#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_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
FRY	10129	broad.mit.edu	37	13	32729801	32729801	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr13:32729801T>A	ENST00000380250.3	+	15	2147		c.e15+2			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATGATAGGTGAGTTTCAGA	0.348																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.e15+2		furry homolog (Drosophila)							32.0	31.0	31.0					13																	32729801		1859	4091	5950	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32729801T>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1651+2T>A	13.37:g.32729801T>A								NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	15	2147	+		Lung SC(185;0.0271)						Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37		CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955732	0.73902	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4193	0.44341	0.0:0.0771:0.0:0.9229	.	.	.	.	.	-1	.	.	.	+	.	.	FRY	31627801	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	6.289000	0.72696	1.989000	0.58080	0.455000	0.32223	.		0.348	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Intron	4	9	0	0	0	0.000248	0	4	9				
SLC4A10	57282	broad.mit.edu	37	2	162728868	162728868	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:162728868G>A	ENST00000446997.1	+	7	925	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SLC4A10_ENST00000375514.5_Missense_Mutation_p.E289K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E278K|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E278K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	278					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGTTAGCAGAGAAAACAGCAC	0.373											OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(865-867)Gaa>Aaa		solute carrier family 4, sodium bicarbonate transporter, member 10							124.0	120.0	121.0					2																	162728868		1871	4103	5974	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162728868G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.832G>A	2.37:g.162728868G>A	ENSP00000393066:p.Glu278Lys		OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1826	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E278K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E278K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000493021.1_3'UTR	p.E289K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			8	1152	+			278					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.865G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406699	0.83230	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.79141	-0.24;-0.24;0.59;-0.24;-1.23;-1.24	5.71	5.71	0.89125	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	M	0.75777	2.31	0.80722	D	1	P;B;P;P	0.41569	0.57;0.006;0.57;0.755	P;B;P;B	0.49953	0.627;0.009;0.627;0.41	T	0.78720	-0.2094	10	0.13108	T	0.6	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	289;278;278;278	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	289;278;278;278;277;278;278;277	ENSP00000364664:E289K;ENSP00000395797:E278K;ENSP00000437527:E278K;ENSP00000272716:E278K;ENSP00000393066:E278K;ENSP00000404486:E278K	ENSP00000272716:E278K	E	+	1	0	SLC4A10	162437114	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.701000	0.92244	0.591000	0.81541	GAA		0.373	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		16	85	0	0	0	0.004007	0	16	85				
TNRC6C	57690	broad.mit.edu	37	17	76046391	76046391	+	Silent	SNP	G	G	A	rs569253210		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76046391G>A	ENST00000588061.1	+	5	1975	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	TNRC6C_ENST00000335749.4_Silent_p.T416T|TNRC6C_ENST00000544502.1_Silent_p.T416T|TNRC6C_ENST00000588847.1_Silent_p.T416T|TNRC6C_ENST00000541771.1_Silent_p.T416T|TNRC6C_ENST00000301624.4_Silent_p.T416T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	416	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGAAGGAACGGGAGAAGGCC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21715	0.001		0.0	False		,,,				2504	0.0					ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1246-1248)acG>acA		trinucleotide repeat containing 6C							90.0	90.0	90.0					17																	76046391		1966	4170	6136	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046391G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1248G>A	17.37:g.76046391G>A						TNRC6C_ENST00000588061.1_Silent_p.T416T|TNRC6C_ENST00000588847.1_Silent_p.T416T|TNRC6C_ENST00000301624.4_Silent_p.T416T|TNRC6C_ENST00000541771.1_Silent_p.T416T|TNRC6C_ENST00000544502.1_Silent_p.T416T	p.T416T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	1817	+			416			Gly-rich.|Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.1248G>A	CCDS45798.1																																																																																				0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		29	74	0	0	0	0.007291	0	29	74				
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991166	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:2991166T>A	ENST00000380542.4	-	7	543		c.e7-2		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.e7-2		nucleosome assembly protein 1-like 4							93.0	81.0	85.0					11																	2991166		1878	4103	5981	SO:0001630	splice_region_variant	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2991166T>A	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.403-2A>T	11.37:g.2991166T>A						NAP1L4_ENST00000526115.1_Splice_Site		NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	7	543	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)						B2R6J4|F5HFY4	Splice_Site	SNP	ENST00000380542.4	37		CCDS41599.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928201	0.52759	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000448187;ENST00000399614;ENST00000430811;ENST00000529361;ENST00000528968	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5647	0.61810	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAP1L4	2947742	1.000000	0.71417	0.980000	0.43619	0.687000	0.40016	7.415000	0.80131	1.795000	0.52594	0.334000	0.21626	.		0.418	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969	Intron	4	52	0	0	0	0.000248	0	4	52				
ZIC4	84107	broad.mit.edu	37	3	147113999	147113999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:147113999G>A	ENST00000383075.3	-	3	840	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZIC4_ENST00000473123.1_Missense_Mutation_p.P110S|ZIC4_ENST00000484399.1_Missense_Mutation_p.P110S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P148S|ZIC4_ENST00000525172.2_Missense_Mutation_p.P160S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	110						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGACCGTGGGGCGCAGCGAGG	0.706																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(328-330)Ccc>Tcc		Zic family member 4							26.0	31.0	29.0					3																	147113999		2193	4296	6489	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113999G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.328C>T	3.37:g.147113999G>A	ENSP00000372553:p.Pro110Ser					ZIC4_ENST00000484399.1_Missense_Mutation_p.P110S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P148S|ZIC4_ENST00000525172.2_Missense_Mutation_p.P160S|ZIC4_ENST00000473123.1_Missense_Mutation_p.P110S	p.P110S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	840	-			110					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.328C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021578	0.35701	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	4.98	4.1	0.47936	.	0.313223	0.22917	N	0.054075	T	0.26810	0.0656	L	0.29908	0.895	0.80722	D	1	B;B	0.25486	0.127;0.017	B;B	0.17098	0.017;0.013	T	0.03684	-1.1013	10	0.36615	T	0.2	.	13.2791	0.60205	0.077:0.0:0.923:0.0	.	160;110	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	S	110;148;160;110;110;110	ENSP00000372553:P110S;ENSP00000397695:P148S;ENSP00000435509:P160S;ENSP00000417855:P110S;ENSP00000420775:P110S;ENSP00000420627:P110S	ENSP00000372553:P110S	P	-	1	0	ZIC4	148596689	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	6.402000	0.73260	1.091000	0.41335	0.561000	0.74099	CCC		0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			9	52	0	0	0	0.004482	0	9	52				
SCN4A	6329	broad.mit.edu	37	17	62029168	62029168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:62029168C>G	ENST00000435607.1	-	14	2545	c.2469G>C	c.(2467-2469)caG>caC	p.Q823H	SCN4A_ENST00000578147.1_Missense_Mutation_p.Q823H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	823					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGATGGCAATCTGCAGGTTGT	0.602																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2467-2469)caG>caC		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						12.0	14.0	13.0					17																	62029168		2053	4187	6240	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62029168C>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2469G>C	17.37:g.62029168C>G	ENSP00000396320:p.Gln823His					SCN4A_ENST00000435607.1_Missense_Mutation_p.Q823H	p.Q823H			P35499	SCN4A_HUMAN			14	2545	-			823					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2469G>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189891	0.78789	.	.	ENSG00000007314	ENST00000435607	D	0.87256	-2.23	4.54	3.54	0.40534	Sodium ion transport-associated (1);	0.055177	0.85682	D	0.000000	D	0.93223	0.7841	M	0.86573	2.825	0.52099	D	0.999945	D	0.76494	0.999	D	0.78314	0.991	D	0.93732	0.7042	10	0.87932	D	0	.	11.8884	0.52615	0.0:0.9109:0.0:0.0891	.	823	P35499	SCN4A_HUMAN	H	823	ENSP00000396320:Q823H	ENSP00000396320:Q823H	Q	-	3	2	SCN4A	59382900	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.895000	0.56258	2.379000	0.81126	0.455000	0.32223	CAG		0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		3	6	0	0	0	0.004672	0	3	6				
