	.	.	.	-33.3699	12.6238	0.56618	0.0:0.8624:0.0:0.1376	.	.	.	.	F	118	.	.	S	+	2	0	PPIF	80782128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.906000	0.39887	1.456000	0.47831	-0.140000	0.14226	TCT		0.592	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		7	99	0	0	0	0.006214	0	7	99				
IFIT1B	439996	broad.mit.edu	37	10	91144396	91144396	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:91144396C>T	ENST00000371809.3	+	2	1406	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	442								p.L442L(1)		endometrium(2)|large_intestine(3)|lung(8)	13						GTGTCAGCCTCCTTGGGCTTA	0.428																																							uc001kgh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1324-1326)CTC>CTT		interferon-induced protein with							181.0	187.0	185.0					10																	91144396		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91144396C>T		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1326C>T	10.37:g.91144396C>T						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.L442L	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	1406	+			442			TPR 8.		A7E245	Silent	SNP	ENST00000371809.3	37	c.1326C>T	CCDS31242.1																																																																																				0.428	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		102	408	0	0	0	0.01441	0	102	408				
MMS19	64210	broad.mit.edu	37	10	99238086	99238086	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:99238086G>C	ENST00000438925.2	-	4	658	c.323C>G	c.(322-324)tCt>tGt	p.S108C	MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327277.7_De_novo_Start_OutOfFrame|MMS19_ENST00000327238.10_Missense_Mutation_p.S108C|MMS19_ENST00000370782.2_Missense_Mutation_p.S108C|MMS19_ENST00000355839.6_Missense_Mutation_p.S108C	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	108					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.S108C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGCAGGACAGATGGGATCAC	0.463								Direct reversal of damage																															uc001kns.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(322-324)TCT>TGT	Direct_reversal_of_damage|NER	MMS19 nucleotide excision repair homolog							102.0	76.0	85.0					10																	99238086		2203	4299	6502	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99238086G>C	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.323C>G	10.37:g.99238086G>C	ENSP00000412698:p.Ser108Cys					MMS19_uc009xvt.2_Translation_Start_Site|MMS19_uc001knr.2_Translation_Start_Site|MMS19_uc010qox.1_Missense_Mutation_p.S129C|MMS19_uc001knt.2_Missense_Mutation_p.S108C|MMS19_uc001knu.1_5'Flank	p.S108C	NM_022362	NP_071757	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	4	548	-		Colorectal(252;0.0846)	108					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.323C>G	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978150	0.53720	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839;ENST00000437002;ENST00000422685	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;1.45;2.19	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.283230	0.39909	N	0.001236	T	0.59088	0.2168	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.49683	0.619;0.619	T	0.57596	-0.7784	10	0.39692	T	0.17	.	15.1985	0.73116	0.0:0.0:0.8591:0.1408	.	129;108	B4DQX2;Q96T76	.;MMS19_HUMAN	C	108;108;108;91;108;108;147	ENSP00000412698:S108C;ENSP00000359818:S108C;ENSP00000320059:S108C;ENSP00000348097:S108C;ENSP00000409425:S108C;ENSP00000391765:S147C	ENSP00000320059:S108C	S	-	2	0	MMS19	99228076	0.869000	0.29996	1.000000	0.80357	0.976000	0.68499	3.893000	0.56243	2.843000	0.97960	0.655000	0.94253	TCT		0.463	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			9	41	0	0	0	0.006214	0	9	41				
CHUK	1147	broad.mit.edu	37	10	101978567	101978567	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:101978567C>T	ENST00000370397.7	-	8	791	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.K235K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GATCCTTCTTCTTAATCTTCT	0.323																																					Ovarian(159;52 1904 10536 35305 37148)	Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(703-705)AAG>AAA		conserved helix-loop-helix ubiquitous kinase							111.0	104.0	106.0					10																	101978567		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101978567C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.705G>A	10.37:g.101978567C>T							p.K235K	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	8	760	-		Colorectal(252;0.117)	235			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.705G>A	CCDS7488.1																																																																																				0.323	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		6	165	0	0	0	0.001168	0	6	165				
NRAP	4892	broad.mit.edu	37	10	115364439	115364439	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:115364439G>C	ENST00000359988.3	-	35	4400	c.4156C>G	c.(4156-4158)Cac>Gac	p.H1386D	NRAP_ENST00000369360.3_Missense_Mutation_p.H1359D|NRAP_ENST00000360478.3_Missense_Mutation_p.H1351D|NRAP_ENST00000369358.4_Missense_Mutation_p.H1394D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.H1386D(1)		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)		GTGAACTTGTGATACTGTGTC	0.587																																							uc001laj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4156-4158)CAC>GAC		nebulin-related anchoring protein isoform S							131.0	124.0	127.0					10																	115364439		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364439G>C		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.4156C>G	10.37:g.115364439G>C	ENSP00000353078:p.His1386Asp					NRAP_uc009xyb.2_Missense_Mutation_p.H175D|NRAP_uc001lak.2_Missense_Mutation_p.H1351D|NRAP_uc001lal.3_Missense_Mutation_p.H1386D	p.H1386D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4320	-		Colorectal(252;0.0233)|Breast(234;0.188)	1386			Nebulin 36.			Missense_Mutation	SNP	ENST00000359988.3	37	c.4156C>G	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057968	0.55325	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.54	5.54	0.83059	.	0.048846	0.85682	D	0.000000	T	0.68568	0.3015	M	0.83118	2.625	0.50039	D	0.999849	D;D;D;D	0.89917	0.988;1.0;0.999;1.0	P;D;D;D	0.91635	0.899;0.999;0.999;0.999	T	0.66858	-0.5817	10	0.33141	T	0.24	.	19.4903	0.95047	0.0:0.0:1.0:0.0	.	544;1386;1351;1386	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	D	1394;1359;1386;1351;544	ENSP00000358365:H1394D;ENSP00000358367:H1359D;ENSP00000353078:H1386D;ENSP00000353666:H1351D	ENSP00000353078:H1386D	H	-	1	0	NRAP	115354429	1.000000	0.71417	0.923000	0.36655	0.071000	0.16799	9.869000	0.99810	2.622000	0.88805	0.555000	0.69702	CAC		0.587	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		10	113	0	0	0	0.013537	0	10	113				
INPP5F	22876	broad.mit.edu	37	10	121510631	121510631	+	Missense_Mutation	SNP	G	G	C	rs199760450	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:121510631G>C	ENST00000361976.2	+	2	307	c.141G>C	c.(139-141)ttG>ttC	p.L47F	INPP5F_ENST00000369083.3_Missense_Mutation_p.L47F	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L47F(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTTTGGGGTTGGTAGAAGGTG	0.328											OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001leo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(139-141)TTG>TTC		inositol polyphosphate-5-phosphatase F							190.0	177.0	181.0					10																	121510631		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121510631G>C	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.141G>C	10.37:g.121510631G>C	ENSP00000354519:p.Leu47Phe		OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1512	INPP5F_uc001len.3_Missense_Mutation_p.L47F	p.L47F	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	2	307	+		Lung NSC(174;0.109)|all_lung(145;0.142)	47					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.141G>C	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537049	0.65085	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.56776	1.01;0.44	6.08	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.63390	0.2507	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.915;0.996	T	0.59241	-0.7491	10	0.33141	T	0.24	-14.5934	10.4576	0.44559	0.2136:0.0:0.7864:0.0	.	47;47	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	F	47	ENSP00000354519:L47F;ENSP00000358079:L47F	ENSP00000354519:L47F	L	+	3	2	INPP5F	121500621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.901000	0.39838	0.882000	0.36016	0.591000	0.81541	TTG		0.328	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		4	100	0	0	0	0.001984	0	4	100				
PPAPDC1A	196051	broad.mit.edu	37	10	122334782	122334782	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:122334782C>T	ENST00000398250.1	+	6	937	c.585C>T	c.(583-585)tcC>tcT	p.S195S	PPAPDC1A_ENST00000369073.3_Silent_p.S185S|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Silent_p.S195S|PPAPDC1A_ENST00000439221.1_Silent_p.S132S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	195	Phosphatase sequence motif III.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.S195S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTGCCCTGTCCCGCATGTGCG	0.617																																							uc001lev.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(583-585)TCC>TCT		phosphatidic acid phosphatase type 2 domain							73.0	75.0	74.0					10																	122334782		2139	4242	6381	SO:0001819	synonymous_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334782C>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.585C>T	10.37:g.122334782C>T						PPAPDC1A_uc010qtd.1_Silent_p.S195S|PPAPDC1A_uc009xzl.1_Silent_p.S132S|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Silent_p.S74S	p.S195S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	937	+		Lung NSC(174;0.1)|all_lung(145;0.132)	195			Phosphatase sequence motif III.|Helical; (Potential).		A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	c.585C>T	CCDS41573.1																																																																																				0.617	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		24	261	0	0	0	0.00632	0	24	261				
OR51A2	401667	broad.mit.edu	37	11	4976704	4976705	+	Missense_Mutation	DNP	CA	CA	AT	rs530451969		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:4976704_4976705CA>AT	ENST00000380371.1	-	1	238_239	c.239_240TG>AT	c.(238-240)cTG>cAT	p.L80H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L80H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACAGTGGGCAGAGATGATAA	0.436																																							uc010qyt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CTG>CAT		olfactory receptor, family 51, subfamily A,																																				SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976704_4976705CA>AT	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.239_240delinsAT	11.37:g.4976704_4976705delinsAT	ENSP00000369729:p.Leu80His						p.L80H	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	239_240	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	80			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000380371.1	37	c.239_240TG>AT	CCDS31368.1																																																																																				0.436	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		120	140	0	0	0	0.004672	0	120	140				
OVCH2	341277	broad.mit.edu	37	11	7718296	7718296	+	RNA	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:7718296G>T	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.H326N(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGGGAAGTGCAGCTTCCCC	0.552																																							uc010rbf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(976-978)CAC>AAC		ovochymase 2 precursor							41.0	46.0	45.0					11																	7718296		2018	4171	6189			341277							g.chr11:7718296G>T	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7718296G>T							p.H326N	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	9	976	-									Missense_Mutation	SNP	ENST00000533663.1	37	c.976C>A		.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217535	0.06101	.	.	ENSG00000183378	ENST00000454689	T	0.19938	2.11	5.24	4.33	0.51752	CUB (4);	0.000000	0.48767	D	0.000179	T	0.12987	0.0315	L	0.27053	0.805	0.20873	N	0.999839	B	0.13145	0.007	B	0.12837	0.008	T	0.20505	-1.0273	10	0.27082	T	0.32	-9.3735	6.8054	0.23774	0.0899:0.0:0.7361:0.1741	.	326	Q7RTZ1	OVCH2_HUMAN	N	326	ENSP00000407158:H326N	ENSP00000407158:H326N	H	-	1	0	OVCH2	7674872	0.989000	0.36119	0.979000	0.43373	0.019000	0.09904	0.824000	0.27379	1.215000	0.43411	-0.251000	0.11542	CAC		0.552	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185		13	35	1	0	6.94344e-10	0.006122	7.69544e-10	13	35				
AMPD3	272	broad.mit.edu	37	11	10527398	10527398	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:10527398G>C	ENST00000396554.3	+	15	2639	c.2298G>C	c.(2296-2298)atG>atC	p.M766I	AMPD3_ENST00000444303.2_Missense_Mutation_p.M598I	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	757					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.M766I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGATGCTATGAAATCAGAAG	0.428																																							uc001mio.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2269-2271)ATG>ATC		adenosine monophosphate deaminase 3 isoform 1B							134.0	123.0	127.0					11																	10527398		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10527398G>C	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.2298G>C	11.37:g.10527398G>C	ENSP00000379802:p.Met766Ile					AMPD3_uc010rbz.1_Missense_Mutation_p.M598I|AMPD3_uc001min.1_Missense_Mutation_p.M766I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.M764I|AMPD3_uc009yfy.2_Missense_Mutation_p.M757I	p.M757I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	15	2606	+			757					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.2271G>C	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382132	0.42207	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.74	4.82	0.62117	.	0.129193	0.64402	D	0.000001	T	0.65386	0.2686	N	0.12887	0.27	0.43550	D	0.99585	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.59757	-0.7394	10	0.23302	T	0.38	-22.6753	15.0435	0.71811	0.0689:0.0:0.9311:0.0	.	764;757;766	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	I	598;766;757;764;757	ENSP00000396000:M598I;ENSP00000379802:M766I;ENSP00000379801:M757I;ENSP00000436987:M764I;ENSP00000431648:M757I	ENSP00000379801:M757I	M	+	3	0	AMPD3	10483974	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.944000	0.56629	2.715000	0.92844	0.655000	0.94253	ATG		0.428	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		5	241	0	0	0	0.001168	0	5	241				
CTR9	9646	broad.mit.edu	37	11	10800443	10800443	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:10800443G>A	ENST00000361367.2	+	25	3739	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1105	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.E1105K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCTGACAATGAATCTGTGCA	0.557																																							uc001mja.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3313-3315)GAA>AAA		SH2 domain binding protein 1							82.0	89.0	86.0					11																	10800443		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10800443G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3313G>A	11.37:g.10800443G>A	ENSP00000355013:p.Glu1105Lys						p.E1105K	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	25	3462	+			1105			Ser-rich.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.3313G>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228941	0.79688	.	.	ENSG00000198730	ENST00000361367	T	0.48201	0.82	5.5	5.5	0.81552	.	0.306472	0.36815	N	0.002395	T	0.32763	0.0840	N	0.08118	0	0.58432	D	0.999997	B	0.19200	0.034	B	0.14023	0.01	T	0.09400	-1.0676	10	0.45353	T	0.12	-19.4784	19.3906	0.94581	0.0:0.0:1.0:0.0	.	1105	Q6PD62	CTR9_HUMAN	K	1105	ENSP00000355013:E1105K	ENSP00000355013:E1105K	E	+	1	0	CTR9	10757019	1.000000	0.71417	0.873000	0.34254	0.895000	0.52256	9.188000	0.94921	2.591000	0.87537	0.655000	0.94253	GAA		0.557	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		38	85	0	0	0	0.006999	0	38	85				
SLC17A6	57084	broad.mit.edu	37	11	22387212	22387212	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:22387212G>A	ENST00000263160.3	+	7	1305	c.868G>A	c.(868-870)Gca>Aca	p.A290T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	290					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.A290T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAGAGAGTGCAAATCTTTT	0.378																																							uc001mqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(868-870)GCA>ACA		solute carrier family 17 (sodium-dependent							162.0	157.0	159.0					11																	22387212		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22387212G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.868G>A	11.37:g.22387212G>A	ENSP00000263160:p.Ala290Thr						p.A290T	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			7	1281	+			290			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.868G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431613	0.62844	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59772	0.24	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.317113	0.37761	N	0.001960	T	0.40886	0.1135	N	0.05510	-0.035	0.80722	D	1	B	0.09022	0.002	B	0.21360	0.034	T	0.25398	-1.0133	10	0.16420	T	0.52	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	290	Q9P2U8	VGLU2_HUMAN	T	290;178	ENSP00000263160:A290T	ENSP00000263160:A290T	A	+	1	0	SLC17A6	22343788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.812000	0.96745	0.557000	0.71058	GCA		0.378	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		30	192	0	0	0	0.021022	0	30	192				
IMMP1L	196294	broad.mit.edu	37	11	31477921	31477921	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:31477921C>A	ENST00000278200.1	-	5	402	c.207G>T	c.(205-207)gtG>gtT	p.V69V	IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000532287.1_Silent_p.V69V|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000526776.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	69					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)	p.V69V(1)		breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TTTTTGCAATCACAATGTCAC	0.343																																							uc001msy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GTG>GTT		IMP1 inner mitochondrial membrane							56.0	54.0	54.0					11																	31477921		2202	4297	6499	SO:0001819	synonymous_variant	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31477921C>A		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.207G>T	11.37:g.31477921C>A						IMMP1L_uc001msz.1_Silent_p.V69V|IMMP1L_uc009yjo.2_Silent_p.V69V|IMMP1L_uc009yjp.2_RNA	p.V69V	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN			5	403	-	Lung SC(675;0.225)		69					D3DQZ7|Q96SH9	Silent	SNP	ENST00000278200.1	37	c.207G>T	CCDS7874.1																																																																																				0.343	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		21	82	1	0	6.32553e-13	0.004656	7.24604e-13	21	82				
KIAA1549L	25758	broad.mit.edu	37	11	33565250	33565250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:33565250C>G	ENST00000321505.4	+	1	1430	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S417C|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S417C			Q6ZVL6	K154L_HUMAN	KIAA1549-like	417						integral component of membrane (GO:0016021)		p.S417C(2)									TCAATAATATCTGGCTTGCAG	0.398											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001mup.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1249-1251)TCT>TGT		hypothetical protein LOC25758							49.0	49.0	49.0					11																	33565250		1857	4095	5952	SO:0001583	missense	25758					integral to membrane		g.chr11:33565250C>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1250C>G	11.37:g.33565250C>G	ENSP00000315295:p.Ser417Cys		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Missense_Mutation_p.S417C	p.S417C	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1374	+			417					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1250C>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411155	0.62399	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.65	4.73	0.59995	.	0.327153	0.26757	N	0.022660	T	0.61874	0.2382	M	0.62723	1.935	0.29885	N	0.825737	D;D	0.71674	0.993;0.998	P;P	0.61592	0.72;0.891	T	0.63980	-0.6514	9	0.62326	D	0.03	-6.4234	13.2272	0.59921	0.1597:0.8403:0.0:0.0	.	417;417	E9PAT2;Q6ZVL6-2	.;.	C	417;417;417;257	.	ENSP00000265654:S417C	S	+	2	0	C11orf41	33521826	0.998000	0.40836	0.975000	0.42487	0.993000	0.82548	3.146000	0.50631	1.374000	0.46228	0.555000	0.69702	TCT		0.398	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		34	69	0	0	0	0.019004	0	34	69				
RAG1	5896	broad.mit.edu	37	11	36596881	36596881	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:36596881G>C	ENST00000299440.5	+	2	2139	c.2027G>C	c.(2026-2028)aGt>aCt	p.S676T		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	676					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S676T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCCATCCTGAGTCCTCTCATT	0.512									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2026-2028)AGT>ACT		recombination activating gene 1							58.0	53.0	55.0					11																	36596881		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596881G>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2027G>C	11.37:g.36596881G>C	ENSP00000299440:p.Ser676Thr					RAG1_uc001mwt.2_RNA	p.S676T	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2151	+	all_lung(20;0.226)	all_hematologic(20;0.107)	676					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2027G>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827509	0.71143	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86097	-2.07;-2.07	5.98	5.98	0.97165	.	0.205294	0.50627	D	0.000105	D	0.93776	0.8010	M	0.86953	2.85	0.46901	D	0.999245	D	0.60575	0.988	D	0.74348	0.983	D	0.93798	0.7098	10	0.87932	D	0	.	20.5176	0.99214	0.0:0.0:1.0:0.0	.	676	P15918	RAG1_HUMAN	T	676	ENSP00000434610:S676T;ENSP00000299440:S676T	ENSP00000299440:S676T	S	+	2	0	RAG1	36553457	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.296000	0.72751	2.852000	0.98041	0.644000	0.83932	AGT		0.512	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		55	105	0	0	0	0.01441	0	55	105				
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	C	A	rs183275782	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:51411989C>A	ENST00000319760.6	-	1	459	c.407G>T	c.(406-408)cGa>cTa	p.R136L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCAAACCTGTCGATTCATGAT	0.478																																							uc001nhi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(406-408)CGA>CTA		olfactory receptor, family 4, subfamily A,							78.0	74.0	75.0					11																	51411989		2201	4294	6495	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411989C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.407G>T	11.37:g.51411989C>A	ENSP00000367664:p.Arg136Leu						p.R136L	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	407	-		all_lung(304;0.236)	136			Cytoplasmic (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.407G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	6.396	0.441195	0.12164	.	.	ENSG00000221840	ENST00000319760	T	0.01369	4.97	1.93	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	0.930208	0.08798	N	0.892243	T	0.02455	0.0075	M	0.69523	2.12	0.09310	N	1	P	0.39131	0.661	B	0.39935	0.314	T	0.21759	-1.0236	10	0.66056	D	0.02	.	7.7014	0.28625	0.0:0.3386:0.0:0.6614	.	136	Q8NH83	OR4A5_HUMAN	L	136	ENSP00000367664:R136L	ENSP00000367664:R136L	R	-	2	0	OR4A5	51268565	.	.	0.009000	0.14445	0.336000	0.28762	.	.	-0.877000	0.04012	0.162000	0.16502	CGA		0.478	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		39	300	1	0	1.06522e-23	0.013114	1.29771e-23	39	300				
OR5D18	219438	broad.mit.edu	37	11	55587679	55587679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:55587679G>T	ENST00000333976.4	+	1	594	c.574G>T	c.(574-576)Gat>Tat	p.D192Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D192Y(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTCTTGCTCTGATACTTACAT	0.403																																							uc010rin.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(574-576)GAT>TAT		olfactory receptor, family 5, subfamily D,							199.0	177.0	185.0					11																	55587679		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587679G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.574G>T	11.37:g.55587679G>T	ENSP00000335025:p.Asp192Tyr						p.D192Y	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	574	+		all_epithelial(135;0.208)	192			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.574G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.525	0.097376	0.08681	.	.	ENSG00000186119	ENST00000333976	T	0.00267	8.38	4.85	-0.485	0.12067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	D	0.000996	T	0.00384	0.0012	M	0.92833	3.35	0.09310	N	0.999999	P	0.44986	0.847	P	0.49597	0.616	T	0.39901	-0.9591	10	0.87932	D	0	-10.2857	6.113	0.20112	0.2717:0.0:0.6079:0.1204	.	192	Q8NGL1	OR5DI_HUMAN	Y	192	ENSP00000335025:D192Y	ENSP00000335025:D192Y	D	+	1	0	OR5D18	55344255	0.002000	0.14202	0.018000	0.16275	0.044000	0.14063	0.234000	0.17930	-0.254000	0.09500	-1.079000	0.02226	GAT		0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		59	616	1	0	1.55545e-33	0.01441	1.94907e-33	59	616				
RAB3IL1	5866	broad.mit.edu	37	11	61674928	61674928	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:61674928C>A	ENST00000394836.2	-	4	532	c.375G>T	c.(373-375)atG>atT	p.M125I	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.M172I	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	125					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M125I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTTCTCGAACCATCTTGTGAG	0.627																																							uc001nso.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(373-375)ATG>ATT		RAB3A interacting protein (rabin3)-like 1							105.0	82.0	90.0					11																	61674928		2202	4299	6501	SO:0001583	missense	5866						protein binding	g.chr11:61674928C>A	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.375G>T	11.37:g.61674928C>A	ENSP00000378313:p.Met125Ile					RAB3IL1_uc001nsp.2_Missense_Mutation_p.M172I	p.M125I	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			4	533	-			125			Potential.		Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.375G>T	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546601	0.86022	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.70749	-0.51;-0.51;-0.51	5.17	4.26	0.50523	.	0.078928	0.85682	D	0.000000	D	0.85448	0.5699	M	0.88450	2.955	0.28701	N	0.904052	D;D	0.69078	0.963;0.997	P;D	0.80764	0.886;0.994	T	0.82198	-0.0576	10	0.66056	D	0.02	-30.1927	13.6628	0.62376	0.0:0.9243:0.0:0.0757	.	172;125	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	I	125;172;172	ENSP00000378313:M125I;ENSP00000301773:M172I;ENSP00000435444:M172I	ENSP00000301773:M172I	M	-	3	0	RAB3IL1	61431504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.753000	0.85153	1.324000	0.45282	0.655000	0.94253	ATG		0.627	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		6	33	1	0	0.000274275	0.004482	0.00028738	6	33				
SPTBN2	6712	broad.mit.edu	37	11	66472402	66472402	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:66472402G>A	ENST00000533211.1	-	15	2676	c.2345C>T	c.(2344-2346)aCg>aTg	p.T782M	SPTBN2_ENST00000309996.2_Missense_Mutation_p.T782M|SPTBN2_ENST00000529997.1_Missense_Mutation_p.T782M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	782					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.T782M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAGAGCCTGCGTGGAGAACTC	0.662																																							uc001ojd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2344-2346)ACG>ATG		spectrin, beta, non-erythrocytic 2							58.0	54.0	56.0					11																	66472402		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472402G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2345C>T	11.37:g.66472402G>A	ENSP00000432568:p.Thr782Met						p.T782M	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	2417	-			782			Spectrin 5.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.2345C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525373	0.85600	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.51325	0.71;0.71;0.71	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71958	-0.4435	10	0.56958	D	0.05	.	16.5671	0.84601	0.0:0.0:1.0:0.0	.	782	O15020	SPTN2_HUMAN	M	782	ENSP00000432568:T782M;ENSP00000311489:T782M;ENSP00000433593:T782M	ENSP00000311489:T782M	T	-	2	0	SPTBN2	66228978	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.532000	0.81985	2.438000	0.82558	0.467000	0.42956	ACG		0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		14	40	0	0	0	0.006122	0	14	40				
CPT1A	1374	broad.mit.edu	37	11	68549256	68549256	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:68549256G>A	ENST00000265641.5	-	11	1489	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	CPT1A_ENST00000539743.1_Silent_p.H445H|CPT1A_ENST00000540367.1_Silent_p.H445H|CPT1A_ENST00000376618.2_Silent_p.H445H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	445					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.H445H(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AACATCGGCCGTGTAGTAGAG	0.488																																							uc001oog.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1333-1335)CAC>CAT		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						350.0	277.0	302.0					11																	68549256		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549256G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1335C>T	11.37:g.68549256G>A						CPT1A_uc001oof.3_Silent_p.H445H|CPT1A_uc009ysj.2_Intron	p.H445H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1505	-	Esophageal squamous(3;3.28e-14)		445			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1335C>T	CCDS8185.1																																																																																				0.488	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		15	776	0	0	0	0.003163	0	15	776				
FOLR4	390243	broad.mit.edu	37	11	94040706	94040706	+	Missense_Mutation	SNP	C	C	T	rs373625955		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:94040706C>T	ENST00000440961.2	+	4	624	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	201					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R195W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCTGAGCGACGGAACAGTGG	0.612																																							uc010rud.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)	1						c.(580-582)CGG>TGG		folate receptor 4 (delta) homolog		C	TRP/ARG	1,4011		0,1,2005	112.0	117.0	115.0		601	0.6	0.0	11		115	1,8337		0,1,4168	no	missense	FOLR4	NM_001199206.1	101	0,2,6173	TT,TC,CC		0.012,0.0249,0.0162	probably-damaging	201/251	94040706	2,12348	2006	4169	6175	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040706C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.580C>T	11.37:g.94040706C>T	ENSP00000416935:p.Arg194Trp						p.R194W	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			4	580	+			201						Missense_Mutation	SNP	ENST00000440961.2	37	c.580C>T		.	.	.	.	.	.	.	.	.	.	C	15.88	2.964015	0.53507	2.49E-4	1.2E-4	ENSG00000183560	ENST00000440961	T	0.78364	-1.17	4.07	0.595	0.17490	.	0.124545	0.53938	D	0.000053	D	0.86410	0.5926	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79022	-0.1973	10	0.87932	D	0	-21.0327	11.2455	0.48993	0.5892:0.4108:0.0:0.0	.	194	A6ND01-2	.	W	194	ENSP00000416935:R194W	ENSP00000416935:R194W	R	+	1	2	FOLR4	93680354	0.044000	0.20184	0.001000	0.08648	0.922000	0.55478	0.345000	0.19979	-0.012000	0.14223	0.491000	0.48974	CGG		0.612	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		74	654	0	0	0	0.01441	0	74	654				
AASDHPPT	60496	broad.mit.edu	37	11	105948530	105948530	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:105948530C>G	ENST00000278618.4	+	1	315	c.93C>G	c.(91-93)gcC>gcG	p.A31A	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	31					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.A31A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CGAGCCGAGCCGAATGGCTGC	0.607																																							uc001pjc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)GCC>GCG		aminoadipate-semialdehyde							74.0	76.0	75.0					11																	105948530		2201	4299	6500	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105948530C>G	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.93C>G	11.37:g.105948530C>G						KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_RNA	p.A31A	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	1	239	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	31					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.93C>G	CCDS31664.1																																																																																				0.607	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		10	63	0	0	0	0.008871	0	10	63				
SIK2	23235	broad.mit.edu	37	11	111583037	111583037	+	Missense_Mutation	SNP	C	C	G	rs139007229	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:111583037C>G	ENST00000304987.3	+	9	1377	c.1204C>G	c.(1204-1206)Cca>Gca	p.P402A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	402					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P402A(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTTTTCATTTCCAGCATCTGG	0.547																																							uc001plt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1204-1206)CCA>GCA		SNF1-like kinase 2							85.0	78.0	81.0					11																	111583037		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111583037C>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1204C>G	11.37:g.111583037C>G	ENSP00000305976:p.Pro402Ala						p.P402A	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			9	1322	+			402					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1204C>G	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838127	0.32513	.	.	ENSG00000170145	ENST00000304987	T	0.73258	-0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.60455	1.87	0.58432	D	0.999998	B	0.33103	0.397	B	0.28709	0.093	T	0.62348	-0.6873	10	0.14656	T	0.56	.	17.5995	0.88022	0.0:1.0:0.0:0.0	.	402	Q9H0K1	SIK2_HUMAN	A	402	ENSP00000305976:P402A	ENSP00000305976:P402A	P	+	1	0	SIK2	111088247	0.961000	0.32948	0.405000	0.26409	0.072000	0.16883	3.022000	0.49659	2.690000	0.91761	0.655000	0.94253	CCA		0.547	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		5	102	0	0	0	0.014758	0	5	102				
ARCN1	372	broad.mit.edu	37	11	118468445	118468445	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:118468445T>C	ENST00000264028.4	+	9	1360	c.1265T>C	c.(1264-1266)aTc>aCc	p.I422T	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.I463T|ARCN1_ENST00000392859.3_Missense_Mutation_p.I334T	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	422	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.I422T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGCCTGTTATCGGTGAGATC	0.512																																							uc001ptq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1264-1266)ATC>ACC		archain isoform 1							125.0	101.0	109.0					11																	118468445		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118468445T>C	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1265T>C	11.37:g.118468445T>C	ENSP00000264028:p.Ile422Thr					ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.I334T|ARCN1_uc009zag.2_Missense_Mutation_p.I463T	p.I422T	NM_001655	NP_001646	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1426	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	422			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1265T>C	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100603	0.76983	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.25250	1.81;1.81;1.81	5.76	5.76	0.90799	Clathrin adaptor, mu subunit, C-terminal (3);	0.093507	0.64402	D	0.000001	T	0.48995	0.1531	M	0.80616	2.505	0.80722	D	1	P;P;P	0.45283	0.77;0.775;0.855	B;P;P	0.54431	0.259;0.752;0.501	T	0.52888	-0.8515	10	0.72032	D	0.01	-0.1005	16.0821	0.81012	0.0:0.0:0.0:1.0	.	334;463;422	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	T	334;463;422	ENSP00000376599:I334T;ENSP00000352385:I463T;ENSP00000264028:I422T	ENSP00000264028:I422T	I	+	2	0	ARCN1	117973655	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	7.652000	0.83633	2.200000	0.70718	0.460000	0.39030	ATC		0.512	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			10	55	0	0	0	0.008291	0	10	55				
NCAPD3	23310	broad.mit.edu	37	11	134048744	134048744	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr11:134048744G>T	ENST00000534548.2	-	21	2711	c.2647C>A	c.(2647-2649)Ctg>Atg	p.L883M	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	883					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L883M(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACGAAGCCAGGACGGACTGA	0.478																																							uc001qhd.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(2647-2649)CTG>ATG		non-SMC condensin II complex, subunit D3							108.0	94.0	99.0					11																	134048744		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048744G>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2647C>A	11.37:g.134048744G>T	ENSP00000433681:p.Leu883Met					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.L883M	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	21	3253	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	883					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.2647C>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024056	0.54683	.	.	ENSG00000151503	ENST00000534548	T	0.33438	1.41	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.069340	0.64402	D	0.000013	T	0.47078	0.1426	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.43718	-0.9374	10	0.51188	T	0.08	-8.8488	10.0611	0.42275	0.0715:0.1534:0.7751:0.0	.	883	P42695	CNDD3_HUMAN	M	883	ENSP00000433681:L883M	ENSP00000434168:L883M	L	-	1	2	NCAPD3	133553954	1.000000	0.71417	0.520000	0.27837	0.307000	0.27823	2.954000	0.49113	1.410000	0.46936	0.563000	0.77884	CTG		0.478	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		4	105	1	0	3.59834e-05	0.001168	3.78318e-05	4	105				
PHB2	11331	broad.mit.edu	37	12	7077178	7077178	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:7077178G>A	ENST00000535923.1	-	5	765	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PHB2_ENST00000399433.2_Silent_p.L162L|PHB2_ENST00000440277.1_Silent_p.L162L|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Silent_p.L162L|U47924.29_ENST00000606539.1_RNA|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2									p.L162L(1)		ovary(2)|pancreas(1)	3						CGGATCAACAGGGATACCTga	0.582																																							uc001qsd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(484-486)CTG>TTG		prohibitin 2 isoform 1							48.0	51.0	50.0					12																	7077178		1969	4124	6093	SO:0001819	synonymous_variant	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077178G>A	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.484C>T	12.37:g.7077178G>A						PHB2_uc010sft.1_Silent_p.L162L|PHB2_uc010sfu.1_Silent_p.L162L|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	p.L162L	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN			5	694	-			162			Necessary for transcriptional repression.			Silent	SNP	ENST00000535923.1	37	c.484C>T	CCDS53741.1																																																																																				0.582	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		10	23	0	0	0	0.008291	0	10	23				
KLRC2	3822	broad.mit.edu	37	12	10583765	10583765	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:10583765G>C	ENST00000381902.2	-	6	653	c.647C>G	c.(646-648)tCa>tGa	p.S216*	KLRC2_ENST00000381901.1_Nonsense_Mutation_p.S216*|KLRC2_ENST00000536833.2_Nonsense_Mutation_p.S157*|NKG2-E_ENST00000539033.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	216	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S216*(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACACTGGGCTGATTTAAGTCG	0.323																																							uc001qyk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(646-648)TCA>TGA		killer cell lectin-like receptor subfamily C,							160.0	160.0	160.0					12																	10583765		2177	4277	6454	SO:0001587	stop_gained	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10583765G>C	X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.647C>G	12.37:g.10583765G>C	ENSP00000371327:p.Ser216*					KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Nonsense_Mutation_p.S216*	p.S216*	NM_002260	NP_002251	P26717	NKG2C_HUMAN			6	654	-			216			Extracellular (Potential).|C-type lectin.		O43802|Q52M74|Q9NR42	Nonsense_Mutation	SNP	ENST00000381902.2	37	c.647C>G	CCDS31745.1	.	.	.	.	.	.	.	.	.	.	g	8.102	0.776956	0.16120	.	.	ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833	.	.	.	1.33	1.33	0.21861	.	0.571702	0.13322	N	0.396610	.	.	.	.	.	.	0.45490	D	0.998453	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0383	0.19720	0.0:0.0:1.0:0.0	.	.	.	.	X	216;216;109;157	.	ENSP00000371326:S216X	S	-	2	0	KLRC2	10475032	0.018000	0.18449	0.003000	0.11579	0.003000	0.03518	2.146000	0.42216	1.039000	0.40074	0.484000	0.47621	TCA		0.323	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		4	112	0	0	0	0.00308	0	4	112				
KLRC1	3821	broad.mit.edu	37	12	10599199	10599199	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:10599199G>C	ENST00000359151.3	-	7	834	c.653C>G	c.(652-654)tCa>tGa	p.S218*	KLRC1_ENST00000347831.5_Nonsense_Mutation_p.S200*|KLRC1_ENST00000544822.1_Nonsense_Mutation_p.S218*|KLRC1_ENST00000408006.3_Nonsense_Mutation_p.S200*|KLRC1_ENST00000536188.1_Nonsense_Mutation_p.S218*	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	218	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S218*(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACACTGGGCTGATTTAAGTCG	0.323																																							uc001qyl.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(652-654)TCA>TGA		killer cell lectin-like receptor subfamily C,							177.0	171.0	173.0					12																	10599199		2203	4300	6503	SO:0001587	stop_gained	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10599199G>C	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.653C>G	12.37:g.10599199G>C	ENSP00000352064:p.Ser218*					KLRC1_uc009zhm.1_Nonsense_Mutation_p.S218*|KLRC1_uc001qym.2_Nonsense_Mutation_p.S200*|KLRC1_uc001qyn.2_Nonsense_Mutation_p.S218*|KLRC1_uc001qyo.2_Nonsense_Mutation_p.S200*	p.S218*	NM_002259	NP_002250	P26715	NKG2A_HUMAN			7	817	-			218			C-type lectin.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000359151.3	37	c.653C>G	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617367	0.46736	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	.	.	.	2.13	2.13	0.27403	.	0.571702	0.13322	N	0.396610	.	.	.	.	.	.	0.46336	D	0.99899	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.8627	0.29520	0.0:0.0:1.0:0.0	.	.	.	.	X	218;218;200;200;218	.	ENSP00000256965:S200X	S	-	2	0	KLRC1	10490466	0.008000	0.16893	0.006000	0.13384	0.007000	0.05969	1.064000	0.30579	1.516000	0.48900	0.405000	0.27470	TCA		0.323	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		62	238	0	0	0	0.01441	0	62	238				
SLCO1B7	338821	broad.mit.edu	37	12	21242939	21242939	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:21242939G>T	ENST00000421593.2	+	13	1822	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D655Y|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D716Y|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.D655Y|LST3_ENST00000540229.1_Missense_Mutation_p.D716Y	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	608						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D608Y(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATGGAAAGGATACCAAAGT	0.343																																							uc010sil.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2146-2148)GAT>TAT		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							50.0	53.0	52.0					12																	21242939		2022	4212	6234	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21242939G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1822G>T	12.37:g.21242939G>T	ENSP00000394168:p.Asp608Tyr					LST-3TM12_uc010sim.1_Missense_Mutation_p.D655Y|LST-3TM12_uc010sin.1_Missense_Mutation_p.D608Y	p.D716Y			Q9NPD5	SO1B3_HUMAN			16	2211	+	Esophageal squamous(101;0.149)		655			Cytoplasmic (Potential).		Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2146G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.920669	0.33908	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.39787	1.09;1.09;1.09;1.09;1.06	2.57	1.67	0.24075	.	1.348790	0.04820	N	0.436696	T	0.36771	0.0979	N	0.08118	0	0.19945	N	0.999946	D;D;D	0.62365	0.973;0.991;0.969	P;P;P	0.56514	0.8;0.8;0.737	T	0.33929	-0.9849	10	0.72032	D	0.01	.	5.1905	0.15207	0.1673:0.0:0.8327:0.0	.	608;655;716	G3V0H7;F5H094;Q5JAR4	.;.;.	Y	716;655;716;655;608	ENSP00000451758:D716Y;ENSP00000370952:D655Y;ENSP00000441269:D716Y;ENSP00000452013:D655Y;ENSP00000394168:D608Y	ENSP00000370952:D655Y	D	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134206	0.410000	0.25376	0.255000	0.24374	0.074000	0.17049	0.474000	0.22148	0.628000	0.30357	0.505000	0.49811	GAT		0.343	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		26	75	1	0	2.48779e-11	0.005443	2.80792e-11	26	75				
ST8SIA1	6489	broad.mit.edu	37	12	22354963	22354963	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:22354963G>A	ENST00000396037.4	-	5	1075	c.594C>T	c.(592-594)aaC>aaT	p.N198N	ST8SIA1_ENST00000539510.1_Silent_p.N55N	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	198					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.N198N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ACCACAGAAGGTTCTGAAACC	0.388																																							uc001rfo.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(592-594)AAC>AAT		alpha-2,8-sialyltransferase 1							36.0	38.0	37.0					12																	22354963		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354963G>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.594C>T	12.37:g.22354963G>A						ST8SIA1_uc009zix.2_Silent_p.N55N	p.N198N	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			5	1076	-			198			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.594C>T	CCDS8697.1																																																																																				0.388	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		16	74	0	0	0	0.006122	0	16	74				
ADAMTS20	80070	broad.mit.edu	37	12	43945637	43945637	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:43945637G>T	ENST00000389420.3	-	1	87	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q30K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	30					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q30K(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTTACCTTGCCTGGGGTGG	0.647																																							uc010skx.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(88-90)CAA>AAA		a disintegrin-like and metalloprotease with							87.0	74.0	78.0					12																	43945637		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43945637G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.88C>A	12.37:g.43945637G>T	ENSP00000374071:p.Gln30Lys						p.Q30K	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	1	88	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	30					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.88C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221867	0.58560	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61392	0.29;0.11	2.2	2.2	0.27929	.	.	.	.	.	T	0.43875	0.1267	L	0.34521	1.04	0.80722	D	1	B	0.30709	0.291	B	0.26202	0.067	T	0.49418	-0.8942	9	0.48119	T	0.1	.	11.9927	0.53184	0.0:0.0:1.0:0.0	.	30	P59510	ATS20_HUMAN	K	30	ENSP00000374071:Q30K;ENSP00000448341:Q30K	ENSP00000374068:Q30K	Q	-	1	0	ADAMTS20	42231904	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	6.450000	0.73477	1.567000	0.49668	0.467000	0.42956	CAA		0.647	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		24	97	1	0	4.72057e-08	0.021523	5.08497e-08	24	97				
CALCOCO1	57658	broad.mit.edu	37	12	54119004	54119004	+	Missense_Mutation	SNP	C	C	A	rs149998353	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:54119004C>A	ENST00000550804.1	-	2	83	c.23G>T	c.(22-24)cGg>cTg	p.R8L	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R8L|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R8L|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R8L|CALCOCO1_ENST00000547885.1_5'UTR			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	8	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.|p300 KIX-binding. {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R8L(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGATGGTGCCCGGCTTAGTGG	0.532																																							uc001sef.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(22-24)CGG>CTG		coiled-coil transcriptional coactivator isoform							144.0	115.0	125.0					12																	54119004		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54119004C>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.23G>T	12.37:g.54119004C>A	ENSP00000449960:p.Arg8Leu					CALCOCO1_uc010som.1_Missense_Mutation_p.R8L|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R8L|CALCOCO1_uc009znd.2_Missense_Mutation_p.R8L|CALCOCO1_uc001seg.2_5'UTR|CALCOCO1_uc010soo.1_Missense_Mutation_p.R8L	p.R8L	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			2	167	-			8			p300 KIX-binding (By similarity).|N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.23G>T	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863428	0.71949	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	1.34;2.76;2.76;2.76;0.83;0.83;0.83;0.79;0.82;0.82;0.83;0.82	4.71	3.81	0.43845	.	0.179711	0.27433	N	0.019384	T	0.45377	0.1339	N	0.08118	0	0.35234	D	0.777156	D;B;D;D;D	0.69078	0.982;0.001;0.997;0.992;0.994	P;B;P;D;P	0.72982	0.694;0.001;0.885;0.979;0.694	T	0.60094	-0.7330	10	0.59425	D	0.04	-14.3504	10.4449	0.44488	0.1942:0.8058:0.0:0.0	.	8;8;8;8;8	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	L	8	ENSP00000397189:R8L;ENSP00000262059:R8L;ENSP00000447647:R8L;ENSP00000449960:R8L;ENSP00000450083:R8L;ENSP00000448621:R8L;ENSP00000447117:R8L;ENSP00000449058:R8L;ENSP00000446820:R8L;ENSP00000448026:R8L;ENSP00000450012:R8L;ENSP00000449796:R8L	ENSP00000262059:R8L	R	-	2	0	CALCOCO1	52405271	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	1.499000	0.35671	1.352000	0.45808	0.655000	0.94253	CGG		0.532	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		20	45	1	0	4.35082e-09	0.010504	4.75338e-09	20	45				
SUOX	6821	broad.mit.edu	37	12	56397873	56397873	+	Missense_Mutation	SNP	G	G	A	rs201490900		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:56397873G>A	ENST00000394109.3	+	3	1424	c.700G>A	c.(700-702)Gta>Ata	p.V234I	SUOX_ENST00000266971.3_Missense_Mutation_p.V234I|SUOX_ENST00000356124.4_Missense_Mutation_p.V234I|SUOX_ENST00000548274.1_Missense_Mutation_p.V234I|SUOX_ENST00000394115.2_Missense_Mutation_p.V234I|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	234	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.V234I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCGCTTACACGTAGTAGGAGC	0.522																																							uc001six.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GTA>ATA		sulfite oxidase precursor							111.0	104.0	106.0					12																	56397873		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397873G>A	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.700G>A	12.37:g.56397873G>A	ENSP00000377668:p.Val234Ile					SUOX_uc001siy.2_Missense_Mutation_p.V234I|SUOX_uc001siz.2_Missense_Mutation_p.V234I|SUOX_uc001sja.2_Missense_Mutation_p.V234I	p.V234I	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	1026	+			234			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.700G>A	CCDS8901.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.006	-2.109202	0.00353	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	5.12	-1.4	0.08968	Oxidoreductase, molybdopterin-binding domain (3);	0.561537	0.18074	N	0.152512	D	0.83285	0.5221	N	0.04705	-0.18	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.67883	-0.5555	10	0.08599	T	0.76	-30.8589	12.0192	0.53333	0.5057:0.0:0.4943:0.0	.	234	P51687	SUOX_HUMAN	I	234	ENSP00000348440:V234I;ENSP00000266971:V234I;ENSP00000377674:V234I;ENSP00000450245:V234I;ENSP00000377668:V234I	ENSP00000266971:V234I	V	+	1	0	SUOX	54684140	0.032000	0.19561	0.001000	0.08648	0.368000	0.29767	0.247000	0.18179	-0.644000	0.05465	-1.094000	0.02160	GTA		0.522	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		15	60	0	0	0	0.006122	0	15	60				
KCNC2	3747	broad.mit.edu	37	12	75442065	75442065	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:75442065G>T	ENST00000549446.1	-	4	2328	c.1648C>A	c.(1648-1650)Ccg>Acg	p.P550T	KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000341669.3_Missense_Mutation_p.P550T|KCNC2_ENST00000298972.1_Missense_Mutation_p.P550T|KCNC2_ENST00000548513.1_Missense_Mutation_p.P550T|KCNC2_ENST00000550433.1_Missense_Mutation_p.P550T|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.P550T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	550					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P550T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GATAGTGGCGGCTCACTTCCT	0.478																																							uc001sxg.1		NA																	2	Substitution - Missense(2)	p.P550L(1)	lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1648-1650)CCG>ACG		Shaw-related voltage-gated potassium channel							161.0	133.0	143.0					12																	75442065		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75442065G>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1648C>A	12.37:g.75442065G>T	ENSP00000449253:p.Pro550Thr					KCNC2_uc009zry.2_Missense_Mutation_p.P550T|KCNC2_uc001sxe.2_Missense_Mutation_p.P550T|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	p.P550T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			4	2192	-			550			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1648C>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116872	0.37339	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000393288	D;D;D;D;D;D	0.97041	-4.21;-4.18;-4.21;-4.21;-4.18;-4.22	5.55	4.66	0.58398	.	0.698951	0.13557	N	0.379054	D	0.92071	0.7487	N	0.08118	0	0.27366	N	0.955821	B;B;B	0.13594	0.004;0.008;0.0	B;B;B	0.19148	0.004;0.024;0.0	D	0.83771	0.0220	10	0.30854	T	0.27	.	14.3876	0.66956	0.0714:0.0:0.9286:0.0	.	550;550;550	Q96PR1-2;Q96PR1;Q96PR1-3	.;KCNC2_HUMAN;.	T	550	ENSP00000448301:P550T;ENSP00000449941:P550T;ENSP00000449253:P550T;ENSP00000340121:P550T;ENSP00000298972:P550T;ENSP00000376966:P550T	ENSP00000298972:P550T	P	-	1	0	KCNC2	73728332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.484000	0.73621	1.339000	0.45563	0.585000	0.79938	CCG		0.478	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		31	160	1	0	1.08312e-15	0.009535	1.26433e-15	31	160				
NAV3	89795	broad.mit.edu	37	12	78452814	78452814	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:78452814G>T	ENST00000397909.2	+	12	2728	c.2555G>T	c.(2554-2556)aGt>aTt	p.S852I	NAV3_ENST00000228327.6_Missense_Mutation_p.S852I|NAV3_ENST00000536525.2_Missense_Mutation_p.S852I|NAV3_ENST00000266692.7_Missense_Mutation_p.S852I|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	852						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S852I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATACTAGAAGTCTGAACCGA	0.398										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2554-2556)AGT>ATT		neuron navigator 3							92.0	89.0	90.0					12																	78452814		1897	4123	6020	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78452814G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2555G>T	12.37:g.78452814G>T	ENSP00000381007:p.Ser852Ile	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S852I|NAV3_uc010sub.1_Missense_Mutation_p.S352I	p.S852I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			12	2728	+			852					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2555G>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346877	0.82022	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.29142	1.69;1.69;1.68;1.58	5.82	5.82	0.92795	.	0.000000	0.47093	U	0.000241	T	0.43700	0.1259	L	0.34521	1.04	0.80722	D	1	D;D;D	0.62365	0.959;0.991;0.987	P;P;P	0.57776	0.625;0.69;0.827	T	0.26916	-1.0089	10	0.72032	D	0.01	-17.7174	20.1142	0.97922	0.0:0.0:1.0:0.0	.	852;852;852	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	852	ENSP00000446132:S852I;ENSP00000381007:S852I;ENSP00000228327:S852I;ENSP00000266692:S852I	ENSP00000228327:S852I	S	+	2	0	NAV3	76976945	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.648000	0.67930	2.765000	0.95021	0.650000	0.86243	AGT		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	201	1	0	4.59853e-10	0.005443	5.15237e-10	25	201				
MGAT4C	25834	broad.mit.edu	37	12	86373302	86373302	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:86373302C>G	ENST00000604798.1	-	8	2406	c.1202G>C	c.(1201-1203)cGg>cCg	p.R401P	MGAT4C_ENST00000549405.2_Missense_Mutation_p.R401P|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R401P|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R430P|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R401P|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R401P			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	401					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R401P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCATTTTGCCGATCTTCTGT	0.343																																							uc001tai.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1201-1203)CGG>CCG		alpha-1,3-mannosyl-glycoprotein							71.0	70.0	70.0					12																	86373302		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373302C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1202G>C	12.37:g.86373302C>G	ENSP00000474896:p.Arg401Pro					MGAT4C_uc001tal.3_Missense_Mutation_p.R401P|MGAT4C_uc001taj.3_Missense_Mutation_p.R401P|MGAT4C_uc001tak.3_Missense_Mutation_p.R401P|MGAT4C_uc010sum.1_Missense_Mutation_p.R425P|MGAT4C_uc001tah.3_Missense_Mutation_p.R401P	p.R401P	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2452	-			401			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1202G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973784	0.53720	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.32272	1.47;1.46;1.47;1.47;1.47	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.942	T	0.59847	-0.7377	10	0.59425	D	0.04	-2.8341	19.9607	0.97248	0.0:1.0:0.0:0.0	.	430;401	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	P	401;430;401;401;401;401	ENSP00000331664:R401P;ENSP00000376900:R430P;ENSP00000449022:R401P;ENSP00000446647:R401P;ENSP00000447253:R401P	ENSP00000331664:R401P	R	-	2	0	MGAT4C	84897433	1.000000	0.71417	0.917000	0.36280	0.243000	0.25628	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	CGG		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		18	64	0	0	0	0.014323	0	18	64				
POLR3B	55703	broad.mit.edu	37	12	106890582	106890582	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:106890582G>T	ENST00000228347.4	+	25	3092	c.2870G>T	c.(2869-2871)aGa>aTa	p.R957I	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.R899I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	957					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)|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)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R957I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTGGACGGCAGATTCCACTAC	0.527																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2869-2871)AGA>ATA		DNA-directed RNA polymerase III B isoform 1							173.0	131.0	145.0					12																	106890582		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106890582G>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2870G>T	12.37:g.106890582G>T	ENSP00000228347:p.Arg957Ile					POLR3B_uc001tlq.2_Missense_Mutation_p.R899I	p.R957I	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			25	3092	+			957					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2870G>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405605	0.62288	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71579	-0.58;-0.58	5.66	2.46	0.29980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.175866	0.64402	D	0.000015	T	0.59932	0.2230	N	0.25825	0.765	0.80722	D	1	B	0.20988	0.05	B	0.32762	0.152	T	0.59037	-0.7529	10	0.66056	D	0.02	-13.0648	10.9633	0.47397	0.2638:0.0:0.7362:0.0	.	957	Q9NW08	RPC2_HUMAN	I	957;899	ENSP00000228347:R957I;ENSP00000445721:R899I	ENSP00000228347:R957I	R	+	2	0	POLR3B	105414712	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	3.511000	0.53400	0.732000	0.32470	0.655000	0.94253	AGA		0.527	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		47	284	1	0	6.31075e-24	0.01441	7.71873e-24	47	284				
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:109051145C>T	ENST00000261401.3	-	6	857	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.D229N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D235N|CORO1C_ENST00000421578.2_Missense_Mutation_p.D124N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D282N	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	229					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.D229N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACATTGCCATCGGCCAGGAAG	0.547																																							uc001tnj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(685-687)GAT>AAT		coronin, actin binding protein, 1C isoform 1							93.0	86.0	89.0					12																	109051145		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109051145C>T	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.685G>A	12.37:g.109051145C>T	ENSP00000261401:p.Asp229Asn					CORO1C_uc009zva.2_Missense_Mutation_p.D282N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N	p.D229N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			6	781	-			229					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.685G>A	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687355	0.48097	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871	T;T;T;T;T;T	0.64803	4.76;4.76;4.76;4.76;4.76;-0.12	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045307	0.85682	D	0.000000	T	0.57213	0.2038	L	0.48986	1.54	0.80722	D	1	B;B;B	0.13145	0.007;0.002;0.003	B;B;B	0.10450	0.005;0.005;0.003	T	0.54214	-0.8327	10	0.13470	T	0.59	-0.7691	18.8822	0.92360	0.0:1.0:0.0:0.0	.	192;282;229	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	N	229;229;124;235;282;124	ENSP00000261401:D229N;ENSP00000438341:D229N;ENSP00000415554:D124N;ENSP00000447534:D235N;ENSP00000394496:D282N;ENSP00000449658:D124N	ENSP00000261401:D229N	D	-	1	0	CORO1C	107575274	1.000000	0.71417	0.284000	0.24805	0.988000	0.76386	4.940000	0.63533	2.444000	0.82710	0.637000	0.83480	GAT		0.547	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		5	31	0	0	0	0.014758	0	5	31				
ATXN2	6311	broad.mit.edu	37	12	111893881	111893881	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:111893881G>T	ENST00000377617.3	-	23	3857	c.3696C>A	c.(3694-3696)caC>caA	p.H1232Q	ATXN2_ENST00000389153.4_Missense_Mutation_p.H969Q|ATXN2_ENST00000542287.2_Missense_Mutation_p.H967Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1072Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.H925Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1232					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H1232Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCGGCTGAACGTGAGAAGGAT	0.532																																							uc001tsj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3694-3696)CAC>CAA		ataxin 2							394.0	347.0	363.0					12																	111893881		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893881G>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3696C>A	12.37:g.111893881G>T	ENSP00000366843:p.His1232Gln					ATXN2_uc001tsh.2_Missense_Mutation_p.H967Q|ATXN2_uc001tsi.2_Missense_Mutation_p.H925Q|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.H420Q|ATXN2_uc001tsl.1_Missense_Mutation_p.H233Q	p.H1232Q	NM_002973	NP_002964	Q99700	ATX2_HUMAN			23	3858	-			1232					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3696C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.166007	0.21538	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.59772	0.24	5.59	-5.27	0.02763	.	0.051024	0.85682	D	0.000000	T	0.27027	0.0662	N	0.04880	-0.145	0.80722	D	1	B;P;B;P;B	0.35714	0.239;0.517;0.149;0.516;0.277	B;B;B;B;B	0.33121	0.12;0.158;0.034;0.122;0.061	T	0.14531	-1.0469	10	0.10636	T	0.68	-11.7521	15.1616	0.72791	0.9077:0.0:0.0923:0.0	.	233;1232;925;967;969	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	Q	287;969;1232;233;967;925;157	ENSP00000366843:H1232Q	ENSP00000366843:H1232Q	H	-	3	2	ATXN2	110378264	0.683000	0.27633	0.905000	0.35620	0.654000	0.38779	-0.083000	0.11286	-1.062000	0.03181	-1.008000	0.02478	CAC		0.532	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		87	315	1	0	1.03567e-68	0.01441	1.32479e-68	87	315				
HECTD4	283450	broad.mit.edu	37	12	112600871	112600871	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:112600871C>T	ENST00000430131.2	-	74	12974	c.11829G>A	c.(11827-11829)aaG>aaA	p.K3943K	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Silent_p.K4219K|HECTD4_ENST00000377560.5_Silent_p.K4193K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3943	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K3943K(1)|p.K4193K(1)									GGGGGGCGATCTTCATGGGGT	0.617																																							uc009zwc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(11827-11829)AAG>AAA		chromosome 12 open reading frame 51							82.0	90.0	88.0					12																	112600871		2018	4165	6183	SO:0001819	synonymous_variant	283450							g.chr12:112600871C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11829G>A	12.37:g.112600871C>T							p.K3943K	NM_001109662	NP_001103132					68	11847	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11829G>A																																																																																					0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		23	141	0	0	0	0.00632	0	23	141				
HECTD4	283450	broad.mit.edu	37	12	112600874	112600874	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:112600874C>T	ENST00000430131.2	-	74	12971	c.11826G>A	c.(11824-11826)atG>atA	p.M3942I	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.M4218I|HECTD4_ENST00000377560.5_Missense_Mutation_p.M4192I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3942	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.M4192I(1)|p.M3942I(1)									GGGCGATCTTCATGGGGTACG	0.612																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(11824-11826)ATG>ATA		chromosome 12 open reading frame 51							84.0	92.0	90.0					12																	112600874		2017	4162	6179	SO:0001583	missense	283450							g.chr12:112600874C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11826G>A	12.37:g.112600874C>T	ENSP00000404379:p.Met3942Ile						p.M3942I	NM_001109662	NP_001103132					68	11844	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11826G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.147798	0.78001	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.52526	0.66;0.66;0.66	5.8	4.91	0.64330	HECT (4);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	N	0.21448	0.665	0.58432	D	0.999996	B	0.32396	0.369	B	0.36335	0.222	T	0.39502	-0.9611	10	0.72032	D	0.01	.	14.9287	0.70898	0.0:0.9317:0.0:0.0683	.	3942	Q9Y4D8	K0614_HUMAN	I	4192;3942;4218;407	ENSP00000366783:M4192I;ENSP00000404379:M3942I;ENSP00000449784:M4218I	ENSP00000366783:M4192I	M	-	3	0	C12orf51	111085257	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.372000	0.79612	1.479000	0.48272	0.561000	0.74099	ATG		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	143	0	0	0	0.007291	0	22	143				
PXN	5829	broad.mit.edu	37	12	120650309	120650309	+	Silent	SNP	G	G	A	rs548963687		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:120650309G>A	ENST00000228307.7	-	12	1725	c.1584C>T	c.(1582-1584)caC>caT	p.H528H	PXN_ENST00000458477.2_Silent_p.H361H|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000267257.7_Silent_p.H542H|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000397506.3_Silent_p.H340H|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000536957.1_Silent_p.H526H|PXN_ENST00000424649.2_Silent_p.H494H	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	528	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.H528H(1)|p.H494H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCGCCGCTCGTGGTAGTGCA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		13752	0.0		0.0	False		,,,				2504	0.001						uc001txt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(1582-1584)CAC>CAT		paxillin isoform 1							45.0	54.0	51.0					12																	120650309		2079	4190	6269	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120650309G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1584C>T	12.37:g.120650309G>A						uc001txs.1_RNA|PXN_uc001txu.2_Silent_p.H340H|PXN_uc001txv.2_Silent_p.H409H|PXN_uc001txx.2_Silent_p.H361H|PXN_uc001txy.2_Silent_p.H494H|PXN_uc001txz.2_RNA	p.H528H	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			12	1715	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		528			LIM zinc-binding 3.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1584C>T	CCDS44997.1																																																																																				0.642	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		5	28	0	0	0	0.001168	0	5	28				
POLE	5426	broad.mit.edu	37	12	133257827	133257827	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:133257827C>A	ENST00000320574.5	-	2	144	c.101G>T	c.(100-102)cGc>cTc	p.R34L	POLE_ENST00000535270.1_Missense_Mutation_p.R34L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	34					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.R34L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCGTTCCAGGCGCTTGAGTGC	0.512								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(100-102)CGC>CTC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							114.0	111.0	112.0					12																	133257827		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133257827C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.101G>T	12.37:g.133257827C>A	ENSP00000322570:p.Arg34Leu					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R34L	p.R34L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	2	145	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	34					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.101G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164442	0.94727	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.04360	3.97;3.86;3.64	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	L	0.43646	1.37	0.80722	D	1	P;B	0.48834	0.916;0.249	P;B	0.54401	0.751;0.154	T	0.00885	-1.1527	10	0.87932	D	0	.	17.8882	0.88863	0.0:1.0:0.0:0.0	.	34;34	F5H1D6;Q07864	.;DPOE1_HUMAN	L	34;45;34	ENSP00000322570:R34L;ENSP00000406383:R45L;ENSP00000445753:R34L	ENSP00000322570:R34L	R	-	2	0	POLE	131767900	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.322000	0.79097	2.395000	0.81488	0.491000	0.48974	CGC		0.512	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		24	94	1	0	2.70662e-09	0.009535	2.96762e-09	24	94				
ANKLE2	23141	broad.mit.edu	37	12	133318046	133318046	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:133318046T>C	ENST00000357997.5	-	7	1468	c.1379A>G	c.(1378-1380)aAa>aGa	p.K460R	ANKLE2_ENST00000539605.1_Missense_Mutation_p.K398R|ANKLE2_ENST00000337516.5_Missense_Mutation_p.K460R	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	460					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.K460R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCCACAGATTTATTTTTGCT	0.413																																							uc001ukx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1378-1380)AAA>AGA		ankyrin repeat and LEM domain containing 2							120.0	117.0	118.0					12																	133318046		1841	4092	5933	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133318046T>C	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1379A>G	12.37:g.133318046T>C	ENSP00000350686:p.Lys460Arg					ANKLE2_uc001uky.3_Missense_Mutation_p.K398R	p.K460R	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	7	1446	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	460					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1379A>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	t	14.79	2.641561	0.47153	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036;ENST00000545623	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.99	5.99	0.97316	Ankyrin repeat-containing domain (2);	0.041576	0.85682	D	0.000000	T	0.56485	0.1988	L	0.37561	1.115	0.49915	D	0.999836	D;D	0.65815	0.984;0.995	P;P	0.62560	0.895;0.904	T	0.54938	-0.8218	10	0.42905	T	0.14	-13.5056	15.0596	0.71942	0.0:0.0:0.0:1.0	.	460;460	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	R	398;460;460;23;230	ENSP00000446268:K398R;ENSP00000350686:K460R;ENSP00000337651:K460R;ENSP00000437585:K23R;ENSP00000438515:K230R	ENSP00000337651:K460R	K	-	2	0	ANKLE2	131828119	1.000000	0.71417	0.275000	0.24674	0.126000	0.20510	5.516000	0.67055	2.294000	0.77228	0.528000	0.53228	AAA		0.413	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			28	66	0	0	0	0.009535	0	28	66				
RXFP2	122042	broad.mit.edu	37	13	32349457	32349457	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:32349457A>G	ENST00000298386.2	+	7	643	c.572A>G	c.(571-573)tAt>tGt	p.Y191C	RXFP2_ENST00000380314.1_Missense_Mutation_p.Y191C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	191					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.Y191C(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTTGTAGATATCTCAACCAC	0.368																																							uc001utt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)TAT>TGT		relaxin/insulin-like family peptide receptor 2							207.0	173.0	184.0					13																	32349457		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32349457A>G	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.572A>G	13.37:g.32349457A>G	ENSP00000298386:p.Tyr191Cys					RXFP2_uc010aba.2_Missense_Mutation_p.Y174C	p.Y191C	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	7	643	+		Lung SC(185;0.0262)	191			LRR 3.|Extracellular (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.572A>G	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.720576	0.68959	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.58652	4.24;0.32	5.6	5.6	0.85130	.	0.159418	0.64402	D	0.000018	T	0.77870	0.4195	M	0.86573	2.825	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.79633	-0.1722	10	0.40728	T	0.16	.	13.7379	0.62829	1.0:0.0:0.0:0.0	.	191;191	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	C	191	ENSP00000369670:Y191C;ENSP00000298386:Y191C	ENSP00000298386:Y191C	Y	+	2	0	RXFP2	31247457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.490000	0.53245	2.140000	0.66376	0.533000	0.62120	TAT		0.368	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		43	241	0	0	0	0.01441	0	43	241				
CUL4A	8451	broad.mit.edu	37	13	113883759	113883759	+	Splice_Site	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:113883759G>C	ENST00000375440.4	+	5	522		c.e5-1		CUL4A_ENST00000451881.1_Splice_Site|CUL4A_ENST00000463426.1_Splice_Site|CUL4A_ENST00000375441.3_Splice_Site|CUL4A_ENST00000326335.4_Splice_Site	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A						cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTGCTGGTCAGATCATGATCA	0.473																																							uc010tjy.1		NA																	1	Unknown(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.e6-1		cullin 4A isoform 1							117.0	93.0	101.0					13																	113883759		2203	4300	6503	SO:0001630	splice_region_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113883759G>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.439-1G>C	13.37:g.113883759G>C						CUL4A_uc010tjx.1_Splice_Site_p.I47_splice|CUL4A_uc010agu.2_Splice_Site|CUL4A_uc001vth.2_Splice_Site|CUL4A_uc001vtj.2_Splice_Site	p.I147_splice	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		6	450	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)						A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Splice_Site	SNP	ENST00000375440.4	37	c.439_splice	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505781	0.64410	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.942	0.89028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUL4A	112931760	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.589000	0.98235	2.469000	0.83416	0.561000	0.74099	.		0.473	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	Intron	13	82	0	0	0	0.020292	0	13	82				
CUL4A	8451	broad.mit.edu	37	13	113897452	113897452	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:113897452C>T	ENST00000375440.4	+	11	1290	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	CUL4A_ENST00000451881.1_Silent_p.P302P|CUL4A_ENST00000375441.3_Silent_p.P302P|CUL4A_ENST00000326335.4_Silent_p.P302P	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	402					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.P302P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACAAGAGACCCAACAAGCCTG	0.418																																							uc010tjy.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1204-1206)CCC>CCT		cullin 4A isoform 1							117.0	104.0	109.0					13																	113897452		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113897452C>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1206C>T	13.37:g.113897452C>T						CUL4A_uc010tjx.1_Silent_p.P302P|CUL4A_uc010agu.2_Silent_p.P263P|CUL4A_uc010tjz.1_Silent_p.P81P	p.P402P	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		12	1217	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	402					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1206C>T	CCDS41908.1																																																																																				0.418	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		17	185	0	0	0	0.008871	0	17	185				
POTEG	404785	broad.mit.edu	37	14	19563533	19563533	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:19563533T>G	ENST00000409832.3	+	5	1099	c.1047T>G	c.(1045-1047)caT>caG	p.H349Q	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	349				H -> R (in Ref. 1; AAS58868/AAS58871). {ECO:0000305}.				p.H349Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCTAGTCATCATAATGTGT	0.348																																							uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)CAT>CAG		POTE ankyrin domain family, member G							61.0	98.0	86.0					14																	19563533		1145	2491	3636	SO:0001583	missense	404785							g.chr14:19563533T>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1047T>G	14.37:g.19563533T>G	ENSP00000386971:p.His349Gln					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	p.H349Q	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1099	+			349	H -> R (in Ref. 1; AAS58868/AAS58871).				A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1047T>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	t	2.821	-0.244816	0.05906	.	.	ENSG00000222036	ENST00000409832	T	0.63580	-0.05	1.09	-0.109	0.13584	Ankyrin repeat-containing domain (4);	3.636160	0.02887	U	0.133696	T	0.54919	0.1888	L	0.28344	0.845	0.09310	N	1	P	0.45428	0.858	P	0.49361	0.608	T	0.41034	-0.9531	10	0.36615	T	0.2	.	2.9735	0.05930	0.0:0.2945:0.0:0.7055	.	349	Q6S5H5	POTEG_HUMAN	Q	349	ENSP00000386971:H349Q	ENSP00000386971:H349Q	H	+	3	2	POTEG	18633533	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.462000	0.06704	-0.040000	0.13580	0.155000	0.16302	CAT		0.348	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		26	798	0	0	0	0.013726	0	26	798				
MMP14	4323	broad.mit.edu	37	14	23311752	23311752	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:23311752G>C	ENST00000311852.6	+	4	775	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	172					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E172Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGAGGGCCATGAGAAGCAGGC	0.622																																							uc001whc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GAG>CAG		matrix metalloproteinase 14 preproprotein							82.0	61.0	68.0					14																	23311752		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311752G>C		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.514G>C	14.37:g.23311752G>C	ENSP00000308208:p.Glu172Gln						p.E172Q	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	748	+	all_cancers(95;9.47e-05)		172			Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.514G>C	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334583	0.41297	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	T;T	0.21932	1.98;1.98	5.53	5.53	0.82687	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.167053	0.52532	D	0.000067	T	0.14787	0.0357	L	0.28054	0.825	0.43494	D	0.99573	B	0.17038	0.02	B	0.18561	0.022	T	0.10064	-1.0646	10	0.21014	T	0.42	.	11.6855	0.51483	0.0823:0.0:0.9176:0.0	.	172	P50281	MMP14_HUMAN	Q	172;178	ENSP00000308208:E172Q;ENSP00000446989:E178Q	ENSP00000308208:E172Q	E	+	1	0	MMP14	22381592	0.993000	0.37304	0.998000	0.56505	0.995000	0.86356	2.088000	0.41663	2.617000	0.88574	0.561000	0.74099	GAG		0.622	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		10	33	0	0	0	0.008291	0	10	33				
LRFN5	145581	broad.mit.edu	37	14	42360651	42360651	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:42360651C>G	ENST00000298119.4	+	4	2773	c.1584C>G	c.(1582-1584)acC>acG	p.T528T	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	528						integral component of membrane (GO:0016021)		p.T528T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGGAGGCACCATGATTATTA	0.428										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1582-1584)ACC>ACG		leucine rich repeat and fibronectin type III							216.0	206.0	209.0					14																	42360651		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360651C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1584C>G	14.37:g.42360651C>G		HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.T528T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2782	+			528			Extracellular (Potential).		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1584C>G	CCDS9678.1																																																																																				0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		68	562	0	0	0	0.01441	0	68	562				
MAP4K5	11183	broad.mit.edu	37	14	50935437	50935437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:50935437C>A	ENST00000013125.4	-	10	924	c.606G>T	c.(604-606)tgG>tgT	p.W202C	MAP4K5_ENST00000557578.1_5'UTR|Y_RNA_ENST00000364703.1_RNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.W202C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCCTACTGCCCAGATATCAC	0.393																																							uc001wya.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(604-606)TGG>TGT		mitogen-activated protein kinase kinase kinase							82.0	80.0	81.0					14																	50935437		1986	4203	6189	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50935437C>A	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.606G>T	14.37:g.50935437C>A	ENSP00000013125:p.Trp202Cys					MAP4K5_uc001wyb.2_Missense_Mutation_p.W202C|MAP4K5_uc010anv.1_Missense_Mutation_p.W202C	p.W202C	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			10	926	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		202			Protein kinase.		Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.606G>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.654179	0.88056	.	.	ENSG00000012983	ENST00000013125	T	0.56103	0.48	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90750	0.4656	10	0.87932	D	0	.	18.3426	0.90311	0.0:1.0:0.0:0.0	.	202;202	B2R928;Q9Y4K4	.;M4K5_HUMAN	C	202	ENSP00000013125:W202C	ENSP00000013125:W202C	W	-	3	0	MAP4K5	50005187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.636000	0.89361	0.650000	0.86243	TGG		0.393	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		15	63	1	0	8.60227e-14	0.004007	9.891e-14	15	63				
SLC38A6	145389	broad.mit.edu	37	14	61446167	61446167	+	5'Flank	SNP	G	G	C	rs146315661		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:61446167G>C	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.S150C|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.S150C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTCTCAAAGGAATCATGAGT	0.373																																							uc001xff.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)	3						c.(448-450)TCC>TGC		tRNA methyltransferase 5							115.0	117.0	117.0					14																	61446167		2203	4300	6503	SO:0001631	upstream_gene_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61446167G>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446167G>C	Exception_encountered					SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	p.S150C	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	2	540	-			150					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.449C>G	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540677	0.65085	.	.	ENSG00000126814	ENST00000261249	T	0.25749	1.78	4.54	3.61	0.41365	.	0.248050	0.42821	N	0.000647	T	0.48750	0.1517	M	0.75777	2.31	0.49582	D	0.9998	D	0.71674	0.998	D	0.65987	0.94	T	0.55515	-0.8129	10	0.66056	D	0.02	-18.9559	14.5597	0.68126	0.0:0.1474:0.8526:0.0	.	150	Q32P41	TRM5_HUMAN	C	150	ENSP00000261249:S150C	ENSP00000261249:S150C	S	-	2	0	TRMT5	60515920	1.000000	0.71417	0.929000	0.37066	0.912000	0.54170	4.942000	0.63547	1.175000	0.42826	0.655000	0.94253	TCC		0.373	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			27	104	0	0	0	0.008361	0	27	104				
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:63888788G>C	ENST00000337537.3	-	4	981	c.379C>G	c.(379-381)Ctc>Gtc	p.L127V	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L127V|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L51V	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	127					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.L127V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTAGGAGGGAGAGTTCTGAAT	0.423																																							uc001xgd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)CTC>GTC		epsilon isoform of regulatory subunit B56,							140.0	121.0	127.0					14																	63888788		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63888788G>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.379C>G	14.37:g.63888788G>C	ENSP00000337641:p.Leu127Val					PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51V|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51V|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127V|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127V|PPP2R5E_uc001xgf.1_RNA	p.L127V	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	4	969	-			127					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.379C>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352636	0.82132	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	M	0.93241	3.395	0.80722	D	1	D;D	0.64830	0.973;0.994	P;D	0.64144	0.768;0.922	D	0.89532	0.3786	9	0.87932	D	0	-5.5609	17.9569	0.89072	0.0:0.0:1.0:0.0	.	127;127	B7ZKK9;Q16537	.;2A5E_HUMAN	V	127;127;51	.	ENSP00000337641:L127V	L	-	1	0	PPP2R5E	62958541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.972000	0.88022	2.530000	0.85305	0.591000	0.81541	CTC		0.423	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		21	181	0	0	0	0.014323	0	21	181				
AKAP5	9495	broad.mit.edu	37	14	64935712	64935712	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:64935712C>T	ENST00000394718.4	+	2	978	c.600C>T	c.(598-600)agC>agT	p.S200S	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Silent_p.S200S	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	200					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.S200S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CAAATGTGAGCAATAGCACAA	0.418																																							uc001xhd.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)AGC>AGT		A-kinase anchor protein 5							101.0	104.0	103.0					14																	64935712		2203	4300	6503	SO:0001819	synonymous_variant	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64935712C>T	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.600C>T	14.37:g.64935712C>T						ZBTB25_uc001xhc.2_Intron	p.S200S	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	978	+			200					A2RRB8	Silent	SNP	ENST00000394718.4	37	c.600C>T	CCDS9764.1																																																																																				0.418	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			17	76	0	0	0	0.010504	0	17	76				
HSPA2	3306	broad.mit.edu	37	14	65008589	65008589	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:65008589G>T	ENST00000394709.1	+	2	1098	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	HSPA2_ENST00000247207.6_Missense_Mutation_p.G341V|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	341					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.G341V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GTGCTGGTGGGCGGCTCCACT	0.617																																					Pancreas(136;1211 1835 24894 31984 38227)	Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1021-1023)GGC>GTC		heat shock 70kDa protein 2							35.0	39.0	37.0					14																	65008589		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008589G>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1022G>T	14.37:g.65008589G>T	ENSP00000378199:p.Gly341Val					HSPA2_uc001xhk.3_Missense_Mutation_p.G341V	p.G341V	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1098	+			341					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1022G>T	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562549	0.65538	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.77358	-1.09;-1.09	4.96	4.96	0.65561	Heat shock protein 70, conserved site (1);	0.000000	0.56097	U	0.000033	D	0.95379	0.8500	H	0.99998	5.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98593	1.0655	10	0.87932	D	0	-7.3342	18.2708	0.90068	0.0:0.0:1.0:0.0	.	341	P54652	HSP72_HUMAN	V	341;341;115	ENSP00000378199:G341V;ENSP00000247207:G341V	ENSP00000247207:G341V	G	+	2	0	HSPA2	64078342	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.865000	0.99609	2.318000	0.78349	0.558000	0.71614	GGC		0.617	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			7	33	1	0	0.00307968	0.00308	0.00317269	7	33				
FUT8	2530	broad.mit.edu	37	14	66208847	66208847	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:66208847C>T	ENST00000360689.5	+	11	3174	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y	FUT8_ENST00000557164.1_Missense_Mutation_p.H320Y|FUT8_ENST00000394585.1_Missense_Mutation_p.H483Y|FUT8_ENST00000417683.1_Missense_Mutation_p.H77Y|FUT8_ENST00000394586.2_Missense_Mutation_p.H483Y|FUT8_ENST00000358307.2_Missense_Mutation_p.H354Y	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	483	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.H483Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAAACACTACATCCTGATGC	0.388																																							uc001xin.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1447-1449)CAT>TAT		fucosyltransferase 8 isoform a							115.0	115.0	115.0					14																	66208847		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208847C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1447C>T	14.37:g.66208847C>T	ENSP00000353910:p.His483Tyr					FUT8_uc001xio.2_Missense_Mutation_p.H483Y|FUT8_uc010tsp.1_Missense_Mutation_p.H320Y|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.H483Y|FUT8_uc001xiq.2_Missense_Mutation_p.H354Y|FUT8_uc001xis.2_Missense_Mutation_p.H77Y	p.H483Y	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2644	+			483			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1447C>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723799	0.30593	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	6.17	6.17	0.99709	.	0.043874	0.85682	D	0.000000	T	0.14056	0.0340	N	0.12443	0.215	0.80722	D	1	B;B;P	0.48407	0.322;0.131;0.91	B;B;B	0.39503	0.033;0.022;0.301	T	0.07290	-1.0780	10	0.02654	T	1	-19.9373	18.3732	0.90420	0.0:1.0:0.0:0.0	.	77;354;483	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	Y	483;483;320;483;354;77	ENSP00000353910:H483Y;ENSP00000378087:H483Y;ENSP00000452433:H320Y;ENSP00000378086:H483Y;ENSP00000351057:H354Y;ENSP00000396770:H77Y	ENSP00000351057:H354Y	H	+	1	0	FUT8	65278600	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAT		0.388	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		32	219	0	0	0	0.00623	0	32	219				
LIN52	91750	broad.mit.edu	37	14	74551687	74551687	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:74551687C>G	ENST00000555028.1	+	1	189	c.22C>G	c.(22-24)Ccc>Gcc	p.P8A	LIN52_ENST00000554076.1_3'UTR|ALDH6A1_ENST00000553458.1_5'Flank|ALDH6A1_ENST00000350259.4_5'Flank|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 DREAM MuvB core complex component	8					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	DRM complex (GO:0070176)|nucleoplasm (GO:0005654)		p.P8A(1)		breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GATGGCGTCTCCCACAGACGG	0.552																																							uc001xpp.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(22-24)CCC>GCC		lin-52 homolog							165.0	161.0	162.0					14																	74551687		2203	4300	6503	SO:0001583	missense	91750							g.chr14:74551687C>G	AK023979	CCDS32120.1	14q24.2	2014-07-17	2014-07-17	2007-01-03	ENSG00000205659	ENSG00000205659			19856	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 46"", ""lin-52 homolog (C. elegans)"""	C14orf46		17075059, 21498570	Standard	NM_001024674		Approved		uc001xpp.2	Q52LA3	OTTHUMG00000171204	ENST00000555028.1:c.22C>G	14.37:g.74551687C>G	ENSP00000451812:p.Pro8Ala					LIN52_uc010asb.2_RNA|ALDH6A1_uc001xpo.2_5'Flank|ALDH6A1_uc010asa.2_5'Flank|ALDH6A1_uc010tuq.1_5'Flank	p.P8A	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)	1	32	+			8						Missense_Mutation	SNP	ENST00000555028.1	37	c.22C>G	CCDS32120.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810698	0.70797	.	.	ENSG00000205659	ENST00000555028;ENST00000381098;ENST00000554938	.	.	.	5.35	4.46	0.54185	.	0.164157	0.56097	D	0.000033	T	0.37128	0.0992	N	0.22421	0.69	0.42686	D	0.993566	B	0.30914	0.3	B	0.29077	0.098	T	0.34725	-0.9817	9	0.59425	D	0.04	-7.199	9.9931	0.41883	0.0:0.9087:0.0:0.0913	.	8	Q52LA3	LIN52_HUMAN	A	40;8;8	.	ENSP00000370488:P8A	P	+	1	0	LIN52	73621440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.916000	0.56416	1.497000	0.48584	0.561000	0.74099	CCC		0.552	LIN52-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412316.2			22	227	0	0	0	0.012213	0	22	227				
AREL1	9870	broad.mit.edu	37	14	75142464	75142464	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:75142464C>T	ENST00000356357.4	-	8	1533	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	340					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E340K(1)									GTGTGGCACTCAGAGGGCGAG	0.547																																							uc001xqb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1018-1020)GAG>AAG		hypothetical protein LOC9870							204.0	213.0	210.0					14																	75142464		2068	4214	6282	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75142464C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1018G>A	14.37:g.75142464C>T	ENSP00000348714:p.Glu340Lys					KIAA0317_uc010tut.1_Missense_Mutation_p.E179K|KIAA0317_uc001xqc.2_Missense_Mutation_p.E340K	p.E340K	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	8	1523	-			340					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1018G>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292492	0.80914	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.48836	0.8;0.8	5.92	5.92	0.95590	.	0.090390	0.85682	D	0.000000	T	0.38348	0.1037	L	0.29908	0.895	0.80722	D	1	B;B	0.29301	0.241;0.016	B;B	0.20767	0.031;0.007	T	0.10222	-1.0639	10	0.23891	T	0.37	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	340;340	O15033-2;O15033	.;K0317_HUMAN	K	340;179;179	ENSP00000348714:E340K;ENSP00000452101:E179K	ENSP00000348714:E340K	E	-	1	0	KIAA0317	74212217	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.590000	0.82653	2.809000	0.96659	0.467000	0.42956	GAG		0.547	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		27	501	0	0	0	0.010818	0	27	501				
C14orf178	283579	broad.mit.edu	37	14	78235900	78235900	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:78235900C>G	ENST00000355883.3	+	3	457	c.248C>G	c.(247-249)tCt>tGt	p.S83C	C14orf178_ENST00000556047.1_3'UTR|C14orf178_ENST00000557011.1_3'UTR|C14orf178_ENST00000439131.2_Missense_Mutation_p.S53C	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	83								p.S83C(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GTGAAAGATTCTACCTTTCTA	0.507																																							uc001xug.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)TCT>TGT		hypothetical protein LOC283579							78.0	69.0	72.0					14																	78235900		2203	4300	6503	SO:0001583	missense	283579							g.chr14:78235900C>G	AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.248C>G	14.37:g.78235900C>G	ENSP00000348145:p.Ser83Cys					C14orf178_uc001xuh.1_RNA	p.S83C	NM_174943	NP_777603	Q8N769	CN178_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	4	706	+			83					Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	c.248C>G	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646650	0.47258	.	.	ENSG00000197734	ENST00000439131;ENST00000355883	T;T	0.52057	0.68;1.27	2.03	1.1	0.20463	.	.	.	.	.	T	0.32315	0.0825	L	0.27053	0.805	0.09310	N	1	B	0.28850	0.225	B	0.31751	0.135	T	0.24548	-1.0157	9	0.36615	T	0.2	.	6.4242	0.21760	0.0:0.6251:0.3749:0.0	.	83	Q8N769	CN178_HUMAN	C	53;83	ENSP00000407405:S53C;ENSP00000348145:S83C	ENSP00000348145:S83C	S	+	2	0	C14orf178	77305653	0.000000	0.05858	0.014000	0.15608	0.515000	0.34225	-0.254000	0.08781	0.396000	0.25283	0.448000	0.29417	TCT		0.507	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943		5	17	0	0	0	0.014758	0	5	17				
PPP4R4	57718	broad.mit.edu	37	14	94733329	94733329	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:94733329C>G	ENST00000304338.3	+	23	2566	c.2412C>G	c.(2410-2412)gtC>gtG	p.V804V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	804					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.V804V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAACTTCTGTCTCAGGGTTAG	0.303																																							uc001ycs.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(2410-2412)GTC>GTG		HEAT-like repeat-containing protein isoform 1							83.0	82.0	82.0					14																	94733329		2201	4294	6495	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94733329C>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2412C>G	14.37:g.94733329C>G							p.V804V	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			23	2566	+			804					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.2412C>G	CCDS9921.1																																																																																				0.303	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		8	78	0	0	0	0.010729	0	8	78				
AHNAK2	113146	broad.mit.edu	37	14	105419327	105419327	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:105419327G>A	ENST00000333244.5	-	7	2580	c.2461C>T	c.(2461-2463)Ctg>Ttg	p.L821L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	821						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L821L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.602																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2461-2463)CTG>TTG		AHNAK nucleoprotein 2							197.0	218.0	211.0					14																	105419327		1933	4136	6069	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419327G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2461C>T	14.37:g.105419327G>A						AHNAK2_uc001ypx.2_Silent_p.L721L	p.L821L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2581	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	821					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2461C>T	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		26	135	0	0	0	0.00632	0	26	135				
CASC5	57082	broad.mit.edu	37	15	40902476	40902476	+	Silent	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:40902476G>C	ENST00000346991.5	+	6	621	c.231G>C	c.(229-231)gtG>gtC	p.V77V	CASC5_ENST00000527044.1_Silent_p.V77V|snoU13_ENST00000459027.1_RNA|CASC5_ENST00000399668.2_Silent_p.V77V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	77	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V77V(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGAAAATAGTGAGAAAGTCAG	0.294																																							uc010bbs.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(229-231)GTG>GTC		cancer susceptibility candidate 5 isoform 1							93.0	90.0	91.0					15																	40902476		1803	4064	5867	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40902476G>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.231G>C	15.37:g.40902476G>C						CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Silent_p.V77V|CASC5_uc010bbt.1_Silent_p.V77V	p.V77V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	6	392	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	77			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.231G>C	CCDS42023.1																																																																																				0.294	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		12	48	0	0	0	0.004007	0	12	48				