CCDC107	203260	broad.mit.edu	37	9	35661158	35661158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:35661158C>T	ENST00000426546.2	+	5	892	c.826C>T	c.(826-828)Cga>Tga	p.R276*	CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.R249*|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	276						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAAGGTCGACTAAAACA	0.552																																						ENST00000426546.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(826-828)Cga>Tga		coiled-coil domain containing 107							46.0	50.0	49.0					9																	35661158		2203	4300	6503	SO:0001587	stop_gained	203260					integral to membrane		g.chr9:35661158C>T	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.826C>T	9.37:g.35661158C>T	ENSP00000414964:p.Arg276*					ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.R249*|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR	p.R276*	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	892	+	all_epithelial(49;0.217)		276					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Nonsense_Mutation	SNP	ENST00000426546.2	37	c.826C>T	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	C	2.278	-0.365451	0.05069	.	.	ENSG00000159884	ENST00000426546;ENST00000378409	.	.	.	5.04	-0.0856	0.13685	.	0.863143	0.09319	N	0.818552	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	4.7261	7.7992	0.29164	0.0:0.3448:0.0:0.6552	.	.	.	.	X	276;249	.	ENSP00000367665:R249X	R	+	1	2	CCDC107	35651158	0.033000	0.19621	0.006000	0.13384	0.014000	0.08584	-0.078000	0.11375	-0.094000	0.12374	-0.294000	0.09567	CGA		0.552	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		11	51	0	0	0	0.008291	0	11	51				
BCL11B	64919	broad.mit.edu	37	14	99640654	99640654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:99640654G>A	ENST00000357195.3	-	4	2528	c.2519C>T	c.(2518-2520)aCg>aTg	p.T840M	BCL11B_ENST00000443726.2_Missense_Mutation_p.T646M|BCL11B_ENST00000345514.2_Missense_Mutation_p.T769M	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	840					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGTGGCGCGTGAGCTTGCT	0.622			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2305-2307)aCg>aTg		B-cell CLL/lymphoma 11B (zinc finger protein)							78.0	62.0	68.0					14																	99640654		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640654G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2519C>T	14.37:g.99640654G>A	ENSP00000349723:p.Thr840Met					BCL11B_ENST00000357195.3_Missense_Mutation_p.T840M|BCL11B_ENST00000443726.2_Missense_Mutation_p.T646M	p.T769M	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2572	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	840					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2306C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136089	0.77662	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.08102	3.13;3.13;3.13	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172325	0.36555	N	0.002535	T	0.20901	0.0503	L	0.33792	1.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01894	-1.1252	10	0.87932	D	0	-12.2517	17.9731	0.89119	0.0:0.0:1.0:0.0	.	769;840	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	M	840;769;646	ENSP00000349723:T840M;ENSP00000280435:T769M;ENSP00000387419:T646M	ENSP00000280435:T769M	T	-	2	0	BCL11B	98710407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.331000	0.79229	0.462000	0.41574	ACG		0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		6	42	0	0	0	0.003080	0	6	42				
SLC25A31	83447	broad.mit.edu	37	4	128651737	128651737	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:128651737C>T	ENST00000281154.4	+	1	205	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	13					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GGCAGAAAAGCGGCTGTTTGA	0.567																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(37-39)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							60.0	55.0	57.0					4																	128651737		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651737C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.37C>T	4.37:g.128651737C>T	ENSP00000281154:p.Arg13Trp						p.R13W	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			1	205	+			13						Missense_Mutation	SNP	ENST00000281154.4	37	c.37C>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773336	0.31411	.	.	ENSG00000151475	ENST00000281154	T	0.80480	-1.38	4.38	-0.309	0.12769	.	1.774010	0.03144	N	0.166930	T	0.61527	0.2354	N	0.14661	0.345	0.09310	N	1	P	0.48589	0.912	B	0.29942	0.109	T	0.59941	-0.7359	10	0.87932	D	0	-26.0925	7.7965	0.29150	0.4072:0.3325:0.2603:0.0	.	13	Q9H0C2	ADT4_HUMAN	W	13	ENSP00000281154:R13W	ENSP00000281154:R13W	R	+	1	2	SLC25A31	128871187	0.842000	0.29525	0.000000	0.03702	0.038000	0.13279	0.146000	0.16180	-0.216000	0.10048	0.655000	0.94253	CGG		0.567	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		11	64	0	0	0	0.000978	0	11	64				
LRRTM3	347731	broad.mit.edu	37	10	68687032	68687032	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:68687032A>G	ENST00000361320.4	+	2	936	c.358A>G	c.(358-360)Aga>Gga	p.R120G	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAGTTCCAATAGAATCTCCTA	0.388																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(358-360)Aga>Gga		leucine rich repeat transmembrane neuronal 3							101.0	107.0	105.0					10																	68687032		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687032A>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.358A>G	10.37:g.68687032A>G	ENSP00000355187:p.Arg120Gly					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	p.R120G	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	936	+			120					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.358A>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324574	0.41197	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.59502	0.26	5.43	1.27	0.21489	.	0.000000	0.64402	D	0.000003	T	0.60051	0.2239	L	0.54863	1.705	0.45318	D	0.998311	P;P	0.46952	0.786;0.887	P;P	0.51415	0.602;0.669	T	0.57751	-0.7757	10	0.32370	T	0.25	.	13.4899	0.61388	0.626:0.3739:0.0:0.0	.	120;120	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	G	120	ENSP00000355187:R120G	ENSP00000355187:R120G	R	+	1	2	LRRTM3	68357038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.174000	0.65015	0.318000	0.23185	0.533000	0.62120	AGA		0.388	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		25	99	0	0	0	0.002780	0	25	99				
AQP1	358	broad.mit.edu	37	7	30951587	30951587	+	Silent	SNP	G	G	T	rs556771402		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:30951587G>T	ENST00000311813.4	+	1	118	c.63G>T	c.(61-63)acG>acT	p.T21T	AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	21					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TCCTGGCCACGACCCTCTTTG	0.622																																						ENST00000311813.4																			0				kidney(1)|large_intestine(2)|lung(9)	12						c.(61-63)acG>acT		aquaporin 1							53.0	57.0	56.0					7																	30951587		2203	4300	6503	SO:0001819	synonymous_variant	358							g.chr7:30951587G>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.63G>T	7.37:g.30951587G>T						AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron	p.T21T	NM_198098.2	NP_932766.1					1	118	+		Melanoma(862;0.16)						B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	c.63G>T	CCDS5431.1																																																																																				0.622	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		16	37	1	0	3.45872e-05	0.004007	5.12557e-05	16	37				
PRR14	78994	broad.mit.edu	37	16	30665627	30665627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:30665627C>G	ENST00000542965.2	+	6	1081	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	PRR14_ENST00000300835.4_Missense_Mutation_p.L209V			Q9BWN1	PRR14_HUMAN	proline rich 14	209	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCATCTGCTCTGCCTGCAGA	0.577																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(625-627)Ctg>Gtg		proline rich 14							133.0	140.0	138.0					16																	30665627		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30665627C>G	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.625C>G	16.37:g.30665627C>G	ENSP00000441641:p.Leu209Val					PRR14_ENST00000300835.4_Missense_Mutation_p.L209V	p.L209V			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		6	1081	+			209			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.625C>G	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	5.114	0.206734	0.09704	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.44881	0.91;0.91	5.39	1.22	0.21188	.	0.455403	0.17698	N	0.165016	T	0.39384	0.1076	L	0.57536	1.79	0.09310	N	1	P	0.48162	0.906	P	0.46543	0.52	T	0.18808	-1.0325	10	0.28530	T	0.3	-1.0946	7.5817	0.27970	0.0:0.6501:0.0:0.3499	.	209	Q9BWN1	PRR14_HUMAN	V	182;209;209	ENSP00000300835:L209V;ENSP00000441641:L209V	ENSP00000287463:L182V	L	+	1	2	PRR14	30573128	0.000000	0.05858	0.118000	0.21660	0.037000	0.13140	0.149000	0.16243	0.415000	0.25817	0.650000	0.86243	CTG		0.577	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		4	182	0	0	0	0.000602	0	4	182				