MAPKBP1	23005	broad.mit.edu	37	15	42108784	42108784	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:42108784G>C	ENST00000456763.2	+	14	1735	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E346D|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E507D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E507D|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E390D	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	513								p.E507D(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCTGAGTGAGATGCTGAAGG	0.582																																							uc001zok.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1537-1539)GAG>GAC		mitogen-activated protein kinase binding protein							85.0	70.0	75.0					15																	42108784		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42108784G>C	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1539G>C	15.37:g.42108784G>C	ENSP00000393099:p.Glu513Asp					MAPKBP1_uc001zoj.3_Missense_Mutation_p.E507D|MAPKBP1_uc010bcj.2_Missense_Mutation_p.E14D|MAPKBP1_uc010bci.2_Missense_Mutation_p.E507D|MAPKBP1_uc010udb.1_Missense_Mutation_p.E346D|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.E14D	p.E513D	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	14	1825	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	513			WD 7.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1539G>C	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.134165	0.77662	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.66815	4.98;0.34;0.99;-0.23;0.99	5.91	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.84683	2.71	0.42909	D	0.994256	D;P;D;D;D	0.89917	1.0;0.952;1.0;0.996;0.978	D;D;D;D;P	0.87578	0.996;0.931;0.998;0.977;0.883	T	0.81799	-0.0767	10	0.56958	D	0.05	-25.583	11.2667	0.49114	0.2755:0.0:0.7245:0.0	.	346;390;507;513;507	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	D	507;390;346;513;507	ENSP00000397570:E507D;ENSP00000221214:E390D;ENSP00000260357:E346D;ENSP00000393099:E513D;ENSP00000426154:E507D	ENSP00000221214:E390D	E	+	3	2	MAPKBP1	39896076	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.181000	0.42547	0.417000	0.25871	-0.797000	0.03246	GAG		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	32	0	0	0	0.014758	0	5	32				
CAPN3	825	broad.mit.edu	37	15	42678468	42678468	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:42678468G>A	ENST00000397163.3	+	3	702	c.483G>A	c.(481-483)ggG>ggA	p.G161G	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.G74G|CAPN3_ENST00000349748.3_Silent_p.G161G|CAPN3_ENST00000318023.7_Silent_p.G161G|CAPN3_ENST00000357568.3_Silent_p.G161G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	161	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.G74G(1)|p.G161G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACTACGCAGGGATCTTCCACT	0.547											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zpn.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1	GRCh37	CD062125	CAPN3	D		c.(481-483)GGG>GGA		calpain 3 isoform a							120.0	102.0	108.0					15																	42678468		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42678468G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.483G>A	15.37:g.42678468G>A			OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	910	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.G74G|CAPN3_uc010udf.1_Silent_p.G74G|CAPN3_uc010udg.1_Silent_p.G74G|CAPN3_uc001zpo.1_Silent_p.G161G|CAPN3_uc001zpp.1_Silent_p.G161G	p.G161G	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	3	789	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	161			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.483G>A	CCDS45245.1																																																																																				0.547	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			36	150	0	0	0	0.013114	0	36	150				
DMXL2	23312	broad.mit.edu	37	15	51792347	51792347	+	Missense_Mutation	SNP	C	C	T	rs138911498		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:51792347C>T	ENST00000251076.5	-	18	3361	c.3074G>A	c.(3073-3075)cGc>cAc	p.R1025H	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1025H|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1025						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R1025H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTCCAGAAGCGTACTTTATT	0.363																																							uc002abf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(3073-3075)CGC>CAC		Dmx-like 2							86.0	88.0	87.0					15																	51792347		2195	4292	6487	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51792347C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3074G>A	15.37:g.51792347C>T	ENSP00000251076:p.Arg1025His					DMXL2_uc010ufy.1_Missense_Mutation_p.R1025H|DMXL2_uc010bfa.2_Intron	p.R1025H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3299	-			1025			WD 8.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3074G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234280	0.79688	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.50001	0.76;0.76	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);	0.099975	0.64402	D	0.000002	T	0.72906	0.3519	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.75196	-0.3403	10	0.87932	D	0	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	1025;1025	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	H	1025	ENSP00000251076:R1025H;ENSP00000441858:R1025H	ENSP00000251076:R1025H	R	-	2	0	DMXL2	49579639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.746000	0.94184	0.591000	0.81541	CGC		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		22	178	0	0	0	0.016522	0	22	178				
SMAD3	4088	broad.mit.edu	37	15	67473637	67473637	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:67473637G>A	ENST00000327367.4	+	6	1027	c.717G>A	c.(715-717)gaG>gaA	p.E239E	SMAD3_ENST00000537194.2_Silent_p.E44E|SMAD3_ENST00000439724.3_Silent_p.E195E|SMAD3_ENST00000540846.2_Silent_p.E134E	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	239	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		E -> K (in LDS3). {ECO:0000269|PubMed:21778426}.		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)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E239E(1)|p.E195E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTACTACGAGCTGAACCAGC	0.612																																							uc002aqj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(715-717)GAG>GAA		mothers against decapentaplegic homolog 3							80.0	62.0	68.0					15																	67473637		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473637G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.717G>A	15.37:g.67473637G>A						SMAD3_uc010ujr.1_Silent_p.E134E|SMAD3_uc010ujs.1_Silent_p.E195E|SMAD3_uc010ujt.1_Silent_p.E44E	p.E239E	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1015	+			239			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.717G>A	CCDS10222.1																																																																																				0.612	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		13	85	0	0	0	0.004007	0	13	85				
GLCE	26035	broad.mit.edu	37	15	69548421	69548421	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr15:69548421T>A	ENST00000261858.2	+	3	504	c.276T>A	c.(274-276)aaT>aaA	p.N92K	GLCE_ENST00000559420.2_Missense_Mutation_p.N28K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	92					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.N92K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGGGCTTCAATAGCAATGTGG	0.453																																							uc002ary.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)AAT>AAA		D-glucuronyl C5-epimerase							129.0	118.0	122.0					15																	69548421		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69548421T>A	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.276T>A	15.37:g.69548421T>A	ENSP00000261858:p.Asn92Lys						p.N92K	NM_015554	NP_056369	O94923	GLCE_HUMAN			3	504	+			92			Lumenal (Potential).		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.276T>A	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258442	0.23051	.	.	ENSG00000138604	ENST00000261858	T	0.31510	1.49	5.0	-4.24	0.03777	.	0.319074	0.30492	N	0.009519	T	0.08891	0.0220	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27502	-1.0072	10	0.30078	T	0.28	-6.6304	13.4939	0.61414	0.0:0.74:0.0:0.26	.	92	O94923	GLCE_HUMAN	K	92	ENSP00000261858:N92K	ENSP00000261858:N92K	N	+	3	2	GLCE	67335475	0.736000	0.28164	0.112000	0.21494	0.505000	0.33919	-0.488000	0.06497	-0.635000	0.05531	-0.250000	0.11733	AAT		0.453	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		75	410	0	0	0	0.01441	0	75	410				
PARN	5073	broad.mit.edu	37	16	14645891	14645891	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:14645891C>T	ENST00000437198.2	-	21	1608	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	PARN_ENST00000539279.1_Silent_p.E314E|PARN_ENST00000420015.2_Silent_p.E443E|PARN_ENST00000341484.7_Silent_p.E428E	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	489					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.E489E(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCTTTACTTGCTCGGGCTGGC	0.403																																							uc010uzd.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1465-1467)GAG>GAA		poly(A)-specific ribonuclease (deadenylation							177.0	170.0	173.0					16																	14645891		1887	4101	5988	SO:0001819	synonymous_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14645891C>T	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1467G>A	16.37:g.14645891C>T						PARN_uc010uzc.1_Silent_p.E428E|PARN_uc010uze.1_Silent_p.E443E|PARN_uc010uzf.1_Silent_p.E314E	p.E489E	NM_002582	NP_002573	O95453	PARN_HUMAN			21	1609	-			489					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	c.1467G>A	CCDS45419.1																																																																																				0.403	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		88	429	0	0	0	0.01441	0	88	429				
ABCC1	4363	broad.mit.edu	37	16	16225762	16225762	+	Silent	SNP	C	C	T	rs369198761		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:16225762C>T	ENST00000399410.3	+	27	4111	c.3936C>T	c.(3934-3936)caC>caT	p.H1312H	ABCC1_ENST00000345148.5_Silent_p.H1312H|ABCC1_ENST00000346370.5_Silent_p.H1256H|ABCC1_ENST00000351154.5_Silent_p.H1253H|ABCC1_ENST00000349029.5_Silent_p.H1197H|ABCC1_ENST00000399408.2_Silent_p.H1322H	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1312	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.H1312H(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTCTCAGGCACATCAATGTCA	0.612																																							uc010bvi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3934-3936)CAC>CAT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	C	,,,,	3,4131		0,3,2064	77.0	76.0	76.0		3936,3759,3768,3591,3936	-0.2	0.8	16		76	0,8440		0,0,4220	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,3,6284	TT,TC,CC		0.0,0.0726,0.0239	,,,,	1312/1532,1253/1473,1256/1476,1197/1417,1312/1467	16225762	3,12571	2067	4220	6287	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16225762C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3936C>T	16.37:g.16225762C>T						ABCC1_uc010bvj.2_Silent_p.H1253H|ABCC1_uc010bvk.2_Silent_p.H1256H|ABCC1_uc010bvl.2_Silent_p.H1312H|ABCC1_uc010bvm.2_Silent_p.H1197H|ABCC1_uc002del.3_Silent_p.H1206H	p.H1312H	NM_004996	NP_004987	P33527	MRP1_HUMAN			27	4111	+			1312			ABC transporter 2.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3936C>T	CCDS42122.1																																																																																				0.612	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		26	187	0	0	0	0.008361	0	26	187				
IL21R	50615	broad.mit.edu	37	16	27457349	27457349	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:27457349C>A	ENST00000337929.3	+	8	1280	c.807C>A	c.(805-807)gcC>gcA	p.A269A	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Silent_p.A269A|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Silent_p.A269A|IL21R_ENST00000395755.1_Silent_p.A269A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	269					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.A269A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGATATGGGCCGTCCCCAGCC	0.637			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(805-807)GCC>GCA		interleukin 21 receptor precursor							62.0	56.0	58.0					16																	27457349		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27457349C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.807C>A	16.37:g.27457349C>A						IL21R_uc002dor.1_Silent_p.A269A|IL21R_uc002dos.1_Silent_p.A269A	p.A269A	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			8	1040	+			269			Cytoplasmic (Potential).|Box 1 motif.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.807C>A	CCDS10630.1																																																																																				0.637	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		10	51	1	0	0.00136819	0.013537	0.00142385	10	51				
CES1P1	51716	broad.mit.edu	37	16	55806409	55806409	+	RNA	SNP	T	T	C	rs28366434	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:55806409T>C	ENST00000571348.1	+	0	711					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GGAGGGTCAGTGGGAGGAGAA	0.567													.|||	3251	0.649161	0.7337	0.7003	5008	,	,		16158	0.372		0.7823	False		,,,				2504	0.6472						uc002eik.2		NA																	0					0						c.(259-261)GTG>GCG		RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3;          Short=PCE-3; Flags: Precursor;																																						51716							g.chr16:55806409T>C	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55806409T>C						CES4_uc010cce.2_Missense_Mutation_p.V87A	p.V87A	NR_003276						5	711	+								A2RRL8|B9ZVS2	Missense_Mutation	SNP	ENST00000571348.1	37	c.260T>C																																																																																					0.567	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		3	37	0	0	0	0.004672	0	3	37				
KIFC3	3801	broad.mit.edu	37	16	57805461	57805461	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr16:57805461G>C	ENST00000379655.4	-	5	776	c.519C>G	c.(517-519)caC>caG	p.H173Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.H195Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.H34Q|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000465878.2_Missense_Mutation_p.H34Q|KIFC3_ENST00000540079.2_Missense_Mutation_p.H71Q|KIFC3_ENST00000539578.1_Missense_Mutation_p.H115Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.H34Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.H34Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.H173Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	173					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H173Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCACCTGGCTGTGCTCACAAC	0.642																																							uc002emp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(517-519)CAC>CAG		kinesin family member C3 isoform 1							94.0	71.0	79.0					16																	57805461		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57805461G>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.519C>G	16.37:g.57805461G>C	ENSP00000368976:p.His173Gln					KIFC3_uc010vhw.1_Missense_Mutation_p.H71Q|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.H34Q|KIFC3_uc010vhx.1_Missense_Mutation_p.H34Q|KIFC3_uc010cdf.2_Missense_Mutation_p.H34Q|KIFC3_uc002emo.3_Missense_Mutation_p.H34Q|KIFC3_uc010vhy.1_Missense_Mutation_p.H115Q|KIFC3_uc002emq.2_Missense_Mutation_p.H173Q|KIFC3_uc010vhz.1_Missense_Mutation_p.H195Q|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_RNA	p.H173Q	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN			5	716	-		all_neural(199;0.224)	173			Potential.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.519C>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765987	0.49574	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74421	-0.77;-0.76;-0.76;-0.77;-0.74;-0.84;-0.74	5.09	5.09	0.68999	.	0.124893	0.52532	D	0.000067	T	0.68851	0.3046	L	0.50333	1.59	0.49213	D	0.999761	P;P;P;P;P;P	0.45283	0.627;0.589;0.779;0.73;0.855;0.779	B;B;B;B;B;B	0.42422	0.14;0.202;0.216;0.387;0.289;0.368	T	0.66023	-0.6026	10	0.12766	T	0.61	.	15.2297	0.73378	0.0:0.0:1.0:0.0	.	195;115;34;71;173;34	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	Q	173;173;34;195;71;34;115	ENSP00000368976:H173Q;ENSP00000401696:H173Q;ENSP00000396399:H34Q;ENSP00000442008:H195Q;ENSP00000438805:H71Q;ENSP00000444012:H34Q;ENSP00000444884:H115Q	ENSP00000368976:H173Q	H	-	3	2	KIFC3	56362962	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.053000	0.49901	2.379000	0.81126	0.655000	0.94253	CAC		0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		7	50	0	0	0	0.001984	0	7	50				
PELP1	27043	broad.mit.edu	37	17	4575522	4575522	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:4575522C>G	ENST00000574876.1	-	16	2781	c.2764G>C	c.(2764-2766)Gaa>Caa	p.E922Q	PELP1_ENST00000572293.1_Missense_Mutation_p.E972Q|PELP1_ENST00000436683.2_Missense_Mutation_p.E775Q|PELP1_ENST00000269230.7_Missense_Mutation_p.E832Q|PELP1_ENST00000301396.4_Missense_Mutation_p.E1066Q			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	922	Glu-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.E1066Q(1)|p.E972Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						tcttcctcttcaaaatattcc	0.443																																							uc002fyi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2764-2766)GAA>CAA		proline, glutamic acid and leucine rich protein							33.0	33.0	33.0					17																	4575522		2045	4153	6198	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575522C>G		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2764G>C	17.37:g.4575522C>G	ENSP00000461625:p.Glu922Gln					PELP1_uc010vsf.1_Missense_Mutation_p.E775Q	p.E922Q	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			16	2990	-			922			Glu-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.2764G>C	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647821	0.29336	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;D	0.97232	0.58;0.59;-4.3	4.61	4.61	0.57282	.	0.471231	0.16149	U	0.227351	D	0.97504	0.9183	L	0.55481	1.735	0.38306	D	0.943123	D;D	0.76494	0.999;0.999	D;D	0.66716	0.922;0.946	D	0.97459	1.0033	10	0.33940	T	0.23	-7.4422	14.9513	0.71077	0.0:1.0:0.0:0.0	.	775;922	E7EV54;Q8IZL8	.;PELP1_HUMAN	Q	1066;832;775	ENSP00000301396:E1066Q;ENSP00000269230:E832Q;ENSP00000416231:E775Q	ENSP00000269230:E832Q	E	-	1	0	AC091153.1	4522271	0.915000	0.31059	1.000000	0.80357	0.972000	0.66771	2.555000	0.45854	2.102000	0.63906	0.655000	0.94253	GAA		0.443	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		3	4	0	0	0	0.009096	0	3	4				
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCCATGGCGCGGACGCGG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	50.0					17																	7578455		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578455C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	p.A159P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	669	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.475G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	162	0	0	0	0.006999	0	36	162				
ARHGEF15	22899	broad.mit.edu	37	17	8219171	8219171	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:8219171A>T	ENST00000361926.3	+	8	1630	c.1520A>T	c.(1519-1521)tAt>tTt	p.Y507F	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Y507F|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	507	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y507F(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTCTCGGTGTATGTGGATTAT	0.597																																							uc002glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1519-1521)TAT>TTT		Rho guanine exchange factor 15							83.0	78.0	80.0					17																	8219171		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8219171A>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1520A>T	17.37:g.8219171A>T	ENSP00000355026:p.Tyr507Phe					ARHGEF15_uc002gld.2_Missense_Mutation_p.Y507F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.Y396F	p.Y507F	NM_173728	NP_776089	O94989	ARHGF_HUMAN			8	1641	+			507			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1520A>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	a	26.2	4.710171	0.89018	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.61158	0.13;0.13	4.94	4.94	0.65067	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.67953	2.075	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74973	-0.3481	10	0.59425	D	0.04	-13.8596	12.5944	0.56461	1.0:0.0:0.0:0.0	.	507;507	D3DTR7;O94989	.;ARHGF_HUMAN	F	507;297;507	ENSP00000355026:Y507F;ENSP00000412505:Y507F	ENSP00000355026:Y507F	Y	+	2	0	ARHGEF15	8159896	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	5.511000	0.67024	2.086000	0.62901	0.459000	0.35465	TAT		0.597	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		19	40	0	0	0	0.016522	0	19	40				
MYH13	8735	broad.mit.edu	37	17	10212691	10212691	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:10212691T>C	ENST00000418404.3	-	34	5192	c.5029A>G	c.(5029-5031)Atc>Gtc	p.I1677V	MYH13_ENST00000252172.4_Missense_Mutation_p.I1677V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1677					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I1677V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGCTCCACGATGGCCAGCTGC	0.642																																							uc002gmk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5029-5031)ATC>GTC		myosin, heavy polypeptide 13, skeletal muscle							20.0	21.0	21.0					17																	10212691		2151	4267	6418	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212691T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5029A>G	17.37:g.10212691T>C	ENSP00000404570:p.Ile1677Val						p.I1677V	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			35	5119	-			1677			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5029A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484768	0.12641	.	.	ENSG00000006788	ENST00000252172	D	0.82619	-1.63	4.34	1.94	0.25998	Myosin tail (1);	.	.	.	.	T	0.59595	0.2205	N	0.03999	-0.3	0.24954	N	0.991771	B	0.06786	0.001	B	0.11329	0.006	T	0.47315	-0.9127	9	0.10377	T	0.69	.	6.174	0.20433	0.0:0.1615:0.2103:0.6282	.	1677	Q9UKX3	MYH13_HUMAN	V	1677	ENSP00000252172:I1677V	ENSP00000252172:I1677V	I	-	1	0	MYH13	10153416	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	1.306000	0.33505	0.811000	0.34303	0.533000	0.62120	ATC		0.642	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	25	0	0	0	0.00308	0	6	25				
MYH1	4619	broad.mit.edu	37	17	10409227	10409227	+	Silent	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:10409227A>T	ENST00000226207.5	-	19	2170	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	692	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L692L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCAGGACAAGCTCATGCT	0.478																																							uc002gmo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2074-2076)CTT>CTA		myosin, heavy chain 1, skeletal muscle, adult							107.0	90.0	96.0					17																	10409227		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409227A>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2076T>A	17.37:g.10409227A>T						uc002gml.1_Intron	p.L692L	NM_005963	NP_005954	P12882	MYH1_HUMAN			19	2170	-			692			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2076T>A	CCDS11155.1																																																																																				0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		18	136	0	0	0	0.008871	0	18	136				
CCDC144NL	339184	broad.mit.edu	37	17	20799042	20799042	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:20799042G>T	ENST00000327925.5	-	1	411	c.292C>A	c.(292-294)Cac>Aac	p.H98N	RP11-344E13.3_ENST00000417232.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	98								p.H98N(1)		large_intestine(3)|lung(3)|skin(1)	7						GCCAAGACGTGCTCCACCCCA	0.642																																							uc002gyf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAC>AAC		coiled-coil domain containing 144 family,							70.0	81.0	77.0					17																	20799042		2202	4278	6480	SO:0001583	missense	339184							g.chr17:20799042G>T		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.292C>A	17.37:g.20799042G>T	ENSP00000328054:p.His98Asn					uc002gyg.1_Intron|uc002gyh.1_Intron	p.H98N	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			1	412	-			98						Missense_Mutation	SNP	ENST00000327925.5	37	c.292C>A	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	g	4.839	0.156065	0.09236	.	.	ENSG00000205212	ENST00000327925	T	0.18810	2.19	0.87	0.87	0.19102	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	B	0.27823	0.19	B	0.19666	0.026	T	0.27191	-1.0081	9	0.40728	T	0.16	.	5.162	0.15066	0.0:0.0:1.0:0.0	.	98	Q6NUI1	C144L_HUMAN	N	98	ENSP00000328054:H98N	ENSP00000328054:H98N	H	-	1	0	CCDC144NL	20739634	0.023000	0.18921	0.003000	0.11579	0.020000	0.10135	0.314000	0.19432	0.809000	0.34255	0.274000	0.19336	CAC		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		29	191	1	0	1.05386e-31	0.01441	1.31518e-31	29	191				
LIG3	3980	broad.mit.edu	37	17	33328387	33328387	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:33328387G>C	ENST00000378526.4	+	17	2576	c.2443G>C	c.(2443-2445)Gac>Cac	p.D815H	LIG3_ENST00000262327.5_Missense_Mutation_p.D815H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	815					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.D728H(1)|p.D815H(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGATGATAAGGACTGGAAATC	0.537								Other BER factors																															uc002hik.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(2443-2445)GAC>CAC	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						94.0	89.0	91.0					17																	33328387		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33328387G>C		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2443G>C	17.37:g.33328387G>C	ENSP00000367787:p.Asp815His					LIG3_uc002hij.2_Missense_Mutation_p.D815H	p.D815H	NM_013975	NP_039269	P49916	DNLI3_HUMAN			17	2551	+		Ovarian(249;0.17)	815					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.2443G>C	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965276	0.92855	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.65916	-0.18;-0.18	5.97	5.97	0.96955	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.093133	0.85682	D	0.000000	T	0.71660	0.3366	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.971	T	0.73119	-0.4083	10	0.72032	D	0.01	-22.3046	19.4161	0.94700	0.0:0.0:1.0:0.0	.	815;815	P49916;E5KLB6	DNLI3_HUMAN;.	H	815	ENSP00000367787:D815H;ENSP00000262327:D815H	ENSP00000262327:D815H	D	+	1	0	LIG3	30352500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.837000	0.97791	0.655000	0.94253	GAC		0.537	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		3	90	0	0	0	0.014758	0	3	90				
TADA2A	6871	broad.mit.edu	37	17	35830621	35830621	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:35830621G>A	ENST00000394395.2	+	13	1186	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.R338H	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	338					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.R338H(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CAGTGGCTCCGCCGGCAAGCT	0.517																																							uc002hnt.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|skin(1)	4						c.(1012-1014)CGC>CAC		transcriptional adaptor 2A isoform a							101.0	99.0	99.0					17																	35830621		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830621G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1013G>A	17.37:g.35830621G>A	ENSP00000377918:p.Arg338His					TADA2A_uc002hnv.2_Missense_Mutation_p.R338H|TADA2A_uc002hnw.2_Missense_Mutation_p.R237H|TADA2A_uc010cvb.2_Missense_Mutation_p.R134H	p.R338H	NM_001488	NP_001479	O75478	TAD2A_HUMAN			13	1170	+			338					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1013G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371547	0.42003	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.42900	0.96;0.96	5.61	5.61	0.85477	.	0.220348	0.52532	D	0.000061	T	0.24392	0.0591	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.34782	T	0.22	-9.2629	12.9091	0.58171	0.0739:0.0:0.9261:0.0	.	338	O75478	TAD2A_HUMAN	H	338;237;338	ENSP00000377918:R338H;ENSP00000225396:R338H	ENSP00000225396:R338H	R	+	2	0	TADA2A	32904734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.589000	0.67523	2.631000	0.89168	0.655000	0.94253	CGC		0.517	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		6	239	0	0	0	0.001984	0	6	239				
RPL19	6143	broad.mit.edu	37	17	37358692	37358692	+	Splice_Site	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:37358692G>T	ENST00000225430.4	+	3	297	c.235G>T	c.(235-237)Ggt>Tgt	p.G79C	RPL19_ENST00000579260.1_Splice_Site_p.G77C|RPL19_ENST00000582193.1_Splice_Site_p.G77C|RPL19_ENST00000579374.1_Splice_Site_p.G76C	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.G79C(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CATGGGCATAGGTAAGTGTGG	0.512																																							uc002hrq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GGT>TGT		ribosomal protein L19							59.0	59.0	59.0					17																	37358692		1943	4139	6082	SO:0001630	splice_region_variant	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37358692G>T		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.235+1G>T	17.37:g.37358692G>T						RPL19_uc002hrr.1_Missense_Mutation_p.G77C	p.G79C	NM_000981	NP_000972	P84098	RL19_HUMAN			3	297	+			79					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.235G>T	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.750128	0.89753	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.44	4.48	0.54585	Ribosomal protein L19/L19e (2);	0.069136	0.56097	D	0.000022	D	0.90535	0.7034	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93829	0.7126	9	0.87932	D	0	.	13.8449	0.63461	0.073:0.0:0.927:0.0	.	79	P84098	RL19_HUMAN	C	79	.	ENSP00000225430:G79C	G	+	1	0	RPL19	34612218	1.000000	0.71417	0.975000	0.42487	0.958000	0.62258	9.647000	0.98478	1.292000	0.44672	0.655000	0.94253	GGT		0.512	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981	Missense_Mutation	17	78	1	0	7.87624e-14	0.016522	9.09025e-14	17	78				
MED1	5469	broad.mit.edu	37	17	37564803	37564803	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:37564803G>A	ENST00000300651.6	-	17	3894	c.3671C>T	c.(3670-3672)cCt>cTt	p.P1224L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.P1224L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGAACTGATAGGGGACTTGGC	0.507										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3670-3672)CCT>CTT		mediator complex subunit 1							79.0	80.0	80.0					17																	37564803		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564803G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3671C>T	17.37:g.37564803G>A	ENSP00000300651:p.Pro1224Leu	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1052L|MED1_uc002hru.2_Intron	p.P1224L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3883	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1224			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3671C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.842112	0.71488	.	.	ENSG00000125686	ENST00000300651	T	0.65916	-0.18	5.35	5.35	0.76521	.	.	.	.	.	T	0.71031	0.3292	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73347	-0.4011	9	0.72032	D	0.01	-13.3158	19.6142	0.95626	0.0:0.0:1.0:0.0	.	1224	Q15648	MED1_HUMAN	L	1224	ENSP00000300651:P1224L	ENSP00000300651:P1224L	P	-	2	0	MED1	34818329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.559000	0.98135	2.941000	0.99782	0.655000	0.94253	CCT		0.507	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		11	48	0	0	0	0.008291	0	11	48				
KRTAP1-3	81850	broad.mit.edu	37	17	39191008	39191009	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39191008_39191009GG>AT	ENST00000344363.5	-	1	98_99	c.65_66CC>AT	c.(64-66)tCC>tAT	p.S22Y		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	22						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S22Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCAGCTGGAGCCGCATGT	0.589																																							uc002hvv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)TCC>TAT		keratin associated protein 1-3																																				SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39191008_39191009GG>AT	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.65_66delinsAT	17.37:g.39191008_39191009delinsAT	ENSP00000344420:p.Ser22Tyr						p.S22Y	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	99_100	-		Breast(137;0.000496)	22					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	DNP	ENST00000344363.5	37	c.65_66CC>AT	CCDS42323.1																																																																																				0.589	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			8	94	0	0	0	0.004672	0	8	94				
KRTAP1-3	81850	broad.mit.edu	37	17	39191048	39191048	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39191048C>G	ENST00000344363.5	-	1	59	c.26G>C	c.(25-27)tGt>tCt	p.C9S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	9						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C9S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGGATATCCACAGAAGCTGGT	0.592																																							uc002hvv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)TGT>TCT		keratin associated protein 1-3							58.0	65.0	63.0					17																	39191048		1971	4163	6134	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39191048C>G	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.26G>C	17.37:g.39191048C>G	ENSP00000344420:p.Cys9Ser						p.C9S	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	60	-		Breast(137;0.000496)	9					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.26G>C	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313774	0.23908	.	.	ENSG00000221880	ENST00000344363	T	0.39056	1.1	4.54	3.56	0.40772	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.34327	D	0.68724	B	0.17268	0.021	B	0.17722	0.019	T	0.46992	-0.9151	8	0.59425	D	0.04	.	10.7327	0.46107	0.0:0.8079:0.1921:0.0	.	9	Q8IUG1	KRA13_HUMAN	S	9	ENSP00000344420:C9S	ENSP00000344420:C9S	C	-	2	0	KRTAP1-3	36444574	1.000000	0.71417	0.999000	0.59377	0.090000	0.18270	2.721000	0.47260	1.488000	0.48433	0.655000	0.94253	TGT		0.592	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			13	96	0	0	0	0.006122	0	13	96				
KRT38	8687	broad.mit.edu	37	17	39595502	39595503	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:39595502_39595503CC>AG	ENST00000246646.3	-	3	683_684	c.684_685GG>CT	c.(682-687)caGGag>caCTag	p.228_229QE>H*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	228	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.Q228_E229>H*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTCAGGGACTCCTGCTGGGCCT	0.658																																							uc002hwq.1		NA																	1	Complex - compound substitution(1)		lung(1)	skin(2)	2						c.(682-687)CAGGAG>CACTAG		keratin 38																																				SO:0001587	stop_gained	8687					intermediate filament	structural molecule activity	g.chr17:39595502_39595503CC>AG	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.684_685delinsAG	17.37:g.39595502_39595503delinsAG	ENSP00000246646:p.Q228_E229delinsH*						p.228_229QE>H*	NM_006771	NP_006762	O76015	KRT38_HUMAN			3	1107_1108	-		Breast(137;0.000496)	228_229			Rod.|Coil 1B.		A2RRM5|Q6A164	Nonsense_Mutation	DNP	ENST00000246646.3	37	c.684_685GG>CT	CCDS11392.1																																																																																				0.658	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		14	84	0	0	0	0.004672	0	14	84				
BRIP1	83990	broad.mit.edu	37	17	59760881	59760881	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:59760881T>G	ENST00000259008.2	-	20	3793	c.3526A>C	c.(3526-3528)Ata>Cta	p.I1176L		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1176					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I1176L(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTCTTTTATAGTTCTAATT	0.318			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3526-3528)ATA>CTA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							69.0	68.0	69.0					17																	59760881		2201	4296	6497	SO:0001583	missense	83990	FanconAnemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760881T>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3526A>C	17.37:g.59760881T>G	ENSP00000259008:p.Ile1176Leu						p.I1176L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			20	3667	-			1176					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3526A>C	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	3.697	-0.062330	0.07273	.	.	ENSG00000136492	ENST00000259008	T	0.72942	-0.7	4.76	-3.88	0.04205	.	3.127500	0.00531	N	0.000217	T	0.44201	0.1282	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	9	.	.	.	11.9034	1.8496	0.03166	0.1273:0.3308:0.2606:0.2813	.	1176	Q9BX63	FANCJ_HUMAN	L	1176	ENSP00000259008:I1176L	.	I	-	1	0	BRIP1	57115663	0.015000	0.18098	0.003000	0.11579	0.001000	0.01503	-0.053000	0.11846	-0.622000	0.05626	-0.371000	0.07208	ATA		0.318	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		16	45	0	0	0	0.006122	0	16	45				
SRP68	6730	broad.mit.edu	37	17	74046574	74046574	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:74046574C>G	ENST00000307877.2	-	9	1173	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	SRP68_ENST00000355113.5_Missense_Mutation_p.E237Q|SRP68_ENST00000539137.1_Missense_Mutation_p.E300Q|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	338					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.E338Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AGCATTGATTCAAACAGGCGC	0.527																																							uc002jqk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)GAA>CAA		signal recognition particle 68kDa							116.0	99.0	105.0					17																	74046574		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74046574C>G	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1012G>C	17.37:g.74046574C>G	ENSP00000312066:p.Glu338Gln					SRP68_uc010wsu.1_Missense_Mutation_p.E237Q|SRP68_uc002jql.1_Missense_Mutation_p.E300Q|SRP68_uc002jqj.1_5'UTR	p.E338Q	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			9	1047	-			338					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.1012G>C	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564095	0.96527	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.83223	2.63	0.80722	D	1	D;D	0.63880	0.976;0.993	P;P	0.57057	0.677;0.812	T	0.80881	-0.1184	9	0.66056	D	0.02	-29.3397	19.1942	0.93681	0.0:1.0:0.0:0.0	.	300;338	G3V1U4;Q9UHB9	.;SRP68_HUMAN	Q	78;300;338;338;307;237	.	ENSP00000307756:E307Q	E	-	1	0	SRP68	71558169	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.250000	0.78287	2.785000	0.95823	0.655000	0.94253	GAA		0.527	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		32	170	0	0	0	0.005524	0	32	170				
SRP68	6730	broad.mit.edu	37	17	74046604	74046604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:74046604C>A	ENST00000307877.2	-	9	1143	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	SRP68_ENST00000355113.5_Nonsense_Mutation_p.E227*|SRP68_ENST00000539137.1_Nonsense_Mutation_p.E290*|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000602720.1_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	328					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.E328K(1)|p.E328*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCTTCGCTTTCAGCCTAAACA	0.512																																							uc002jqk.1		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.E328K(1)	ovary(1)|lung(1)	ovary(1)	1						c.(982-984)GAA>TAA		signal recognition particle 68kDa							89.0	76.0	80.0					17																	74046604		2203	4300	6503	SO:0001587	stop_gained	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74046604C>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.982G>T	17.37:g.74046604C>A	ENSP00000312066:p.Glu328*					SRP68_uc010wsu.1_Nonsense_Mutation_p.E227*|SRP68_uc002jql.1_Nonsense_Mutation_p.E290*|SRP68_uc002jqj.1_5'UTR	p.E328*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			9	1017	-			328					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Nonsense_Mutation	SNP	ENST00000307877.2	37	c.982G>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	38	6.698362	0.97772	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.87	4.88	0.63580	.	0.136685	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-26.9773	16.0087	0.80380	0.0:0.8653:0.1347:0.0	.	.	.	.	X	68;290;328;328;297;227	.	ENSP00000307756:E297X	E	-	1	0	SRP68	71558199	0.999000	0.42202	0.984000	0.44739	0.969000	0.65631	4.339000	0.59322	1.459000	0.47892	0.655000	0.94253	GAA		0.512	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		24	128	1	0	1.17739e-12	0.005443	1.34372e-12	24	128				
CIDEA	1149	broad.mit.edu	37	18	12274208	12274208	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:12274208C>A	ENST00000320477.9	+	4	512	c.447C>A	c.(445-447)gcC>gcA	p.A149A	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	149					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A183A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACGTGAAGGCCACCATGTATG	0.592																																							uc002kqt.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(445-447)GCC>GCA		cell death-inducing DFFA-like effector a isoform							150.0	118.0	129.0					18																	12274208		2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274208C>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.447C>A	18.37:g.12274208C>A						CIDEA_uc002kqu.3_Silent_p.A183A|CIDEA_uc010dlc.2_RNA	p.A149A	NM_001279	NP_001270	O60543	CIDEA_HUMAN			4	512	+			149					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.447C>A	CCDS11856.1																																																																																				0.592	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		33	151	1	0	6.53348e-20	0.017118	7.89676e-20	33	151				
DSG1	1828	broad.mit.edu	37	18	28934418	28934418	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:28934418T>A	ENST00000257192.4	+	15	2471	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.P112P|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	753					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.P753P(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCTGGGACCTAAATTTAAGA	0.473																																							uc002kwp.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2257-2259)CCT>CCA		desmoglein 1 preproprotein							116.0	117.0	116.0					18																	28934418		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934418T>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2259T>A	18.37:g.28934418T>A						DSG1_uc010xbp.1_Silent_p.P112P	p.P753P	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2471	+			753			Cytoplasmic (Potential).		B7Z845	Silent	SNP	ENST00000257192.4	37	c.2259T>A	CCDS11896.1																																																																																				0.473	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		61	271	0	0	0	0.01441	0	61	271				
ONECUT2	9480	broad.mit.edu	37	18	55143772	55143772	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:55143772C>G	ENST00000491143.2	+	2	1364	c.1332C>G	c.(1330-1332)atC>atG	p.I444M		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	444					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I444M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTTCGCCATCTTCAAGGAGA	0.527																																							uc002lgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1330-1332)ATC>ATG		one cut domain, family member 2							63.0	70.0	68.0					18																	55143772		2072	4221	6293	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143772C>G	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1332C>G	18.37:g.55143772C>G	ENSP00000419185:p.Ile444Met						p.I444M	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1364	+		Colorectal(73;0.234)	444			Homeobox.			Missense_Mutation	SNP	ENST00000491143.2	37	c.1332C>G	CCDS42440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.244785|3.244785	0.59103|0.59103	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000491143;ENST00000262095|ENST00000481727	.|.	.|.	.|.	6.02|6.02	5.15|5.15	0.70609|0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71896|0.71896	0.3394|0.3394	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.67145|.	0.996|.	D|.	0.91635|.	0.999|.	T|T	0.72620|0.72620	-0.4238|-0.4238	9|5	0.87932|.	D|.	0|.	-18.1727|-18.1727	11.1458|11.1458	0.48430|0.48430	0.0:0.8584:0.0:0.1416|0.0:0.8584:0.0:0.1416	.|.	444|.	O95948|.	ONEC2_HUMAN|.	M|V	425;444|73	.|.	ENSP00000262095:I444M|.	I|L	+|+	3|1	3|0	ONECUT2|ONECUT2	53294770|53294770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.125000|3.125000	0.50469|0.50469	1.557000|1.557000	0.49525|0.49525	0.650000|0.650000	0.86243|0.86243	ATC|CTT		0.527	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			18	73	0	0	0	0.006122	0	18	73				
CDH20	28316	broad.mit.edu	37	18	59212284	59212284	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr18:59212284G>T	ENST00000262717.4	+	10	1953	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	CDH20_ENST00000538374.1_Missense_Mutation_p.D519Y|CDH20_ENST00000536675.2_Missense_Mutation_p.D519Y			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	519	Cadherin 5. {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)	p.D519Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGTGCGGTGGACCAAGATGA	0.512																																							uc010dps.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1555-1557)GAC>TAC		cadherin 20, type 2 preproprotein							159.0	126.0	137.0					18																	59212284		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59212284G>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1555G>T	18.37:g.59212284G>T	ENSP00000262717:p.Asp519Tyr					CDH20_uc002lif.2_Missense_Mutation_p.D513Y	p.D519Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			9	1567	+		Colorectal(73;0.186)	519			Cadherin 5.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1555G>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092624	0.94149	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.43294	0.95;0.95;0.95	6.01	6.01	0.97437	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87836	0.2648	10	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	519	Q9HBT6	CAD20_HUMAN	Y	519	ENSP00000444767:D519Y;ENSP00000442226:D519Y;ENSP00000262717:D519Y	ENSP00000262717:D519Y	D	+	1	0	CDH20	57363264	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.861000	0.98227	0.650000	0.86243	GAC		0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		37	215	1	0	2.2871e-25	0.007835	2.81983e-25	37	215				
XAB2	56949	broad.mit.edu	37	19	7692716	7692716	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:7692716G>A	ENST00000358368.4	-	3	259	c.222C>T	c.(220-222)taC>taT	p.Y74Y	PET100_ENST00000456958.3_5'Flank|PET100_ENST00000601406.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.Y71Y|PET100_ENST00000594797.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	74					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y71Y(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGCCTTCAGGTATCGGTACC	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																															uc002mgx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(220-222)TAC>TAT	Direct_reversal_of_damage|NER	XPA binding protein 2							113.0	99.0	103.0					19																	7692716		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7692716G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.222C>T	19.37:g.7692716G>A						uc010dvi.1_5'Flank	p.Y74Y	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			3	248	-			74			HAT 2.		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.222C>T	CCDS32892.1																																																																																				0.552	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		7	47	0	0	0	0.00308	0	7	47				
ARRDC2	27106	broad.mit.edu	37	19	18120660	18120660	+	Missense_Mutation	SNP	G	G	A	rs147746417		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:18120660G>A	ENST00000222250.4	+	5	804	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	ARRDC2_ENST00000379656.3_Missense_Mutation_p.V216M	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	221					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.V221M(1)|p.V216M(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TCGGGCAGCCGTGGTGCAGAC	0.682																																							uc002nhv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(661-663)GTG>ATG		arrestin domain containing 2 isoform 1		G	MET/VAL,MET/VAL	2,4398		0,2,2198	53.0	57.0	55.0		646,661	1.0	0.8	19	dbSNP_134	55	7,8591		0,7,4292	yes	missense,missense	ARRDC2	NM_001025604.1,NM_015683.1	21,21	0,9,6490	AA,AG,GG		0.0814,0.0455,0.0692	possibly-damaging,possibly-damaging	216/403,221/408	18120660	9,12989	2200	4299	6499	SO:0001583	missense	27106							g.chr19:18120660G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.661G>A	19.37:g.18120660G>A	ENSP00000222250:p.Val221Met					ARRDC2_uc002nhu.2_Missense_Mutation_p.V216M	p.V221M	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			5	804	+			221					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.661G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277588	0.59758	4.55E-4	8.14E-4	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.08720	3.06;3.06	4.57	0.982	0.19762	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.258931	0.35838	N	0.002947	T	0.05547	0.0146	N	0.11560	0.145	0.36300	D	0.856953	D;D	0.64830	0.985;0.994	P;P	0.49421	0.564;0.61	T	0.41520	-0.9504	10	0.87932	D	0	-19.8595	4.9291	0.13909	0.2108:0.5417:0.2475:0.0	.	221;216	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	M	216;221	ENSP00000368977:V216M;ENSP00000222250:V221M	ENSP00000222250:V221M	V	+	1	0	ARRDC2	17981660	0.914000	0.31030	0.785000	0.31869	0.546000	0.35178	1.757000	0.38400	1.058000	0.40530	0.491000	0.48974	GTG		0.682	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		3	33	0	0	0	0.014758	0	3	33				
ZNF724P	440519	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	T	C	rs10412126	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:23405580T>C	ENST00000418100.1	-	4	1584	c.1467A>G	c.(1465-1467)ctA>ctG	p.L489L				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGTGAGGATAGGTTAAAAG	0.383													N|||	2536	0.50639	0.1982	0.6398	5008	,	,		20851	0.6627		0.6014	False		,,,				2504	0.5695						uc010xri.1		NA																	0					NA						c.(1465-1467)CTA>CTG		SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43;																																				SO:0001819	synonymous_variant	0							g.chr19:23405580T>C			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1467A>G	19.37:g.23405580T>C							p.L489L							4	1585	-									Silent	SNP	ENST00000418100.1	37	c.1467A>G																																																																																					0.383	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			3	62	0	0	0	0.009096	0	3	62				
TSHZ3	57616	broad.mit.edu	37	19	31767488	31767488	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:31767488G>T	ENST00000240587.4	-	2	3538	c.3211C>A	c.(3211-3213)Cac>Aac	p.H1071N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1071					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H888N(1)|p.H1071N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TACAGAAGGTGGTCTTCCGGA	0.473																																							uc002nsy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(3211-3213)CAC>AAC		zinc finger protein 537							147.0	143.0	144.0					19																	31767488		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767488G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3211C>A	19.37:g.31767488G>T	ENSP00000240587:p.His1071Asn						p.H1071N	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	3276	-	Esophageal squamous(110;0.226)		1071					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.3211C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327477	0.60743	.	.	ENSG00000121297	ENST00000240587	T	0.25912	1.77	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	M	0.70275	2.135	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.52026	-0.8630	10	0.87932	D	0	-19.3214	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1071	Q63HK5	TSH3_HUMAN	N	1071	ENSP00000240587:H1071N	ENSP00000240587:H1071N	H	-	1	0	TSHZ3	36459328	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CAC		0.473	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		17	127	1	0	8.34094e-07	0.008871	8.89121e-07	17	127				
KIAA0355	9710	broad.mit.edu	37	19	34833289	34833289	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:34833289C>G	ENST00000299505.6	+	10	3323	c.2450C>G	c.(2449-2451)aCc>aGc	p.T817S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	817								p.T817S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGAAATAACACCTGGCCCAAC	0.522																																							uc002nvd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2449-2451)ACC>AGC		hypothetical protein LOC9710							160.0	168.0	165.0					19																	34833289		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34833289C>G		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2450C>G	19.37:g.34833289C>G	ENSP00000299505:p.Thr817Ser						p.T817S	NM_014686	NP_055501	O15063	K0355_HUMAN			10	3309	+	Esophageal squamous(110;0.162)		817					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2450C>G	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335205	0.81801	.	.	ENSG00000166398	ENST00000299505	T	0.31769	1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.73380	0.98	T	0.42447	-0.9451	10	0.87932	D	0	-24.8877	18.9755	0.92735	0.0:1.0:0.0:0.0	.	817	O15063	K0355_HUMAN	S	817	ENSP00000299505:T817S	ENSP00000299505:T817S	T	+	2	0	KIAA0355	39525129	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.273000	0.78527	2.732000	0.93576	0.655000	0.94253	ACC		0.522	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		6	303	0	0	0	0.004482	0	6	303				
ZNF568	374900	broad.mit.edu	37	19	37441464	37441464	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:37441464G>C	ENST00000333987.7	+	7	1915	c.1409G>C	c.(1408-1410)gGa>gCa	p.G470A	ZNF568_ENST00000415168.1_Missense_Mutation_p.G406A|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G470A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACACTGGAGAGAAACCT	0.398																																							uc002ofc.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1408-1410)GGA>GCA		zinc finger protein 568							52.0	58.0	56.0					19																	37441464		2203	4300	6503	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441464G>C	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1409G>C	19.37:g.37441464G>C	ENSP00000334685:p.Gly470Ala					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.G394A|ZNF568_uc010efe.2_Missense_Mutation_p.G394A|ZNF568_uc010eff.1_Intron	p.G470A	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1924	+	Esophageal squamous(110;0.183)		470					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1409G>C	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844530	0.51164	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.26373	1.74;1.74	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.249770	0.21063	N	0.080781	T	0.37128	0.0992	L	0.46819	1.47	0.80722	D	1	D	0.54207	0.965	P	0.55785	0.784	T	0.23154	-1.0196	10	0.87932	D	0	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	470	Q3ZCX4	ZN568_HUMAN	A	470;406	ENSP00000334685:G470A;ENSP00000394514:G406A	ENSP00000334685:G470A	G	+	2	0	ZNF568	42133304	0.689000	0.27690	1.000000	0.80357	0.792000	0.44763	2.166000	0.42406	2.204000	0.70986	0.467000	0.42956	GGA		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		14	67	0	0	0	0.00499	0	14	67				
ZNF571	51276	broad.mit.edu	37	19	38055625	38055625	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:38055625G>A	ENST00000328550.2	-	4	1804	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R569C|ZNF571_ENST00000358744.3_Missense_Mutation_p.R569C|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R569C			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R569C(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGCCACGACTAAAGGCC	0.443																																							uc002ogt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1705-1707)CGT>TGT		zinc finger protein 571							102.0	95.0	97.0					19																	38055625		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055625G>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1705C>T	19.37:g.38055625G>A	ENSP00000333660:p.Arg569Cys					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.R569C	p.R569C	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1806	-			569			C2H2-type 16.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1705C>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386503	0.25031	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.08102	3.13;3.13;3.13	3.78	-4.24	0.03777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	L	0.52759	1.655	0.09310	N	1	B	0.33379	0.41	B	0.26416	0.069	T	0.37009	-0.9724	9	0.31617	T	0.26	.	1.0127	0.01501	0.1904:0.1407:0.2406:0.4283	.	569	Q7Z3V5	ZN571_HUMAN	C	569	ENSP00000333660:R569C;ENSP00000392638:R569C;ENSP00000351594:R569C	ENSP00000333660:R569C	R	-	1	0	ZNF571	42747465	0.000000	0.05858	0.000000	0.03702	0.952000	0.60782	-3.711000	0.00386	-0.398000	0.07679	0.460000	0.39030	CGT		0.443	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		58	268	0	0	0	0.01441	0	58	268				
HIPK4	147746	broad.mit.edu	37	19	40886395	40886395	+	Missense_Mutation	SNP	G	G	T	rs564074926	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:40886395G>T	ENST00000291823.2	-	3	1787	c.1503C>A	c.(1501-1503)ttC>ttA	p.F501L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	501					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F501L(1)|p.F426L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGGTTGCTGAAGTTGGAGT	0.667																																							uc002onp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|stomach(1)	2						c.(1501-1503)TTC>TTA		homeodomain interacting protein kinase 4							80.0	84.0	83.0					19																	40886395		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886395G>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1503C>A	19.37:g.40886395G>T	ENSP00000291823:p.Phe501Leu						p.F501L	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1788	-			501					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1503C>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479247	0.44044	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.73152	-0.72	4.86	2.69	0.31865	.	0.000000	0.53938	D	0.000045	T	0.54983	0.1892	L	0.29908	0.895	0.32252	N	0.571353	B	0.22080	0.064	B	0.22753	0.041	T	0.60352	-0.7280	10	0.56958	D	0.05	.	7.3837	0.26870	0.2718:0.0:0.7282:0.0	.	501	Q8NE63	HIPK4_HUMAN	L	501;466	ENSP00000291823:F501L	ENSP00000291823:F501L	F	-	3	2	HIPK4	45578235	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	1.517000	0.35867	1.175000	0.42826	-0.379000	0.06801	TTC		0.667	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		25	212	1	0	2.41591e-17	0.004656	2.86365e-17	25	212				
CCDC97	90324	broad.mit.edu	37	19	41828552	41828552	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:41828552G>A	ENST00000269967.3	+	5	1086	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	322								p.E322K(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GGCACGGGATGAGGAGGAGAG	0.627																																							uc002oqg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(964-966)GAG>AAG		coiled-coil domain containing 97							151.0	121.0	131.0					19																	41828552		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41828552G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.964G>A	19.37:g.41828552G>A	ENSP00000269967:p.Glu322Lys					CYP2F1_uc010xvw.1_Intron	p.E322K	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			5	1086	+			322					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.964G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.833810	0.71258	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.35	4.35	0.52113	.	0.076312	0.50627	U	0.000117	T	0.72819	0.3508	M	0.78637	2.42	0.49483	D	0.999791	P	0.48089	0.905	P	0.51999	0.687	T	0.76825	-0.2816	9	0.49607	T	0.09	-8.7854	15.653	0.77112	0.0:0.0:1.0:0.0	.	322	Q96F63	CCD97_HUMAN	K	322	.	ENSP00000269967:E322K	E	+	1	0	CCDC97	46520392	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.971000	0.70440	1.981000	0.57761	0.298000	0.19748	GAG		0.627	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		63	442	0	0	0	0.01441	0	63	442				
CCDC97	90324	broad.mit.edu	37	19	41828555	41828555	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:41828555G>A	ENST00000269967.3	+	5	1089	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	323								p.E323K(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACGGGATGAGGAGGAGAGGTA	0.632																																							uc002oqg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(967-969)GAG>AAG		coiled-coil domain containing 97							150.0	120.0	130.0					19																	41828555		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41828555G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.967G>A	19.37:g.41828555G>A	ENSP00000269967:p.Glu323Lys					CYP2F1_uc010xvw.1_Intron	p.E323K	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			5	1089	+			323					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.967G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	g	19.76	3.886719	0.72410	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000002	D	0.83580	0.5285	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87212	0.2248	9	0.72032	D	0.01	2.8851	15.653	0.77112	0.0:0.0:1.0:0.0	.	323	Q96F63	CCD97_HUMAN	K	323	.	ENSP00000269967:E323K	E	+	1	0	CCDC97	46520395	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.809000	0.86057	1.981000	0.57761	0.298000	0.19748	GAG		0.632	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		62	434	0	0	0	0.01441	0	62	434				
PRR19	284338	broad.mit.edu	37	19	42813884	42813884	+	Missense_Mutation	SNP	C	C	T	rs201517615		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:42813884C>T	ENST00000499536.2	+	1	959	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PRR19_ENST00000598490.1_Missense_Mutation_p.R50W|PRR19_ENST00000341747.3_Missense_Mutation_p.R50W			A6NJB7	PRR19_HUMAN	proline rich 19	50								p.R50W(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGTGGCCATTCGGGATCCACC	0.637																																							uc002oti.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CGG>TGG		proline rich 19							60.0	68.0	65.0					19																	42813884		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42813884C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.148C>T	19.37:g.42813884C>T	ENSP00000445247:p.Arg50Trp					PRR19_uc002oth.1_Missense_Mutation_p.R50W|PRR19_uc002otj.2_Missense_Mutation_p.R50W	p.R50W	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN			2	526	+		Prostate(69;0.00682)	50					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.148C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215581	0.39102	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.42	4.42	0.53409	.	0.707775	0.11398	N	0.568121	T	0.33673	0.0871	L	0.27053	0.805	0.09310	N	1	D;D	0.59767	0.986;0.986	P;P	0.47102	0.537;0.537	T	0.17745	-1.0359	9	0.87932	D	0	-7.0902	12.7234	0.57154	0.0:1.0:0.0:0.0	.	50;50	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	W	50	.	ENSP00000342709:R50W	R	+	1	2	PRR19	47505724	0.001000	0.12720	0.475000	0.27278	0.118000	0.20060	0.291000	0.18994	2.449000	0.82847	0.650000	0.86243	CGG		0.637	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		6	28	0	0	0	0.004482	0	6	28				
ZNF225	7768	broad.mit.edu	37	19	44622435	44622435	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:44622435T>A	ENST00000262894.6	+	3	390	c.110T>A	c.(109-111)aTg>aAg	p.M37K	ZNF225_ENST00000590612.1_Missense_Mutation_p.M37K|ZNF225_ENST00000592780.1_Missense_Mutation_p.M37K	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M37K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGAGAAGTGATGCTGGAGAAC	0.537																																							uc002oyj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(109-111)ATG>AAG		zinc finger protein 225							224.0	203.0	211.0					19																	44622435		2203	4300	6503	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44622435T>A	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.110T>A	19.37:g.44622435T>A	ENSP00000262894:p.Met37Lys					ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Missense_Mutation_p.M37K	p.M37K	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			3	353	+		Prostate(69;0.0352)|all_neural(266;0.202)	37			KRAB.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.110T>A	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290435	0.59976	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.03358	3.96	2.5	2.5	0.30297	Krueppel-associated box (4);	.	.	.	.	T	0.29389	0.0732	H	0.98769	4.325	0.27208	N	0.959997	D	0.65815	0.995	D	0.77557	0.99	T	0.22452	-1.0216	9	0.87932	D	0	.	8.4516	0.32873	0.0:0.0:0.0:1.0	.	37	Q9UK10	ZN225_HUMAN	K	37;1	ENSP00000262894:M37K	ENSP00000262894:M37K	M	+	2	0	ZNF225	49314275	1.000000	0.71417	0.912000	0.35992	0.940000	0.58332	4.112000	0.57845	1.125000	0.41998	0.374000	0.22700	ATG		0.537	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			128	766	0	0	0	0.01441	0	128	766				
ZNF112	7771	broad.mit.edu	37	19	44831777	44831777	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:44831777G>A	ENST00000337401.4	-	5	2639	c.2551C>T	c.(2551-2553)Cac>Tac	p.H851Y	ZNF112_ENST00000354340.4_Missense_Mutation_p.H845Y|ZNF112_ENST00000536500.1_Missense_Mutation_p.H868Y	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	851					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H851Y(1)|p.H845Y(1)									ACTCTCTGGTGAGCCTGAAGA	0.458																																						Melanoma(53;975 1202 7512 15993 27273)	uc010ejj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(2551-2553)CAC>TAC		zinc finger protein 228 isoform 1							142.0	136.0	138.0					19																	44831777		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44831777G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2551C>T	19.37:g.44831777G>A	ENSP00000337081:p.His851Tyr					ZFP112_uc002ozc.3_Missense_Mutation_p.H845Y|ZFP112_uc010xwy.1_Missense_Mutation_p.H868Y|ZFP112_uc010xwz.1_Missense_Mutation_p.H850Y	p.H851Y	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2664	-			851			C2H2-type 16.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2551C>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090533	0.76756	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	D;D;D	0.86769	-2.17;-2.17;-2.17	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003554	D	0.95931	0.8675	H	0.96576	3.845	0.49130	D	0.999756	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97363	0.9971	10	0.87932	D	0	-25.2916	17.5732	0.87941	0.0:0.0:1.0:0.0	.	850;868;851	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Y	851;851;845;868;850	ENSP00000337081:H851Y;ENSP00000346305:H845Y;ENSP00000441990:H868Y	ENSP00000253426:H850Y	H	-	1	0	ZNF285	49523617	1.000000	0.71417	0.948000	0.38648	0.928000	0.56348	7.235000	0.78143	2.521000	0.84997	0.563000	0.77884	CAC		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		42	375	0	0	0	0.01441	0	42	375				
EML2	24139	broad.mit.edu	37	19	46133262	46133262	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:46133262G>A	ENST00000245925.3	-	7	603	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Missense_Mutation_p.H386Y|EML2_ENST00000589876.1_Missense_Mutation_p.H185Y|EML2_ENST00000536630.1_Missense_Mutation_p.H332Y	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	185	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.H185Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAGAGCATGTGATCATTGGAT	0.582																																							uc002pcn.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(553-555)CAC>TAC		echinoderm microtubule associated protein like							187.0	120.0	143.0					19																	46133262		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46133262G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.553C>T	19.37:g.46133262G>A	ENSP00000245925:p.His185Tyr					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.H69Y|EML2_uc010xxl.1_Missense_Mutation_p.H332Y|EML2_uc010xxm.1_Missense_Mutation_p.H386Y|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.H185Y|EML2_uc010ekj.2_Missense_Mutation_p.H185Y|EML2_uc010ekk.1_RNA	p.H185Y	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	7	588	-		Ovarian(192;0.179)|all_neural(266;0.224)	185			WD 2.		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.553C>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570168	0.65765	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.39997	1.05;1.05;5.02	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.71871	2.18	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.986;0.993;0.999	T	0.66148	-0.5996	10	0.59425	D	0.04	-27.8914	15.2691	0.73686	0.0:0.0:1.0:0.0	.	185;351;332;343;185	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	Y	332;185;386;343	ENSP00000442365:H332Y;ENSP00000245925:H185Y;ENSP00000382503:H343Y	ENSP00000245925:H185Y	H	-	1	0	EML2	50825102	1.000000	0.71417	0.957000	0.39632	0.718000	0.41266	7.212000	0.77941	2.491000	0.84063	0.305000	0.20034	CAC		0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		15	80	0	0	0	0.004007	0	15	80				
SIGLEC9	27180	broad.mit.edu	37	19	51633160	51633160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:51633160G>T	ENST00000250360.3	+	7	1283	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	406					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.E406*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCCCCTGACTGAACCTTGGGC	0.607																																							uc002pvu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1216-1218)GAA>TAA		sialic acid binding Ig-like lectin 9 precursor							72.0	77.0	76.0					19																	51633160		2203	4300	6503	SO:0001587	stop_gained	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633160G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1216G>T	19.37:g.51633160G>T	ENSP00000250360:p.Glu406*					SIGLEC9_uc010yct.1_Intron	p.E406*	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1283	+		all_neural(266;0.0529)	406			Cytoplasmic (Potential).		Q6GTU4|Q9BYI9	Nonsense_Mutation	SNP	ENST00000250360.3	37	c.1216G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755567	0.49362	.	.	ENSG00000129450	ENST00000250360	.	.	.	1.96	0.901	0.19284	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.382	0.11299	0.2051:0.0:0.7949:0.0	.	.	.	.	X	406	.	ENSP00000250360:E406X	E	+	1	0	SIGLEC9	56324972	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.594000	0.05733	0.397000	0.25310	0.514000	0.50259	GAA		0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		24	100	1	0	8.88839e-20	0.010818	1.06591e-19	24	100				
ZNF525	170958	broad.mit.edu	37	19	53884192	53884192	+	5'Flank	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:53884192G>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000467003.1_Missense_Mutation_p.M84I|ZNF525_ENST00000474037.1_Missense_Mutation_p.M120I|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000600148.1_3'UTR			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M120I(1)		endometrium(3)|kidney(3)|lung(3)	9						AAAAATTGATGGGTAGTACAG	0.373																																							uc010eqn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)ATG>ATT		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884192G>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884192G>T	Exception_encountered					ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	p.M84I	NR_003699						4	445	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.252G>T		.	.	.	.	.	.	.	.	.	.	G	1.394	-0.580010	0.03854	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.06849	3.34;3.25	0.785	-1.57	0.08506	.	.	.	.	.	T	0.06554	0.0168	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35649	-0.9780	6	0.40728	T	0.16	.	3.1096	0.06353	0.3137:0.0:0.4838:0.2025	.	.	.	.	I	120;84	ENSP00000417696:M120I;ENSP00000419136:M84I	ENSP00000419136:M84I	M	+	3	0	ZNF525	58576004	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.050000	0.03510	-1.168000	0.02776	-2.305000	0.00258	ATG		0.373	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		19	138	1	0	8.34094e-07	0.008871	8.89121e-07	19	138				
NLRP2	55655	broad.mit.edu	37	19	55481465	55481465	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:55481465T>A	ENST00000543010.1	+	2	225	c.82T>A	c.(82-84)Tat>Aat	p.Y28N	NLRP2_ENST00000263437.6_Missense_Mutation_p.Y28N|NLRP2_ENST00000448584.2_Missense_Mutation_p.Y28N|NLRP2_ENST00000391721.4_Missense_Mutation_p.Y28N|NLRP2_ENST00000427260.2_Missense_Mutation_p.Y28N|NLRP2_ENST00000339757.7_Missense_Mutation_p.Y28N|NLRP2_ENST00000538819.1_Missense_Mutation_p.Y28N|NLRP2_ENST00000537859.1_Missense_Mutation_p.Y28N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	28	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.Y28N(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAAGTTCAAGTATCTGATCAC	0.557																																							uc002qij.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(82-84)TAT>AAT		NLR family, pyrin domain containing 2							108.0	94.0	98.0					19																	55481465		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55481465T>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.82T>A	19.37:g.55481465T>A	ENSP00000445135:p.Tyr28Asn					NLRP2_uc010yfp.1_Missense_Mutation_p.Y28N|NLRP2_uc010esn.2_Missense_Mutation_p.Y28N|NLRP2_uc010eso.2_Missense_Mutation_p.Y28N|NLRP2_uc010esp.2_Missense_Mutation_p.Y28N	p.Y28N	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	2	168	+			28			DAPIN.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.82T>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	T	2.737	-0.263082	0.05754	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T;T	0.57752	0.88;0.88;0.88;0.88;0.88;0.88;0.38;0.88;0.88	1.88	-2.31	0.06765	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.21881	0.0527	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.10450	0.001;0.002;0.005;0.003;0.005	T	0.12760	-1.0535	9	0.26408	T	0.33	.	2.8164	0.05457	0.4371:0.0:0.2258:0.3371	.	28;28;28;28;28	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	N	28	ENSP00000443519:Y28N;ENSP00000445135:Y28N;ENSP00000375601:Y28N;ENSP00000344074:Y28N;ENSP00000409370:Y28N;ENSP00000440601:Y28N;ENSP00000402474:Y28N;ENSP00000441133:Y28N;ENSP00000263437:Y28N	ENSP00000263437:Y28N	Y	+	1	0	NLRP2	60173277	0.078000	0.21339	0.009000	0.14445	0.021000	0.10359	-0.150000	0.10189	-0.710000	0.05001	0.397000	0.26171	TAT		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		14	126	0	0	0	0.003163	0	14	126				
NLRP8	126205	broad.mit.edu	37	19	56467063	56467063	+	Missense_Mutation	SNP	G	G	C	rs199980675		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:56467063G>C	ENST00000291971.3	+	3	1710	c.1639G>C	c.(1639-1641)Gga>Cga	p.G547R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G547R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	547					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G547R(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTCCCAGAGGAAGCAAAAG	0.468																																							uc002qmh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1639-1641)GGA>CGA		NLR family, pyrin domain containing 8							88.0	85.0	86.0					19																	56467063		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467063G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1639G>C	19.37:g.56467063G>C	ENSP00000291971:p.Gly547Arg					NLRP8_uc010etg.2_Missense_Mutation_p.G547R	p.G547R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1710	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	547					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1639G>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.932	-0.220881	0.06061	.	.	ENSG00000179709	ENST00000291971	D	0.84070	-1.8	2.04	-2.03	0.07365	.	.	.	.	.	T	0.54415	0.1857	N	0.02247	-0.625	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.002	T	0.42015	-0.9476	9	0.23302	T	0.38	.	2.8736	0.05624	0.3645:0.2476:0.3879:0.0	.	547;547	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	547	ENSP00000291971:G547R	ENSP00000291971:G547R	G	+	1	0	NLRP8	61158875	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.109000	0.10840	-0.458000	0.07023	0.514000	0.50259	GGA		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		20	119	0	0	0	0.010504	0	20	119				
ZNF444	55311	broad.mit.edu	37	19	56669884	56669884	+	Missense_Mutation	SNP	G	G	A	rs61736532	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:56669884G>A	ENST00000337080.3	+	4	686	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.G107R	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	107					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G107R(2)		NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CTCCCCCGATGGGTCGTCAGC	0.597													G|||	17	0.00339457	0.0	0.0043	5008	,	,		17154	0.0		0.007	False		,,,				2504	0.0072						uc002qmm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(319-321)GGG>AGG		zinc finger protein 444		G	ARG/GLY	10,4396	16.8+/-37.8	0,10,2193	70.0	62.0	65.0		319	-1.3	0.0	19	dbSNP_129	65	77,8523	44.9+/-103.4	0,77,4223	yes	missense	ZNF444	NM_018337.2	125	0,87,6416	AA,AG,GG		0.8953,0.227,0.6689	benign	107/328	56669884	87,12919	2203	4300	6503	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56669884G>A	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.319G>A	19.37:g.56669884G>A	ENSP00000338860:p.Gly107Arg					ZNF444_uc002qmn.1_Missense_Mutation_p.G107R	p.G107R	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	4	686	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	107					Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.319G>A	CCDS12939.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	1.598	-0.527314	0.04141	0.00227	0.008953	ENSG00000167685	ENST00000337080	T	0.04194	3.68	2.69	-1.29	0.09288	Transcription regulator SCAN (1);	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48811	-0.9002	9	0.16896	T	0.51	.	5.0514	0.14511	0.0:0.4134:0.4452:0.1414	rs61736532	107;107	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	R	107	ENSP00000338860:G107R	ENSP00000338860:G107R	G	+	1	0	ZNF444	61361696	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.496000	0.06436	-0.313000	0.08728	-0.357000	0.07601	GGG		0.597	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		4	89	0	0	0	0.001168	0	4	89				
PEG3	5178	broad.mit.edu	37	19	57327147	57327147	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:57327147T>A	ENST00000326441.9	-	10	3026	c.2663A>T	c.(2662-2664)aAt>aTt	p.N888I	PEG3_ENST00000423103.2_Missense_Mutation_p.N888I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N764I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N762I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	888					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N888I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAGTTGCGATTCTTACTGCC	0.448																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2662-2664)AAT>ATT		paternally expressed 3 isoform 1							96.0	96.0	96.0					19																	57327147		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327147T>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2663A>T	19.37:g.57327147T>A	ENSP00000326581:p.Asn888Ile					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N859I|PEG3_uc002qnv.2_Missense_Mutation_p.N888I|PEG3_uc002qnw.2_Missense_Mutation_p.N764I|PEG3_uc002qnx.2_Missense_Mutation_p.N762I|PEG3_uc010etr.2_Missense_Mutation_p.N888I	p.N888I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3014	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	888					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2663A>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323653	0.24080	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	3.9	-4.3	0.03710	.	0.395933	0.21867	N	0.067943	T	0.02418	0.0074	L	0.40543	1.245	.	.	.	B;B;B	0.24823	0.003;0.068;0.112	B;B;B	0.20184	0.002;0.013;0.028	T	0.16247	-1.0409	9	0.72032	D	0.01	-1.2261	8.3005	0.32012	0.0:0.5916:0.1584:0.25	.	764;888;823	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	888	ENSP00000326581:N888I;ENSP00000403051:N888I	ENSP00000326581:N888I	N	-	2	0	ZIM2	62018959	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.690000	0.05138	-1.066000	0.03164	-0.376000	0.06991	AAT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			30	179	0	0	0	0.009535	0	30	179				
ZIM3	114026	broad.mit.edu	37	19	57646337	57646337	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:57646337G>A	ENST00000269834.1	-	5	1753	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F456F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTGTCAGCGAAGGCTTTAC	0.403																																							uc002qnz.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1366-1368)TTC>TTT		zinc finger, imprinted 3							136.0	135.0	135.0					19																	57646337		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646337G>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1368C>T	19.37:g.57646337G>A							p.F456F	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1754	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	456			C2H2-type 11.		Q14CA6	Silent	SNP	ENST00000269834.1	37	c.1368C>T	CCDS33125.1																																																																																				0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			7	274	0	0	0	0.008291	0	7	274				
RAD51AP2	729475	broad.mit.edu	37	2	17699059	17699059	+	Silent	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:17699059A>T	ENST00000399080.2	-	1	647	c.624T>A	c.(622-624)atT>atA	p.I208I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	208								p.I208I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTGTTCTTAATTTCATGAA	0.308																																							uc002rcl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(622-624)ATT>ATA		RAD51 associated protein 2							71.0	69.0	70.0					2																	17699059		1844	4102	5946	SO:0001819	synonymous_variant	729475							g.chr2:17699059A>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.624T>A	2.37:g.17699059A>T						RAD51AP2_uc010exn.1_Silent_p.I199I	p.I208I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	648	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		208						Silent	SNP	ENST00000399080.2	37	c.624T>A	CCDS42656.1																																																																																				0.308	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		23	99	0	0	0	0.004656	0	23	99				
DRC1	92749	broad.mit.edu	37	2	26678013	26678013	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:26678013A>T	ENST00000288710.2	+	16	2152	c.2078A>T	c.(2077-2079)cAg>cTg	p.Q693L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	693					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.Q693L(1)									GTCCTGACCCAGAGGGCCAAG	0.562																																							uc002rhg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2077-2079)CAG>CTG		hypothetical protein LOC92749							95.0	109.0	104.0					2																	26678013		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26678013A>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.2078A>T	2.37:g.26678013A>T	ENSP00000288710:p.Gln693Leu						p.Q693L	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			16	2152	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		693			Potential.		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.2078A>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.840940	0.32513	.	.	ENSG00000157856	ENST00000288710	T	0.47528	0.84	5.38	2.89	0.33648	.	0.667620	0.15795	N	0.244224	T	0.36054	0.0953	L	0.46885	1.475	0.20975	N	0.999818	B	0.13145	0.007	B	0.14578	0.011	T	0.25537	-1.0129	10	0.44086	T	0.13	-15.9092	4.3717	0.11251	0.695:0.0:0.1592:0.1458	.	693	Q96MC2	CC164_HUMAN	L	693	ENSP00000288710:Q693L	ENSP00000288710:Q693L	Q	+	2	0	CCDC164	26531517	0.992000	0.36948	0.959000	0.39883	0.954000	0.61252	2.679000	0.46909	0.881000	0.35993	0.533000	0.62120	CAG		0.562	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		40	119	0	0	0	0.01441	0	40	119				
ALK	238	broad.mit.edu	37	2	29498008	29498008	+	Silent	SNP	G	G	T	rs549825750		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:29498008G>T	ENST00000389048.3	-	11	2904	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	666					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P666P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AATTTTCCCCGGGTTTCAGCT	0.463			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	2	Substitution - coding silent(2)	p.P666L(1)	lung(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1996-1998)CCC>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						104.0	105.0	105.0					2																	29498008		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29498008G>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1998C>A	2.37:g.29498008G>T							p.P666P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			11	2905	-	Acute lymphoblastic leukemia(172;0.155)		666			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1998C>A	CCDS33172.1																																																																																				0.463	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		23	45	1	0	2.27525e-19	0.021523	2.71791e-19	23	45				
TTC7A	57217	broad.mit.edu	37	2	47221537	47221537	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:47221537G>A	ENST00000319190.5	+	7	1253	c.885G>A	c.(883-885)ctG>ctA	p.L295L	TTC7A_ENST00000394850.2_Silent_p.L295L|TTC7A_ENST00000409245.1_Silent_p.L261L|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	295					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.L295L(1)		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)			TGCACTCCCTGAGTGAGGAGT	0.632																																							uc002rvo.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(883-885)CTG>CTA		tetratricopeptide repeat domain 7A							80.0	82.0	82.0					2																	47221537		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47221537G>A	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	ENST00000319190.5:c.885G>A	2.37:g.47221537G>A						TTC7A_uc002rvm.2_Silent_p.L261L|TTC7A_uc002rvn.1_Silent_p.L176L|TTC7A_uc010fbb.2_Silent_p.L295L|TTC7A_uc010fbc.2_Intron|TTC7A_uc002rvp.2_Silent_p.L176L|TTC7A_uc002rvq.2_Silent_p.L35L|TTC7A_uc002rvr.2_5'UTR	p.L295L	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1253	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	295					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.885G>A	CCDS33193.1																																																																																				0.632	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		6	239	0	0	0	0.00308	0	6	239				
DYSF	8291	broad.mit.edu	37	2	71839841	71839841	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:71839841G>T	ENST00000258104.3	+	39	4515	c.4238G>T	c.(4237-4239)cGc>cTc	p.R1413L	DYSF_ENST00000409366.1_Missense_Mutation_p.R1414L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1444L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1400L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1413L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1445L|DYSF_ENST00000409762.1_Missense_Mutation_p.R1430L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1431L|DYSF_ENST00000409582.3_Missense_Mutation_p.R1430L|DYSF_ENST00000394120.2_Missense_Mutation_p.R1414L|DYSF_ENST00000410041.1_Missense_Mutation_p.R1431L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1413	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.R1413L(1)|p.R1431L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTTTGGCCGCCGGCCTGTG	0.647																																							uc002sie.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4237-4239)CGC>CTC		dysferlin isoform 8							56.0	52.0	53.0					2																	71839841		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839841G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4238G>T	2.37:g.71839841G>T	ENSP00000258104:p.Arg1413Leu					DYSF_uc010feg.2_Missense_Mutation_p.R1444L|DYSF_uc010feh.2_Missense_Mutation_p.R1399L|DYSF_uc002sig.3_Missense_Mutation_p.R1399L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1413L|DYSF_uc010fef.2_Missense_Mutation_p.R1430L|DYSF_uc010fei.2_Missense_Mutation_p.R1430L|DYSF_uc010fek.2_Missense_Mutation_p.R1431L|DYSF_uc010fej.2_Missense_Mutation_p.R1400L|DYSF_uc010fel.2_Missense_Mutation_p.R1400L|DYSF_uc010feo.2_Missense_Mutation_p.R1445L|DYSF_uc010fem.2_Missense_Mutation_p.R1414L|DYSF_uc010fen.2_Missense_Mutation_p.R1431L|DYSF_uc002sif.2_Missense_Mutation_p.R1414L|DYSF_uc010yqy.1_Missense_Mutation_p.R294L|DYSF_uc010yqz.1_Missense_Mutation_p.R153L	p.R1413L	NM_003494	NP_003485	O75923	DYSF_HUMAN			39	4614	+			1413			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4238G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321652	0.95682	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.52	5.52	0.82312	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.92833	3.35	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;1.0;0.971;0.999;0.995;1.0;0.999;0.999;1.0	D	0.93159	0.6556	10	0.56958	D	0.05	-23.5585	16.9157	0.86150	0.0:0.0:1.0:0.0	.	156;1445;1431;1414;1400;1431;1400;1430;1399;1444;1430;1413;1399;1414;1413	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1444;1430;1430;1413;1413;1445;1414;1400;1414;1431;1431	ENSP00000407046:R1444L;ENSP00000387137:R1430L;ENSP00000386547:R1430L;ENSP00000398305:R1413L;ENSP00000258104:R1413L;ENSP00000386683:R1445L;ENSP00000377678:R1414L;ENSP00000386285:R1400L;ENSP00000386512:R1414L;ENSP00000386881:R1431L;ENSP00000386617:R1431L	ENSP00000258104:R1413L	R	+	2	0	DYSF	71693349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.835000	0.86780	2.610000	0.88304	0.561000	0.74099	CGC		0.647	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		16	19	1	0	5.45727e-16	0.008361	6.41909e-16	16	19				
LRRTM4	80059	broad.mit.edu	37	2	77745477	77745477	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:77745477G>A	ENST00000409093.1	-	3	1854	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	LRRTM4_ENST00000409911.1_Silent_p.C507C|LRRTM4_ENST00000409088.3_Silent_p.C506C|LRRTM4_ENST00000409884.1_Silent_p.C506C|LRRTM4_ENST00000409282.1_Silent_p.C507C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	506					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.C506C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTATATGTGCAGGGCCCAG	0.448																																							uc002snr.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1516-1518)TGC>TGT		leucine rich repeat transmembrane neuronal 4							77.0	77.0	77.0					2																	77745477		1889	4123	6012	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745477G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1518C>T	2.37:g.77745477G>A						LRRTM4_uc002snq.2_Silent_p.C506C|LRRTM4_uc002sns.2_Silent_p.C506C|LRRTM4_uc002snt.2_Silent_p.C507C	p.C506C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1933	-			506			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1518C>T	CCDS46346.1																																																																																				0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		9	49	0	0	0	0.016723	0	9	49				
GPR148	344561	broad.mit.edu	37	2	131486979	131486979	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:131486979C>A	ENST00000309926.4	+	1	337	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H85Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGGAGCCCCACTACCTGCTCC	0.632																																							uc002trv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(253-255)CAC>CAA		G protein-coupled receptor 148							72.0	76.0	75.0					2																	131486979		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486979C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.255C>A	2.37:g.131486979C>A	ENSP00000308908:p.His85Gln						p.H85Q	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	257	+	Colorectal(110;0.1)		85			Cytoplasmic (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.255C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887969	0.33348	.	.	ENSG00000173302	ENST00000309926	T	0.36878	1.23	2.98	0.928	0.19443	GPCR, rhodopsin-like superfamily (1);	0.210963	0.29225	N	0.012777	T	0.17746	0.0426	N	0.08118	0	0.23585	N	0.997351	P	0.47191	0.891	B	0.43018	0.405	T	0.12553	-1.0543	10	0.72032	D	0.01	-2.8657	5.6945	0.17847	0.3861:0.4243:0.1895:0.0	.	85	Q8TDV2	GP148_HUMAN	Q	85	ENSP00000308908:H85Q	ENSP00000308908:H85Q	H	+	3	2	GPR148	131203449	0.997000	0.39634	0.913000	0.36048	0.736000	0.42039	0.200000	0.17257	0.048000	0.15891	0.462000	0.41574	CAC		0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		8	80	1	0	5.4927e-09	0.004482	5.97965e-09	8	80				
LRP1B	53353	broad.mit.edu	37	2	141299477	141299477	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:141299477A>G	ENST00000389484.3	-	44	8229	c.7258T>C	c.(7258-7260)Tgg>Cgg	p.W2420R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2420					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W2420R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCGACCAGAATATATAA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7258-7260)TGG>CGG		low density lipoprotein-related protein 1B							93.0	88.0	89.0					2																	141299477		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299477A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7258T>C	2.37:g.141299477A>G	ENSP00000374135:p.Trp2420Arg	TSP Lung(27;0.18)					p.W2420R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8230	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2420			Extracellular (Potential).|LDL-receptor class B 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7258T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556238	0.86231	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91631	-2.88	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.97483	0.9176	H	0.96970	3.915	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.98880	1.0769	10	0.87932	D	0	.	15.523	0.75877	1.0:0.0:0.0:0.0	.	2420	Q9NZR2	LRP1B_HUMAN	R	2420;2358	ENSP00000374135:W2420R	ENSP00000374135:W2420R	W	-	1	0	LRP1B	141015947	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.282000	0.95840	2.063000	0.61619	0.402000	0.26972	TGG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		47	78	0	0	0	0.01441	0	47	78				
TBR1	10716	broad.mit.edu	37	2	162273111	162273111	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:162273111G>C	ENST00000389554.3	+	1	507	c.190G>C	c.(190-192)Gat>Cat	p.D64H	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	64					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D64H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAATCAGTCAGATACAGACAA	0.483																																							uc002ubw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(190-192)GAT>CAT		T-box, brain, 1							78.0	85.0	82.0					2																	162273111		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273111G>C	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.190G>C	2.37:g.162273111G>C	ENSP00000374205:p.Asp64His					TBR1_uc010foy.2_5'Flank	p.D64H	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	492	+			64					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.190G>C	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147061	0.37923	.	.	ENSG00000136535	ENST00000389554	D	0.88664	-2.41	5.15	5.15	0.70609	.	0.064020	0.64402	D	0.000008	D	0.84808	0.5554	N	0.19112	0.55	0.80722	D	1	P	0.37864	0.61	B	0.41988	0.372	D	0.86833	0.2012	10	0.87932	D	0	.	17.349	0.87317	0.0:0.0:1.0:0.0	.	64	Q16650	TBR1_HUMAN	H	64	ENSP00000374205:D64H	ENSP00000374205:D64H	D	+	1	0	TBR1	161981357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.350000	0.97070	2.688000	0.91661	0.655000	0.94253	GAT		0.483	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		9	124	0	0	0	0.004482	0	9	124				
PDE11A	50940	broad.mit.edu	37	2	178762821	178762821	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:178762821G>A	ENST00000286063.6	-	4	1583	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	PDE11A_ENST00000409504.1_Silent_p.R64R|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.R172R|PDE11A_ENST00000449286.2_Silent_p.R64R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	422	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R422R(1)|p.R172R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	AAACAGAACAGCGTTCACATT	0.373									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1264-1266)CGC>CGT		phosphodiesterase 11A isoform 4							139.0	132.0	134.0					2																	178762821		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178762821G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1266C>T	2.37:g.178762821G>A						PDE11A_uc002ulr.2_Silent_p.R172R|PDE11A_uc002uls.1_Silent_p.R64R|PDE11A_uc002ult.1_Silent_p.R172R|PDE11A_uc002ulu.1_Silent_p.R64R	p.R422R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		4	1584	-			422			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1266C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371418	0.24771	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.89	3.95	0.45737	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52426	-0.8577	4	.	.	.	.	7.8932	0.29691	0.0694:0.1237:0.6923:0.1146	.	.	.	.	V	61	.	.	A	-	2	0	PDE11A	178471067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.405000	0.34635	2.783000	0.95769	0.655000	0.94253	GCT		0.373	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			20	197	0	0	0	0.01892	0	20	197				
DNAH7	56171	broad.mit.edu	37	2	196866436	196866436	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:196866436G>A	ENST00000312428.6	-	11	1236	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	DNAH7_ENST00000410072.1_Missense_Mutation_p.S379F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	379	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.S379F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTGCATGGAGACTAAAGT	0.378																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(1135-1137)TCC>TTC		dynein, axonemal, heavy chain 7							93.0	86.0	89.0					2																	196866436		1896	4115	6011	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196866436G>A	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.1136C>T	2.37:g.196866436G>A	ENSP00000311273:p.Ser379Phe						p.S379F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			11	1237	-			379			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1136C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479968	0.84747	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.28454	1.68;1.61	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67573	-0.5636	10	0.87932	D	0	.	19.3665	0.94464	0.0:0.0:1.0:0.0	.	379	Q8WXX0	DYH7_HUMAN	F	379	ENSP00000311273:S379F;ENSP00000386260:S379F	ENSP00000311273:S379F	S	-	2	0	DNAH7	196574681	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.594000	0.90836	2.666000	0.90696	0.655000	0.94253	TCC		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		57	189	0	0	0	0.01441	0	57	189				
CCDC150	284992	broad.mit.edu	37	2	197531457	197531457	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:197531457G>C	ENST00000389175.4	+	7	912	c.777G>C	c.(775-777)caG>caC	p.Q259H	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	259								p.Q259H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACATTTTGCAGCAAAACTGCA	0.378																																							uc002utp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CAG>CAC		coiled-coil domain containing 150							55.0	52.0	53.0					2																	197531457		1825	4068	5893	SO:0001583	missense	284992							g.chr2:197531457G>C		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.777G>C	2.37:g.197531457G>C	ENSP00000373827:p.Gln259His					CCDC150_uc002uto.1_Missense_Mutation_p.Q259H|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.Q259H	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			7	912	+			259			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.777G>C	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145528	0.37825	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30448	1.53	5.53	2.73	0.32206	.	0.000000	0.64402	D	0.000002	T	0.47210	0.1433	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.964;0.98	T	0.41680	-0.9495	10	0.59425	D	0.04	-10.6685	8.8113	0.34969	0.2437:0.0:0.7563:0.0	.	259;259	Q8NCX0;F5H6M2	CC150_HUMAN;.	H	259	ENSP00000373827:Q259H	ENSP00000373827:Q259H	Q	+	3	2	CCDC150	197239702	1.000000	0.71417	0.995000	0.50966	0.193000	0.23685	1.943000	0.40253	0.901000	0.36495	0.655000	0.94253	CAG		0.378	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	27	0	0	0	0.001168	0	4	27				