ANKRD44	91526	broad.mit.edu	37	2	197990624	197990624	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990624G>A	ENST00000328737.2	-	5	400	c.324C>T	c.(322-324)gtC>gtT	p.V108V	ANKRD44_ENST00000450567.1_Silent_p.V108V|ANKRD44_ENST00000409153.1_Silent_p.V133V|ANKRD44_ENST00000282272.8_Silent_p.V125V|ANKRD44_ENST00000409919.1_Silent_p.V133V|ANKRD44_ENST00000539527.1_Silent_p.V61V|ANKRD44_ENST00000337207.5_Silent_p.V108V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	133										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGAGACATTGACACTGCTCA	0.547																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(322-324)gtC>gtT		ankyrin repeat domain 44							150.0	139.0	143.0					2																	197990624		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197990624G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.324C>T	2.37:g.197990624G>A						ANKRD44_ENST00000337207.5_Silent_p.V108V|ANKRD44_ENST00000539527.1_Silent_p.V61V|ANKRD44_ENST00000409153.1_Silent_p.V133V|ANKRD44_ENST00000450567.1_Silent_p.V108V|ANKRD44_ENST00000282272.8_Silent_p.V125V|ANKRD44_ENST00000409919.1_Silent_p.V133V	p.V108V			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	400	-			133					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.324C>T																																																																																					0.547	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		32	128	0	0	0	0.002096	0	32	128				
CEP250	11190	broad.mit.edu	37	20	34091852	34091852	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:34091852G>A	ENST00000397527.1	+	30	6375	c.5655G>A	c.(5653-5655)ctG>ctA	p.L1885L	CEP250_ENST00000342580.4_Silent_p.L1829L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1885	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCAGGCCCTGGAGGAGGTGC	0.617																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5653-5655)ctG>ctA		centrosomal protein 250kDa							49.0	44.0	46.0					20																	34091852		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091852G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5655G>A	20.37:g.34091852G>A						CEP250_ENST00000342580.4_Silent_p.L1829L	p.L1885L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	6375	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1885			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.5655G>A	CCDS13255.1																																																																																				0.617	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		12	31	0	0	0	0.001368	0	12	31				
CMTR1	23070	broad.mit.edu	37	6	37429756	37429756	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:37429756C>T	ENST00000373451.4	+	12	1367	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	401	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GAGGCCACTTCATCTGTAAAA	0.438																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1201-1203)ttC>ttT									211.0	212.0	212.0					6																	37429756		2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429756C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1203C>T	6.37:g.37429756C>T						FTSJD2_ENST00000493656.1_3'UTR	p.F401F	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			12	1367	+			401					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.1203C>T	CCDS4835.1																																																																																				0.438	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		36	152	0	0	0	0.004289	0	36	152				
ARMC6	93436	broad.mit.edu	37	19	19153573	19153573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:19153573C>T	ENST00000535612.1	+	3	515	c.83C>T	c.(82-84)tCc>tTc	p.S28F	ARMC6_ENST00000392335.2_Missense_Mutation_p.S3F|ARMC6_ENST00000269932.6_Missense_Mutation_p.S3F|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392336.3_Missense_Mutation_p.S28F	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	28					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGATGGTCTCCAAGCGCATT	0.577																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(82-84)tCc>tTc		armadillo repeat containing 6							122.0	106.0	111.0					19																	19153573		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19153573C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.83C>T	19.37:g.19153573C>T	ENSP00000444156:p.Ser28Phe					ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Missense_Mutation_p.S3F|ARMC6_ENST00000269932.6_Missense_Mutation_p.S3F|ARMC6_ENST00000392336.3_Missense_Mutation_p.S28F	p.S28F	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		3	515	+			28					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.83C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478435	0.44044	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000540707;ENST00000541725;ENST00000269932;ENST00000540792;ENST00000536098;ENST00000541898;ENST00000543877;ENST00000545190;ENST00000538663;ENST00000392336	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.4	3.29	0.37713	.	0.447680	0.24732	N	0.036044	T	0.33990	0.0882	M	0.64997	1.995	0.39049	D	0.960284	P	0.51351	0.944	P	0.48030	0.564	T	0.26052	-1.0114	10	0.62326	D	0.03	-26.4908	6.4869	0.22093	0.0:0.6911:0.1501:0.1589	.	28	Q6NXE6	ARMC6_HUMAN	F	3;28;3;3;28;3;3;3;3;59;3;3;28	ENSP00000376147:S3F;ENSP00000444156:S28F;ENSP00000269932:S3F;ENSP00000376148:S28F	ENSP00000269932:S3F	S	+	2	0	ARMC6	19014573	0.729000	0.28090	0.842000	0.33263	0.024000	0.10985	2.846000	0.48262	1.279000	0.44446	0.655000	0.94253	TCC		0.577	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		7	45	0	0	0	0.003080	0	7	45				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|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)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	130	0	0	0	0.000248	0	3	130				
HELZ	9931	broad.mit.edu	37	17	65105354	65105354	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:65105354G>T	ENST00000358691.5	-	29	4533	c.4367C>A	c.(4366-4368)cCc>cAc	p.P1456H	HELZ_ENST00000580168.1_Missense_Mutation_p.P1457H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1456						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTGCAGCATGGGAGGGGGCTG	0.532																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4366-4368)cCc>cAc		helicase with zinc finger							65.0	73.0	70.0					17																	65105354		2017	4189	6206	SO:0001583	missense	9931							g.chr17:65105354G>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4367C>A	17.37:g.65105354G>T	ENSP00000351524:p.Pro1456His					HELZ_ENST00000580168.1_Missense_Mutation_p.P1457H	p.P1456H	NM_014877.3	NP_055692.2					29	4533	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4367C>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425753	0.43020	.	.	ENSG00000198265	ENST00000358691	D	0.83914	-1.78	5.9	5.9	0.94986	.	0.152885	0.64402	D	0.000017	T	0.81489	0.4833	L	0.29908	0.895	0.47094	D	0.99931	P;P	0.49635	0.926;0.926	P;P	0.46718	0.525;0.525	D	0.83450	0.0048	10	0.87932	D	0	-7.0529	20.2799	0.98512	0.0:0.0:1.0:0.0	.	1457;1456	B7ZLW2;P42694	.;HELZ_HUMAN	H	1456	ENSP00000351524:P1456H	ENSP00000351524:P1456H	P	-	2	0	HELZ	62535816	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.812000	0.62613	2.804000	0.96469	0.549000	0.68633	CCC		0.532	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		17	70	1	0	2.23348e-06	0.004007	3.37078e-06	17	70				
NFYA	4800	broad.mit.edu	37	6	41065110	41065110	+	Silent	SNP	C	C	T	rs377013862		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:41065110C>T	ENST00000341376.6	+	10	1206	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	NFYA_ENST00000353205.5_Silent_p.A306A|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	335					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAACCAAGCCGATGAAGAAG	0.453																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(1003-1005)gcC>gcT		nuclear transcription factor Y, alpha		C	,	0,4406		0,0,2203	216.0	177.0	190.0		1005,918	-4.7	1.0	6		190	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NFYA	NM_002505.4,NM_021705.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	335/348,306/319	41065110	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41065110C>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.1005C>T	6.37:g.41065110C>T						OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.A306A	p.A335A	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			10	1206	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		335					Q8IXU0	Silent	SNP	ENST00000341376.6	37	c.1005C>T	CCDS4849.1																																																																																				0.453	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			15	56	0	0	0	0.003163	0	15	56				
EFCAB5	374786	broad.mit.edu	37	17	28407106	28407106	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:28407106G>A	ENST00000394835.3	+	16	3236	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.G891E	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1015							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAGCCCATGGAAATAAAAAG	0.428																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(3043-3045)gGa>gAa		EF-hand calcium binding domain 5							152.0	144.0	146.0					17																	28407106		1904	4130	6034	SO:0001583	missense	374786						calcium ion binding	g.chr17:28407106G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3044G>A	17.37:g.28407106G>A	ENSP00000378312:p.Gly1015Glu					EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.G891E	p.G1015E	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			16	3236	+			1015					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3044G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291381	0.80914	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.60424	0.19;0.34;0.3	5.68	5.68	0.88126	GAF (1);	0.000000	0.53938	D	0.000059	T	0.75824	0.3902	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77742	-0.2474	10	0.87932	D	0	-33.5644	16.9494	0.86240	0.0:0.0:1.0:0.0	.	891;1015	E7EVS9;A4FU69	.;EFCB5_HUMAN	E	1015;891;697	ENSP00000378312:G1015E;ENSP00000322003:G891E;ENSP00000417009:G697E	ENSP00000322003:G891E	G	+	2	0	EFCAB5	25431232	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.112000	0.77086	2.678000	0.91216	0.585000	0.79938	GGA		0.428	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		16	94	0	0	0	0.003163	0	16	94				
PCDHA1	56147	broad.mit.edu	37	5	140167279	140167279	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:140167279C>T	ENST00000504120.2	+	1	1404	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	PCDHA1_ENST00000394633.3_Silent_p.N468N|PCDHA1_ENST00000378133.3_Silent_p.N468N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	468	Cadherin 5. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAACCCGCCGGGCT	0.667																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1402-1404)aaC>aaT									58.0	65.0	62.0					5																	140167279		2203	4297	6500	SO:0001819	synonymous_variant	56147							g.chr5:140167279C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1404C>T	5.37:g.140167279C>T						PCDHA1_ENST00000378133.3_Silent_p.N468N|PCDHA1_ENST00000394633.3_Silent_p.N468N	p.N468N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1404	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1404C>T	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		51	51	0	0	0	0.003610	0	51	51				
PARP3	10039	broad.mit.edu	37	3	51979210	51979210	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:51979210G>T	ENST00000417220.2	+	7	1319	c.831G>T	c.(829-831)gaG>gaT	p.E277D	PARP3_ENST00000431474.1_Missense_Mutation_p.E277D|PARP3_ENST00000398755.3_Missense_Mutation_p.E284D			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	277	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCCCTGAGCTTCTGCAGG	0.627																																						ENST00000417220.2																			0				ovary(1)	1						c.(829-831)gaG>gaT		poly (ADP-ribose) polymerase family, member 3							54.0	62.0	59.0					3																	51979210		2054	4200	6254	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979210G>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.831G>T	3.37:g.51979210G>T	ENSP00000395951:p.Glu277Asp					PARP3_ENST00000431474.1_Missense_Mutation_p.E277D|PARP3_ENST00000398755.3_Missense_Mutation_p.E284D	p.E277D			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	1319	+			277			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.831G>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994764	0.19043	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.2	1.34	0.21922	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.217322	0.47852	N	0.000207	T	0.12774	0.0310	L	0.42487	1.325	0.25663	N	0.985973	B;B	0.10296	0.003;0.001	B;B	0.12837	0.007;0.008	T	0.19451	-1.0305	10	0.40728	T	0.16	-14.6402	6.5684	0.22525	0.0673:0.239:0.57:0.1237	.	284;277	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	D	277;277;284;277	ENSP00000395951:E277D;ENSP00000401511:E277D;ENSP00000381740:E284D;ENSP00000417625:E277D	ENSP00000381740:E284D	E	+	3	2	PARP3	51954250	0.836000	0.29430	0.031000	0.17742	0.500000	0.33767	0.352000	0.20113	0.068000	0.16574	-0.165000	0.13383	GAG		0.627	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		29	14	1	0	9.39395e-14	0.006320	1.50059e-13	29	14				
TSC2	7249	broad.mit.edu	37	16	2134999	2134999	+	Nonsense_Mutation	SNP	C	C	G	rs137854193|rs74363455|rs137854175		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:2134999C>G	ENST00000219476.3	+	35	5171	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1491*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1458*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1399*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1411*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1447*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1471*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1514					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGACGAGTCAAACAAGCCA	0.637			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4540-4542)tCa>tGa		tuberous sclerosis 2							130.0	101.0	111.0					16																	2134999		2197	4298	6495	SO:0001587	stop_gained	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134999C>G	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4541C>G	16.37:g.2134999C>G	ENSP00000219476:p.Ser1514*					TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1458*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1399*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1471*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1447*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1491*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1411*	p.S1514*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			35	5171	+		Hepatocellular(780;0.0202)	1514					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	37	c.4541C>G	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	42	9.327930	0.99138	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.25	5.25	0.73442	.	0.298080	0.31847	N	0.006963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.2149	14.6345	0.68678	0.1548:0.8451:0.0:0.0	.	.	.	.	X	1514;1448;1471;1411;1399;1491	.	ENSP00000219476:S1514X	S	+	2	0	TSC2	2075000	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	6.029000	0.70895	2.463000	0.83235	0.643000	0.83706	TCA		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	40	0	0	0	0.004672	0	3	40				
GALR2	8811	broad.mit.edu	37	17	74073206	74073206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:74073206C>A	ENST00000329003.3	+	2	948	c.858C>A	c.(856-858)tgC>tgA	p.C286*	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	286					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACTCCTGCGTCAACCCCA	0.662																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(856-858)tgC>tgA		galanin receptor 2							38.0	33.0	35.0					17																	74073206		2203	4300	6503	SO:0001587	stop_gained	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073206C>A	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.858C>A	17.37:g.74073206C>A	ENSP00000329684:p.Cys286*						p.C286*	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	948	+			286					A5JUU4|Q32MN8	Nonsense_Mutation	SNP	ENST00000329003.3	37	c.858C>A	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999090	0.93227	.	.	ENSG00000182687	ENST00000329003	.	.	.	4.85	2.77	0.32553	.	0.128702	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3606	0.26744	0.0:0.7097:0.0:0.2903	.	.	.	.	X	286	.	ENSP00000329684:C286X	C	+	3	2	GALR2	71584801	0.974000	0.33945	0.985000	0.45067	0.747000	0.42532	0.232000	0.17891	0.400000	0.25396	0.462000	0.41574	TGC		0.662	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			4	24	1	0	0.00024832	0.000248	0.00036146	4	24				
PCDH15	65217	broad.mit.edu	37	10	55912867	55912867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912867C>T	ENST00000320301.6	-	14	2171	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E571K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E593K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E600K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E571K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E593K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E204K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E556K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E600K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E593K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E598K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	593	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTTCGCTCTGCAGGAGGA	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1798-1800)Gag>Aag		protocadherin-related 15							91.0	82.0	85.0					10																	55912867		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912867C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1777G>A	10.37:g.55912867C>T	ENSP00000322604:p.Glu593Lys	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Missense_Mutation_p.E593K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E593K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E593K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E204K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E593K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E598K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E593K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E571K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E600K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E556K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E571K	p.E600K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			15	2192	-		Melanoma(3;0.117)|Lung SC(717;0.238)	593			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1798G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281299	0.80692	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.48;0.53;0.47;0.47;0.45;0.48;0.46;0.42;0.47;0.37;0.43;0.43;0.81;0.52	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51363	0.1670	N	0.20304	0.555	0.27487	N	0.952402	P;P;P;P;P;P;P;B;P;P;P;B;P;P;P	0.50710	0.89;0.792;0.629;0.629;0.938;0.792;0.89;0.372;0.629;0.629;0.873;0.372;0.516;0.571;0.792	P;P;B;P;P;P;P;B;P;P;P;B;B;B;P	0.52957	0.714;0.542;0.439;0.542;0.688;0.643;0.714;0.403;0.542;0.542;0.685;0.309;0.287;0.403;0.542	T	0.49679	-0.8914	9	0.52906	T	0.07	.	14.3319	0.66564	0.0:0.7412:0.2588:0.0	.	571;593;593;598;593;556;593;593;600;600;593;598;593;571;593	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	600;598;593;593;204;600;593;556;593;571;571;593;593;598;593;593	ENSP00000363076:E600K;ENSP00000410304:E598K;ENSP00000378826:E593K;ENSP00000386693:E204K;ENSP00000378832:E600K;ENSP00000378833:E593K;ENSP00000378820:E556K;ENSP00000354950:E593K;ENSP00000378821:E571K;ENSP00000363068:E571K;ENSP00000322604:E593K;ENSP00000378818:E593K;ENSP00000412628:E593K;ENSP00000363066:E593K	ENSP00000322604:E593K	E	-	1	0	PCDH15	55582873	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.322000	0.52007	2.764000	0.94973	0.650000	0.86243	GAG		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	45	0	0	0	0.000978	0	12	45				