CPS1	1373	broad.mit.edu	37	2	211518752	211518752	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:211518752C>T	ENST00000233072.5	+	29	3680	c.3484C>T	c.(3484-3486)Cac>Tac	p.H1162Y	CPS1_ENST00000430249.2_Missense_Mutation_p.H1168Y|CPS1_ENST00000451903.2_Missense_Mutation_p.H711Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1162	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328). {ECO:0000305}.	anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.H1168Y(1)|p.H1162Y(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTGACAGGAGCACCCAGTGGT	0.433																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3484-3486)CAC>TAC		carbamoyl-phosphate synthetase 1 isoform b							103.0	104.0	103.0					2																	211518752		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211518752C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3484C>T	2.37:g.211518752C>T	ENSP00000233072:p.His1162Tyr					CPS1_uc010fur.2_Missense_Mutation_p.H1168Y|CPS1_uc010fus.2_Missense_Mutation_p.H711Y	p.H1162Y	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	29	3616	+			1162	EH -> AT (in Ref. 1; BAA14328).		ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3484C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506714	0.44558	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97378	-4.36;-4.36;-4.36	5.77	5.77	0.91146	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.67953	2.075	0.50313	D	0.999868	B;B	0.19817	0.039;0.039	B;B	0.25140	0.058;0.058	D	0.92881	0.6323	10	0.40728	T	0.16	-8.6161	15.449	0.75257	0.0:0.9317:0.0:0.0683	.	1172;1162	Q59HF8;P31327	.;CPSM_HUMAN	Y	1168;1170;1162;711	ENSP00000402608:H1168Y;ENSP00000233072:H1162Y;ENSP00000406136:H711Y	ENSP00000233072:H1162Y	H	+	1	0	CPS1	211226997	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.246000	0.51414	2.890000	0.99128	0.650000	0.86243	CAC		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			84	186	0	0	0	0.01441	0	84	186				
PRR21	643905	broad.mit.edu	37	2	240982137	240982137	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:240982137G>A	ENST00000408934.1	-	1	262	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	88	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGCATGGATGAAGGACTGTG	0.607																																							uc010zod.1		NA																	4	Substitution - Missense(2)|Deletion - Frameshift(2)		upper_aerodigestive_tract(2)|lung(2)	ovary(1)|skin(1)	2						c.(262-264)TCA>TTA		proline rich 21							160.0	152.0	154.0					2																	240982137		2077	4158	6235	SO:0001583	missense	643905							g.chr2:240982137G>A	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.263C>T	2.37:g.240982137G>A	ENSP00000386166:p.Ser88Leu						p.S88L	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	263	-			88			Pro-rich.			Missense_Mutation	SNP	ENST00000408934.1	37	c.263C>T	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	9.905	1.208025	0.22205	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.04406	3.63;3.63	1.2	1.2	0.21068	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.37601	0.254	T	0.45026	-0.9289	9	0.13470	T	0.59	.	8.2452	0.31684	0.0:0.0:1.0:0.0	.	88	Q8WXC7	PRR21_HUMAN	L	88	ENSP00000386166:S88L;ENSP00000418240:S88L	ENSP00000386166:S88L	S	-	2	0	PRR21	240630810	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.203000	0.17315	0.926000	0.37118	0.400000	0.26472	TCA		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		99	248	0	0	0	0.01441	0	99	248				
STK25	10494	broad.mit.edu	37	2	242438432	242438432	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr2:242438432T>A	ENST00000316586.4	-	7	1092	c.743A>T	c.(742-744)gAg>gTg	p.E248V	STK25_ENST00000543554.1_Missense_Mutation_p.E154V|STK25_ENST00000405883.3_Missense_Mutation_p.E171V|STK25_ENST00000403346.3_Missense_Mutation_p.E248V|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.E171V|STK25_ENST00000535007.1_Missense_Mutation_p.E154V|STK25_ENST00000401869.1_Missense_Mutation_p.E248V	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E248V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAGGCAGGCCTCCACGAACTC	0.637																																					NSCLC(99;1100 1566 7679 28647 48345)	NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GAG>GTG		serine/threonine kinase 25							57.0	64.0	62.0					2																	242438432		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438432T>A	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.743A>T	2.37:g.242438432T>A	ENSP00000325748:p.Glu248Val					STK25_uc002wbk.2_Missense_Mutation_p.E67V|STK25_uc002wbl.2_Missense_Mutation_p.E67V|STK25_uc002wbn.2_Missense_Mutation_p.E248V|STK25_uc002wbo.2_Missense_Mutation_p.E171V|STK25_uc010zos.1_Missense_Mutation_p.E154V|STK25_uc010zot.1_Missense_Mutation_p.E174V|STK25_uc002wbp.2_Missense_Mutation_p.E248V|STK25_uc010fzo.2_Missense_Mutation_p.E171V|STK25_uc010zou.1_Missense_Mutation_p.E154V|STK25_uc010zov.1_Missense_Mutation_p.E154V	p.E248V	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	6	1014	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	248			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.743A>T	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.864773|4.864773	0.91511|0.91511	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307|ENST00000423004	T;T;T;T;T;T;T;T;T;T|.	0.67865|.	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68988|0.68988	0.3061|0.3061	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.37708|.	0.606;0.356;0.162;0.606|.	P;P;B;P|.	0.52856|.	0.711;0.553;0.43;0.569|.	T|T	0.67397|0.67397	-0.5681|-0.5681	10|5	0.72032|.	D|.	0.01|.	.|.	15.5405|15.5405	0.76039|0.76039	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	174;171;248;154|.	B4DVS7;A8K6Z3;O00506;B4E185|.	.;.;STK25_HUMAN;.|.	V|W	248;248;248;171;154;171;154;154;154;152;154|130	ENSP00000325748:E248V;ENSP00000384162:E248V;ENSP00000385687:E248V;ENSP00000384444:E171V;ENSP00000385541:E171V;ENSP00000444886:E154V;ENSP00000446008:E154V;ENSP00000399212:E154V;ENSP00000417020:E152V;ENSP00000403607:E154V|.	ENSP00000325748:E248V|.	E|R	-|-	2|1	0|2	STK25|STK25	242087105|242087105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.799000|7.799000	0.85936|0.85936	2.130000|2.130000	0.65690|0.65690	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.637	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		3	10	0	0	0	0.004672	0	3	10				
TGM3	7053	broad.mit.edu	37	20	2290900	2290900	+	Silent	SNP	G	G	A	rs140997555		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:2290900G>A	ENST00000381458.5	+	3	321	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	86					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.A86A(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTGGAGTGCGGTGCTTCAGG	0.562																																							uc002wfx.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(256-258)GCG>GCA		transglutaminase 3 precursor	L-Glutamine(DB00130)	G		2,4404	4.2+/-10.8	0,2,2201	126.0	112.0	117.0		258	-8.9	0.0	20	dbSNP_134	117	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	TGM3	NM_003245.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		86/694	2290900	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290900G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.258G>A	20.37:g.2290900G>A							p.A86A	NM_003245	NP_003236	Q08188	TGM3_HUMAN			3	355	+			86					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.258G>A	CCDS33435.1																																																																																				0.562	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		70	234	0	0	0	0.01441	0	70	234				
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:39990047C>T	ENST00000332312.3	-	4	2354	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672																																							uc002xjy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2161-2163)AGA>AAA		elastin microfibril interfacer 3							35.0	28.0	31.0					20																	39990047		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990047C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2162G>A	20.37:g.39990047C>T	ENSP00000332806:p.Arg721Lys						p.R721K	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2386	-		Myeloproliferative disorder(115;0.00425)	721					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.2162G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	4.234	0.042325	0.08196	.	.	ENSG00000183798	ENST00000332312	T	0.13538	2.58	5.28	-0.442	0.12253	.	0.660717	0.15939	N	0.237266	T	0.05686	0.0149	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	.	.	.	-6.8163	1.9571	0.03378	0.1208:0.2557:0.3681:0.2555	.	721	Q9NT22	EMIL3_HUMAN	K	721	ENSP00000332806:R721K	.	R	-	2	0	EMILIN3	39423461	0.000000	0.05858	0.459000	0.27081	0.733000	0.41908	0.319000	0.19522	0.217000	0.20800	0.561000	0.74099	AGA		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		9	15	0	0	0	0.004482	0	9	15				
DPM1	8813	broad.mit.edu	37	20	49575810	49575810	+	5'Flank	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:49575810C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.S144L|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.S144L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GCCGCCGCCTCGCTGCGCCGC	0.637																																							uc002xvy.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(430-432)TCG>TTG		molybdenum cofactor synthesis 3							32.0	36.0	35.0					20																	49575810		2188	4275	6463	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575810C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575810C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.S144L	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	448	+			144					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.431C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536932	0.45176	.	.	ENSG00000124217	ENST00000244051	T	0.28454	1.61	5.79	4.84	0.62591	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.310768	0.33959	N	0.004389	T	0.30070	0.0753	L	0.47016	1.485	0.09310	N	0.999999	B	0.31769	0.339	B	0.33454	0.164	T	0.12502	-1.0545	9	.	.	.	-3.4574	15.8319	0.78760	0.1371:0.8629:0.0:0.0	.	144	O95396	MOCS3_HUMAN	L	144	ENSP00000244051:S144L	.	S	+	2	0	MOCS3	49009217	0.213000	0.23551	0.749000	0.31150	0.361000	0.29550	2.308000	0.43690	1.435000	0.47434	0.561000	0.74099	TCG		0.637	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		12	45	0	0	0	0.010504	0	12	45				
DOK5	55816	broad.mit.edu	37	20	53205055	53205055	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:53205055C>G	ENST00000262593.5	+	3	558	c.208C>G	c.(208-210)Cga>Gga	p.R70G	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	70	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R70G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACGTAGCTCGATTGCCAAA	0.408																																							uc002xwy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)CGA>GGA		docking protein 5							155.0	148.0	151.0					20																	53205055		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53205055C>G	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.208C>G	20.37:g.53205055C>G	ENSP00000262593:p.Arg70Gly					DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	p.R70G	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		3	428	+			70			PH.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.208C>G	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630269	0.67015	.	.	ENSG00000101134	ENST00000262593	T	0.72394	-0.65	5.47	4.52	0.55395	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	L	0.58810	1.83	0.80722	D	1	D	0.64830	0.994	D	0.74023	0.982	T	0.82002	-0.0673	10	0.56958	D	0.05	-17.5009	14.2608	0.66083	0.2693:0.7307:0.0:0.0	.	70	Q9P104	DOK5_HUMAN	G	70	ENSP00000262593:R70G	ENSP00000262593:R70G	R	+	1	2	DOK5	52638462	0.942000	0.31987	0.946000	0.38457	0.997000	0.91878	2.013000	0.40942	1.425000	0.47237	0.557000	0.71058	CGA		0.408	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			10	699	0	0	0	0.016723	0	10	699				
PCK1	5105	broad.mit.edu	37	20	56138667	56138667	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr20:56138667C>A	ENST00000319441.4	+	6	1009	c.845C>A	c.(844-846)gCc>gAc	p.A282D	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.A150D	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	282					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.A282D(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TACCTGGCGGCCGCATTTCCC	0.557																																							uc002xyn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(844-846)GCC>GAC		cytosolic phosphoenolpyruvate carboxykinase 1							69.0	70.0	69.0					20																	56138667		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138667C>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.845C>A	20.37:g.56138667C>A	ENSP00000319814:p.Ala282Asp					PCK1_uc010zzm.1_Intron	p.A282D	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1008	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		282					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.845C>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836742	0.71373	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.08634	3.07;3.07	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69250	-0.5194	10	0.87932	D	0	-15.67	18.8895	0.92392	0.0:1.0:0.0:0.0	.	282	P35558	PCKGC_HUMAN	D	282;150	ENSP00000319814:A282D;ENSP00000444342:A150D	ENSP00000319814:A282D	A	+	2	0	PCK1	55572073	1.000000	0.71417	0.082000	0.20525	0.219000	0.24729	7.380000	0.79704	2.478000	0.83669	0.561000	0.74099	GCC		0.557	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			20	35	1	0	1.64113e-05	0.010504	1.73734e-05	20	35				
GRIK1	2897	broad.mit.edu	37	21	30949386	30949386	+	Silent	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:30949386T>A	ENST00000399907.1	-	14	2439	c.2028A>T	c.(2026-2028)gtA>gtT	p.V676V	GRIK1_ENST00000309434.7_Silent_p.V678V|GRIK1_ENST00000399909.1_Silent_p.V661V|GRIK1_ENST00000399914.1_Silent_p.V661V|GRIK1_ENST00000389125.3_Silent_p.V661V|GRIK1_ENST00000535441.1_Silent_p.V678V|GRIK1_ENST00000327783.4_Silent_p.V676V|GRIK1_ENST00000389124.2_Silent_p.V676V|GRIK1_ENST00000399913.1_Silent_p.V676V	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	676					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V661V(1)|p.V676V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CCATTCTCTCTACTGTCAAGA	0.453																																							uc002yno.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2026-2028)GTA>GTT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120.0	114.0	116.0					21																	30949386		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30949386T>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2028A>T	21.37:g.30949386T>A						GRIK1_uc002ynn.2_Silent_p.V661V|GRIK1_uc011acs.1_Silent_p.V676V|GRIK1_uc011act.1_Silent_p.V537V	p.V676V	NM_000830	NP_000821	P39086	GRIK1_HUMAN			14	2492	-			676			Extracellular (Potential).		Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.2028A>T	CCDS42913.1																																																																																				0.453	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			17	125	0	0	0	0.00499	0	17	125				
DSCAM	1826	broad.mit.edu	37	21	41741116	41741116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr21:41741116C>T	ENST00000400454.1	-	4	1042	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	189	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E189K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATCCATCTTCATTCTGTACA	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(565-567)GAA>AAA		Down syndrome cell adhesion molecule isoform							103.0	103.0	103.0					21																	41741116		1945	4141	6086	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741116C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.565G>A	21.37:g.41741116C>T	ENSP00000383303:p.Glu189Lys					DSCAM_uc002yyr.1_RNA	p.E189K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			4	1017	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	189			Ig-like C2-type 2.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.565G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	37	6.043053	0.97231	.	.	ENSG00000171587	ENST00000400454	T	0.13420	2.59	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.87827	2.91	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	T	0.36866	-0.9730	10	0.46703	T	0.11	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	189	O60469	DSCAM_HUMAN	K	189	ENSP00000383303:E189K	ENSP00000383303:E189K	E	-	1	0	DSCAM	40662986	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GAA		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	75	0	0	0	0.004482	0	9	75				
P2RX6	9127	broad.mit.edu	37	22	21377428	21377428	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr22:21377428C>A	ENST00000413302.2	+	6	727	c.579C>A	c.(577-579)gcC>gcA	p.A193A	P2RX6_ENST00000443995.3_Silent_p.A140A|P2RX6_ENST00000336296.2_Silent_p.A183A|P2RX6_ENST00000401443.1_Silent_p.A167A|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	193					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.A183A(1)									TGGCCCAGGCCCAGAACTTCA	0.582																																							uc010gsu.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)GCC>GCA		purinergic receptor P2X6 isoform 1							88.0	88.0	88.0					22																	21377428		2203	4300	6503	SO:0001819	synonymous_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21377428C>A		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.579C>A	22.37:g.21377428C>A						P2RX6_uc002ztz.2_Silent_p.A167A|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	p.A193A	NM_005446	NP_005437	O15547	P2RX6_HUMAN			6	579	+			193			Extracellular (Potential).		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	c.579C>A	CCDS13788.2																																																																																				0.582	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		19	57	1	0	1.50039e-11	0.012319	1.6997e-11	19	57				
CSPG5	10675	broad.mit.edu	37	3	47610668	47610668	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:47610668T>C	ENST00000383738.2	-	4	3530	c.1432A>G	c.(1432-1434)Acc>Gcc	p.T478A	CSPG5_ENST00000264723.4_Missense_Mutation_p.T478A|CSPG5_ENST00000456150.1_Missense_Mutation_p.T340A	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	478					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.T478A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCGGCAATGGTGGAGAGGGAG	0.498																																							uc003crp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1432-1434)ACC>GCC		chondroitin sulfate proteoglycan 5 (neuroglycan							142.0	122.0	129.0					3																	47610668		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47610668T>C	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1432A>G	3.37:g.47610668T>C	ENSP00000373244:p.Thr478Ala					CSPG5_uc003crn.2_Missense_Mutation_p.T340A|CSPG5_uc003cro.3_Missense_Mutation_p.T478A|CSPG5_uc011bbb.1_Missense_Mutation_p.T340A	p.T478A	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1608	-			478			Cytoplasmic (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1432A>G	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	T	33	5.217111	0.95104	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.34667	1.53;1.35;1.37	5.46	5.46	0.80206	Neural chondroitin sulphate proteoglycan cytoplasmic (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.29908	0.895	0.50467	D	0.999872	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.46652	-0.9176	10	0.49607	T	0.09	-22.4736	14.374	0.66860	0.0:0.0:0.0:1.0	.	478;478	O95196;O95196-2	CSPG5_HUMAN;.	A	340;478;478	ENSP00000392096:T340A;ENSP00000373244:T478A;ENSP00000264723:T478A	ENSP00000264723:T478A	T	-	1	0	CSPG5	47585672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.052000	0.76634	2.062000	0.61559	0.533000	0.62120	ACC		0.498	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		12	51	0	0	0	0.020292	0	12	51				
SLC9C1	285335	broad.mit.edu	37	3	111870756	111870756	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:111870756C>A	ENST00000305815.5	-	28	3724	c.3472G>T	c.(3472-3474)Ggg>Tgg	p.G1158W	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G1110W	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1158					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.G1158W(1)									AACTTTGTCCCCAGCAGGGAG	0.502																																							uc003dyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(3472-3474)GGG>TGG		sperm-specific sodium proton exchanger							88.0	93.0	91.0					3																	111870756		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111870756C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3472G>T	3.37:g.111870756C>A	ENSP00000306627:p.Gly1158Trp					SLC9A10_uc011bhu.1_Missense_Mutation_p.G421W|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1110W	p.G1158W	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			28	3694	-			1158					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3472G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.835	-0.468869	0.04445	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.80480	-1.36;-1.38	.	.	.	.	.	.	.	.	T	0.59473	0.2196	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.04013	0.0;0.001	T	0.51260	-0.8728	7	0.87932	D	0	.	.	.	.	.	1110;1158	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	W	1158;1110	ENSP00000306627:G1158W;ENSP00000420688:G1110W	ENSP00000306627:G1158W	G	-	1	0	SLC9A10	113353446	0.000000	0.05858	0.064000	0.19789	0.112000	0.19704	-0.506000	0.06359	0.088000	0.17205	0.089000	0.15464	GGG		0.502	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		73	176	1	0	2.75442e-36	0.01441	3.47986e-36	73	176				
SLC35A5	55032	broad.mit.edu	37	3	112299565	112299565	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:112299565A>G	ENST00000492406.1	+	6	884	c.601A>G	c.(601-603)Aga>Gga	p.R201G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	201					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.R201G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGAGTGTCCCAGAAAAGACAA	0.453																																							uc003dze.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)AGA>GGA		solute carrier family 35, member A5							121.0	119.0	119.0					3																	112299565		2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112299565A>G	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.601A>G	3.37:g.112299565A>G	ENSP00000417654:p.Arg201Gly						p.R201G	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN			6	846	+			201					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.601A>G	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	A	2.703	-0.270499	0.05716	.	.	ENSG00000138459	ENST00000492406	T	0.44083	0.93	5.54	-2.93	0.05598	.	0.697105	0.15352	N	0.266901	T	0.14098	0.0341	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	9	.	.	.	2.5223	7.5203	0.27624	0.2693:0.1631:0.5676:0.0	.	201	Q9BS91	S35A5_HUMAN	G	201	ENSP00000417654:R201G	.	R	+	1	2	SLC35A5	113782255	0.038000	0.19896	0.001000	0.08648	0.204000	0.24138	0.631000	0.24568	-0.437000	0.07243	-0.386000	0.06593	AGA		0.453	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		21	175	0	0	0	0.016522	0	21	175				
ZDHHC23	254887	broad.mit.edu	37	3	113673059	113673059	+	Missense_Mutation	SNP	C	C	T	rs147787442		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:113673059C>T	ENST00000330212.3	+	3	973	c.674C>T	c.(673-675)cCt>cTt	p.P225L	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572																																							uc003eau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(673-675)CCT>CTT		zinc finger, DHHC domain containing 23		C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	93.0	94.0	94.0		674	2.8	0.3	3	dbSNP_134	94	0,8600		0,0,4300	yes	missense	ZDHHC23	NM_173570.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	225/410	113673059	2,13004	2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673059C>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.674C>T	3.37:g.113673059C>T	ENSP00000330485:p.Pro225Leu					ZDHHC23_uc003eav.2_Missense_Mutation_p.P219L	p.P225L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	973	+			225					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.674C>T	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	C	0.760	-0.769511	0.02974	4.54E-4	0.0	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.42900	0.96;0.96	5.49	2.76	0.32466	.	0.959225	0.08775	N	0.895612	T	0.27489	0.0675	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.11182	T	0.66	-14.7409	4.7909	0.13248	0.1844:0.5804:0.0:0.2352	.	225	Q8IYP9	ZDH23_HUMAN	L	225;219	ENSP00000330485:P225L;ENSP00000417840:P219L	ENSP00000330485:P225L	P	+	2	0	ZDHHC23	115155749	0.088000	0.21588	0.331000	0.25455	0.215000	0.24574	0.559000	0.23485	0.296000	0.22592	0.561000	0.74099	CCT		0.572	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		5	131	0	0	0	0.014758	0	5	131				
ATR	545	broad.mit.edu	37	3	142171996	142171996	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:142171996C>T	ENST00000350721.4	-	46	7856	c.7735G>A	c.(7735-7737)Gaa>Aaa	p.E2579K	ATR_ENST00000383101.3_Missense_Mutation_p.E2515K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2579					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E2579K(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCCAGTTTCATTCAGTGGC	0.368								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7735-7737)GAA>AAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							149.0	143.0	145.0					3																	142171996		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142171996C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7735G>A	3.37:g.142171996C>T	ENSP00000343741:p.Glu2579Lys					ATR_uc003euy.1_Missense_Mutation_p.E465K	p.E2579K	NM_001184	NP_001175	Q13535	ATR_HUMAN			46	7857	-			2579					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7735G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547923	0.65311	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03745	3.82;3.86	5.18	5.18	0.71444	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.04770	0.0129	L	0.29908	0.895	0.80722	D	1	P	0.40660	0.726	B	0.39617	0.305	T	0.55315	-0.8160	10	0.33940	T	0.23	-18.558	18.6821	0.91549	0.0:1.0:0.0:0.0	.	2579	Q13535	ATR_HUMAN	K	2579;2515	ENSP00000343741:E2579K;ENSP00000372581:E2515K	ENSP00000343741:E2579K	E	-	1	0	ATR	143654686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.727000	0.84838	2.419000	0.82065	0.585000	0.79938	GAA		0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		34	82	0	0	0	0.00874	0	34	82				
IGSF10	285313	broad.mit.edu	37	3	151164737	151164737	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:151164737C>A	ENST00000282466.3	-	4	3031	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1011					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.G1011V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTGCCTCCCAAAGCGTCT	0.498																																							uc011bod.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3031-3033)GGG>GTG		immunoglobulin superfamily, member 10 precursor							72.0	74.0	73.0					3																	151164737		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164737C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3032G>T	3.37:g.151164737C>A	ENSP00000282466:p.Gly1011Val						p.G1011V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3032	-			1011					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3032G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979557	0.34942	.	.	ENSG00000152580	ENST00000282466	D	0.88975	-2.45	5.46	3.61	0.41365	.	0.000000	0.47852	D	0.000219	D	0.86468	0.5940	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.86786	0.1982	10	0.66056	D	0.02	.	10.7032	0.45939	0.0:0.796:0.1325:0.0715	.	1011	Q6WRI0	IGS10_HUMAN	V	1011	ENSP00000282466:G1011V	ENSP00000282466:G1011V	G	-	2	0	IGSF10	152647427	0.948000	0.32251	0.580000	0.28601	0.021000	0.10359	2.085000	0.41634	0.630000	0.30394	0.591000	0.81541	GGG		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		29	160	1	0	1.08312e-15	0.009535	1.26433e-15	29	160				
GHSR	2693	broad.mit.edu	37	3	172165759	172165759	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172165759G>T	ENST00000241256.2	-	1	487	c.445C>A	c.(445-447)Ctc>Atc	p.L149I	GHSR_ENST00000427970.1_Missense_Mutation_p.L149I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	149					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.L149I(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTGGCCCGGAGTGGGAAGCAG	0.617																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(445-447)CTC>ATC		growth hormone secretagogue receptor isoform 1a							57.0	56.0	56.0					3																	172165759		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165759G>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.445C>A	3.37:g.172165759G>T	ENSP00000241256:p.Leu149Ile					GHSR_uc011bpv.1_Missense_Mutation_p.L149I	p.L149I	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	445	-	Ovarian(172;0.00143)|Breast(254;0.197)		149			Cytoplasmic (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.445C>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936768	0.73557	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.32753	1.44;1.44	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.75884	2.315	0.58432	D	0.999998	D;P	0.60575	0.988;0.933	P;P	0.62491	0.903;0.855	T	0.48019	-0.9071	10	0.39692	T	0.17	-14.652	10.487	0.44729	0.1479:0.0:0.8521:0.0	.	149;149	Q92847-2;Q92847	.;GHSR_HUMAN	I	149	ENSP00000241256:L149I;ENSP00000395344:L149I	ENSP00000241256:L149I	L	-	1	0	GHSR	173648453	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.786000	0.69006	1.365000	0.46057	0.455000	0.32223	CTC		0.617	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		80	91	1	0	3.48759e-61	0.01441	4.4427e-61	80	91				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			28	21	0	0	0	0.010818	0	28	21				
MAEA	10296	broad.mit.edu	37	4	1309203	1309203	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:1309203G>A	ENST00000303400.4	+	3	334	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MAEA_ENST00000452175.2_Intron|MAEA_ENST00000505177.2_Missense_Mutation_p.A91T|MAEA_ENST00000264750.6_Missense_Mutation_p.A91T|MAEA_ENST00000505839.1_Missense_Mutation_p.A43T|MAEA_ENST00000510794.1_Missense_Mutation_p.A90T|MAEA_ENST00000514708.1_Missense_Mutation_p.A91T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	91	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A91T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	ATCCATCCAGGCCGAGGACGA	0.662																																							uc003gda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(271-273)GCC>ACC		macrophage erythroblast attacher isoform 1							52.0	51.0	52.0					4																	1309203		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1309203G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.271G>A	4.37:g.1309203G>A	ENSP00000302830:p.Ala91Thr					MAEA_uc010ibs.1_Missense_Mutation_p.A91T|MAEA_uc003gdb.2_Missense_Mutation_p.A91T|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Missense_Mutation_p.A91T|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.A90T|MAEA_uc011bvd.1_Missense_Mutation_p.A43T|MAEA_uc010ibt.2_5'UTR	p.A91T	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		3	301	+			91			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.271G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607525	0.87157	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000514708;ENST00000510794;ENST00000512842;ENST00000505839	T;T;T;T;T;T	0.47869	0.88;0.87;0.83;0.91;0.89;0.87	5.61	5.61	0.85477	.	0.053932	0.64402	D	0.000001	T	0.34279	0.0892	N	0.12471	0.22	0.80722	D	1	P;P;B;P;B	0.44776	0.605;0.591;0.073;0.843;0.329	B;B;B;B;B	0.41271	0.152;0.352;0.034;0.291;0.191	T	0.10428	-1.0630	10	0.25106	T	0.35	-7.6869	19.2218	0.93799	0.0:0.0:1.0:0.0	.	90;91;91;91;91	B4DVN3;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;MAEA_HUMAN	T	91;91;91;91;91;70;91;90;43;43	ENSP00000302830:A91T;ENSP00000422215:A91T;ENSP00000421644:A91T;ENSP00000264750:A91T;ENSP00000427512:A91T;ENSP00000426807:A90T	ENSP00000264750:A91T	A	+	1	0	MAEA	1299203	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	9.493000	0.97960	2.644000	0.89710	0.491000	0.48974	GCC		0.662	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		14	48	0	0	0	0.003163	0	14	48				
GABRA2	2555	broad.mit.edu	37	4	46314600	46314600	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:46314600T>G	ENST00000510861.1	-	5	562	c.389A>C	c.(388-390)aAt>aCt	p.N130T	GABRA2_ENST00000381620.4_Missense_Mutation_p.N130T|GABRA2_ENST00000540012.1_Missense_Mutation_p.N75T|GABRA2_ENST00000507069.1_Missense_Mutation_p.N130T|GABRA2_ENST00000515082.1_Missense_Mutation_p.N130T|GABRA2_ENST00000356504.1_Missense_Mutation_p.N130T|GABRA2_ENST00000514090.1_Missense_Mutation_p.N130T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	130					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N130T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTTTTCCCATTGTGAAAAAA	0.353																																							uc003gxc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(388-390)AAT>ACT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						106.0	109.0	108.0					4																	46314600		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314600T>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.389A>C	4.37:g.46314600T>G	ENSP00000421828:p.Asn130Thr					GABRA2_uc010igc.2_Missense_Mutation_p.N130T|GABRA2_uc011bzc.1_Missense_Mutation_p.N75T|GABRA2_uc003gxe.2_Missense_Mutation_p.N130T	p.N130T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			4	1062	-			130			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.389A>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709036	0.89018	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	D;D;D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.088035	0.85682	D	0.000000	D	0.94634	0.8270	M	0.90705	3.14	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;P;D	0.91635	0.963;0.885;0.999	D	0.95490	0.8568	10	0.87932	D	0	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	75;130;130	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	130;130;130;130;75;130;130;130;130	ENSP00000421828:N130T;ENSP00000421300:N130T;ENSP00000371033:N130T;ENSP00000348897:N130T;ENSP00000444409:N75T;ENSP00000427603:N130T;ENSP00000423840:N130T;ENSP00000424362:N130T;ENSP00000424093:N130T	ENSP00000348897:N130T	N	-	2	0	GABRA2	46009357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	AAT		0.353	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			34	238	0	0	0	0.005524	0	34	238				
LPHN3	23284	broad.mit.edu	37	4	62812790	62812790	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:62812790A>C	ENST00000514591.1	+	15	2703	c.2374A>C	c.(2374-2376)Aac>Cac	p.N792H	LPHN3_ENST00000507164.1_Missense_Mutation_p.N860H|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.N860H|LPHN3_ENST00000504896.1_Missense_Mutation_p.N792H|LPHN3_ENST00000514157.1_Missense_Mutation_p.N792H|LPHN3_ENST00000506700.1_Missense_Mutation_p.N792H|LPHN3_ENST00000507625.1_Missense_Mutation_p.N860H|LPHN3_ENST00000514996.1_Missense_Mutation_p.N792H|LPHN3_ENST00000506720.1_Missense_Mutation_p.N860H|LPHN3_ENST00000506746.1_Missense_Mutation_p.N860H|LPHN3_ENST00000508946.1_Missense_Mutation_p.N792H|LPHN3_ENST00000511324.1_Missense_Mutation_p.N860H|LPHN3_ENST00000512091.2_Missense_Mutation_p.N792H|LPHN3_ENST00000545650.1_Missense_Mutation_p.N792H|LPHN3_ENST00000509896.1_Missense_Mutation_p.N860H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	779					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.N792H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGAGTTCAGTAACAAGGTTTA	0.348																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2374-2376)AAC>CAC		latrophilin 3 precursor							142.0	132.0	135.0					4																	62812790		1855	4081	5936	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812790A>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2374A>C	4.37:g.62812790A>C	ENSP00000422533:p.Asn792His					LPHN3_uc003hcq.3_Missense_Mutation_p.N792H|LPHN3_uc003hct.2_Missense_Mutation_p.N185H	p.N792H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2547	+			779			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2374A>C	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.739486|3.739486	0.69304|0.69304	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71461|.	-0.56;-0.54;-0.57;-0.57;-0.56;-0.54;-0.56;-0.56;-0.55;-0.55;-0.55;-0.55;-0.57;-0.56;-0.55|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59432|.	0.2193|.	L|L	0.45581|0.45581	1.43|1.43	0.46222|0.46222	D|D	0.998939|0.998939	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.85130|.	0.994;0.994;0.997|.	T|.	0.57423|.	-0.7814|.	10|.	0.62326|.	D|.	0.03|.	.|.	11.6097|11.6097	0.51052|0.51052	0.8513:0.1486:0.0:0.0|0.8513:0.1486:0.0:0.0	.|.	792;779;792|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	H|S	792;792;860;860;792;792;779;792;860;860;860;792;792;792;860;860;792|249	ENSP00000423388:N792H;ENSP00000422533:N792H;ENSP00000423787:N860H;ENSP00000425033:N860H;ENSP00000424120:N792H;ENSP00000439831:N792H;ENSP00000421476:N860H;ENSP00000424030:N860H;ENSP00000421372:N860H;ENSP00000425201:N792H;ENSP00000423434:N792H;ENSP00000421627:N792H;ENSP00000420931:N860H;ENSP00000425884:N860H;ENSP00000424258:N792H|.	ENSP00000280009:N792H|.	N|X	+|+	1|2	0|2	LPHN3|LPHN3	62495385|62495385	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.555000|4.555000	0.60767|0.60767	2.097000|2.097000	0.63578|0.63578	0.455000|0.455000	0.32223|0.32223	AAC|TAA		0.348	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			29	280	0	0	0	0.008361	0	29	280				
HELQ	113510	broad.mit.edu	37	4	84352854	84352854	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:84352854C>T	ENST00000295488.3	-	11	2420	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E	HELQ_ENST00000510985.1_Missense_Mutation_p.G686E	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	753	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.G753E(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGTTTGGATTCCCTTGGTGAA	0.308								Other identified genes with known or suspected DNA repair function																															uc003hom.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2257-2259)GGA>GAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							68.0	74.0	72.0					4																	84352854		2202	4293	6495	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84352854C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2258G>A	4.37:g.84352854C>T	ENSP00000295488:p.Gly753Glu					HELQ_uc010ikb.2_Missense_Mutation_p.G686E|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.G753E	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			11	2437	-			753			Helicase C-terminal.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2258G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153304	0.78114	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.40476	1.03;1.03	5.53	5.53	0.82687	Helicase, C-terminal (1);	0.055095	0.64402	D	0.000001	T	0.62233	0.2411	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.68192	0.956;0.805	T	0.60964	-0.7158	10	0.34782	T	0.22	-6.2673	12.774	0.57437	0.0:0.9252:0.0:0.0748	.	686;753	E3W980;Q8TDG4	.;HELQ_HUMAN	E	753;686	ENSP00000295488:G753E;ENSP00000424539:G686E	ENSP00000295488:G753E	G	-	2	0	HELQ	84571878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.377000	0.66184	2.593000	0.87608	0.655000	0.94253	GGA		0.308	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		14	49	0	0	0	0.007413	0	14	49				
FAM13A	10144	broad.mit.edu	37	4	89660226	89660226	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:89660226C>T	ENST00000264344.5	-	20	2724	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	FAM13A_ENST00000395002.2_Silent_p.R513R|FAM13A_ENST00000511976.1_Silent_p.R425R|FAM13A_ENST00000508369.1_Silent_p.R513R|FAM13A_ENST00000503556.1_Silent_p.R499R|FAM13A_ENST00000513837.1_Silent_p.R485R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	839					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R839R(1)|p.R513R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTTTGACCAGCCGGTACCTGT	0.507																																							uc003hse.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(2515-2517)CGG>CGA		family with sequence similarity 13, member A1							188.0	151.0	164.0					4																	89660226		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89660226C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2517G>A	4.37:g.89660226C>T						FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.R310R|FAM13A_uc003hsb.1_Silent_p.R513R|FAM13A_uc003hsd.1_Silent_p.R513R|FAM13A_uc003hsc.1_Silent_p.R499R|FAM13A_uc011cdq.1_Silent_p.R485R|FAM13A_uc003hsf.1_Silent_p.R425R|FAM13A_uc003hsg.1_Silent_p.R310R	p.R839R	NM_014883	NP_055698	O94988	FA13A_HUMAN			20	2725	-			839					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.2517G>A	CCDS34029.1																																																																																				0.507	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			9	81	0	0	0	0.008291	0	9	81				
INTS12	57117	broad.mit.edu	37	4	106616825	106616825	+	Splice_Site	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:106616825C>G	ENST00000451321.2	-	3	636	c.157G>C	c.(157-159)Gat>Cat	p.D53H	INTS12_ENST00000340139.5_Splice_Site_p.D53H|INTS12_ENST00000394735.1_Splice_Site_p.D53H	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	53					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.D53H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGCTCCACATCCTAAAAGATG	0.294																																							uc003hxw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GAT>CAT		integrator complex subunit 12							91.0	93.0	93.0					4																	106616825		2203	4300	6503	SO:0001630	splice_region_variant	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106616825C>G		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.157-1G>C	4.37:g.106616825C>G						INTS12_uc010ilr.2_Missense_Mutation_p.D53H	p.D53H	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	4	415	-			53					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.157G>C	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253209	0.80135	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368;ENST00000416543;ENST00000433009	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.97;0.97	5.64	5.64	0.86602	.	0.091646	0.85682	D	0.000000	T	0.47525	0.1450	N	0.19112	0.55	0.58432	D	0.999995	D	0.52996	0.957	P	0.51582	0.674	T	0.44922	-0.9296	10	0.45353	T	0.12	-22.4832	19.7174	0.96129	0.0:1.0:0.0:0.0	.	53	Q96CB8	INT12_HUMAN	H	53	ENSP00000378221:D53H;ENSP00000340737:D53H;ENSP00000415433:D53H;ENSP00000396309:D53H;ENSP00000396729:D53H	ENSP00000340737:D53H	D	-	1	0	INTS12	106836274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.747000	0.68689	2.653000	0.90120	0.655000	0.94253	GAT		0.294	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395	Missense_Mutation	15	184	0	0	0	0.004007	0	15	184				
SPATA5	166378	broad.mit.edu	37	4	123900467	123900467	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:123900467C>G	ENST00000274008.4	+	10	1864	c.1795C>G	c.(1795-1797)Ctg>Gtg	p.L599V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	599					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L599V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAGATTACTCTGAAGGATTT	0.443																																							uc003iez.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1795-1797)CTG>GTG		spermatogenesis associated 5							144.0	137.0	139.0					4																	123900467		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123900467C>G	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1795C>G	4.37:g.123900467C>G	ENSP00000274008:p.Leu599Val					SPATA5_uc003iey.2_Missense_Mutation_p.L598V	p.L599V	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			10	1868	+			599					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1795C>G	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	8.730	0.916532	0.17907	.	.	ENSG00000145375	ENST00000274008	D	0.95035	-3.59	5.02	2.3	0.28687	.	0.384625	0.23861	N	0.043849	D	0.90721	0.7088	L	0.59912	1.85	0.09310	N	0.999999	B;B	0.25563	0.129;0.064	B;B	0.23419	0.046;0.039	T	0.81468	-0.0919	10	0.39692	T	0.17	-21.5767	6.6896	0.23163	0.0:0.6412:0.1343:0.2245	.	599;599	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	599	ENSP00000274008:L599V	ENSP00000274008:L599V	L	+	1	2	SPATA5	124119917	0.383000	0.25156	0.036000	0.18154	0.826000	0.46750	0.107000	0.15375	0.274000	0.22072	0.591000	0.81541	CTG		0.443	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		96	267	0	0	0	0.01441	0	96	267				
GYPB	2994	broad.mit.edu	37	4	145038046	145038046	+	Intron	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:145038046C>G	ENST00000283126.7	-	1	93				RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000360771.4_Silent_p.T106T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000324022.10_Silent_p.T73T			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T106T(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTAAGAGGATCGTTCCAATAA	0.358																																							uc003ijo.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(316-318)ACG>ACC		glycophorin A precursor							129.0	132.0	131.0					4																	145038046		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038046C>G		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23705G>C	4.37:g.145038046C>G						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.T73T|GYPA_uc003ijp.3_Silent_p.T74T|GYPA_uc010ioq.2_Silent_p.T93T|GYPA_uc010ior.2_Silent_p.T41T|GYPA_uc010ios.1_RNA	p.T106T	NM_002099	NP_002090	P02724	GLPA_HUMAN			5	434	-	all_hematologic(180;0.15)		106			Helical.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.318G>C																																																																																					0.358	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		6	237	0	0	0	0.004482	0	6	237				
SORBS2	8470	broad.mit.edu	37	4	186544260	186544260	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr4:186544260T>A	ENST00000284776.7	-	13	2820	c.2311A>T	c.(2311-2313)Agg>Tgg	p.R771W	SORBS2_ENST00000418609.1_Missense_Mutation_p.R675W|SORBS2_ENST00000355634.5_Missense_Mutation_p.R871W|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.R771W|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	771					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R771W(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGAGTTCCTCTCGGGAACA	0.562																																					Esophageal Squamous(153;41 2433 9491 36028)	Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2311-2313)AGG>TGG		sorbin and SH3 domain containing 2 isoform 2							114.0	130.0	124.0					4																	186544260		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544260T>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2311A>T	4.37:g.186544260T>A	ENSP00000284776:p.Arg771Trp					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R871W|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R675W|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R885W|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.R771W	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	3169	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	771					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2311A>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903652	0.33628	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.56444	0.54;0.54;0.46;0.47	5.92	3.42	0.39159	.	0.305062	0.37809	N	0.001924	T	0.65821	0.2728	M	0.61703	1.905	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.993;0.995	T	0.64997	-0.6275	10	0.87932	D	0	-31.3148	8.8954	0.35460	0.0:0.0657:0.1272:0.8072	.	675;871;771	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	W	771;771;675;871	ENSP00000284776:R771W;ENSP00000411764:R771W;ENSP00000397482:R675W;ENSP00000347852:R871W	ENSP00000284776:R771W	R	-	1	2	SORBS2	186781254	1.000000	0.71417	0.540000	0.28089	0.001000	0.01503	2.540000	0.45727	0.465000	0.27167	-0.441000	0.05720	AGG		0.562	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	120	0	0	0	0.001984	0	4	120				
CDH12	1010	broad.mit.edu	37	5	21751993	21751993	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:21751993G>A	ENST00000382254.1	-	15	3324	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.S706S|CDH12_ENST00000504376.2_Silent_p.S746S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	746					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S746S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCTGCCACGGACCCACTCC	0.512										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2236-2238)TCC>TCT		cadherin 12, type 2 preproprotein							178.0	157.0	164.0					5																	21751993		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21751993G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2238C>T	5.37:g.21751993G>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.S706S|CDH12_uc003jgk.2_Silent_p.S746S|uc003jgj.2_Intron	p.S746S	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2696	-			746			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.2238C>T	CCDS3890.1																																																																																				0.512	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		43	161	0	0	0	0.01441	0	43	161				
UGT3A2	167127	broad.mit.edu	37	5	36037956	36037956	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:36037956T>C	ENST00000282507.3	-	6	1339	c.1238A>G	c.(1237-1239)aAg>aGg	p.K413R	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.K111R|UGT3A2_ENST00000513300.1_Missense_Mutation_p.K379R	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	413					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.K413R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGCTTCTTTAACTGAAT	0.463																																							uc003jjz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1237-1239)AAG>AGG		UDP glycosyltransferase 3 family, polypeptide A2							176.0	165.0	169.0					5																	36037956		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36037956T>C		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1238A>G	5.37:g.36037956T>C	ENSP00000282507:p.Lys413Arg					UGT3A2_uc011cos.1_Missense_Mutation_p.K379R|UGT3A2_uc011cot.1_Missense_Mutation_p.K111R	p.K413R	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1331	-	all_lung(31;0.000179)		413			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1238A>G	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	T	1.997	-0.430454	0.04669	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59638	0.25;0.25;0.25	3.18	3.18	0.36537	.	0.718350	0.11944	U	0.514376	T	0.41373	0.1156	L	0.34521	1.04	0.09310	N	1	B;P	0.40360	0.013;0.714	B;B	0.34590	0.044;0.186	T	0.10268	-1.0637	10	0.14656	T	0.56	.	11.3816	0.49761	0.0:0.0:0.0:1.0	.	379;413	E9PFK7;Q3SY77	.;UD3A2_HUMAN	R	413;379;111	ENSP00000282507:K413R;ENSP00000427404:K379R;ENSP00000445367:K111R	ENSP00000282507:K413R	K	-	2	0	UGT3A2	36073713	0.018000	0.18449	0.002000	0.10522	0.007000	0.05969	2.191000	0.42640	1.683000	0.51011	0.460000	0.39030	AAG		0.463	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		96	506	0	0	0	0.01441	0	96	506				
SKIV2L2	23517	broad.mit.edu	37	5	54649065	54649065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:54649065G>A	ENST00000230640.5	+	14	1755	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A400T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	501	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A501T(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTTACAAATGCCCGCAAATT	0.323																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1501-1503)GCC>ACC		superkiller viralicidic activity 2-like 2							87.0	94.0	92.0					5																	54649065		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54649065G>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1501G>A	5.37:g.54649065G>A	ENSP00000230640:p.Ala501Thr					SKIV2L2_uc011cqi.1_Missense_Mutation_p.A400T	p.A501T	NM_015360	NP_056175	P42285	SK2L2_HUMAN			14	1767	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	501			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1501G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430900	0.83776	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.42513	0.97;0.97	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	N	0.00808	-1.17	0.80722	D	1	P;B	0.40398	0.716;0.022	P;B	0.45681	0.49;0.038	T	0.51679	-0.8675	10	0.49607	T	0.09	-16.1639	20.8598	0.99761	0.0:0.0:1.0:0.0	.	400;501	F5H7E2;P42285	.;SK2L2_HUMAN	T	501;400	ENSP00000230640:A501T;ENSP00000442583:A400T	ENSP00000230640:A501T	A	+	1	0	SKIV2L2	54684822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.489000	0.97949	2.937000	0.99478	0.650000	0.86243	GCC		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			9	75	0	0	0	0.008291	0	9	75				
POLK	51426	broad.mit.edu	37	5	74865234	74865234	+	Missense_Mutation	SNP	G	G	A	rs528175397		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:74865234G>A	ENST00000241436.4	+	4	497	c.325G>A	c.(325-327)Gat>Aat	p.D109N	POLK_ENST00000508526.1_Missense_Mutation_p.D109N|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.D109N|POLK_ENST00000352007.5_Missense_Mutation_p.D109N|POLK_ENST00000504026.1_Missense_Mutation_p.D109N|POLK_ENST00000380481.3_Missense_Mutation_p.D19N	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	109	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D109N(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CATTGACATGGATGCTTTCTA	0.343								DNA polymerases (catalytic subunits)																															uc003kdw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)	4						c.(325-327)GAT>AAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							97.0	91.0	93.0					5																	74865234		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74865234G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.325G>A	5.37:g.74865234G>A	ENSP00000241436:p.Asp109Asn					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Missense_Mutation_p.D109N|POLK_uc003kea.2_Missense_Mutation_p.D109N|POLK_uc003keb.2_Missense_Mutation_p.D109N|POLK_uc010izq.2_Missense_Mutation_p.D109N|POLK_uc003kec.2_Missense_Mutation_p.D19N|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.D19N|POLK_uc003kee.2_Missense_Mutation_p.D109N|POLK_uc003kef.2_Missense_Mutation_p.D19N	p.D109N	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	4	421	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	109			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.325G>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	36	5.960856	0.97151	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	6.03	6.03	0.97812	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.90120	0.6913	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89820	0.3988	10	0.87932	D	0	-17.8695	20.5752	0.99366	0.0:0.0:1.0:0.0	.	109;109;109;109	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	N	109;109;109;109;109;109;19	ENSP00000241436:D109N;ENSP00000342256:D109N;ENSP00000425208:D109N;ENSP00000424174:D109N;ENSP00000425075:D109N;ENSP00000426853:D109N;ENSP00000369848:D19N	ENSP00000241436:D109N	D	+	1	0	POLK	74900990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	GAT		0.343	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		12	112	0	0	0	0.004007	0	12	112				
POC5	134359	broad.mit.edu	37	5	74981288	74981288	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:74981288T>G	ENST00000428202.2	-	10	1340	c.1151A>C	c.(1150-1152)aAa>aCa	p.K384T	POC5_ENST00000380475.2_Missense_Mutation_p.K267T|POC5_ENST00000446329.2_Missense_Mutation_p.K359T|POC5_ENST00000514838.2_Missense_Mutation_p.K356T|POC5_ENST00000510798.1_Missense_Mutation_p.K267T	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	384					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K358T(1)|p.K384T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCCTTTTTATTATTTGT	0.383																																							uc003keh.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1150-1152)AAA>ACA		proteome of centriole 5 isoform 1							162.0	168.0	166.0					5																	74981288		1892	4127	6019	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74981288T>G	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1151A>C	5.37:g.74981288T>G	ENSP00000410216:p.Lys384Thr					POC5_uc010izu.2_Missense_Mutation_p.K267T|POC5_uc003keg.3_Missense_Mutation_p.K359T	p.K384T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			10	1348	-			384					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1151A>C	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583500	0.46006	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.49139	1.83;1.41;0.79;0.79;1.82	4.27	0.47	0.16747	.	0.508579	0.22565	N	0.058410	T	0.55369	0.1916	M	0.69823	2.125	0.19775	N	0.999957	D;D;D	0.67145	0.996;0.959;0.991	P;P;P	0.58721	0.844;0.583;0.798	T	0.46541	-0.9184	10	0.56958	D	0.05	-15.1481	6.3599	0.21422	0.0:0.3096:0.0:0.6904	.	267;384;359	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	T	384;356;267;267;359	ENSP00000410216:K384T;ENSP00000420971:K356T;ENSP00000369842:K267T;ENSP00000426796:K267T;ENSP00000399481:K359T	ENSP00000369842:K267T	K	-	2	0	POC5	75017044	0.362000	0.24980	0.253000	0.24343	0.789000	0.44602	0.441000	0.21611	0.077000	0.16863	0.459000	0.35465	AAA		0.383	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		16	202	0	0	0	0.008871	0	16	202				
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:80608439G>T	ENST00000254037.2	+	5	3929	c.774G>T	c.(772-774)ccG>ccT	p.P258P	ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000438268.2_Silent_p.P258P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388																																							uc003khj.2		NA																	2	Substitution - coding silent(2)	p.P258L(1)	large_intestine(1)|lung(1)	ovary(1)	1						c.(772-774)CCG>CCT		zinc finger, CCHC domain containing 9							96.0	91.0	92.0					5																	80608439		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80608439G>T	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.774G>T	5.37:g.80608439G>T						RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P258P|ZCCHC9_uc003khi.2_Silent_p.P258P	p.P258P	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	6	907	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	258					B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.774G>T	CCDS4054.1																																																																																				0.388	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		27	107	1	0	2.12542e-12	0.00632	2.41668e-12	27	107				
GPR98	84059	broad.mit.edu	37	5	89943510	89943510	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:89943510C>G	ENST00000405460.2	+	17	3314	c.3218C>G	c.(3217-3219)tCc>tGc	p.S1073C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1073	Calx-beta 8. {ECO:0000255}.				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)	p.S1073F(1)|p.S1073C(1)		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)		CAGAGCATATCCATATTTGTT	0.383																																							uc003kju.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3217-3219)TCC>TGC		G protein-coupled receptor 98 precursor							141.0	135.0	137.0					5																	89943510		1867	4102	5969	SO:0001583	missense	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.chr5:89943510C>G	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	ENST00000405460.2:c.3218C>G	5.37:g.89943510C>G	ENSP00000384582:p.Ser1073Cys					GPR98_uc003kjt.2_Translation_Start_Site	p.S1073C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3314	+		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)	1073			Calx-beta 8.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3218C>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.888192|2.888192	0.52014|0.52014	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	T|T	0.35973|0.31769	1.28|1.48	5.49|5.49	4.62|4.62	0.57501|0.57501	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.226353	.|0.48286	.|D	.|0.000194	T|T	0.59169|0.59169	0.2174|0.2174	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.66567|0.66567	-0.5891|-0.5891	7|10	0.72032|0.72032	D|D	0.01|0.01	.|.	14.0341|14.0341	0.64634|0.64634	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	.|1073	.|Q8WXG9	.|GPR98_HUMAN	M|C	661|1073	ENSP00000424736:I661M|ENSP00000384582:S1073C	ENSP00000424736:I661M|ENSP00000296619:S1073C	I|S	+|+	3|2	3|0	GPR98|GPR98	89979266|89979266	0.998000|0.998000	0.40836|0.40836	0.010000|0.010000	0.14722|0.14722	0.335000|0.335000	0.28730|0.28730	3.685000|3.685000	0.54678|0.54678	1.315000|1.315000	0.45114|0.45114	0.650000|0.650000	0.86243|0.86243	ATC|TCC		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	255	0	0	0	0.009718	0	37	255				
RHOBTB3	22836	broad.mit.edu	37	5	95091260	95091260	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:95091260C>T	ENST00000379982.3	+	6	1351	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	281	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.F281F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCCATGTTTTCATGCTGCTTT	0.433																																							uc003klm.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(841-843)TTC>TTT		rho-related BTB domain containing 3							134.0	121.0	126.0					5																	95091260		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091260C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.843C>T	5.37:g.95091260C>T						RHOBTB3_uc003klk.1_Silent_p.F75F	p.F281F	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1380	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	281			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.843C>T	CCDS4077.1																																																																																				0.433	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		39	139	0	0	0	0.009718	0	39	139				
TCF7	6932	broad.mit.edu	37	5	133477970	133477970	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:133477970G>A	ENST00000321584.4	+	6	926	c.730G>A	c.(730-732)Gag>Aag	p.E244K	TCF7_ENST00000395023.1_Missense_Mutation_p.E129K|TCF7_ENST00000520958.1_Missense_Mutation_p.E129K|TCF7_ENST00000321603.6_Missense_Mutation_p.E244K|TCF7_ENST00000432532.2_Missense_Mutation_p.E129K|TCF7_ENST00000378560.4_Missense_Mutation_p.E129K|TCF7_ENST00000395029.1_Missense_Mutation_p.E244K|TCF7_ENST00000378564.1_Missense_Mutation_p.E244K|TCF7_ENST00000342854.5_Missense_Mutation_p.E244K|TCF7_ENST00000518915.1_Missense_Mutation_p.E129K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	244					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E244K(2)|p.E129K(1)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGGAAGCAGGAGCTGCAGCC	0.607																																							uc003kyt.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(730-732)GAG>AAG		transcription factor 7 (T-cell specific,							66.0	60.0	62.0					5																	133477970		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133477970G>A	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.730G>A	5.37:g.133477970G>A	ENSP00000326540:p.Glu244Lys					TCF7_uc003kyu.1_Missense_Mutation_p.E129K|TCF7_uc003kyv.2_Missense_Mutation_p.E129K|TCF7_uc003kyw.2_Missense_Mutation_p.E129K|TCF7_uc003kyx.2_Missense_Mutation_p.E42K|TCF7_uc003kyy.2_Missense_Mutation_p.E129K|TCF7_uc003kyz.2_Missense_Mutation_p.E129K|TCF7_uc003kza.2_Missense_Mutation_p.E129K|TCF7_uc003kzb.2_Missense_Mutation_p.E58K|TCF7_uc010jdu.2_5'Flank	p.E244K	NM_003202	NP_003193	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	926	+		Breast(839;0.058)	244					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.730G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.029311|5.029311	0.93518|0.93518	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000517851;ENST00000521639;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037;ENST00000517799|ENST00000517855	D;D;D;D;D;D;D;D;D;D;T;D|.	0.99376|.	-5.64;-5.64;-5.65;-5.66;-5.79;-5.68;-5.75;-5.67;-5.63;-5.67;0.11;-5.56|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.101661|.	0.64402|.	D|.	0.000003|.	T|T	0.77974|0.77974	0.4211|0.4211	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	P;D;P;P;P;P|.	0.58268|.	0.7;0.982;0.877;0.608;0.856;0.925|.	B;P;B;B;B;P|.	0.58013|.	0.193;0.831;0.339;0.099;0.193;0.616|.	T|T	0.75531|0.75531	-0.3285|-0.3285	10|5	0.87932|.	D|.	0|.	.|.	19.6516|19.6516	0.95815|0.95815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58;244;244;42;244;244|.	B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.;.;.;.;TCF7_HUMAN;.|.	K|E	244;244;244;244;244;244;160;129;129;129;129;129;129;104;22|32	ENSP00000340347:E244K;ENSP00000326654:E244K;ENSP00000326540:E244K;ENSP00000367827:E244K;ENSP00000378472:E244K;ENSP00000367822:E129K;ENSP00000397946:E129K;ENSP00000429547:E129K;ENSP00000430179:E129K;ENSP00000378469:E129K;ENSP00000429696:E104K;ENSP00000427968:E22K|.	ENSP00000326540:E244K|.	E|G	+|+	1|2	0|0	TCF7|TCF7	133505869|133505869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	9.699000|9.699000	0.98703|0.98703	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.607	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		11	85	0	0	0	0.020292	0	11	85				
KLHL3	26249	broad.mit.edu	37	5	137056262	137056262	+	Missense_Mutation	SNP	C	C	G	rs138386996		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:137056262C>G	ENST00000309755.4	-	2	469	c.26G>C	c.(25-27)aGc>aCc	p.S9T	KLHL3_ENST00000394937.3_Missense_Mutation_p.S9T|KLHL3_ENST00000508657.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	9					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.S9T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGTCTGGGAGCTCAGCTTGAC	0.488																																							uc010jek.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)AGC>ACC		kelch-like 3							130.0	116.0	120.0					5																	137056262		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137056262C>G	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.26G>C	5.37:g.137056262C>G	ENSP00000312397:p.Ser9Thr					MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	p.S9T	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	2	470	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	9					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.26G>C	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194245	0.38806	.	.	ENSG00000146021	ENST00000309755;ENST00000394937	T;T	0.74632	-0.86;-0.53	5.65	3.76	0.43208	.	1.242740	0.05283	N	0.519687	T	0.56529	0.1991	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.20577	0.03	T	0.47724	-0.9095	10	0.36615	T	0.2	.	9.1049	0.36692	0.0:0.7741:0.1471:0.0788	.	9	Q9UH77	KLHL3_HUMAN	T	9	ENSP00000312397:S9T;ENSP00000378395:S9T	ENSP00000312397:S9T	S	-	2	0	KLHL3	137084161	0.586000	0.26782	0.952000	0.39060	0.709000	0.40893	1.129000	0.31381	1.384000	0.46424	0.467000	0.42956	AGC		0.488	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			125	412	0	0	0	0.01441	0	125	412				
PCDHA10	56139	broad.mit.edu	37	5	140236393	140236393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140236393C>T	ENST00000307360.5	+	1	760	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.Q254*|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	254	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q254*(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGAAAATCAAGTGAACCA	0.403																																							uc003lhx.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(760-762)CAA>TAA		protocadherin alpha 10 isoform 1 precursor							92.0	89.0	90.0					5																	140236393		2196	4272	6468	SO:0001587	stop_gained	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236393C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.760C>T	5.37:g.140236393C>T	ENSP00000304234:p.Gln254*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Nonsense_Mutation_p.Q254*|PCDHA10_uc011dad.1_Nonsense_Mutation_p.Q254*	p.Q254*	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	760	+			254			Cadherin 3.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Nonsense_Mutation	SNP	ENST00000307360.5	37	c.760C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528643	0.64860	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	.	.	.	4.29	-0.658	0.11428	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.0804	0.06260	0.123:0.1592:0.4841:0.2338	.	.	.	.	X	254	.	ENSP00000304234:Q254X	Q	+	1	0	PCDHA10	140216577	0.000000	0.05858	0.047000	0.18901	0.812000	0.45895	-5.331000	0.00131	0.066000	0.16515	0.561000	0.74099	CAA		0.403	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		6	65	0	0	0	0.001984	0	6	65				
PCDHB3	56132	broad.mit.edu	37	5	140481829	140481829	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140481829C>T	ENST00000231130.2	+	1	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	532	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G532G(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.672																																							uc003lio.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1594-1596)GGC>GGT		protocadherin beta 3 precursor							62.0	66.0	65.0					5																	140481829		2203	4298	6501	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481829C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1596C>T	5.37:g.140481829C>T						uc003lin.2_5'Flank	p.G532G	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1596	+			532			Extracellular (Potential).|Cadherin 5.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1596C>T	CCDS4245.1																																																																																				0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		8	41	0	0	0	0.006214	0	8	41				
PCDHGA11	56105	broad.mit.edu	37	5	140801351	140801351	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140801351G>A	ENST00000398587.2	+	1	590	c.557G>A	c.(556-558)aGa>aAa	p.R186K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R186K|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	186	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)	p.R186K(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGGGCAGAACGGATGGG	0.542																																							uc003lkq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)AGA>AAA		protocadherin gamma subfamily A, 11 isoform 1							38.0	40.0	39.0					5																	140801351		1955	4156	6111	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801351G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.557G>A	5.37:g.140801351G>A	ENSP00000381589:p.Arg186Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R186K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R186K	p.R186K	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	815	+			186			Extracellular (Potential).|Cadherin 2.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.557G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.253840	0.00268	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.19806	2.12;2.12	6.03	3.17	0.36434	Cadherin (3);Cadherin-like (1);	0.000000	0.28821	U	0.014028	T	0.12008	0.0292	L	0.33668	1.02	0.09310	N	1	B;B;B	0.18610	0.001;0.029;0.004	B;B;B	0.18561	0.004;0.022;0.008	T	0.38908	-0.9639	10	0.06099	T	0.92	.	7.1218	0.25448	0.0701:0.1242:0.6766:0.1291	.	186;186;186	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	K	186	ENSP00000381589:R186K;ENSP00000428333:R186K	ENSP00000381589:R186K	R	+	2	0	PCDHGA11	140781535	0.030000	0.19436	0.000000	0.03702	0.024000	0.10985	2.156000	0.42310	0.370000	0.24538	0.655000	0.94253	AGA		0.542	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	44	0	0	0	0.001168	0	5	44				
PANK3	79646	broad.mit.edu	37	5	167995708	167995708	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:167995708C>G	ENST00000239231.6	-	2	640	c.324G>C	c.(322-324)caG>caC	p.Q108H	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	108					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.Q108H(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATAGCACCGTCTGCAATGTTG	0.398																																							uc003lzz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CAG>CAC		pantothenate kinase 3							114.0	112.0	112.0					5																	167995708		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995708C>G	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.324G>C	5.37:g.167995708C>G	ENSP00000239231:p.Gln108His						p.Q108H	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	624	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	108					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.324G>C	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	7.950	0.744621	0.15710	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99515	-6.06;-6.06	5.81	0.192	0.15134	.	0.086322	0.85682	N	0.000000	D	0.94155	0.8125	N	0.00855	-1.145	0.36101	D	0.844148	B	0.02656	0.0	B	0.01281	0.0	D	0.88142	0.2845	10	0.41790	T	0.15	-1.7189	8.1617	0.31202	0.0692:0.0832:0.5954:0.2523	.	108	Q9H999	PANK3_HUMAN	H	108;93	ENSP00000239231:Q108H;ENSP00000428631:Q93H	ENSP00000239231:Q108H	Q	-	3	2	PANK3	167928286	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	0.877000	0.28106	-0.247000	0.09597	-1.119000	0.02030	CAG		0.398	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		6	93	0	0	0	0.00308	0	6	93				
NUP153	9972	broad.mit.edu	37	6	17632972	17632972	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:17632972G>C	ENST00000262077.2	-	17	2567	c.2568C>G	c.(2566-2568)gaC>gaG	p.D856E	NUP153_ENST00000537253.1_Missense_Mutation_p.D887E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	856					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.D856E(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACAATTCACAGTCCCAGCTTC	0.478																																							uc003ncd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(2566-2568)GAC>GAG		nucleoporin 153kDa							136.0	126.0	129.0					6																	17632972		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17632972G>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2568C>G	6.37:g.17632972G>C	ENSP00000262077:p.Asp856Glu					NUP153_uc011dje.1_Missense_Mutation_p.D887E|NUP153_uc010jpl.1_Missense_Mutation_p.D814E	p.D856E	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		17	2768	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	856			RanBP2-type 4.		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.2568C>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795318	0.16327	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.56941	0.43;0.43	5.58	1.79	0.24919	Zinc finger, RanBP2-type (4);	0.226592	0.30620	N	0.009232	T	0.07999	0.0200	N	0.05124	-0.11	0.45066	D	0.998086	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.15052	0.007;0.012;0.004	T	0.18935	-1.0321	10	0.12103	T	0.63	-5.6841	1.1738	0.01831	0.3019:0.2533:0.3151:0.1297	.	887;836;856	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	E	856;836;887	ENSP00000262077:D856E;ENSP00000444029:D887E	ENSP00000262077:D856E	D	-	3	2	NUP153	17740951	0.849000	0.29639	0.998000	0.56505	0.826000	0.46750	-0.071000	0.11505	0.045000	0.15804	-0.226000	0.12346	GAC		0.478	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			51	601	0	0	0	0.01441	0	51	601				
HIST1H2AA	221613	broad.mit.edu	37	6	25726495	25726495	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:25726495C>T	ENST00000297012.3	-	1	295	c.261G>A	c.(259-261)gcG>gcA	p.A87A	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	87						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A87A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CATTGCGGATCGCTAGCTGCA	0.527																																							uc003nfc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)GCG>GCA		histone cluster 1, H2aa							287.0	242.0	257.0					6																	25726495		2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726495C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.261G>A	6.37:g.25726495C>T						HIST1H2BA_uc003nfd.2_5'Flank	p.A87A	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	296	-			87						Silent	SNP	ENST00000297012.3	37	c.261G>A	CCDS4562.1																																																																																				0.527	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		36	194	0	0	0	0.006999	0	36	194				
ZBED9	114821	broad.mit.edu	37	6	28542753	28542753	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:28542753C>T	ENST00000452236.2	-	3	2346	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.D577N(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTTCAATATCACTACTGTCT	0.373																																							uc003nlo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1729-1731)GAT>AAT		SCAN domain containing 3							67.0	66.0	66.0					6																	28542753		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542753C>T																												ENST00000452236.2:c.1729G>A	6.37:g.28542753C>T	ENSP00000395259:p.Asp577Asn						p.D577N	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2347	-			577						Missense_Mutation	SNP	ENST00000452236.2	37	c.1729G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407981	0.62399	.	.	ENSG00000232040	ENST00000452236	T	0.01998	4.51	3.41	2.53	0.30540	.	.	.	.	.	T	0.00875	0.0029	M	0.61703	1.905	0.24503	N	0.994243	P	0.38473	0.633	B	0.26416	0.069	T	0.48317	-0.9046	9	0.48119	T	0.1	.	6.5036	0.22182	0.0:0.8623:0.0:0.1377	.	577	Q6R2W3	SCND3_HUMAN	N	577	ENSP00000395259:D577N	ENSP00000395259:D577N	D	-	1	0	SCAND3	28650732	0.978000	0.34361	1.000000	0.80357	0.962000	0.63368	1.222000	0.32515	0.771000	0.33359	0.563000	0.77884	GAT		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			8	73	0	0	0	0.004482	0	8	73				
CCHCR1	54535	broad.mit.edu	37	6	31110851	31110851	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:31110851G>A	ENST00000376266.5	-	17	2235	c.2113C>T	c.(2113-2115)Ctt>Ttt	p.L705F	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L794F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L652F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L758F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	705					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L705F(1)|p.L794F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGGGAAGGAAGAACTGTCAAC	0.567																																							uc003nsr.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2113-2115)CTT>TTT		coiled-coil alpha-helical rod protein 1 isoform							210.0	239.0	229.0					6																	31110851		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110851G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2113C>T	6.37:g.31110851G>A	ENSP00000365442:p.Leu705Phe					CCHCR1_uc011dne.1_Missense_Mutation_p.L691F|CCHCR1_uc003nsq.3_Missense_Mutation_p.L758F|CCHCR1_uc003nsp.3_Missense_Mutation_p.L794F	p.L705F	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			17	2236	-			705					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2113C>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340773	0.41498	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.04	3.26	0.37387	.	0.000000	0.43416	D	0.000573	T	0.02342	0.0072	L	0.40543	1.245	0.34288	D	0.682966	B;B;B;B	0.18968	0.003;0.002;0.032;0.015	B;B;B;B	0.20767	0.019;0.012;0.031;0.018	T	0.36286	-0.9754	10	0.33940	T	0.23	-1.8597	6.1888	0.20512	0.0945:0.0:0.7217:0.1839	.	691;705;758;794	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	F	794;705;652;691;758	ENSP00000379566:L794F;ENSP00000365442:L705F;ENSP00000379561:L652F;ENSP00000401039:L758F	ENSP00000365442:L705F	L	-	1	0	CCHCR1	31218830	0.973000	0.33851	0.745000	0.31077	0.239000	0.25481	1.457000	0.35212	0.698000	0.31739	-0.287000	0.09952	CTT		0.567	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		121	320	0	0	0	0.01441	0	121	320				
TCF19	6941	broad.mit.edu	37	6	31129531	31129531	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:31129531C>A	ENST00000376257.3	+	3	1300	c.546C>A	c.(544-546)ctC>ctA	p.L182L	TCF19_ENST00000376255.4_Silent_p.L182L|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	182					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L182L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAGGCAGCCTCAGCAAGCTCC	0.657																																							uc003nss.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CTC>CTA		transcription factor 19							40.0	49.0	46.0					6																	31129531		1277	2542	3819	SO:0001819	synonymous_variant	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129531C>A	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.546C>A	6.37:g.31129531C>A						TCF19_uc003nst.2_Silent_p.L182L	p.L182L	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN			3	1070	+			182					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	ENST00000376257.3	37	c.546C>A	CCDS43446.1																																																																																				0.657	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		5	40	1	0	3.59834e-05	0.001168	3.78318e-05	5	40				
TRERF1	55809	broad.mit.edu	37	6	42224500	42224500	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:42224500A>C	ENST00000372922.4	-	12	3108	c.2546T>G	c.(2545-2547)tTg>tGg	p.L849W	TRERF1_ENST00000340840.2_Missense_Mutation_p.L766W|TRERF1_ENST00000372917.4_Missense_Mutation_p.L766W|TRERF1_ENST00000354325.2_Missense_Mutation_p.L766W|TRERF1_ENST00000541110.1_Missense_Mutation_p.L869W	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	849	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L849W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAGAGTGCAAAGCAAATTC	0.418																																							uc003osd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2545-2547)TTG>TGG		transcriptional regulating factor 1							130.0	123.0	125.0					6																	42224500		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224500A>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2546T>G	6.37:g.42224500A>C	ENSP00000362013:p.Leu849Trp					TRERF1_uc011duq.1_Missense_Mutation_p.L766W|TRERF1_uc003osb.2_Missense_Mutation_p.L605W|TRERF1_uc003osc.2_Missense_Mutation_p.L605W|TRERF1_uc003ose.2_Missense_Mutation_p.L869W	p.L849W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3109	-	Colorectal(47;0.196)		849			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2546T>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.373960	0.61735	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.25912	1.78;1.77;1.85;1.77;1.78	5.74	5.74	0.90152	ELM2 domain (1);	0.000000	0.47852	D	0.000215	T	0.43765	0.1262	M	0.71036	2.16	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.967	D;D;D;D;P	0.85130	0.997;0.993;0.993;0.997;0.88	T	0.42832	-0.9428	10	0.66056	D	0.02	-10.7168	16.3426	0.83092	1.0:0.0:0.0:0.0	.	766;869;849;605;605	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	W	869;766;849;766;766	ENSP00000439689:L869W;ENSP00000362008:L766W;ENSP00000362013:L849W;ENSP00000339438:L766W;ENSP00000346285:L766W	ENSP00000339438:L766W	L	-	2	0	TRERF1	42332478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.007000	0.63984	2.317000	0.78254	0.460000	0.39030	TTG		0.418	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		18	213	0	0	0	0.014323	0	18	213				
FAM83B	222584	broad.mit.edu	37	6	54806253	54806253	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:54806253T>C	ENST00000306858.7	+	5	2600	c.2484T>C	c.(2482-2484)ccT>ccC	p.P828P	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	828								p.P828P(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTCATCTCCTAGAAGAAAGC	0.393																																							uc003pck.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(2482-2484)CCT>CCC		hypothetical protein LOC222584							44.0	42.0	42.0					6																	54806253		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54806253T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2484T>C	6.37:g.54806253T>C							p.P828P	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2600	+	Lung NSC(77;0.0178)|Renal(3;0.122)		828					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2484T>C	CCDS34479.1																																																																																				0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		19	70	0	0	0	0.012319	0	19	70				
COL19A1	1310	broad.mit.edu	37	6	70852699	70852699	+	Missense_Mutation	SNP	C	C	A	rs143251981	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:70852699C>A	ENST00000322773.4	+	23	1715	c.1613C>A	c.(1612-1614)cCg>cAg	p.P538Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.P160Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	538	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P538L(3)|p.P538Q(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGAGGACCGCCAGGAGAT	0.358																																							uc003pfc.1		NA																	4	Substitution - Missense(4)		haematopoietic_and_lymphoid_tissue(3)|lung(1)	ovary(2)|breast(2)	4						c.(1612-1614)CCG>CAG		alpha 1 type XIX collagen precursor							109.0	114.0	113.0					6																	70852699		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70852699C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1613C>A	6.37:g.70852699C>A	ENSP00000316030:p.Pro538Gln					COL19A1_uc010kam.1_Missense_Mutation_p.P434Q	p.P538Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN			23	1730	+			538			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1613C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042799	0.19748	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91011	-2.77;-2.77	5.48	3.72	0.42706	.	0.332562	0.28365	N	0.015602	T	0.80849	0.4702	M	0.73430	2.235	0.31768	N	0.632525	B	0.31193	0.312	B	0.35550	0.205	T	0.69281	-0.5186	10	0.19147	T	0.46	.	5.9307	0.19138	0.1342:0.6484:0.0:0.2174	.	538	Q14993	COJA1_HUMAN	Q	538;160	ENSP00000316030:P538Q;ENSP00000377013:P160Q	ENSP00000316030:P538Q	P	+	2	0	COL19A1	70909420	0.056000	0.20664	0.999000	0.59377	0.382000	0.30200	0.147000	0.16202	0.796000	0.33947	-0.224000	0.12420	CCG		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			24	68	1	0	5.61819e-17	0.005443	6.63378e-17	24	68				
BCLAF1	9774	broad.mit.edu	37	6	136582459	136582459	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:136582459C>T	ENST00000531224.1	-	12	2953	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E852K|BCLAF1_ENST00000031135.9_Missense_Mutation_p.E119K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E899K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E728K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E850K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E850K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	901					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E901K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTCTTCTTCATCTTCAACA	0.368																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2701-2703)GAA>AAA		BCL2-associated transcription factor 1 isoform							244.0	244.0	244.0					6																	136582459		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582459C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2701G>A	6.37:g.136582459C>T	ENSP00000435210:p.Glu901Lys					BCLAF1_uc011edb.1_Missense_Mutation_p.E180K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E728K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E850K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E899K	p.E901K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2954	-	Colorectal(23;0.24)		901					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2701G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991557	0.54041	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.48836	4.32;4.32;4.32;2.38;4.32;0.8;4.32	5.5	5.5	0.81552	.	0.270324	0.31859	N	0.006952	T	0.39860	0.1094	L	0.40543	1.245	0.38681	D	0.952535	P;P;P;P;B	0.49559	0.728;0.925;0.728;0.728;0.275	B;P;B;B;B	0.47162	0.156;0.54;0.201;0.156;0.04	T	0.34428	-0.9829	10	0.54805	T	0.06	-2.7933	19.3961	0.94607	0.0:1.0:0.0:0.0	.	899;180;850;901;728	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	K	901;850;852;728;899;119;850	ENSP00000435210:E901K;ENSP00000229446:E850K;ENSP00000435441:E852K;ENSP00000436501:E728K;ENSP00000434826:E899K;ENSP00000031135:E119K;ENSP00000376159:E850K	ENSP00000031135:E119K	E	-	1	0	BCLAF1	136624152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.092000	0.71414	2.581000	0.87130	0.655000	0.94253	GAA		0.368	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	369	0	0	0	0.00499	0	14	369				
CCDC170	80129	broad.mit.edu	37	6	151859248	151859248	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:151859248G>A	ENST00000239374.7	+	3	354	c.255G>A	c.(253-255)gaG>gaA	p.E85E	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Silent_p.E85E	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	85								p.E85E(1)									CTGAAATGGAGAGCTACAAGG	0.383																																							uc003qol.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)GAG>GAA		hypothetical protein LOC80129							69.0	62.0	64.0					6																	151859248		1837	4102	5939	SO:0001819	synonymous_variant	80129							g.chr6:151859248G>A	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	ENST00000239374.7:c.255G>A	6.37:g.151859248G>A							p.E85E	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	3	344	+		Ovarian(120;0.126)	85			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.255G>A	CCDS43515.1																																																																																				0.383	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		21	187	0	0	0	0.016522	0	21	187				
SYNE1	23345	broad.mit.edu	37	6	152680536	152680536	+	Missense_Mutation	SNP	C	C	A	rs139823841		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:152680536C>A	ENST00000367255.5	-	65	10958	c.10357G>T	c.(10357-10359)Ggg>Tgg	p.G3453W	SYNE1_ENST00000265368.4_Missense_Mutation_p.G3453W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3460W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3460W|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G3453W(2)|p.G3460W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCCAGCCCCTTTGACTTCG	0.468										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16038	0.001		0.0	False		,,,				2504	0.0						uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10357-10359)GGG>TGG		spectrin repeat containing, nuclear envelope 1							158.0	136.0	144.0					6																	152680536		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152680536C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10357G>T	6.37:g.152680536C>A	ENSP00000356224:p.Gly3453Trp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G3460W|SYNE1_uc003qou.3_Missense_Mutation_p.G3453W|SYNE1_uc010kja.1_Missense_Mutation_p.G158W	p.G3453W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	65	10959	-		Ovarian(120;0.0955)	3453			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10357G>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.10	2.733075	0.48939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.06	0.577	0.17385	.	0.336414	0.25225	N	0.032217	T	0.41003	0.1140	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	D;D;D;D	0.73380	0.959;0.959;0.959;0.98	T	0.40079	-0.9582	10	0.87932	D	0	.	6.2278	0.20718	0.0:0.6113:0.1304:0.2583	.	3453;3453;3453;3460	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	W	3453;3460;3453;3460	ENSP00000356224:G3453W;ENSP00000396024:G3460W;ENSP00000265368:G3453W;ENSP00000390975:G3460W	ENSP00000265368:G3453W	G	-	1	0	SYNE1	152722229	1.000000	0.71417	0.947000	0.38551	0.989000	0.77384	1.080000	0.30779	0.155000	0.19261	0.650000	0.86243	GGG		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	107	1	0	1.414e-09	0.017118	1.56151e-09	34	107				
TCP1	6950	broad.mit.edu	37	6	160206484	160206484	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:160206484T>C	ENST00000321394.7	-	5	702	c.422A>G	c.(421-423)gAt>gGt	p.D141G	TCP1_ENST00000544255.1_Intron|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_5'UTR|SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.D141G	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	141					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.D141G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCCAGTTCATCTGTGTTAAC	0.368																																							uc003qsr.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(421-423)GAT>GGT		T-complex protein 1 isoform a							204.0	177.0	186.0					6																	160206484		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160206484T>C	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.422A>G	6.37:g.160206484T>C	ENSP00000317334:p.Asp141Gly					TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Missense_Mutation_p.D141G|TCP1_uc003qst.2_Intron	p.D141G	NM_030752	NP_110379	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	5	657	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	141					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.422A>G	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708530	0.68615	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000538128;ENST00000539948	T;T;D;T	0.88975	-1.3;-1.3;-2.45;-1.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.81341	2.54	0.80722	D	1	B;B	0.28998	0.23;0.075	B;B	0.36244	0.14;0.22	D	0.88777	0.3268	10	0.72032	D	0.01	-30.987	16.3634	0.83296	0.0:0.0:0.0:1.0	.	141;141	E7ERF2;P17987	.;TCPA_HUMAN	G	141;141;21;119	ENSP00000317334:D141G;ENSP00000390159:D141G;ENSP00000442185:D21G;ENSP00000439671:D119G	ENSP00000317334:D141G	D	-	2	0	TCP1	160126474	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.492000	0.81482	2.324000	0.78689	0.533000	0.62120	GAT		0.368	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		46	123	0	0	0	0.01441	0	46	123				
TCP10L2	401285	broad.mit.edu	37	6	167587449	167587449	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:167587449A>G	ENST00000366832.2	+	3	484	c.353A>G	c.(352-354)cAc>cGc	p.H118R		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	118								p.H118R(2)		endometrium(1)|kidney(2)|lung(3)	6						CGAGAATCACACACTCTGGTA	0.572																																							uc010kkp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(352-354)CAC>CGC		t-complex 10-like 2							10.0	22.0	18.0					6																	167587449		659	1581	2240	SO:0001583	missense	401285							g.chr6:167587449A>G		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.353A>G	6.37:g.167587449A>G	ENSP00000355797:p.His118Arg						p.H118R	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			3	484	+			118						Missense_Mutation	SNP	ENST00000366832.2	37	c.353A>G	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	A	5.219	0.225921	0.09916	.	.	ENSG00000166984	ENST00000366832	T	0.15139	2.45	2.53	-0.146	0.13432	.	.	.	.	.	T	0.01870	0.0059	N	0.13043	0.29	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.47995	-0.9073	9	0.09338	T	0.73	.	4.5874	0.12289	0.6595:0.0:0.3405:0.0	.	118	B9ZVM9	TCP2L_HUMAN	R	118	ENSP00000355797:H118R	ENSP00000283507:H118R	H	+	2	0	TCP10L2	167507439	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.019000	0.12546	-0.131000	0.11578	0.352000	0.21897	CAC		0.572	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		12	50	0	0	0	0.017118	0	12	50				
THBS2	7058	broad.mit.edu	37	6	169629774	169629774	+	Splice_Site	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:169629774C>T	ENST00000366787.3	-	15	2401	c.2152G>A	c.(2152-2154)Gat>Aat	p.D718N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	718					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D718N(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGCAGTTATCCTGCAATTGG	0.493																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	2	Substitution - Missense(2)		lung(1)|liver(1)	ovary(5)	5						c.(2152-2154)GAT>AAT		thrombospondin 2 precursor							123.0	111.0	115.0					6																	169629774		2203	4300	6503	SO:0001630	splice_region_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629774C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2152-1G>A	6.37:g.169629774C>T							p.D718N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2400	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	718			TSP type-3 1.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2152G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968003	0.92855	.	.	ENSG00000186340	ENST00000366787	D	0.98835	-5.17	4.4	4.4	0.53042	.	0.000000	0.42420	U	0.000706	D	0.99284	0.9750	M	0.93062	3.375	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.98939	1.0790	10	0.87932	D	0	-36.8397	17.3243	0.87243	0.0:1.0:0.0:0.0	.	718	P35442	TSP2_HUMAN	N	718	ENSP00000355751:D718N	ENSP00000355751:D718N	D	-	1	0	THBS2	169371699	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.190000	0.77755	2.144000	0.66660	0.579000	0.79373	GAT		0.493	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	Missense_Mutation	8	72	0	0	0	0.004482	0	8	72				
SDK1	221935	broad.mit.edu	37	7	4116733	4116733	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:4116733C>A	ENST00000404826.2	+	21	3253	c.3114C>A	c.(3112-3114)ctC>ctA	p.L1038L	SDK1_ENST00000389531.3_Silent_p.L1038L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1038	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L1038L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCTCATCTCTCACCACCTACA	0.567																																							uc003smx.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3112-3114)CTC>CTA		sidekick 1 precursor							161.0	127.0	138.0					7																	4116733		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4116733C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3114C>A	7.37:g.4116733C>A						SDK1_uc010kso.2_Silent_p.L314L	p.L1038L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3253	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1038			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3114C>A	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		12	107	1	0	3.27435e-08	0.020292	3.53953e-08	12	107				
SDK1	221935	broad.mit.edu	37	7	4198173	4198173	+	Silent	SNP	G	G	C	rs375217374		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:4198173G>C	ENST00000404826.2	+	31	4858	c.4719G>C	c.(4717-4719)acG>acC	p.T1573T	SDK1_ENST00000389531.3_Silent_p.T1573T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1573	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T1573T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGTGACCACGCTGCAGGATG	0.602																																							uc003smx.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(4717-4719)ACG>ACC		sidekick 1 precursor							80.0	72.0	75.0					7																	4198173		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4198173G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4719G>C	7.37:g.4198173G>C						SDK1_uc010kso.2_Silent_p.T849T|SDK1_uc003smy.2_Silent_p.T60T	p.T1573T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	31	4858	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1573					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4719G>C	CCDS34590.1																																																																																				0.602	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		20	94	0	0	0	0.008871	0	20	94				
TWISTNB	221830	broad.mit.edu	37	7	19738310	19738310	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:19738310C>T	ENST00000222567.5	-	4	716	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	216					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.E216K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTGCCATTTTCTGTAACTTCT	0.333																																							uc003sup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)GAA>AAA		TWIST neighbor							65.0	74.0	71.0					7																	19738310		2202	4294	6496	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738310C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.646G>A	7.37:g.19738310C>T	ENSP00000222567:p.Glu216Lys						p.E216K	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			4	667	-			216					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.646G>A	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679102	0.47886	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.43	5.43	0.79202	.	0.425559	0.29307	N	0.012535	T	0.47507	0.1449	L	0.50333	1.59	0.43559	D	0.995875	B	0.31125	0.309	B	0.21917	0.037	T	0.45249	-0.9274	9	0.07030	T	0.85	-14.2532	16.7392	0.85454	0.0:1.0:0.0:0.0	.	216	Q3B726	RPA43_HUMAN	K	216	.	ENSP00000222567:E216K	E	-	1	0	TWISTNB	19704835	0.988000	0.35896	1.000000	0.80357	0.709000	0.40893	3.015000	0.49599	2.694000	0.91930	0.484000	0.47621	GAA		0.333	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			8	101	0	0	0	0.006214	0	8	101				
TWISTNB	221830	broad.mit.edu	37	7	19739839	19739839	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:19739839G>C	ENST00000222567.5	-	3	531	c.461C>G	c.(460-462)tCc>tGc	p.S154C		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	154					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.S154C(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTAGGAATGGAGGCATTGAA	0.408																																							uc003sup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(460-462)TCC>TGC		TWIST neighbor							106.0	96.0	99.0					7																	19739839		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19739839G>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.461C>G	7.37:g.19739839G>C	ENSP00000222567:p.Ser154Cys						p.S154C	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			3	482	-			154					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.461C>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245500	0.80024	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.83	5.83	0.93111	.	0.095027	0.64402	D	0.000001	D	0.85212	0.5645	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86128	0.1573	9	0.59425	D	0.04	-12.4832	20.111	0.97911	0.0:0.0:1.0:0.0	.	154	Q3B726	RPA43_HUMAN	C	154	.	ENSP00000222567:S154C	S	-	2	0	TWISTNB	19706364	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.513000	0.60476	2.747000	0.94245	0.650000	0.86243	TCC		0.408	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			39	245	0	0	0	0.011902	0	39	245				