L3MBTL2	83746	broad.mit.edu	37	22	41623845	41623845	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:41623845G>A	ENST00000216237.5	+	15	2018	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	620	Poly-Lys.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCCACAAAGAAGAAAAAGA	0.572																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1858-1860)aaG>aaA		l(3)mbt-like 2 (Drosophila)							61.0	60.0	60.0					22																	41623845		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41623845G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1860G>A	22.37:g.41623845G>A							p.K620K	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			15	2018	+			620			Poly-Lys.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1860G>A	CCDS14011.1																																																																																				0.572	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		6	36	0	0	0	0.001168	0	6	36				
SLC35G2	80723	broad.mit.edu	37	3	136573476	136573476	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:136573476G>C	ENST00000446465.2	+	2	802	c.174G>C	c.(172-174)ctG>ctC	p.L58L	SLC35G2_ENST00000393079.3_Silent_p.L58L|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		AAGGTCTGCTGAGTGAAATGA	0.398																																						ENST00000446465.2																			0											c.(172-174)ctG>ctC		solute carrier family 35, member G2							101.0	115.0	110.0					3																	136573476		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573476G>C	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.174G>C	3.37:g.136573476G>C						RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L58L|RP11-85F14.5_ENST00000461864.1_RNA	p.L58L	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	802	+			58						Silent	SNP	ENST00000446465.2	37	c.174G>C	CCDS3091.1																																																																																				0.398	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		23	184	0	0	0	0.003330	0	23	184				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	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)	ENST00000263967.3	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		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(881)|p.E545Q(18)	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)	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						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit 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_006218.2	NP_006209.2	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 -> A (in cancer).|E -> G (in KERSEB).|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			10	67	0	0	0	0.008291	0	10	67				
SORCS3	22986	broad.mit.edu	37	10	107012616	107012616	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:107012616C>A	ENST00000369701.3	+	23	3416	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1063					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCTTCCACCCAAGAACCTGA	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3187-3189)ccC>ccA		sortilin-related VPS10 domain containing receptor 3							122.0	126.0	125.0					10																	107012616		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107012616C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3189C>A	10.37:g.107012616C>A							p.P1063P	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	23	3416	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1063					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3189C>A	CCDS7558.1																																																																																				0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	56	1	0	6.40141e-05	0.000978	9.37349e-05	11	56				
CLSTN2	64084	broad.mit.edu	37	3	140281716	140281716	+	Missense_Mutation	SNP	C	C	T	rs139860767		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:140281716C>T	ENST00000458420.3	+	14	2466	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	759					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.P759L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACTGGCGTCCGGCTTCCCTT	0.567										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.P759L(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2275-2277)cCg>cTg		calsyntenin 2		C	LEU/PRO	0,4406		0,0,2203	55.0	53.0	53.0		2276	4.8	0.0	3	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CLSTN2	NM_022131.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	759/956	140281716	1,13005	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281716C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2276C>T	3.37:g.140281716C>T	ENSP00000402460:p.Pro759Leu	HNSCC(16;0.037)					p.P759L	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			14	2466	+			759					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2276C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959678	0.34565	0.0	1.16E-4	ENSG00000158258	ENST00000458420	T	0.27402	1.67	4.83	4.83	0.62350	.	0.213702	0.49916	D	0.000137	T	0.28632	0.0709	M	0.70595	2.14	0.38238	D	0.941249	P	0.44659	0.84	B	0.28385	0.089	T	0.41875	-0.9484	9	.	.	.	-9.0287	15.766	0.78126	0.0:1.0:0.0:0.0	.	759	Q9H4D0	CSTN2_HUMAN	L	759	ENSP00000402460:P759L	.	P	+	2	0	CLSTN2	141764406	0.413000	0.25400	0.009000	0.14445	0.032000	0.12392	4.936000	0.63506	2.377000	0.81083	0.563000	0.77884	CCG		0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		12	55	0	0	0	0.000978	0	12	55				
NOTCH1	4851	broad.mit.edu	37	9	139418373	139418373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:139418373G>T	ENST00000277541.6	-	3	274	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	NOTCH1_ENST00000491649.1_5'Flank	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	67	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTGCAGGGGGTGCTGAGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(199-201)Ccc>Acc		notch 1							15.0	21.0	19.0					9																	139418373		2084	4190	6274	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418373G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.199C>A	9.37:g.139418373G>T	ENSP00000277541:p.Pro67Thr	HNSCC(8;0.001)					p.P67T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	274	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	67			EGF-like 2.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.199C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768186	0.69878	.	.	ENSG00000148400	ENST00000277541	T	0.60171	0.21	4.62	3.71	0.42584	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.058336	0.64402	D	0.000001	T	0.74543	0.3730	M	0.85777	2.775	0.54753	D	0.999989	P	0.44877	0.845	P	0.59012	0.85	T	0.76350	-0.2991	10	0.51188	T	0.08	.	12.5751	0.56359	0.0:0.0:0.832:0.168	.	67	P46531	NOTC1_HUMAN	T	67	ENSP00000277541:P67T	ENSP00000277541:P67T	P	-	1	0	NOTCH1	138538194	1.000000	0.71417	0.453000	0.27007	0.945000	0.59286	6.445000	0.73456	0.884000	0.36064	0.561000	0.74099	CCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	7	1	0	0.000602214	0.000602	0.000866344	5	7				
PCDH1	5097	broad.mit.edu	37	5	141244696	141244696	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:141244696C>G	ENST00000394536.3	-	3	1339	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	PCDH1_ENST00000456271.1_Silent_p.G388G|PCDH1_ENST00000287008.3_Silent_p.G400G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.G378G|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTTAGCCATCCCATCTTGAT	0.567																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1198-1200)ggG>ggC		protocadherin 1							144.0	116.0	126.0					5																	141244696		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244696C>G	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1200G>C	5.37:g.141244696C>G						PCDH1_ENST00000456271.1_Silent_p.G388G|PCDH1_ENST00000536585.1_Silent_p.G378G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.G400G	p.G400G	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1347	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	400			Cadherin 4.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.1200G>C	CCDS43375.1																																																																																				0.567	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		35	91	0	0	0	0.002836	0	35	91				