DNAH11	8701	broad.mit.edu	37	7	21630855	21630855	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:21630855C>T	ENST00000409508.3	+	14	2358	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	DNAH11_ENST00000328843.6_Missense_Mutation_p.T776M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	776	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)	p.T776M(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCAAACAGACGCTCCTGGAA	0.448									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2326-2328)ACG>ATG		dynein, axonemal, heavy chain 11							41.0	43.0	43.0					7																	21630855		1882	4100	5982	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21630855C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2327C>T	7.37:g.21630855C>T	ENSP00000475939:p.Thr776Met						p.T776M	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			14	2358	+			776			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2327C>T		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729353	0.69074	.	.	ENSG00000105877	ENST00000328843	T	0.56611	0.45	5.57	3.68	0.42216	Dynein heavy chain, domain-1 (1);	0.169113	0.49916	D	0.000127	T	0.66218	0.2767	.	.	.	0.47819	D	0.999526	D	0.89917	1.0	D	0.67231	0.95	T	0.64867	-0.6306	9	0.39692	T	0.17	.	12.6598	0.56808	0.1274:0.7486:0.124:0.0	.	776	Q96DT5	DYH11_HUMAN	M	776	ENSP00000330671:T776M	ENSP00000330671:T776M	T	+	2	0	DNAH11	21597380	0.950000	0.32346	1.000000	0.80357	0.951000	0.60555	2.109000	0.41863	2.618000	0.88619	0.561000	0.74099	ACG		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	80	0	0	0	0.003163	0	12	80				
HIBADH	11112	broad.mit.edu	37	7	27565834	27565834	+	Nonstop_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:27565834C>A	ENST00000265395.2	-	8	1216	c.1010G>T	c.(1009-1011)tGa>tTa	p.*337L		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	0					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.*337L(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			AGGGCACACTCAGAAGGTCTC	0.488																																							uc003szf.2		NA																	1	Nonstop extension(1)		lung(1)	ovary(2)	2						c.(1009-1011)TGA>TTA		3-hydroxyisobutyrate dehydrogenase precursor	NADH(DB00157)						92.0	70.0	78.0					7																	27565834		2203	4300	6503	SO:0001578	stop_lost	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565834C>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.1010G>T	7.37:g.27565834C>A						HIBADH_uc003szg.2_Nonstop_Mutation_p.*288L|HIBADH_uc003szh.2_Nonstop_Mutation_p.*236L	p.*337L	NM_152740	NP_689953	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1205	-			337					Q546Z2|Q9UDN3	Nonstop_Mutation	SNP	ENST00000265395.2	37	c.1010G>T	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000106049	ENST00000265395	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6785	0.77349	0.0:0.9347:0.0:0.0653	.	.	.	.	L	337	.	.	X	-	2	2	HIBADH	27532359	1.000000	0.71417	0.697000	0.30258	0.895000	0.52256	3.006000	0.49529	1.621000	0.50320	0.650000	0.86243	TGA		0.488	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		20	48	1	0	6.44725e-10	0.014323	7.1714e-10	20	48				
PCLO	27445	broad.mit.edu	37	7	82595703	82595703	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:82595703G>A	ENST00000333891.9	-	4	3738	c.3401C>T	c.(3400-3402)gCa>gTa	p.A1134V	PCLO_ENST00000423517.2_Missense_Mutation_p.A1134V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A1134V(2)|p.A1073V(1)		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						CATAGGAGATGCTTTGGGTCC	0.423																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(3400-3402)GCA>GTA		piccolo isoform 1							122.0	120.0	121.0					7																	82595703		2024	4192	6216	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.chr7:82595703G>A	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.3401C>T	7.37:g.82595703G>A	ENSP00000334319:p.Ala1134Val					PCLO_uc003uhv.2_Missense_Mutation_p.A1134V	p.A1134V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	3690	-			1073						Missense_Mutation	SNP	ENST00000333891.9	37	c.3401C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849339	0.32699	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	5.59	4.71	0.59529	.	.	.	.	.	T	0.15912	0.0383	L	0.32530	0.975	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.17722	0.019;0.019	T	0.02852	-1.1102	9	0.87932	D	0	.	14.7665	0.69642	0.0695:0.0:0.9305:0.0	.	1134;1134	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1073;1134;1134	ENSP00000334319:A1134V;ENSP00000388393:A1134V	ENSP00000334319:A1134V	A	-	2	0	PCLO	82433639	0.974000	0.33945	0.578000	0.28575	0.131000	0.20780	1.771000	0.38542	1.480000	0.48289	0.655000	0.94253	GCA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	166	0	0	0	0.014323	0	20	166				
LRRN3	54674	broad.mit.edu	37	7	110764566	110764566	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:110764566C>T	ENST00000422987.3	+	2	2569	c.1738C>T	c.(1738-1740)Ctt>Ttt	p.L580F	LRRN3_ENST00000308478.5_Missense_Mutation_p.L580F|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L580F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	580	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L580F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTATATAATCTTACTCATCT	0.348																																							uc003vft.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1738-1740)CTT>TTT		leucine rich repeat neuronal 3 precursor							52.0	49.0	50.0					7																	110764566		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764566C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1738C>T	7.37:g.110764566C>T	ENSP00000412417:p.Leu580Phe					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L580F|LRRN3_uc003vfs.3_Missense_Mutation_p.L580F	p.L580F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2784	+			580			Extracellular (Potential).|Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1738C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665771	0.29604	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.60797	0.16;0.16;0.16	6.13	6.13	0.99165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000051	T	0.56485	0.1988	M	0.62723	1.935	0.51482	D	0.999924	B	0.33477	0.413	B	0.36186	0.219	T	0.58945	-0.7546	10	0.62326	D	0.03	.	11.0433	0.47844	0.0:0.8633:0.0:0.1367	.	580	Q9H3W5	LRRN3_HUMAN	F	580	ENSP00000312001:L580F;ENSP00000397312:L580F;ENSP00000412417:L580F	ENSP00000312001:L580F	L	+	1	0	LRRN3	110551802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.467000	0.45093	2.937000	0.99478	0.650000	0.86243	CTT		0.348	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	77	0	0	0	0.001168	0	6	77				
GPR85	54329	broad.mit.edu	37	7	112724255	112724255	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:112724255G>T	ENST00000297146.3	-	3	1125	c.522C>A	c.(520-522)ttC>ttA	p.F174L	GPR85_ENST00000424100.1_Missense_Mutation_p.F174L|GPR85_ENST00000501255.2_Missense_Mutation_p.F174L|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.F174L	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	174					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F174L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGCGGTGTTGGAAGGTGCATT	0.478																																							uc010ljv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(520-522)TTC>TTA		G protein-coupled receptor 85							86.0	77.0	80.0					7																	112724255		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724255G>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.522C>A	7.37:g.112724255G>T	ENSP00000297146:p.Phe174Leu					GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L	p.F174L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1039	-			174			Extracellular (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.522C>A	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	5.503	0.277870	0.10403	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.41	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.046978	0.85682	D	0.000000	T	0.24044	0.0582	L	0.31476	0.935	0.58432	D	0.999995	B	0.28026	0.198	B	0.28011	0.085	T	0.04373	-1.0956	10	0.20519	T	0.43	.	9.3698	0.38248	0.235:0.0:0.765:0.0	.	174	P60893	GPR85_HUMAN	L	174	ENSP00000445808:F174L;ENSP00000297146:F174L;ENSP00000396763:F174L;ENSP00000401178:F174L	ENSP00000297146:F174L	F	-	3	2	GPR85	112511491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.420000	0.44679	2.706000	0.92434	0.650000	0.86243	TTC		0.478	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			14	136	1	0	6.72482e-11	0.003163	7.56235e-11	14	136				
FSCN3	29999	broad.mit.edu	37	7	127234028	127234028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:127234028G>T	ENST00000265825.5	+	1	340	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_Intron|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	41						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A41S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACTGCAACTGCGAAGAGTTT	0.557																																							uc003vmd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)GCG>TCG		fascin 3							98.0	78.0	85.0					7																	127234028		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127234028G>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.121G>T	7.37:g.127234028G>T	ENSP00000265825:p.Ala41Ser					FSCN3_uc003vmc.1_Intron|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.A41S	p.A41S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			1	340	+			41					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.121G>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162046	0.78226	.	.	ENSG00000106328	ENST00000265825	T	0.22539	1.95	5.22	5.22	0.72569	Fascin domain (1);Actin cross-linking (1);	0.000000	0.64402	D	0.000015	T	0.44498	0.1296	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.31530	-0.9940	10	0.54805	T	0.06	-51.3417	14.6152	0.68544	0.0:0.0:1.0:0.0	.	41	Q9NQT6	FSCN3_HUMAN	S	41	ENSP00000265825:A41S	ENSP00000265825:A41S	A	+	1	0	FSCN3	127021264	0.958000	0.32768	0.889000	0.34880	0.813000	0.45954	5.295000	0.65692	2.595000	0.87683	0.561000	0.74099	GCG		0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		6	18	1	0	0.00307968	0.00308	0.00317269	6	18				
ZNF425	155054	broad.mit.edu	37	7	148801601	148801601	+	Silent	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:148801601C>T	ENST00000378061.2	-	4	1494	c.1362G>A	c.(1360-1362)agG>agA	p.R454R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	454					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R454R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCATGGCGTTCCTCCAGAAGA	0.657																																							uc003wfj.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(1360-1362)AGG>AGA		zinc finger protein 425							33.0	34.0	34.0					7																	148801601		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801601C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1362G>A	7.37:g.148801601C>T							p.R454R	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1435	-	Melanoma(164;0.15)		454			C2H2-type 9.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1362G>A	CCDS34773.1																																																																																				0.657	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		4	32	0	0	0	0.009096	0	4	32				
RHEB	6009	broad.mit.edu	37	7	151174480	151174480	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:151174480G>C	ENST00000262187.5	-	4	626	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	72					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Q72E(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAGTATGTCTGAGGAAAGATA	0.338																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	uc003wkh.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(214-216)CAG>GAG		Ras homolog enriched in brain precursor							118.0	125.0	122.0					7																	151174480		2203	4300	6503	SO:0001583	missense	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151174480G>C	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.214C>G	7.37:g.151174480G>C	ENSP00000262187:p.Gln72Glu						p.Q72E	NM_005614	NP_005605	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	4	627	-			72					B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	c.214C>G	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796756	0.31777	.	.	ENSG00000106615	ENST00000262187	T	0.75821	-0.97	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	N	0.17872	0.535	0.80722	D	1	B	0.30686	0.29	B	0.29942	0.109	T	0.61307	-0.7089	10	0.33940	T	0.23	.	17.4247	0.87524	0.0:0.0:1.0:0.0	.	72	Q15382	RHEB_HUMAN	E	72	ENSP00000262187:Q72E	ENSP00000262187:Q72E	Q	-	1	0	RHEB	150805413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	2.340000	0.79590	0.655000	0.94253	CAG		0.338	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		5	151	0	0	0	0.001168	0	5	151				
KMT2C	58508	broad.mit.edu	37	7	151917783	151917783	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:151917783C>G	ENST00000262189.6	-	23	3755	c.3537G>C	c.(3535-3537)ttG>ttC	p.L1179F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L1179F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1179					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L1179F(2)									CTGATTCAGTCAAACACACAC	0.348																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3535-3537)TTG>TTC		myeloid/lymphoid or mixed-lineage leukemia 3							57.0	55.0	56.0					7																	151917783		2203	4297	6500	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151917783C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3537G>C	7.37:g.151917783C>G	ENSP00000262189:p.Leu1179Phe					MLL3_uc003wkz.2_Missense_Mutation_p.L240F	p.L1179F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	23	3756	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1179					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3537G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031422	0.54790	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.96587	-4.05;-4.06	4.54	4.54	0.55810	.	0.000000	0.35349	U	0.003272	D	0.97648	0.9229	M	0.66378	2.025	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.922;0.976	D	0.98581	1.0650	10	0.72032	D	0.01	.	17.6308	0.88106	0.0:1.0:0.0:0.0	.	1179;240	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1179	ENSP00000262189:L1179F;ENSP00000347325:L1179F	ENSP00000262189:L1179F	L	-	3	2	MLL3	151548716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.661000	0.54503	2.209000	0.71365	0.484000	0.47621	TTG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	60	0	0	0	0.006214	0	6	60				
PCM1	5108	broad.mit.edu	37	8	17813044	17813044	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:17813044C>T	ENST00000519253.1	+	10	1605	c.1354C>T	c.(1354-1356)Ccg>Tcg	p.P452S	PCM1_ENST00000524226.1_Missense_Mutation_p.P452S|PCM1_ENST00000325083.8_Missense_Mutation_p.P452S|PCM1_ENST00000518537.1_Missense_Mutation_p.P491S			Q15154	PCM1_HUMAN	pericentriolar material 1	452					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.P452S(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGGCTTGGCACCGGTTGTCAA	0.438			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(1354-1356)CCG>TCG		pericentriolar material 1							85.0	80.0	82.0					8																	17813044		1928	4133	6061	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17813044C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1354C>T	8.37:g.17813044C>T	ENSP00000431099:p.Pro452Ser					PCM1_uc011kyh.1_Missense_Mutation_p.P452S|PCM1_uc003wyj.3_Missense_Mutation_p.P452S|PCM1_uc003wyh.2_Missense_Mutation_p.P491S|PCM1_uc010lta.1_Missense_Mutation_p.P491S	p.P452S	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	10	1776	+			452					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1354C>T		.	.	.	.	.	.	.	.	.	.	C	12.48	1.951215	0.34471	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.21932	3.65;2.73;1.98;3.65;3.41	4.74	-1.14	0.09741	.	0.677016	0.16129	N	0.228262	T	0.09024	0.0223	N	0.22421	0.69	0.34891	D	0.745556	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.13407	0.007;0.009;0.001;0.007	T	0.27739	-1.0065	10	0.18710	T	0.47	-0.0745	0.5987	0.00740	0.2751:0.2991:0.2106:0.2151	.	452;491;452;452	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	S	452;491;491;491;452;452	ENSP00000327077:P452S;ENSP00000428131:P491S;ENSP00000428123:P491S;ENSP00000431099:P452S;ENSP00000430521:P452S	ENSP00000327077:P452S	P	+	1	0	PCM1	17857324	0.068000	0.21057	0.366000	0.25914	0.706000	0.40770	0.257000	0.18369	-0.218000	0.10018	-0.140000	0.14226	CCG		0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		9	75	0	0	0	0.008291	0	9	75				
CSGALNACT1	55790	broad.mit.edu	37	8	19363303	19363303	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:19363303C>A	ENST00000454498.2	-	4	1056	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.V15L|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.V15L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	15					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.V15L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAAACCACCACCCGGGAAATC	0.617																																							uc011kyn.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(43-45)GTG>TTG		chondroitin sulfate							109.0	114.0	112.0					8																	19363303		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19363303C>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.43G>T	8.37:g.19363303C>A	ENSP00000411816:p.Val15Leu					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.V15L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.V14L|CSGALNACT1_uc003wzh.2_RNA	p.V15L	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1107	-			15			Helical; Signal-anchor for type II membrane protein; (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.43G>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083876	0.36758	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.84	4.0	0.46444	.	0.205173	0.41605	N	0.000857	T	0.14356	0.0347	L	0.29908	0.895	0.46749	D	0.999185	B	0.12013	0.005	B	0.12156	0.007	T	0.07947	-1.0746	10	0.02654	T	1	-19.7762	15.6061	0.76672	0.0:0.6107:0.3893:0.0	.	15	Q8TDX6	CGAT1_HUMAN	L	15	ENSP00000411816:V15L;ENSP00000330805:V15L;ENSP00000310891:V15L;ENSP00000429809:V15L;ENSP00000442155:V15L	ENSP00000310891:V15L	V	-	1	0	CSGALNACT1	19407583	0.213000	0.23551	0.205000	0.23548	0.979000	0.70002	0.084000	0.14891	0.779000	0.33543	-0.176000	0.13171	GTG		0.617	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		41	164	1	0	1.35964e-18	0.01441	1.61786e-18	41	164				
ERLIN2	11160	broad.mit.edu	37	8	37607085	37607085	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:37607085G>C	ENST00000276461.5	+	7	500	c.433G>C	c.(433-435)Gat>Cat	p.D145H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D145H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	145					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.D145H(1)		NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGATCAGATTGATGAAAATCT	0.478																																							uc003xke.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GAT>CAT		ER lipid raft associated 2 isoform 1							118.0	118.0	118.0					8																	37607085		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37607085G>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.433G>C	8.37:g.37607085G>C	ENSP00000276461:p.Asp145His					LOC728024_uc010lvx.1_5'Flank	p.D145H	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	548	+		Lung NSC(58;0.174)	145			Lumenal (Potential).		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.433G>C	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693288	0.88735	.	.	ENSG00000147475	ENST00000518526;ENST00000276461;ENST00000521644;ENST00000519638	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.97920	0.9316	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98813	1.0744	10	0.72032	D	0.01	-24.8439	17.3549	0.87333	0.0:0.0:1.0:0.0	.	145	O94905	ERLN2_HUMAN	H	102;145;145;145	ENSP00000429229:D102H;ENSP00000276461:D145H;ENSP00000429621:D145H;ENSP00000428112:D145H	ENSP00000276461:D145H	D	+	1	0	ERLIN2	37726243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.484000	0.97940	2.524000	0.85096	0.655000	0.94253	GAT		0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		16	96	0	0	0	0.007413	0	16	96				
CHRNB3	1142	broad.mit.edu	37	8	42552716	42552716	+	Silent	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:42552716C>A	ENST00000289957.2	+	1	155	c.27C>A	c.(25-27)ctC>ctA	p.L9L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	9					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.L9L(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TGCTGGTTCTCATCGTCCTTG	0.413																																							uc003xpi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(25-27)CTC>CTA		cholinergic receptor, nicotinic, beta							127.0	111.0	116.0					8																	42552716		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42552716C>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.27C>A	8.37:g.42552716C>A							p.L9L	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		1	155	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	9					Q15827	Silent	SNP	ENST00000289957.2	37	c.27C>A	CCDS6134.1																																																																																				0.413	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			16	157	1	0	3.08376e-08	0.01892	3.34528e-08	16	157				
HGSNAT	138050	broad.mit.edu	37	8	43016642	43016642	+	Silent	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:43016642C>G	ENST00000458501.2	+	5	639	c.639C>G	c.(637-639)ctC>ctG	p.L213L	HGSNAT_ENST00000379644.4_Silent_p.L185L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	213					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.L213L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTCTGAGGCTCTTGTTGAGGT	0.438																																							uc003xpx.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(553-555)CTC>CTG		heparan-alpha-glucosaminide N-acetyltransferase							200.0	173.0	181.0					8																	43016642		1959	4140	6099	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43016642C>G		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.639C>G	8.37:g.43016642C>G							p.L185L	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		5	603	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	213			Cytoplasmic (Potential).		B4E2V0	Silent	SNP	ENST00000458501.2	37	c.555C>G																																																																																					0.438	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		27	64	0	0	0	0.021022	0	27	64				
TRPA1	8989	broad.mit.edu	37	8	72967797	72967797	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:72967797T>A	ENST00000262209.4	-	12	1610	c.1403A>T	c.(1402-1404)gAc>gTc	p.D468V	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	468					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.D468V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATCACTTATGTCTTGTAGGAG	0.388																																							uc003xza.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1402-1404)GAC>GTC		ankyrin-like protein 1	Menthol(DB00825)						70.0	71.0	71.0					8																	72967797		2203	4299	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72967797T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1403A>T	8.37:g.72967797T>A	ENSP00000262209:p.Asp468Val						p.D468V	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		12	1578	-			468			ANK 11.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1403A>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086222	0.36855	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64438	-0.1;-0.1	5.27	4.1	0.47936	Ankyrin repeat-containing domain (4);	0.244648	0.48767	D	0.000177	T	0.49830	0.1580	L	0.44542	1.39	0.51767	D	0.999933	P	0.44627	0.839	B	0.41813	0.367	T	0.39292	-0.9621	10	0.25106	T	0.35	-16.465	6.2002	0.20571	0.1421:0.0763:0.0:0.7816	.	468	O75762	TRPA1_HUMAN	V	320;468	ENSP00000428151:D320V;ENSP00000262209:D468V	ENSP00000262209:D468V	D	-	2	0	TRPA1	73130351	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.504000	0.35726	0.833000	0.34828	0.455000	0.32223	GAC		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		56	206	0	0	0	0.01441	0	56	206				
ZFHX4	79776	broad.mit.edu	37	8	77619868	77619868	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:77619868C>G	ENST00000521891.2	+	3	3126	c.2678C>G	c.(2677-2679)tCa>tGa	p.S893*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S867*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S867*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S867*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S893*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGAGCTGTCACCTTATATC	0.502										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2599-2601)TCA>TGA		zinc finger homeodomain 4							62.0	59.0	60.0					8																	77619868		2074	4200	6274	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77619868C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2678C>G	8.37:g.77619868C>G	ENSP00000430497:p.Ser893*	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Nonsense_Mutation_p.S867*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.S893*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S867*	p.S867*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	2987	+			867					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.2600C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	38	6.828008	0.97869	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.18	5.18	0.71444	.	0.000000	0.35615	U	0.003098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	18.8842	0.92368	0.0:1.0:0.0:0.0	.	.	.	.	X	893;893;867;867;867	.	ENSP00000050961:S867X	S	+	2	0	ZFHX4	77782423	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.883000	0.69721	2.705000	0.92388	0.585000	0.79938	TCA		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	81	0	0	0	0.004482	0	7	81				
TMEM67	91147	broad.mit.edu	37	8	94767165	94767165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:94767165G>T	ENST00000453321.3	+	1	81	c.23G>T	c.(22-24)gGg>gTg	p.G8V	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	8					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.G8V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGTGGGGCTGGGGTGGCAATG	0.642																																							uc011lgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(22-24)GGG>GTG		meckelin isoform 1							77.0	83.0	81.0					8																	94767165		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767165G>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.23G>T	8.37:g.94767165G>T	ENSP00000389998:p.Gly8Val					TMEM67_uc010mau.2_Missense_Mutation_p.G8V|TMEM67_uc010mav.2_Missense_Mutation_p.G8V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.G8V|TMEM67_uc003yga.3_Intron	p.G8V	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	94	+	Breast(36;4.14e-07)		8					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.23G>T	CCDS6258.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.677|6.677	0.493513|0.493513	0.12702|0.12702	.|.	.|.	ENSG00000164953|ENSG00000164953	ENST00000453321;ENST00000453906|ENST00000521517	D;D|.	0.97089|.	-4.24;-3.66|.	5.35|5.35	1.28|1.28	0.21552|0.21552	.|.	1.356280|.	0.04306|.	N|.	0.348064|.	T|T	0.19046|0.19046	0.0457|0.0457	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.06405|.	0.0;0.001;0.002|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.06365|.	T|.	0.9|.	4.9896|4.9896	5.5679|5.5679	0.17180|0.17180	0.0743:0.1199:0.557:0.2488|0.0743:0.1199:0.557:0.2488	.|.	8;8;8|.	Q5HYA8;F8WCQ6;E5RH38|.	MKS3_HUMAN;.;.|.	V|C	8|5	ENSP00000389998:G8V;ENSP00000403035:G8V|.	ENSP00000389998:G8V|.	G|W	+|+	2|3	0|0	TMEM67|TMEM67	94836341|94836341	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.539000|-0.539000	0.06113|0.06113	-0.157000|-0.157000	0.11059|0.11059	-1.128000|-1.128000	0.01989|0.01989	GGG|TGG		0.642	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		16	74	1	0	2.49675e-24	0.007291	3.06601e-24	16	74				
RIMS2	9699	broad.mit.edu	37	8	104922405	104922405	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:104922405C>A	ENST00000436393.2	+	3	1243	c.1002C>A	c.(1000-1002)agC>agA	p.S334R	RIMS2_ENST00000507740.1_Missense_Mutation_p.S364R|RIMS2_ENST00000406091.3_Missense_Mutation_p.S556R|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	634					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S364R(2)|p.S334R(1)|p.S556R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGCATAGCAGTGAGGCAT	0.403										HNSCC(12;0.0054)																													uc003yls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1000-1002)AGC>AGA		regulating synaptic membrane exocytosis 2							192.0	183.0	186.0					8																	104922405		1910	4124	6034	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922405C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1002C>A	8.37:g.104922405C>A	ENSP00000390665:p.Ser334Arg	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.S556R|RIMS2_uc003ylw.2_Missense_Mutation_p.S364R|RIMS2_uc003ylq.2_Missense_Mutation_p.S364R|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	p.S334R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1243	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1002C>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.044099	0.55110	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000515551;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19669	2.13;2.61;2.2;2.27;2.22;2.61	5.09	5.09	0.68999	.	.	.	.	.	T	0.24160	0.0585	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31485	0.325;0.277;0.142	B;B;B	0.38985	0.287;0.202;0.134	T	0.08391	-1.0724	9	0.66056	D	0.02	.	18.8726	0.92322	0.0:1.0:0.0:0.0	.	334;364;556	D6RA03;Q9UQ26-3;F8WD47	.;.;.	R	556;587;556;364;364;364;334	ENSP00000427018:S556R;ENSP00000384892:S556R;ENSP00000425205:S364R;ENSP00000423559:S364R;ENSP00000386228:S364R;ENSP00000390665:S334R	ENSP00000332184:S587R	S	+	3	2	RIMS2	104991581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.523000	0.85059	0.650000	0.86243	AGC		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		65	231	1	0	7.427e-35	0.01441	9.34462e-35	65	231				
KLHL38	340359	broad.mit.edu	37	8	124665152	124665152	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:124665152T>C	ENST00000325995.7	-	1	38	c.15A>G	c.(13-15)tcA>tcG	p.S5S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	5								p.S5S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCCATCTAGTGACTCCTCGT	0.522																																							uc003yqs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)TCA>TCG		kelch-like 38							45.0	45.0	45.0					8																	124665152		2124	4239	6363	SO:0001819	synonymous_variant	340359							g.chr8:124665152T>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.15A>G	8.37:g.124665152T>C							p.S5S	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	39	-			5					A0PK12	Silent	SNP	ENST00000325995.7	37	c.15A>G	CCDS43766.1																																																																																				0.522	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			42	221	0	0	0	0.01441	0	42	221				
FAM91A1	157769	broad.mit.edu	37	8	124797966	124797966	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:124797966C>T	ENST00000334705.7	+	11	1193	c.947C>T	c.(946-948)tCc>tTc	p.S316F	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S316F	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	316								p.S316F(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATGTTCCATCCGTAAACAGA	0.294																																							uc003yqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(946-948)TCC>TTC		hypothetical protein LOC157769							64.0	58.0	60.0					8																	124797966		1815	4066	5881	SO:0001583	missense	157769							g.chr8:124797966C>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.947C>T	8.37:g.124797966C>T	ENSP00000335082:p.Ser316Phe					FAM91A1_uc011lik.1_Missense_Mutation_p.S316F|FAM91A1_uc011lil.1_Missense_Mutation_p.S74F	p.S316F	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		11	1008	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		316					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.947C>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972537	0.53614	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.46819	0.86;1.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	L	0.47190	1.495	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66497	0.944;0.944	T	0.54964	-0.8214	10	0.33141	T	0.24	.	20.0496	0.97618	0.0:1.0:0.0:0.0	.	316;316	E7ER68;Q658Y4	.;F91A1_HUMAN	F	316	ENSP00000429491:S316F;ENSP00000335082:S316F	ENSP00000335082:S316F	S	+	2	0	FAM91A1	124867147	1.000000	0.71417	0.982000	0.44146	0.090000	0.18270	5.800000	0.69108	2.816000	0.96949	0.644000	0.83932	TCC		0.294	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		7	115	0	0	0	0.00308	0	7	115				
MTSS1	9788	broad.mit.edu	37	8	125580618	125580618	+	Splice_Site	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:125580618A>G	ENST00000518547.1	-	7	1092		c.e7+1		MTSS1_ENST00000325064.5_Splice_Site|MTSS1_ENST00000354184.4_Splice_Site|MTSS1_ENST00000395508.2_5'Flank|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000524090.1_Splice_Site|MTSS1_ENST00000431961.2_Splice_Site|MTSS1_ENST00000378017.3_Splice_Site	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATTAACTTACAATCACTGG	0.438																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e7+1		metastasis suppressor 1							69.0	62.0	64.0					8																	125580618		2203	4300	6503	SO:0001630	splice_region_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125580618A>G	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.618+1T>C	8.37:g.125580618A>G						NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Intron|MTSS1_uc003yri.2_Splice_Site_p.I6_splice|MTSS1_uc003yrj.2_Splice_Site_p.I206_splice|MTSS1_uc003yrl.2_Splice_Site_p.I210_splice	p.I206_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	1152	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)							J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	37	c.618_splice	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133311	0.77662	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000523179;ENST00000522118	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9844	0.80138	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTSS1	125649799	1.000000	0.71417	0.985000	0.45067	0.869000	0.49853	9.181000	0.94874	2.233000	0.73108	0.533000	0.62120	.		0.438	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Intron	52	187	0	0	0	0.01441	0	52	187				
PHF20L1	51105	broad.mit.edu	37	8	133848837	133848837	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:133848837G>A	ENST00000395386.2	+	16	2261	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Silent_p.L629L|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.L41L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	654							zinc ion binding (GO:0008270)	p.L628L(1)|p.L654L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTTTGCTTCTGAGTGGGGATG	0.343																																							uc003ytt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1960-1962)CTG>CTA		PHD finger protein 20-like 1 isoform 1							145.0	135.0	138.0					8																	133848837		1887	4095	5982	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133848837G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1962G>A	8.37:g.133848837G>A						PHF20L1_uc011lja.1_Silent_p.L628L	p.L654L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		16	2287	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		654					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.1962G>A	CCDS6367.2																																																																																				0.343	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		24	188	0	0	0	0.007291	0	24	188				
PLEC	5339	broad.mit.edu	37	8	144994218	144994218	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:144994218G>A	ENST00000322810.4	-	32	10351	c.10182C>T	c.(10180-10182)atC>atT	p.I3394I	PLEC_ENST00000398774.2_Silent_p.I3225I|PLEC_ENST00000345136.3_Silent_p.I3257I|PLEC_ENST00000357649.2_Silent_p.I3261I|PLEC_ENST00000354958.2_Silent_p.I3235I|PLEC_ENST00000436759.2_Silent_p.I3284I|PLEC_ENST00000527096.1_Silent_p.I3280I|PLEC_ENST00000356346.3_Silent_p.I3243I|PLEC_ENST00000354589.3_Silent_p.I3257I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3394	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.I3284I(1)|p.I3394I(1)|p.I3257I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTCAGAGCTGATGAGCTCCC	0.587																																							uc003zaf.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10180-10182)ATC>ATT		plectin isoform 1							55.0	61.0	59.0					8																	144994218		2159	4248	6407	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994218G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10182C>T	8.37:g.144994218G>A						PLEC_uc003zab.1_Silent_p.I3257I|PLEC_uc003zac.1_Silent_p.I3261I|PLEC_uc003zad.2_Silent_p.I3257I|PLEC_uc003zae.1_Silent_p.I3225I|PLEC_uc003zag.1_Silent_p.I3235I|PLEC_uc003zah.2_Silent_p.I3243I|PLEC_uc003zaj.2_Silent_p.I3284I	p.I3394I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10352	-			3394			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10182C>T	CCDS43772.1																																																																																				0.587	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		11	36	0	0	0	0.016723	0	11	36				
C8orf33	65265	broad.mit.edu	37	8	146278275	146278275	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr8:146278275G>A	ENST00000331434.6	+	2	424	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	104								p.E104K(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CCTAAGCGCTGAGGCCCAGGC	0.602																																							uc003zfc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GAG>AAG		hypothetical protein LOC65265							15.0	17.0	16.0					8																	146278275		2200	4297	6497	SO:0001583	missense	65265							g.chr8:146278275G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.310G>A	8.37:g.146278275G>A	ENSP00000330361:p.Glu104Lys					C8orf33_uc003zfd.2_RNA	p.E104K	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	364	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		104					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.310G>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	35	5.469374	0.96274	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.57	2.57	0.30868	.	4.156380	0.00649	N	0.000542	T	0.75781	0.3896	M	0.72118	2.19	0.38245	D	0.941437	D	0.67145	0.996	D	0.77557	0.99	T	0.65368	-0.6185	8	.	.	.	-0.6301	8.782	0.34798	0.0:0.0:1.0:0.0	.	104	Q9H7E9	CH033_HUMAN	K	104	.	.	E	+	1	0	C8orf33	146249079	0.564000	0.26602	0.756000	0.31282	0.902000	0.53008	1.415000	0.34748	1.732000	0.51606	0.655000	0.94253	GAG		0.602	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		4	11	0	0	0	0.009096	0	4	11				
KIF27	55582	broad.mit.edu	37	9	86502017	86502017	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:86502017C>G	ENST00000297814.2	-	9	2321	c.2178G>C	c.(2176-2178)atG>atC	p.M726I	KIF27_ENST00000376347.1_Missense_Mutation_p.M117I|KIF27_ENST00000413982.1_Missense_Mutation_p.M726I|KIF27_ENST00000334204.2_Missense_Mutation_p.M726I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	726					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M726I(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAAGTTCTCTCATTTTTTGTT	0.284																																							uc004ana.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(2176-2178)ATG>ATC		kinesin family member 27							110.0	102.0	105.0					9																	86502017		2202	4298	6500	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86502017C>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2178G>C	9.37:g.86502017C>G	ENSP00000297814:p.Met726Ile					KIF27_uc010mpw.2_Missense_Mutation_p.M726I|KIF27_uc010mpx.2_Missense_Mutation_p.M726I	p.M726I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			9	2322	-			726			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2178G>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	0.692	-0.794094	0.02862	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.27	3.35	0.38373	.	0.000000	0.64402	D	0.000002	T	0.26882	0.0658	N	0.21448	0.665	0.30609	N	0.759717	B;B;B	0.24576	0.106;0.003;0.001	B;B;B	0.22880	0.042;0.003;0.003	T	0.18650	-1.0330	10	0.05525	T	0.97	.	10.4202	0.44346	0.0:0.8384:0.0:0.1616	.	726;726;726	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	726;726;726;117	ENSP00000297814:M726I;ENSP00000401688:M726I;ENSP00000333928:M726I;ENSP00000365525:M117I	ENSP00000297814:M726I	M	-	3	0	KIF27	85691837	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.747000	0.26290	2.086000	0.62901	0.305000	0.20034	ATG		0.284	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		6	42	0	0	0	0.001168	0	6	42				
RNF20	56254	broad.mit.edu	37	9	104323505	104323505	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:104323505G>C	ENST00000389120.3	+	18	2732	c.2642G>C	c.(2641-2643)cGa>cCa	p.R881P		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	881					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R881P(1)|p.R881Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTTCAAACGAGCCCAGGTA	0.403																																							uc004bbn.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2641-2643)CGA>CCA		ring finger protein 20							139.0	136.0	137.0					9																	104323505		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104323505G>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2642G>C	9.37:g.104323505G>C	ENSP00000373772:p.Arg881Pro						p.R881P	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	18	2732	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	881			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2642G>C	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947155	0.92593	.	.	ENSG00000155827	ENST00000389120	T	0.38401	1.14	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67833	-0.5568	10	0.87932	D	0	-7.4183	19.7564	0.96294	0.0:0.0:1.0:0.0	.	881	Q5VTR2	BRE1A_HUMAN	P	881	ENSP00000373772:R881P	ENSP00000373772:R881P	R	+	2	0	RNF20	103363326	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.229000	0.95273	2.835000	0.97688	0.650000	0.86243	CGA		0.403	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		122	300	0	0	0	0.01441	0	122	300				
NTNG2	84628	broad.mit.edu	37	9	135073529	135073530	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:135073529_135073530CG>AA	ENST00000393229.3	+	3	1166_1167	c.390_391CG>AA	c.(388-393)acCGtg>acAAtg	p.V131M	NTNG2_ENST00000360670.3_Missense_Mutation_p.V131M|NTNG2_ENST00000393228.4_Missense_Mutation_p.V131M|NTNG2_ENST00000372179.3_Missense_Mutation_p.V131M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	131	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.V131M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGAACAAGACCGTGGAGCTGAC	0.639																																							uc004cbh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-393)ACCGTG>ACAATG		netrin G2 precursor																																				SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073529_135073530CG>AA	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	Exception_encountered	9.37:g.135073529_135073530delinsAA	ENSP00000376921:p.Val131Met						p.V131M	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1166_1167	+			131			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	DNP	ENST00000393229.3	37	c.390_391CG>AA	CCDS6946.1																																																																																				0.639	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		6	29	0	0	0	0.004672	0	6	29				
LCN12	286256	broad.mit.edu	37	9	139847406	139847406	+	Silent	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr9:139847406G>A	ENST00000371633.3	+	2	177	c.177G>A	c.(175-177)gcG>gcA	p.A59A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	59					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.A59A(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGCACAGGGCGCTGCTGAACG	0.627																																							uc004ckb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GCG>GCA		lipocalcin 12 precursor							111.0	130.0	124.0					9																	139847406		2168	4262	6430	SO:0001819	synonymous_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847406G>A	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.177G>A	9.37:g.139847406G>A						LCN12_uc004ckc.2_Silent_p.A59A	p.A59A	NM_178536	NP_848631	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	189	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	59					A2AMJ7	Silent	SNP	ENST00000371633.3	37	c.177G>A	CCDS7018.2																																																																																				0.627	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		7	53	0	0	0	0.006214	0	7	53				
KAL1	3730	broad.mit.edu	37	X	8536381	8536381	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:8536381C>T	ENST00000262648.3	-	8	1248	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	367	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D367N(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TAGTCACAGTCTGGCTGGAGT	0.443																																							uc004csf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1099-1101)GAC>AAC		Kallmann syndrome 1 protein precursor							143.0	95.0	111.0					X																	8536381		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536381C>T		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1099G>A	X.37:g.8536381C>T	ENSP00000262648:p.Asp367Asn						p.D367N	NM_000216	NP_000207	P23352	KALM_HUMAN			8	1249	-			367			Fibronectin type-III 2.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1099G>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138446	0.01742	.	.	ENSG00000011201	ENST00000262648	T	0.56941	0.43	3.97	2.92	0.33932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050168	0.85682	D	0.000000	T	0.14270	0.0345	N	0.00823	-1.155	0.29427	N	0.860136	B	0.06786	0.001	B	0.13407	0.009	T	0.34079	-0.9843	10	0.02654	T	1	-28.6724	3.0244	0.06086	0.0:0.4577:0.0:0.5423	.	367	P23352	KALM_HUMAN	N	367	ENSP00000262648:D367N	ENSP00000262648:D367N	D	-	1	0	KAL1	8496381	0.999000	0.42202	0.021000	0.16686	0.152000	0.21847	3.391000	0.52530	1.613000	0.50231	0.600000	0.82982	GAC		0.443	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		25	191	0	0	0	0.007291	0	25	191				
TCEANC	170082	broad.mit.edu	37	X	13680667	13680667	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:13680667A>G	ENST00000380600.1	+	2	127	c.40A>G	c.(40-42)Att>Gtt	p.I14V	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.I14V|TCEANC_ENST00000545566.1_Missense_Mutation_p.I14V|TCEANC_ENST00000314720.4_Missense_Mutation_p.I44V			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	14	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I14V(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTCTTATTGAGCAACT	0.418																																							uc004cvk.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(40-42)ATT>GTT		TFIIS central domain-containing protein 1							118.0	112.0	114.0					X																	13680667		1863	4099	5962	SO:0001583	missense	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13680667A>G		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.40A>G	X.37:g.13680667A>G	ENSP00000369974:p.Ile14Val					TCEANC_uc010nee.1_Missense_Mutation_p.I14V|TCEANC_uc010nef.1_Missense_Mutation_p.I14V|TCEANC_uc010neg.1_Missense_Mutation_p.I44V|TCEANC_uc004cvl.2_RNA	p.I14V	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN			2	270	+			14			TFIIS N-terminal.		A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37	c.40A>G		.	.	.	.	.	.	.	.	.	.	A	6.726	0.502638	0.12822	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.52526	0.66;0.66;0.72;0.66	5.13	3.89	0.44902	Transcription factor IIS, N-terminal (3);	0.082754	0.48286	D	0.000189	T	0.30324	0.0761	N	0.20986	0.625	0.29245	N	0.872356	P;P	0.41393	0.748;0.46	B;B	0.40101	0.319;0.099	T	0.16070	-1.0415	10	0.40728	T	0.16	.	5.8305	0.18579	0.7473:0.1667:0.086:0.0	.	44;14	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	V	14;14;44;14	ENSP00000438952:I14V;ENSP00000440038:I14V;ENSP00000313886:I44V;ENSP00000369974:I14V	ENSP00000313886:I44V	I	+	1	0	TCEANC	13590588	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.466000	0.60148	1.708000	0.51301	0.486000	0.48141	ATT		0.418	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		32	244	0	0	0	0.00623	0	32	244				
CDKL5	6792	broad.mit.edu	37	X	18606111	18606111	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:18606111G>T	ENST00000379989.3	+	10	877	c.592G>T	c.(592-594)Ggc>Tgc	p.G198C	CDKL5_ENST00000379996.3_Missense_Mutation_p.G198C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.G198C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGTCGGTGGGCTGTATTCT	0.408																																							uc004cym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(592-594)GGC>TGC		cyclin-dependent kinase-like 5							184.0	181.0	182.0					X																	18606111		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18606111G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.592G>T	X.37:g.18606111G>T	ENSP00000369325:p.Gly198Cys					CDKL5_uc004cyn.2_Missense_Mutation_p.G198C	p.G198C	NM_003159	NP_003150	O76039	CDKL5_HUMAN			9	845	+	Hepatocellular(33;0.183)		198			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.592G>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901762	0.92035	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	D;D	0.87179	-2.22;-2.22	6.14	6.14	0.99180	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97106	0.9801	10	0.87932	D	0	-22.2654	19.7065	0.96073	0.0:0.0:1.0:0.0	.	198	O76039	CDKL5_HUMAN	C	198	ENSP00000369332:G198C;ENSP00000369325:G198C	ENSP00000369325:G198C	G	+	1	0	CDKL5	18516032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.472000	0.97709	2.611000	0.88343	0.591000	0.81541	GGC		0.408	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		96	589	1	0	2.96273e-59	0.01441	3.75851e-59	96	589				
MAP7D2	256714	broad.mit.edu	37	X	20043822	20043822	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:20043822C>T	ENST00000379651.3	-	8	1151	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	MAP7D2_ENST00000443379.3_Missense_Mutation_p.G333E|MAP7D2_ENST00000452324.3_Missense_Mutation_p.G326E|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Missense_Mutation_p.G263E|MAP7D2_ENST00000379643.5_Missense_Mutation_p.G419E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	378					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.G378E(1)|p.G419E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGCTTTCCCTCCTGCGGCAGC	0.582																																							uc004czr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1132-1134)GGA>GAA		MAP7 domain containing 2							135.0	118.0	124.0					X																	20043822		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20043822C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1133G>A	X.37:g.20043822C>T	ENSP00000368972:p.Gly378Glu					MAP7D2_uc004czq.1_Missense_Mutation_p.G263E|MAP7D2_uc011mji.1_Missense_Mutation_p.G326E|MAP7D2_uc010nfo.1_Missense_Mutation_p.G419E|MAP7D2_uc011mjj.1_Missense_Mutation_p.G333E	p.G378E	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			8	1152	-			378					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1133G>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189623	0.09547	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.78	2.98	0.34508	.	0.630262	0.15281	N	0.270714	T	0.36441	0.0967	L	0.60455	1.87	0.09310	N	1	D;P;D;D;D	0.54964	0.969;0.933;0.961;0.969;0.961	P;P;P;P;P	0.58454	0.839;0.75;0.75;0.839;0.75	T	0.17992	-1.0351	10	0.11182	T	0.66	-4.4309	10.7115	0.45986	0.0:0.6074:0.3926:0.0	.	333;326;419;378;263	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	E	378;419;263;333;326	ENSP00000368972:G378E;ENSP00000368964:G419E;ENSP00000440691:G263E;ENSP00000388239:G333E;ENSP00000413301:G326E	ENSP00000368964:G419E	G	-	2	0	MAP7D2	19953743	0.815000	0.29118	0.067000	0.19924	0.001000	0.01503	1.335000	0.33839	0.519000	0.28406	-0.217000	0.12591	GGA		0.582	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		34	255	0	0	0	0.012213	0	34	255				
IL1RAPL1	11141	broad.mit.edu	37	X	29414538	29414538	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:29414538G>C	ENST00000378993.1	+	4	1199	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E176Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	176	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E176Q(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCAACCAGAGAACCTGAAAT	0.368																																							uc004dby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(526-528)GAA>CAA		interleukin 1 receptor accessory protein-like 1							108.0	105.0	106.0					X																	29414538		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414538G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.526G>C	X.37:g.29414538G>C	ENSP00000368278:p.Glu176Gln						p.E176Q	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			4	1034	+			176			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.526G>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073829	0.36566	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.12774	2.65;2.65	5.26	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.291209	0.39687	N	0.001297	T	0.11922	0.0290	L	0.29908	0.895	0.36072	D	0.84216	B	0.27997	0.197	B	0.26310	0.068	T	0.19321	-1.0309	9	.	.	.	.	17.034	0.86470	0.0:0.0:1.0:0.0	.	176	Q9NZN1	IRPL1_HUMAN	Q	176	ENSP00000368278:E176Q;ENSP00000305200:E176Q	.	E	+	1	0	IL1RAPL1	29324459	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.527000	0.81931	2.318000	0.78349	0.513000	0.50165	GAA		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		32	135	0	0	0	0.00874	0	32	135				
KDM5C	8242	broad.mit.edu	37	X	53245042	53245042	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:53245042G>C	ENST00000375401.3	-	7	1430	c.898C>G	c.(898-900)Cac>Gac	p.H300D	KDM5C_ENST00000452825.3_Missense_Mutation_p.H233D|KDM5C_ENST00000404049.3_Missense_Mutation_p.H299D|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Missense_Mutation_p.H259D|KDM5C_ENST00000375379.3_Missense_Mutation_p.H300D	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	300					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.H233D(1)|p.H300D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTGGGCTGTGACTCAGCTCC	0.552			"""N, F, S"""		clear cell renal carcinoma																																		uc004drz.2		NA		Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(898-900)CAC>GAC		jumonji, AT rich interactive domain 1C isoform							249.0	177.0	201.0					X																	53245042		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53245042G>C	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.898C>G	X.37:g.53245042G>C	ENSP00000364550:p.His300Asp					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.H233D|KDM5C_uc004dsa.2_Missense_Mutation_p.H299D	p.H300D	NM_004187	NP_004178	P41229	KDM5C_HUMAN			7	1431	-			300					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.898C>G	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678032	0.29783	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.85955	-2.05;-1.75;-1.75;-1.75;-1.88	5.25	5.25	0.73442	.	0.499098	0.22467	N	0.059668	T	0.81133	0.4759	L	0.46157	1.445	0.30822	N	0.737671	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.75684	-0.3232	10	0.27785	T	0.31	-18.6699	15.2151	0.73258	0.0:0.0:1.0:0.0	.	233;299;300	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	D	233;300;299;300;259	ENSP00000445176:H233D;ENSP00000364550:H300D;ENSP00000385394:H299D;ENSP00000364528:H300D;ENSP00000364532:H259D	ENSP00000364528:H300D	H	-	1	0	KDM5C	53261767	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.283000	0.72646	2.182000	0.69389	0.529000	0.55759	CAC		0.552	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		34	139	0	0	0	0.021022	0	34	139				
OPHN1	4983	broad.mit.edu	37	X	67518843	67518843	+	Splice_Site	SNP	C	C	A	rs398123687		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:67518843C>A	ENST00000355520.5	-	3	891	c.250G>T	c.(250-252)Gct>Tct	p.A84S	OPHN1_ENST00000540071.1_Splice_Site_p.A84S	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	84					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.A84S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAGACTTACCGATGTTAATT	0.413																																							uc004dww.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(250-252)GCT>TCT		oligophrenin 1							108.0	91.0	97.0					X																	67518843		2203	4300	6503	SO:0001630	splice_region_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67518843C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.250+1G>T	X.37:g.67518843C>A						OPHN1_uc011mpg.1_Missense_Mutation_p.A84S|OPHN1_uc004dwx.2_Missense_Mutation_p.A84S	p.A84S	NM_002547	NP_002538	O60890	OPHN1_HUMAN			3	544	-			84					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.250G>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006182	0.74932	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.38077	1.16;1.16	4.97	4.97	0.65823	IRSp53/MIM homology domain (IMD) (1);	0.115003	0.64402	D	0.000018	T	0.46718	0.1407	L	0.52759	1.655	0.80722	D	1	P;P;D	0.53885	0.888;0.955;0.963	P;P;P	0.55222	0.709;0.771;0.541	T	0.31420	-0.9944	9	.	.	.	.	14.6484	0.68777	0.0:1.0:0.0:0.0	.	84;84;84	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	S	84	ENSP00000347710:A84S;ENSP00000438617:A84S	.	A	-	1	0	OPHN1	67435568	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.586000	0.74067	2.429000	0.82318	0.513000	0.50165	GCT		0.413	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	Missense_Mutation	34	159	1	0	1.47197e-15	0.007835	1.71172e-15	34	159				
P2RY4	5030	broad.mit.edu	37	X	69478529	69478529	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:69478529G>C	ENST00000374519.2	-	1	1125	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	316					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.Q316E(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TGACGGAGCTGACGTCGATAT	0.607																																							uc004dxz.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(946-948)CAG>GAG		pyrimidinergic receptor P2Y4							49.0	41.0	44.0					X																	69478529		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478529G>C	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.946C>G	X.37:g.69478529G>C	ENSP00000363643:p.Gln316Glu						p.Q316E	NM_002565	NP_002556	P51582	P2RY4_HUMAN			1	1126	-			316			Cytoplasmic (Potential).		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.946C>G	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189254	0.21954	.	.	ENSG00000186912	ENST00000374519	T	0.20463	2.07	4.7	4.7	0.59300	.	0.200159	0.39759	U	0.001278	T	0.09512	0.0234	N	0.08118	0	0.28390	N	0.919114	B	0.16802	0.019	B	0.15870	0.014	T	0.21965	-1.0230	10	0.08381	T	0.77	.	11.0539	0.47907	0.0:0.0:0.8149:0.1851	.	316	P51582	P2RY4_HUMAN	E	316	ENSP00000363643:Q316E	ENSP00000363643:Q316E	Q	-	1	0	P2RY4	69395254	0.853000	0.29707	0.363000	0.25875	0.834000	0.47266	1.218000	0.32467	2.169000	0.68431	0.589000	0.80489	CAG		0.607	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		11	63	0	0	0	0.010729	0	11	63				
DACH2	117154	broad.mit.edu	37	X	86067861	86067861	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:86067861G>A	ENST00000373125.4	+	8	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	DACH2_ENST00000508860.1_Missense_Mutation_p.E248K|DACH2_ENST00000510272.1_Missense_Mutation_p.E196K|DACH2_ENST00000373131.1_Missense_Mutation_p.E402K	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	415					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E415K(1)|p.E402K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTTTGCAGAAGAGGTACCAGT	0.408																																							uc004eew.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1243-1245)GAG>AAG		dachshund 2 isoform a							65.0	59.0	61.0					X																	86067861		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067861G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1243G>A	X.37:g.86067861G>A	ENSP00000362217:p.Glu415Lys					DACH2_uc004eex.2_Missense_Mutation_p.E402K|DACH2_uc010nmq.2_Missense_Mutation_p.E281K|DACH2_uc011mra.1_Missense_Mutation_p.E248K|DACH2_uc010nmr.2_Missense_Mutation_p.E196K|DACH2_uc004eey.2_Missense_Mutation_p.E98K|DACH2_uc004eez.2_Missense_Mutation_p.E98K	p.E415K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1413	+			415					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1243G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721015	0.68959	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.83591	-1.74;-1.73	4.75	4.75	0.60458	.	0.085146	0.48286	D	0.000183	T	0.80105	0.4562	L	0.57536	1.79	0.58432	D	0.999996	B;P;P;P	0.40970	0.365;0.506;0.734;0.671	B;B;B;B	0.35655	0.14;0.14;0.203;0.207	T	0.82096	-0.0626	10	0.48119	T	0.1	.	17.0265	0.86448	0.0:0.0:1.0:0.0	.	281;415;402;415	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	K	415;402;415;248;196;248;70	ENSP00000362223:E402K;ENSP00000362217:E415K	ENSP00000345134:E415K	E	+	1	0	DACH2	85954517	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.017000	0.57167	1.938000	0.56188	0.513000	0.50165	GAG		0.408	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	85	0	0	0	0.013537	0	8	85				
CENPI	2491	broad.mit.edu	37	X	100382593	100382593	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:100382593C>T	ENST00000372927.1	+	10	1290	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L|CENPI_ENST00000218507.5_Missense_Mutation_p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	338					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S338L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGTGGATCATTTCCACTA	0.378																																							uc004egx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1012-1014)TCA>TTA		centromere protein I							117.0	109.0	112.0					X																	100382593		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382593C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1013C>T	X.37:g.100382593C>T	ENSP00000362018:p.Ser338Leu					CENPI_uc011mrg.1_Missense_Mutation_p.S338L|CENPI_uc004egy.2_Missense_Mutation_p.S338L	p.S338L	NM_006733	NP_006724	Q92674	CENPI_HUMAN			10	1283	+			338					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1013C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	8.544	0.874039	0.17395	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	4.54	0.55810	.	0.644562	0.16760	N	0.200667	T	0.46112	0.1376	M	0.70595	2.14	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.17098	0.017;0.017	T	0.35649	-0.9780	9	0.23302	T	0.38	-1.1598	10.8434	0.46728	0.0:0.844:0.0:0.156	.	338;338	B4DZL4;Q92674	.;CENPI_HUMAN	L	338	.	ENSP00000218507:S338L	S	+	2	0	CENPI	100269249	0.000000	0.05858	0.063000	0.19743	0.216000	0.24613	0.450000	0.21762	1.170000	0.42753	0.594000	0.82650	TCA		0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		31	150	0	0	0	0.010818	0	31	150				
MUM1L1	139221	broad.mit.edu	37	X	105450161	105450161	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:105450161G>C	ENST00000357175.2	+	4	1385	c.736G>C	c.(736-738)Gat>Cat	p.D246H	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D246H|MUM1L1_ENST00000337685.2_Missense_Mutation_p.D246H	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	246						extracellular vesicular exosome (GO:0070062)		p.D246H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGTCATCAGATATGCTCAT	0.433																																							uc004emf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(736-738)GAT>CAT		melanoma associated antigen (mutated) 1-like 1							73.0	65.0	67.0					X																	105450161		1934	4117	6051	SO:0001583	missense	139221							g.chrX:105450161G>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.736G>C	X.37:g.105450161G>C	ENSP00000349699:p.Asp246His					MUM1L1_uc004emg.1_Missense_Mutation_p.D246H	p.D246H	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1385	+			246					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.736G>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530425	0.45073	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.23348	1.91;1.91;1.91	4.63	3.74	0.42951	.	0.592925	0.15060	N	0.282810	T	0.42108	0.1188	L	0.57536	1.79	0.19575	N	0.999962	D	0.71674	0.998	D	0.65443	0.935	T	0.13683	-1.0500	10	0.42905	T	0.14	-43.4304	9.523	0.39147	0.0:0.0:0.7888:0.2112	.	246	Q5H9M0	MUML1_HUMAN	H	246	ENSP00000349699:D246H;ENSP00000338641:D246H;ENSP00000361632:D246H	ENSP00000338641:D246H	D	+	1	0	MUM1L1	105336817	0.316000	0.24580	0.492000	0.27490	0.096000	0.18686	1.420000	0.34804	0.998000	0.38996	0.600000	0.82982	GAT		0.433	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		12	104	0	0	0	0.013537	0	12	104				
CLDN2	9075	broad.mit.edu	37	X	106144762	106144762	+	Intron	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:106144762C>G	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Intron|RIPPLY1_ENST00000276173.4_Missense_Mutation_p.G80R	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G80R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTTGCCCCACCAGCAGCCTGT	0.488																																							uc004emr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GGT>CGT		ripply1 homolog							84.0	85.0	85.0					X																	106144762		2018	4173	6191	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106144762C>G	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1028C>G	X.37:g.106144762C>G						MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Intron	p.G80R	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN			3	282	-			80					B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.238G>C	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562999	0.13498	.	.	ENSG00000147223	ENST00000276173	.	.	.	5.11	1.06	0.20224	.	1.143340	0.06460	N	0.729335	T	0.40119	0.1104	L	0.53249	1.67	0.09310	N	1	P	0.35908	0.527	B	0.43783	0.431	T	0.29971	-0.9994	9	0.19147	T	0.46	.	2.1357	0.03761	0.1558:0.5105:0.1491:0.1846	.	80	Q0D2K3	RIPP1_HUMAN	R	80	.	ENSP00000276173:G80R	G	-	1	0	RIPPLY1	106031418	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.072000	0.14617	-0.050000	0.13356	-0.190000	0.12839	GGT		0.488	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			32	464	0	0	0	0.013114	0	32	464				
MAGEC1	9947	broad.mit.edu	37	X	140995615	140995615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:140995615C>G	ENST00000285879.4	+	4	2711	c.2425C>G	c.(2425-2427)Cct>Gct	p.P809A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	809								p.P809A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCAGTCTCCTCTCCAGAG	0.557										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2425-2427)CCT>GCT		melanoma antigen family C, 1							137.0	144.0	142.0					X																	140995615		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995615C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2425C>G	X.37:g.140995615C>G	ENSP00000285879:p.Pro809Ala	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P809A	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2711	+	Acute lymphoblastic leukemia(192;6.56e-05)		809					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2425C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	11.79	1.742692	0.30865	.	.	ENSG00000155495	ENST00000285879	T	0.02103	4.45	1.52	1.52	0.23074	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.19300	N	0.999972	P	0.42584	0.784	B	0.28638	0.092	T	0.52946	-0.8507	9	0.26408	T	0.33	.	8.8434	0.35155	0.0:1.0:0.0:0.0	.	809	O60732	MAGC1_HUMAN	A	809	ENSP00000285879:P809A	ENSP00000285879:P809A	P	+	1	0	MAGEC1	140823281	0.003000	0.15002	0.005000	0.12908	0.015000	0.08874	0.448000	0.21726	0.696000	0.31696	0.284000	0.19432	CCT		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		91	234	0	0	0	0.01441	0	91	234				
SLITRK2	84631	broad.mit.edu	37	X	144905709	144905709	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:144905709T>A	ENST00000370490.1	+	1	6021	c.1766T>A	c.(1765-1767)gTc>gAc	p.V589D	SLITRK2_ENST00000413937.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V589D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V589D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	589					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.V589D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAACCGTCTTGTCAATG	0.468																																							uc004fcd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1765-1767)GTC>GAC		SLIT and NTRK-like family, member 2 precursor							85.0	66.0	73.0					X																	144905709		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905709T>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1766T>A	X.37:g.144905709T>A	ENSP00000359521:p.Val589Asp					SLITRK2_uc010nsp.2_Missense_Mutation_p.V589D|SLITRK2_uc010nso.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwq.1_Missense_Mutation_p.V589D|SLITRK2_uc011mwr.1_Missense_Mutation_p.V589D|SLITRK2_uc011mws.1_Missense_Mutation_p.V589D|SLITRK2_uc004fcg.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwt.1_Missense_Mutation_p.V589D	p.V589D	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2756	+	Acute lymphoblastic leukemia(192;6.56e-05)		589			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1766T>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	3.227	-0.158199	0.06544	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52983	0.69;0.64;0.64;0.64;0.64;0.64	5.51	3.13	0.36017	.	1.261270	0.05226	N	0.509366	T	0.40196	0.1107	L	0.34521	1.04	0.09310	N	1	B	0.20052	0.041	B	0.25140	0.058	T	0.35895	-0.9770	10	0.56958	D	0.05	-0.11	5.9482	0.19232	0.0:0.0901:0.1775:0.7324	.	589	Q9H156	SLIK2_HUMAN	D	589	ENSP00000334374:V589D;ENSP00000411681:V589D;ENSP00000359521:V589D;ENSP00000397015:V589D;ENSP00000407347:V589D;ENSP00000412010:V589D	ENSP00000334374:V589D	V	+	2	0	SLITRK2	144713401	0.166000	0.22962	0.001000	0.08648	0.419000	0.31324	2.664000	0.46783	0.248000	0.21435	0.486000	0.48141	GTC		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		8	62	0	0	0	0.004482	0	8	62				
MAGEA8	4107	broad.mit.edu	37	X	149013937	149013937	+	Silent	SNP	T	T	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:149013937T>C	ENST00000542674.1	+	3	1412	c.891T>C	c.(889-891)aaT>aaC	p.N297N	MAGEA8_ENST00000535454.1_Silent_p.N297N|MAGEA8_ENST00000286482.1_Silent_p.N297N	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	297	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.N297N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGTCAATGCAAGAGTTC	0.567																																							uc004fdw.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)AAT>AAC		melanoma antigen family A, 8							117.0	109.0	112.0					X																	149013937		2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013937T>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.891T>C	X.37:g.149013937T>C							p.N297N	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	1106	+	Acute lymphoblastic leukemia(192;6.56e-05)		297			MAGE.		Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.891T>C	CCDS14692.1																																																																																				0.567	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		7	303	0	0	0	0.008291	0	7	303				
PNCK	139728	broad.mit.edu	37	X	152937028	152937028	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:152937028C>T	ENST00000370150.1	-	6	692	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.A172T|PNCK_ENST00000370145.4_Missense_Mutation_p.A189T|PNCK_ENST00000447676.2_Missense_Mutation_p.A255T|PNCK_ENST00000393831.2_Missense_Mutation_p.A172T|PNCK_ENST00000370142.1_Missense_Mutation_p.A172T			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A189T(1)|p.A172T(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCACAGGCGGTGCCTAGC	0.602																																							uc011myu.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(763-765)GCC>ACC		pregnancy upregulated non-ubiquitously expressed							101.0	97.0	98.0					X																	152937028		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937028C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.514G>A	X.37:g.152937028C>T	ENSP00000359169:p.Ala172Thr					PNCK_uc011myt.1_Missense_Mutation_p.A189T|PNCK_uc004fia.2_Missense_Mutation_p.A184T|PNCK_uc004fhz.3_Missense_Mutation_p.A70T|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.A199T|PNCK_uc011myw.1_Missense_Mutation_p.A199T	p.A255T	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			6	949	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		172			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.763G>A		.	.	.	.	.	.	.	.	.	.	c	21.5	4.163920	0.78226	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000039	T	0.36276	0.0961	N	0.21545	0.675	0.80722	D	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;0.999	T	0.10965	-1.0607	10	0.28530	T	0.3	-21.02	15.9203	0.79562	0.0:1.0:0.0:0.0	.	199;255;189;172	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	T	172;172;172;172;189;255;172;172	ENSP00000340586:A172T;ENSP00000359169:A172T;ENSP00000377417:A172T;ENSP00000359161:A172T;ENSP00000359164:A189T;ENSP00000405950:A255T;ENSP00000415770:A172T;ENSP00000391772:A172T	ENSP00000340586:A172T	A	-	1	0	PNCK	152590222	1.000000	0.71417	0.621000	0.29145	0.338000	0.28826	7.586000	0.82596	2.005000	0.58758	0.529000	0.55759	GCC		0.602	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		11	61	0	0	0	0.003163	0	11	61				
KCNQ4	9132	broad.mit.edu	37	1	41289922	41289923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:41289922_41289923insG	ENST00000347132.5	+	9	1366_1367	c.1284_1285insG	c.(1285-1287)gggfs	p.G429fs	KCNQ4_ENST00000509682.2_Intron|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	429					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCTTCTGCCCTGGGGAAAGGTA	0.678																																							uc001cgh.1		NA																	0				central_nervous_system(1)	1						c.(1282-1287)CCTGGGfs		potassium voltage-gated channel KQT-like protein																																				SO:0001589	frameshift_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41289922_41289923insG	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1288dupG	1.37:g.41289926_41289926dupG	ENSP00000262916:p.Gly429fs					KCNQ4_uc001cgi.1_Intron	p.P428fs	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		9	1366_1367	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	428_429			Cytoplasmic.		O96025	Frame_Shift_Ins	INS	ENST00000347132.5	37	c.1284_1285insG	CCDS456.1																																																																																				0.678	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155734980	155734981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:155734980_155734981insG	ENST00000368331.1	-	21	4331_4332	c.4283_4284insC	c.(4282-4284)ccafs	p.P1428fs	GON4L_ENST00000361040.5_Frame_Shift_Ins_p.P1428fs|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Ins_p.P1428fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.P1428fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					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)					CTGGCTTCCCTGGGGGGCTACT	0.515																																							uc001flz.2		NA																	0				ovary(3)	3						c.(4282-4284)CCAfs		gon-4-like isoform a																																				SO:0001589	frameshift_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734980_155734981insG	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.4284dupC	1.37:g.155734986_155734986dupG	ENSP00000357315:p.Pro1428fs					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc009wrh.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fma.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fmb.3_Frame_Shift_Ins_p.P624fs|GON4L_uc001fmc.2_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fmd.3_Frame_Shift_Ins_p.P1428fs|GON4L_uc009wri.2_Frame_Shift_Ins_p.P1014fs	p.P1428fs	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			21	4380_4381	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1428					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Ins	INS	ENST00000368331.1	37	c.4283_4284insC																																																																																					0.515	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		7	251	NA	NA	NA	NA	NA	7	251	---	---	---	---
TEX35	84066	broad.mit.edu	37	1	178489899	178489899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr1:178489899delG	ENST00000319416.2	+	7	545	c.433delG	c.(433-435)ggafs	p.G145fs	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_Frame_Shift_Del_p.G145fs|TEX35_ENST00000367643.3_Frame_Shift_Del_p.G145fs|TEX35_ENST00000258298.2_Frame_Shift_Del_p.G69fs|TEX35_ENST00000367639.1_Frame_Shift_Del_p.G153fs	NM_032126.4	NP_115502.2			testis expressed 35																		GAAAATGGATGGAGCCAGTGG	0.532																																							uc001glt.1		NA																	0					0						c.(433-435)GGAfs		hypothetical protein LOC84066							76.0	74.0	75.0					1																	178489899		2203	4300	6503	SO:0001589	frameshift_variant	84066					microtubule cytoskeleton		g.chr1:178489899delG	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.433delG	1.37:g.178489899delG	ENSP00000323795:p.Gly145fs					C1orf49_uc001glu.1_Frame_Shift_Del_p.G145fs|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Frame_Shift_Del_p.G153fs	p.G145fs	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			7	545	+			145						Frame_Shift_Del	DEL	ENST00000319416.2	37	c.433delG	CCDS1323.1																																																																																				0.532	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		45	321	NA	NA	NA	NA	NA	45	321	---	---	---	---
PROSER2	254427	broad.mit.edu	37	10	11911725	11911726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:11911725_11911726insA	ENST00000277570.5	+	4	782_783	c.628_629insA	c.(628-630)gccfs	p.A210fs	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Frame_Shift_Ins_p.A14fs	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	210	Pro-rich.																GGGGAACGAAGCCCTCTCGCCC	0.738																																							uc001ikx.2		NA																	0				central_nervous_system(1)	1						c.(628-630)GCCfs		hypothetical protein LOC254427																																				SO:0001589	frameshift_variant	254427							g.chr10:11911725_11911726insA	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	Exception_encountered	10.37:g.11911725_11911726insA	ENSP00000277570:p.Ala210fs					uc001iky.1_Intron	p.A210fs	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			4	782_783	+			210			Pro-rich.		D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Ins	INS	ENST00000277570.5	37	c.628_629insA	CCDS7085.1																																																																																				0.738	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		3	5	NA	NA	NA	NA	NA	3	5	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48414131	48414131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr10:48414131delG	ENST00000249598.1	-	2	896	c.737delC	c.(736-738)ccafs	p.P246fs		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	246					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTGGAACCTGGGGGGACACT	0.567																																							uc001jfa.1		NA																	0				ovary(2)|skin(1)	3						c.(736-738)CCAfs		growth differentiation factor 2 precursor							75.0	71.0	73.0					10																	48414131		2203	4300	6503	SO:0001589	frameshift_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414131delG	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.737delC	10.37:g.48414131delG	ENSP00000249598:p.Pro246fs						p.P246fs	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	900	-			246					Q5VSQ9|Q9Y571	Frame_Shift_Del	DEL	ENST00000249598.1	37	c.737delC	CCDS7219.1																																																																																				0.567	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		7	26	NA	NA	NA	NA	NA	7	26	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20874949	20874949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:20874949delG	ENST00000266509.2	+	8	1355	c.987delG	c.(985-987)cagfs	p.Q329fs	SLCO1C1_ENST00000540354.1_Frame_Shift_Del_p.Q280fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Del_p.Q211fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Del_p.Q329fs|SLCO1C1_ENST00000381552.1_Frame_Shift_Del_p.Q329fs	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	329					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)	AAACACCCCAGGGAGAAAATG	0.343																																							uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(985-987)CAGfs		solute carrier organic anion transporter family,							44.0	47.0	46.0					12																	20874949		2197	4298	6495	SO:0001589	frameshift_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874949delG	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.987delG	12.37:g.20874949delG	ENSP00000266509:p.Gln329fs					SLCO1C1_uc010sii.1_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc010sij.1_Frame_Shift_Del_p.Q280fs|SLCO1C1_uc009zip.2_Frame_Shift_Del_p.Q163fs|SLCO1C1_uc001rei.2_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc010sik.1_Frame_Shift_Del_p.Q211fs	p.Q329fs	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1342	+	Esophageal squamous(101;0.149)		329			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Frame_Shift_Del	DEL	ENST00000266509.2	37	c.987delG	CCDS8683.1																																																																																				0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		34	46	NA	NA	NA	NA	NA	34	46	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cctfs	p.P144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.P130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624																																					GBM(14;268 426 18829 21617 25540)	GBM(14;268 426 18829 21617 25540)	uc001try.3		NA																	0				ovary(1)	1						c.(430-432)CCTfs		slow cardiac myosin regulatory light chain 2																																				SO:0001589	frameshift_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348950_111348951insG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.432dupC	12.37:g.111348956_111348956dupG	ENSP00000228841:p.Pro144fs					MYL2_uc001trx.3_Frame_Shift_Ins_p.P125fs	p.P144fs	NM_000432	NP_000423	P10916	MLRV_HUMAN			7	502_503	-			144			EF-hand 3.		Q16123	Frame_Shift_Ins	INS	ENST00000228841.8	37	c.431_432insC	CCDS31901.1																																																																																				0.624	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		7	643	NA	NA	NA	NA	NA	7	643	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42407556	42407560	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	GCAGG	GCAGG	-	-	GCAGG	GCAGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr13:42407556_42407560delGCAGG	ENST00000379310.3	-	13	1601_1605	c.1533_1537delCCTGC	c.(1531-1539)gtcctgctgfs	p.LL512fs	VWA8_ENST00000281496.6_Frame_Shift_Del_p.LL512fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	512						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATGCCATCCAGCAGGACCAGCTTGC	0.546																																							uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1531-1539)GTCCTGCTGfs		hypothetical protein LOC23078 isoform a																																				SO:0001589	frameshift_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42407556_42407560delGCAGG	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1533_1537delCCTGC	13.37:g.42407556_42407560delGCAGG	ENSP00000368612:p.Leu512fs					KIAA0564_uc001uyk.2_Frame_Shift_Del_p.V511fs	p.V511fs	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	13	1603_1607	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	511_513					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL	ENST00000379310.3	37	c.1533_1537delCCTGC	CCDS41881.1																																																																																				0.546	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	259	NA	NA	NA	NA	NA	10	259	---	---	---	---
C14orf180	400258	broad.mit.edu	37	14	105054102	105054103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr14:105054102_105054103insC	ENST00000557649.1	+	3	464_465	c.128_129insC	c.(127-132)tgccccfs	p.CP43fs	C14orf180_ENST00000331952.2_Frame_Shift_Ins_p.CP43fs|RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000410013.1_Frame_Shift_Ins_p.CP43fs			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AACAGGAAGTGCCCCCCCTCCA	0.703																																							uc001yow.1		NA																	0					0						c.(127-129)TGCfs		hypothetical protein LOC400258																																				SO:0001589	frameshift_variant	400258					integral to membrane		g.chr14:105054102_105054103insC		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.135dupC	14.37:g.105054109_105054109dupC	ENSP00000452502:p.Cys43fs					C14orf180_uc010tyh.1_Frame_Shift_Ins_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Ins_p.C43fs	p.C43fs	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)	3	429_430	+		Melanoma(154;0.226)	43						Frame_Shift_Ins	INS	ENST00000557649.1	37	c.128_129insC	CCDS32166.1																																																																																				0.703	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579536	7579545	+	Frame_Shift_Del	DEL	CAATATCGTC	CAATATCGTC	-	rs370502517|rs587781460|rs587780728		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	CAATATCGTC	CAATATCGTC	-	-	CAATATCGTC	CAATATCGTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:7579536_7579545delCAATATCGTC	ENST00000269305.4	-	4	331_340	c.142_151delGACGATATTG	c.(142-153)gacgatattgaafs	p.DDIE48fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DDIE48fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	48	Interaction with HRMT1L2.		D -> G (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E51*(6)|p.D49H(5)|p.E51fs*6(3)|p.D49N(3)|p.I50fs*73(3)|p.D49Y(2)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.I50fs*1(1)|p.D48D(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S46_D49delSPDD(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACCATTGTTCAATATCGTCCGGGGACAGC	0.605		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		39	Deletion - Frameshift(10)|Substitution - Missense(10)|Whole gene deletion(8)|Substitution - Nonsense(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Substitution - coding silent(1)	p.0?(7)|p.E51*(6)|p.D49H(4)|p.D49Y(2)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.I50fs*1(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D48D(1)|p.S46_D49delSPDD(1)	ovary(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|skin(3)|urinary_tract(2)|lung(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|kidney(1)|liver(1)|breast(1)|prostate(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM077985	TP53	M		c.(142-153)GACGATATTGAAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579536_7579545delCAATATCGTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.142_151delGACGATATTG	17.37:g.7579536_7579545delCAATATCGTC	ENSP00000269305:p.Asp48fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.D48fs|TP53_uc002gih.2_Frame_Shift_Del_p.D48fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D48fs|TP53_uc010cni.1_Frame_Shift_Del_p.D48fs|TP53_uc002gij.2_Frame_Shift_Del_p.D48fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D9fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D63fs	p.D48fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	336_345	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	48_51			TADII.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.142_151delGACGATATTG	CCDS11118.1																																																																																				0.605	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		91	1353	NA	NA	NA	NA	NA	91	1353	---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53155556	53155559	+	Splice_Site	DEL	GTAA	GTAA	-	rs546691252		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	GTAA	GTAA	-	-	GTAA	GTAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr17:53155556_53155559delGTAA	ENST00000376352.2	+	14	1512		c.e14+1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4						cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTTTGTAGAGGTAAGTTTTTCTGT	0.328																																							uc002iuf.1		NA																	0				ovary(1)	1						c.e14+1		syntaxin binding protein 4																																				SO:0001630	splice_region_variant	252983					cytoplasm	calcium ion binding	g.chr17:53155556_53155559delGTAA	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1305+1GTAA>-	17.37:g.53155556_53155559delGTAA						STXBP4_uc010dcd.1_Splice_Site_p.E413_splice	p.E435_splice	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			14	1512	+								Q8IVZ5	Splice_Site	DEL	ENST00000376352.2	37	c.1305_splice	CCDS11584.2																																																																																				0.328	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	Intron	9	53	NA	NA	NA	NA	NA	9	53	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16646370	16646371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr19:16646370_16646371insG	ENST00000198939.6	-	3	312_313	c.276_277insC	c.(274-279)cccgccfs	p.A93fs	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Frame_Shift_Ins_p.A93fs					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGGGCGCGGCGGGGGCCAGCG	0.713																																							uc002nei.1		NA																	0				ovary(2)	2						c.(274-279)CCCGCCfs		calcium homeostasis endoplasmic reticulum																																				SO:0001589	frameshift_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16646370_16646371insG	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.277dupC	19.37:g.16646375_16646375dupG	ENSP00000198939:p.Ala93fs					MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Frame_Shift_Ins_p.P60fs	p.P92fs	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			3	350_351	-			92_93						Frame_Shift_Ins	INS	ENST00000198939.6	37	c.276_277insC																																																																																					0.713	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121648154	121648154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:121648154delG	ENST00000489711.1	+	17	1900	c.1512delG	c.(1510-1512)aagfs	p.K504fs	SLC15A2_ENST00000295605.2_Frame_Shift_Del_p.K473fs|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	504					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGTAGGTAAAGGATACAGAAA	0.388																																							uc003eep.2		NA																	0				skin(1)	1						c.(1510-1512)AAGfs		peptide transporter 2 isoform a	Cefadroxil(DB01140)						166.0	156.0	159.0					3																	121648154		2203	4300	6503	SO:0001589	frameshift_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121648154delG	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1512delG	3.37:g.121648154delG	ENSP00000417085:p.Lys504fs					SLC15A2_uc011bjn.1_Frame_Shift_Del_p.K473fs	p.K504fs	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	17	1665	+			504					A8K1A5|B4E2A7	Frame_Shift_Del	DEL	ENST00000489711.1	37	c.1512delG	CCDS3007.1																																																																																				0.388	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		43	604	NA	NA	NA	NA	NA	43	604	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	TGG	TGG	-	-	TGG	TGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																							uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(67-72)ACCATC>ATC		polyhomeotic like 3				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA	p.T23del	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		2	132_134	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23			Poly-Thr.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.68_70delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	1367	NA	NA	NA	NA	NA	8	1367	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47																																							uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(3157-3159)GTCfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs					FNDC3B_uc003fhz.3_Frame_Shift_Ins_p.V1053fs	p.V1053fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3330_3331	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	222	NA	NA	NA	NA	NA	7	222	---	---	---	---
TNFSF10	8743	broad.mit.edu	37	3	172241148	172241149	+	Frame_Shift_Ins	INS	-	-	C	rs138912628		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr3:172241148_172241149insC	ENST00000241261.2	-	1	148_149	c.26_27insG	c.(25-27)ggafs	p.G9fs	TNFSF10_ENST00000420541.2_Frame_Shift_Ins_p.G9fs	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCTGGGTCCCCCCTGGAC	0.535																																							uc003fid.2		NA																	0				skin(4)|lung(1)	5						c.(25-27)GGAfs		tumor necrosis factor (ligand) superfamily,																																				SO:0001589	frameshift_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172241148_172241149insC	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.27dupG	3.37:g.172241154_172241154dupC	ENSP00000241261:p.Gly9fs					TNFSF10_uc003fie.2_Frame_Shift_Ins_p.G9fs|TNFSF10_uc010hwu.1_RNA	p.G9fs	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	121_122	-	Ovarian(172;0.00197)|Breast(254;0.158)		9			Cytoplasmic (Potential).		A1Y9B3	Frame_Shift_Ins	INS	ENST00000241261.2	37	c.26_27insG	CCDS3219.1																																																																																				0.535	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			7	797	NA	NA	NA	NA	NA	7	797	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																							uc010jck.2		NA																	0				ovary(2)	2						c.(2635-2640)CCCAAAfs		sema domain, transmembrane domain (TM), and																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs					SEMA6A_uc003krx.3_Frame_Shift_Ins_p.P896fs|SEMA6A_uc011cwe.1_Frame_Shift_Ins_p.P258fs|SEMA6A_uc003krv.3_Frame_Shift_Ins_p.P306fs|SEMA6A_uc003krw.3_Frame_Shift_Ins_p.P356fs|SEMA6A_uc010jcj.2_Frame_Shift_Ins_p.P423fs	p.P879fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3346_3347	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	879_880			Cytoplasmic (Potential).		Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		9	311	NA	NA	NA	NA	NA	9	311	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																							uc003lgq.2		NA																	0				large_intestine(1)	1						c.(268-270)GAGfs		RED protein																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_uc011czk.1_Frame_Shift_Del_p.E90fs	p.E90fs	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	378_379	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		7	219	NA	NA	NA	NA	NA	7	219	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26426748	26426748	+	RNA	DEL	C	C	-			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr6:26426748delC	ENST00000466808.2	+	0	1064							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CATTTTTATTCCAGGTTAGTT	0.527																																							uc011dkl.1		NA																	0					0						c.(703-705)CCAfs		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;							102.0	101.0	101.0					6																	26426748		2203	4300	6503			54718							g.chr6:26426748delC	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26426748delC						BTN2A3_uc011dkm.1_RNA	p.P235fs							3	733	+								A6NEF4	Frame_Shift_Del	DEL	ENST00000466808.2	37	c.703delC																																																																																					0.527	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		78	365	NA	NA	NA	NA	NA	78	365	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98548545	98548546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:98548545_98548546insG	ENST00000359863.4	+	38	5569_5570	c.5360_5361insG	c.(5359-5364)aaggggfs	p.KG1787fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.KG1769fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.KG1768fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1787					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTTTGAGAAGGGGGAAGGAG	0.411																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(5359-5361)AAGfs		transformation/transcription domain-associated																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98548545_98548546insG	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5365dupG	7.37:g.98548550_98548550dupG	ENSP00000352925:p.Lys1787fs					TRRAP_uc011kis.1_Frame_Shift_Ins_p.K1769fs|TRRAP_uc003upr.2_Frame_Shift_Ins_p.K1486fs	p.K1787fs	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		38	5569_5570	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1787					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.5360_5361insG	CCDS59066.1																																																																																				0.411	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	821	NA	NA	NA	NA	NA	7	821	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562397	142562398	+	Frame_Shift_Ins	INS	-	-	C	rs145544148		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr7:142562397_142562398insC	ENST00000392957.2	+	7	1626_1627	c.839_840insC	c.(838-843)agccccfs	p.SP280fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.SP280fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	280	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGGAGGCAGCCCCCCCAGGC	0.688																																							uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(838-840)AGCfs		ephrin receptor EphB6 precursor																																				SO:0001589	frameshift_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562397_142562398insC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.846dupC	7.37:g.142562404_142562404dupC	ENSP00000376684:p.Ser280fs					EPHB6_uc011ksu.1_Frame_Shift_Ins_p.S280fs|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	p.S280fs	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1626_1627	+	Melanoma(164;0.059)		280			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	c.839_840insC	CCDS5873.2																																																																																				0.688	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	60	NA	NA	NA	NA	NA	7	60	---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12734936	12734937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:12734936_12734937insC	ENST00000380682.1	+	15	2864_2865	c.2358_2359insC	c.(2359-2361)cccfs	p.P787fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	787					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCACATCCCTGCCCCCTCCAGA	0.564																																							uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(2356-2361)CTGCCCfs		FERM and PDZ domain containing 4																																				SO:0001589	frameshift_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734936_12734937insC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2363dupC	X.37:g.12734941_12734941dupC	ENSP00000370057:p.Pro787fs					FRMPD4_uc011mij.1_Frame_Shift_Ins_p.L778fs	p.L786fs	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2864_2865	+			786_787					A8K0X9|O15032	Frame_Shift_Ins	INS	ENST00000380682.1	37	c.2358_2359insC	CCDS35201.1																																																																																				0.564	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		7	834	NA	NA	NA	NA	NA	7	834	---	---	---	---
DLG3	1741	broad.mit.edu	37	X	69665334	69665335	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:69665334_69665335insC	ENST00000374360.3	+	1	516_517	c.283_284insC	c.(283-285)accfs	p.T95fs	DLG3_ENST00000194900.4_Frame_Shift_Ins_p.T95fs	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	95					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGCAAGAGCACCCCCAAACTC	0.698																																							uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(283-285)ACCfs		synapse-associated protein 102 isoform a																																				SO:0001589	frameshift_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69665334_69665335insC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.288dupC	X.37:g.69665339_69665339dupC	ENSP00000363480:p.Thr95fs						p.T95fs	NM_021120	NP_066943	Q92796	DLG3_HUMAN			1	611_612	+	Renal(35;0.156)		95					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Frame_Shift_Ins	INS	ENST00000374360.3	37	c.283_284insC	CCDS14403.1																																																																																				0.698	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1354-1356)gggfs	p.G452fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	452						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579																																							uc004eut.1		NA																	0					0						c.(1351-1356)TCTGGGfs		X-prolyl aminopeptidase 2, membrane-bound																																				SO:0001589	frameshift_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128890517_128890518insG	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1359dupG	X.37:g.128890523_128890523dupG	ENSP00000360147:p.Gly452fs						p.S451fs	NM_003399	NP_003390	O43895	XPP2_HUMAN			14	1597_1598	+			451_452					A0AV16|O75994	Frame_Shift_Ins	INS	ENST00000371106.3	37	c.1353_1354insG	CCDS14613.1																																																																																				0.579	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		8	165	NA	NA	NA	NA	NA	8	165	---	---	---	---
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-64-1677-01A-01W-0928-08	TCGA-64-1677-10A-01W-0928-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	559017d8-4b22-4313-abdd-d3526c889d7f	1da1a9f9-7411-4230-b1ff-3e46a7b88efc	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	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		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_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.chr12:25398285C>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.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	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	215	-	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 -> 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 -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	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	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	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	NM_033360		8	36	1	1	1	0.004482	1	8	36	NA	NA	NA	NA