ILK	3611	broad.mit.edu	37	11	6631166	6631166	+	Splice_Site	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:6631166G>A	ENST00000396751.2	+	10	1434		c.e10-1		ILK_ENST00000299421.4_Splice_Site|ILK_ENST00000528995.1_Splice_Site|ILK_ENST00000526711.1_Splice_Site|ILK_ENST00000420936.2_Splice_Site|ILK_ENST00000537806.1_Splice_Site|RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'Flank	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase						branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCTTCCTCAGATTGATGAGG	0.512																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.e10-1		integrin-linked kinase							110.0	107.0	108.0					11																	6631166		2201	4296	6497	SO:0001630	splice_region_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6631166G>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.979-1G>A	11.37:g.6631166G>A						ILK_ENST00000537806.1_Splice_Site|ILK_ENST00000528995.1_Splice_Site|ILK_ENST00000526711.1_Splice_Site|ILK_ENST00000420936.2_Splice_Site|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Splice_Site		NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	10	1434	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)						B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Splice_Site	SNP	ENST00000396751.2	37		CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846747	0.51164	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6822	0.77381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ILK	6587742	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.621000	0.90949	2.700000	0.92200	0.563000	0.77884	.		0.512	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517	Intron	6	103	0	0	0	0.003080	0	6	103				
TMEM184C	55751	broad.mit.edu	37	4	148545966	148545966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:148545966G>C	ENST00000296582.3	+	4	877	c.303G>C	c.(301-303)ttG>ttC	p.L101F	TMEM184C_ENST00000508208.1_Missense_Mutation_p.L101F	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	101						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GGATAGCTTTGAAATATCCCG	0.333																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(301-303)ttG>ttC		transmembrane protein 184C							82.0	81.0	81.0					4																	148545966		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148545966G>C	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.303G>C	4.37:g.148545966G>C	ENSP00000296582:p.Leu101Phe					TMEM184C_ENST00000508208.1_Missense_Mutation_p.L101F	p.L101F	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			4	877	+			101					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.303G>C	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264727	0.59431	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.56275	0.47;0.47	5.12	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.67569	2.06	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.72497	-0.4275	10	0.62326	D	0.03	-22.2181	13.8514	0.63499	0.0743:0.0:0.9257:0.0	.	101	Q9NVA4	T184C_HUMAN	F	101	ENSP00000296582:L101F;ENSP00000425940:L101F	ENSP00000296582:L101F	L	+	3	2	TMEM184C	148765416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.993000	0.56987	1.293000	0.44690	0.585000	0.79938	TTG		0.333	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		15	30	0	0	0	0.002450	0	15	30				
SNHG14	104472715	broad.mit.edu	37	15	25327970	25327970	+	RNA	SNP	A	A	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:25327970A>T	ENST00000546682.1	+	0	188				SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAAATGAGTGAAAACTCTATA	0.468																																						ENST00000546682.1																			0																				294.0	247.0	261.0					15																	25327970		876	1991	2867			104472715							g.chr15:25327970A>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327970A>T						SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA		NR_003361.1						0	188	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.468	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			36	152	0	0	0	0.003271	0	36	152				
RNF20	56254	broad.mit.edu	37	9	104319876	104319876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104319876C>T	ENST00000389120.3	+	16	2470	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	794					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)			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)		TCTGAAGACTCAGGTAATTAG	0.388																																						ENST00000389120.3																			0				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						c.(2380-2382)Cag>Tag		ring finger protein 20, E3 ubiquitin protein ligase							73.0	66.0	68.0					9																	104319876		2203	4300	6503	SO:0001587	stop_gained	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.chr9:104319876C>T	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.2380C>T	9.37:g.104319876C>T	ENSP00000373772:p.Gln794*						p.Q794*	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	16	2470	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	794					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	ENST00000389120.3	37	c.2380C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	40	8.037170	0.98621	.	.	ENSG00000155827	ENST00000389120	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.6793	18.6599	0.91469	0.0:1.0:0.0:0.0	.	.	.	.	X	794	.	ENSP00000373772:Q794X	Q	+	1	0	RNF20	103359697	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.474000	0.81024	2.512000	0.84698	0.411000	0.27672	CAG		0.388	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	30	0	0	0	0.001984	0	7	30				
SIM1	6492	broad.mit.edu	37	6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T	rs374696271		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:100896434C>T	ENST00000369208.3	-	7	1446	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	SIM1_ENST00000262901.4_Missense_Mutation_p.V222I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	222	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(664-666)Gtc>Atc		single-minded family bHLH transcription factor 1							60.0	52.0	54.0					6																	100896434		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896434C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.664G>A	6.37:g.100896434C>T	ENSP00000358210:p.Val222Ile					SIM1_ENST00000262901.4_Missense_Mutation_p.V222I	p.V222I			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	7	1446	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	222			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.664G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550703	0.27739	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.70399	-0.48;-0.48	5.57	5.57	0.84162	PAS (1);	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	N	0.00408	-1.53	0.80722	D	1	P	0.37997	0.614	B	0.21917	0.037	T	0.56165	-0.8024	10	0.06236	T	0.91	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	222	P81133	SIM1_HUMAN	I	222	ENSP00000358210:V222I;ENSP00000262901:V222I	ENSP00000262901:V222I	V	-	1	0	SIM1	101003155	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.625000	0.61262	2.614000	0.88457	0.655000	0.94253	GTC		0.602	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		8	7	0	0	0	0.003080	0	8	7				
KCND2	3751	broad.mit.edu	37	7	119914945	119914945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:119914945C>G	ENST00000331113.4	+	1	1224	c.259C>G	c.(259-261)Cgt>Ggt	p.R87G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTTCTTTGACCGTGACCCAGA	0.527																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(259-261)Cgt>Ggt		potassium voltage-gated channel, Shal-related subfamily, member 2							134.0	137.0	136.0					7																	119914945		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914945C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.259C>G	7.37:g.119914945C>G	ENSP00000333496:p.Arg87Gly						p.R87G	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1224	+	all_neural(327;0.117)		87			Interaction with KCNIP1 (By similarity).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.259C>G	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743532	0.69418	.	.	ENSG00000184408	ENST00000331113	D	0.90069	-2.61	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	H	0.97587	4.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97479	1.0046	9	.	.	.	.	14.2875	0.66256	0.1486:0.8514:0.0:0.0	.	87	Q9NZV8	KCND2_HUMAN	G	87	ENSP00000333496:R87G	.	R	+	1	0	KCND2	119702181	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.930000	0.70104	2.603000	0.88011	0.655000	0.94253	CGT		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		39	119	0	0	0	0.005524	0	39	119				
IL18R1	8809	broad.mit.edu	37	2	103006518	103006518	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:103006518G>T	ENST00000409599.1	+	10	1308	c.952G>T	c.(952-954)Gac>Tac	p.D318Y	IL18R1_ENST00000233957.1_Missense_Mutation_p.D318Y			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	318					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTTCTAGCAGACATGGCTGA	0.403																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(952-954)Gac>Tac		interleukin 18 receptor 1							141.0	122.0	129.0					2																	103006518		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103006518G>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.952G>T	2.37:g.103006518G>T	ENSP00000387211:p.Asp318Tyr					IL18R1_ENST00000233957.1_Missense_Mutation_p.D318Y	p.D318Y			Q13478	IL18R_HUMAN			10	1308	+			318					B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.952G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872416	0.33069	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01665	4.7;4.7;4.7	5.78	3.97	0.46021	.	1.249380	0.05724	N	0.598289	T	0.03564	0.0102	L	0.57536	1.79	0.21290	N	0.999736	P	0.44877	0.845	B	0.41571	0.36	T	0.47045	-0.9147	10	0.54805	T	0.06	.	7.555	0.27819	0.1537:0.151:0.6954:0.0	.	318	Q13478	IL18R_HUMAN	Y	318	ENSP00000386663:D318Y;ENSP00000387211:D318Y;ENSP00000233957:D318Y	ENSP00000233957:D318Y	D	+	1	0	IL18R1	102372950	0.010000	0.17322	0.003000	0.11579	0.102000	0.19082	1.739000	0.38217	0.778000	0.33520	-0.136000	0.14681	GAC		0.403	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		19	26	1	0	2.35188e-11	0.006122	3.68511e-11	19	26				
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	5'UTR	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:48196010C>T	ENST00000427332.2	-	0	106				HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000080059.7_Missense_Mutation_p.A23T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(67-69)Gca>Aca		histone deacetylase 7							41.0	42.0	42.0					12																	48196010		1885	4110	5995	SO:0001623	5_prime_UTR_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48196010C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.-51G>A	12.37:g.48196010C>T			OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T	p.A23T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	2	66	-			207			Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	C	5.673	0.308718	0.10733	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000380610;ENST00000430670	T;T;T;T	0.56275	0.53;0.6;0.47;1.0	5.34	-0.178	0.13303	.	1.715750	0.03877	N	0.276633	T	0.30262	0.0759	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20505	-1.0273	10	0.27785	T	0.31	.	4.6103	0.12399	0.0:0.1729:0.3144:0.5127	.	23;23	Q8WUI4-5;Q8WUI4-7	.;.	T	23;23;40;23	ENSP00000080059:A23T;ENSP00000351326:A23T;ENSP00000369984:A40T;ENSP00000396159:A23T	ENSP00000080059:A23T	A	-	1	0	HDAC7	46482277	1.000000	0.71417	0.971000	0.41717	0.889000	0.51656	0.296000	0.19083	0.077000	0.16863	-0.295000	0.09555	GCA		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			7	21	0	0	0	0.006214	0	7	21				
EXOC3	11336	broad.mit.edu	37	5	453741	453741	+	Silent	SNP	C	C	T	rs3822755	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:453741C>T	ENST00000512944.1	+	4	810	c.621C>T	c.(619-621)acC>acT	p.T207T	EXOC3_ENST00000315013.5_Silent_p.T207T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	218					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGACCCCACCTTGCTGGTCT	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		22098	0.003		0.0	False		,,,				2504	0.0					ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(619-621)acC>acT		exocyst complex component 3							100.0	100.0	100.0					5																	453741		2013	4180	6193	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:453741C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.621C>T	5.37:g.453741C>T						EXOC3_ENST00000315013.5_Silent_p.T207T	p.T207T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	810	+		Ovarian(839;0.0563)	218					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.621C>T	CCDS54830.1																																																																																				0.547	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		38	89	0	0	0	0.006230	0	38	89				
FLG	2312	broad.mit.edu	37	1	152281946	152281946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:152281946A>C	ENST00000368799.1	-	3	5451	c.5416T>G	c.(5416-5418)Tcc>Gcc	p.S1806A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1806	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTTGGGACGCTGAGTGC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5416-5418)Tcc>Gcc		filaggrin							317.0	327.0	323.0					1																	152281946		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281946A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5416T>G	1.37:g.152281946A>C	ENSP00000357789:p.Ser1806Ala					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1806A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5451	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1806			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5416T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	4.537	0.099658	0.08681	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03496	3.91	2.68	-5.36	0.02689	.	.	.	.	.	T	0.02929	0.0087	M	0.81682	2.555	0.09310	N	1	P	0.44690	0.841	P	0.54238	0.746	T	0.04191	-1.0970	9	0.41790	T	0.15	-0.27	1.1111	0.01704	0.2004:0.1457:0.3654:0.2885	.	1806	P20930	FILA_HUMAN	A	1806;41	ENSP00000357789:S1806A	ENSP00000271820:S41A	S	-	1	0	FLG	150548570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-2.060000	0.00893	0.378000	0.23410	TCC		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		96	393	0	0	0	0.003610	0	96	393				
RAD51	5888	broad.mit.edu	37	15	41022163	41022163	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:41022163C>T	ENST00000267868.3	+	9	1155	c.887C>T	c.(886-888)tCa>tTa	p.S296L	RAD51_ENST00000530766.1_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.S297L|RAD51_ENST00000423169.2_Intron|RAD51_ENST00000532743.1_Missense_Mutation_p.S297L|RAD51_ENST00000557850.1_Missense_Mutation_p.S199L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	296					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCCCATGCATCAACAACCAGG	0.408								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(886-888)tCa>tTa	Homologous recombination	RAD51 recombinase							88.0	78.0	82.0					15																	41022163		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41022163C>T	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.887C>T	15.37:g.41022163C>T	ENSP00000267868:p.Ser296Leu					RAD51_ENST00000557850.1_Missense_Mutation_p.S199L|RAD51_ENST00000423169.2_Intron|RAD51_ENST00000532743.1_Missense_Mutation_p.S297L|RAD51_ENST00000382643.3_Missense_Mutation_p.S297L|RAD51_ENST00000530766.1_Intron	p.S296L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	9	1155	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	296					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.887C>T	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349089	0.95830	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.54071	0.59;0.59;0.59	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.073507	0.64402	D	0.000006	T	0.76891	0.4051	M	0.88704	2.975	0.80722	D	1	D;D	0.63046	0.992;0.992	D;P	0.66351	0.943;0.899	T	0.81797	-0.0768	10	0.87932	D	0	-7.5164	18.6898	0.91578	0.0:1.0:0.0:0.0	.	297;296	Q6ZNA8;Q06609	.;RAD51_HUMAN	L	199;296;297;297	ENSP00000267868:S296L;ENSP00000433924:S297L;ENSP00000372088:S297L	ENSP00000267868:S296L	S	+	2	0	RAD51	38809455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.477000	0.81069	2.639000	0.89480	0.655000	0.94253	TCA		0.408	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		19	23	0	0	0	0.007413	0	19	23				
RHOT2	89941	broad.mit.edu	37	16	723125	723125	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:723125C>T	ENST00000315082.4	+	18	1839	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A	RHBDL1_ENST00000352681.3_5'Flank|RHBDL1_ENST00000219551.2_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	575	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCATGGCCGCCTTCCCGTGGG	0.667																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1723-1725)gcC>gcT		ras homolog family member T2							28.0	30.0	30.0					16																	723125		2187	4291	6478	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:723125C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1725C>T	16.37:g.723125C>T							p.A575A	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			18	1839	+		Hepatocellular(780;0.0218)	575			Miro 2.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1725C>T	CCDS10417.1																																																																																				0.667	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		6	24	0	0	0	0.001168	0	6	24				
OSBPL7	114881	broad.mit.edu	37	17	45890757	45890757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45890757C>T	ENST00000007414.3	-	16	1803	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A538T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	538					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGCAAAGGCTGCGATGTAC	0.622																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1612-1614)Gcc>Acc		oxysterol binding protein-like 7							53.0	54.0	54.0					17																	45890757		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45890757C>T	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1612G>A	17.37:g.45890757C>T	ENSP00000007414:p.Ala538Thr					OSBPL7_ENST00000392507.3_Missense_Mutation_p.A538T	p.A538T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			16	1803	-			538					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1612G>A	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852067	0.71719	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.33865	1.39;1.39	5.0	4.0	0.46444	.	0.336563	0.30930	N	0.008589	T	0.44498	0.1296	M	0.62154	1.92	0.43852	D	0.996448	P	0.47034	0.889	P	0.47786	0.557	T	0.47509	-0.9112	10	0.62326	D	0.03	-24.9774	14.0301	0.64610	0.0:0.847:0.153:0.0	.	538	Q9BZF2	OSBL7_HUMAN	T	538	ENSP00000007414:A538T;ENSP00000376295:A538T	ENSP00000007414:A538T	A	-	1	0	OSBPL7	43245756	1.000000	0.71417	0.939000	0.37840	0.688000	0.40055	4.944000	0.63561	1.039000	0.40074	0.655000	0.94253	GCC		0.622	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		15	28	0	0	0	0.003163	0	15	28				
CCL28	56477	broad.mit.edu	37	5	43382119	43382119	+	Missense_Mutation	SNP	G	G	T	rs370644785		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:43382119G>T	ENST00000361115.4	-	3	301	c.227C>A	c.(226-228)cCg>cAg	p.P76Q	CCL28_ENST00000513525.1_Missense_Mutation_p.P29Q|CCL28_ENST00000537013.1_Missense_Mutation_p.R109S	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	76					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						ATGGTTGTGCGGGCTGACACA	0.403																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(226-228)cCg>cAg		chemokine (C-C motif) ligand 28							139.0	113.0	122.0					5																	43382119		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382119G>T	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.227C>A	5.37:g.43382119G>T	ENSP00000354416:p.Pro76Gln					CCL28_ENST00000513525.1_Missense_Mutation_p.P29Q|CCL28_ENST00000537013.1_Missense_Mutation_p.R109S	p.P76Q	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN			3	301	-			76					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.227C>A	CCDS3944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384393|4.384393	0.82792|0.82792	.|.	.|.	ENSG00000151882|ENSG00000151882	ENST00000361115;ENST00000513525|ENST00000537013	T;T|T	0.18657|0.12984	2.2;2.2|2.63	5.44|5.44	5.44|5.44	0.79542|0.79542	Chemokine interleukin-8-like domain (3);|.	0.000000|.	0.56097|.	D|.	0.000032|.	T|T	0.29716|0.29716	0.0742|0.0742	M|M	0.76938|0.76938	2.355|2.355	0.27833|0.27833	N|N	0.941386|0.941386	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.06770|0.06770	-1.0808|-1.0808	10|7	0.87932|0.28530	D|T	0|0.3	-5.2234|-5.2234	14.6356|14.6356	0.68686|0.68686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76|.	Q9NRJ3|.	CCL28_HUMAN|.	Q|S	76;29|109	ENSP00000354416:P76Q;ENSP00000422369:P29Q|ENSP00000443823:R109S	ENSP00000354416:P76Q|ENSP00000443823:R109S	P|R	-|-	2|1	0|0	CCL28|CCL28	43417876|43417876	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.941000|0.941000	0.58515|0.58515	4.975000|4.975000	0.63777|0.63777	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.403	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		4	104	1	0	0.000602214	0.000602	0.000866344	4	104				
TBCEL	219899	broad.mit.edu	37	11	120957653	120957653	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:120957653C>G	ENST00000529397.1	+	8	1223	c.1123C>G	c.(1123-1125)Cta>Gta	p.L375V	TBCEL_ENST00000422003.2_Missense_Mutation_p.L375V	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	375	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTTAAAAACTCTAGTACAATT	0.433																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1123-1125)Cta>Gta		tubulin folding cofactor E-like							118.0	111.0	113.0					11																	120957653		2203	4299	6502	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120957653C>G	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1123C>G	11.37:g.120957653C>G	ENSP00000437184:p.Leu375Val					TBCEL_ENST00000529397.1_Missense_Mutation_p.L375V	p.L375V	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	8	1311	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	375			Ubiquitin-like.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.1123C>G	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758523	0.31137	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.35789	1.29;1.29	5.88	4.97	0.65823	Ubiquitin supergroup (1);	0.195824	0.44483	D	0.000446	T	0.19087	0.0458	N	0.11064	0.09	0.42326	D	0.992277	B	0.02656	0.0	B	0.04013	0.001	T	0.05750	-1.0866	10	0.39692	T	0.17	0.0775	7.8511	0.29455	0.0:0.7106:0.1439:0.1454	.	375	Q5QJ74	TBCEL_HUMAN	V	375;375;178	ENSP00000437184:L375V;ENSP00000403925:L375V	ENSP00000403925:L375V	L	+	1	2	TBCEL	120462863	0.899000	0.30636	1.000000	0.80357	0.900000	0.52787	0.691000	0.25467	1.481000	0.48307	0.655000	0.94253	CTA		0.433	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		4	14	0	0	0	0.000248	0	4	14				
PRPF39	55015	broad.mit.edu	37	14	45564523	45564523	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:45564523T>A	ENST00000355765.6	+	2	251	c.81T>A	c.(79-81)caT>caA	p.H27Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	27					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H27H(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TGGTAGAACATCCTACTGATT	0.393																																						ENST00000355765.6																			1	Substitution - coding silent(1)	p.H27H(1)	endometrium(1)	breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(79-81)caT>caA		pre-mRNA processing factor 39							128.0	126.0	127.0					14																	45564523		1987	4166	6153	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45564523T>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.81T>A	14.37:g.45564523T>A	ENSP00000348010:p.His27Gln						p.H27Q	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			2	251	+			27					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.81T>A	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	T	5.193	0.221088	0.09863	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T	0.39229	1.09	5.93	-3.95	0.04118	.	.	.	.	.	T	0.19167	0.0460	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28713	-1.0035	9	0.11182	T	0.66	-19.163	2.5911	0.04843	0.2025:0.0806:0.4539:0.263	.	27	Q86UA1	PRP39_HUMAN	Q	27	ENSP00000348010:H27Q	ENSP00000348010:H27Q	H	+	3	2	PRPF39	44634273	0.703000	0.27826	0.001000	0.08648	0.986000	0.74619	0.685000	0.25378	-0.762000	0.04664	0.482000	0.46254	CAT		0.393	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			7	422	0	0	0	0.001984	0	7	422				
CEBPZ	10153	broad.mit.edu	37	2	37449559	37449559	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:37449559C>G	ENST00000234170.5	-	4	2174	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	677					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAAGCAACCTCTGGTTTTTTG	0.353																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2029-2031)Gag>Cag		CCAAT/enhancer binding protein (C/EBP), zeta							144.0	139.0	141.0					2																	37449559		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37449559C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2029G>C	2.37:g.37449559C>G	ENSP00000234170:p.Glu677Gln						p.E677Q	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			4	2174	-		all_hematologic(82;0.21)	677					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2029G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.822884	0.16678	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.14144	2.53	5.57	-1.24	0.09435	Armadillo-type fold (1);CCAAT-binding factor (1);	1.302460	0.05029	N	0.474225	T	0.15003	0.0362	M	0.67700	2.07	0.09310	N	1	P	0.34800	0.469	B	0.31101	0.124	T	0.31081	-0.9956	10	0.87932	D	0	.	5.4379	0.16492	0.0:0.3617:0.1435:0.4948	.	677	Q03701	CEBPZ_HUMAN	Q	677	ENSP00000234170:E677Q	ENSP00000234170:E677Q	E	-	1	0	CEBPZ	37303063	0.003000	0.15002	0.000000	0.03702	0.017000	0.09413	0.389000	0.20751	-0.471000	0.06891	-0.157000	0.13467	GAG		0.353	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		11	74	0	0	0	0.001368	0	11	74				
ZBTB32	27033	broad.mit.edu	37	19	36205889	36205889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:36205889G>A	ENST00000392197.2	+	3	679	c.361G>A	c.(361-363)Gat>Aat	p.D121N	ZBTB32_ENST00000262630.3_Missense_Mutation_p.D121N			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	121					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAAAAAGCCAGATCCAGGCCT	0.587																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(361-363)Gat>Aat		zinc finger and BTB domain containing 32							46.0	49.0	48.0					19																	36205889		2203	4300	6503	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205889G>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.361G>A	19.37:g.36205889G>A	ENSP00000376035:p.Asp121Asn					ZBTB32_ENST00000262630.3_Missense_Mutation_p.D121N	p.D121N			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	679	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		121					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.361G>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229647	0.22542	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09163	3.01;3.01	5.41	3.02	0.34903	.	0.482466	0.17681	N	0.165630	T	0.06735	0.0172	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29150	-1.0021	10	0.33940	T	0.23	0.0322	6.4852	0.22085	0.1079:0.0:0.7194:0.1728	.	121	Q9Y2Y4	ZBT32_HUMAN	N	121	ENSP00000262630:D121N;ENSP00000376035:D121N	ENSP00000262630:D121N	D	+	1	0	ZBTB32	40897729	0.001000	0.12720	0.011000	0.14972	0.009000	0.06853	0.070000	0.14573	1.292000	0.44672	0.655000	0.94253	GAT		0.587	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		182	322	0	0	0	0.003610	0	182	322				
TESPA1	9840	broad.mit.edu	37	12	55356372	55356372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:55356372C>A	ENST00000449076.1	-	9	1442	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I	TESPA1_ENST00000531122.1_Missense_Mutation_p.R299I|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.R299I|TESPA1_ENST00000316577.8_Missense_Mutation_p.R437I|TESPA1_ENST00000524622.1_Missense_Mutation_p.R299I	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	437					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTTTCTTGCTCTGCTCTTTCT	0.493																																						ENST00000524622.1																			0											c.(895-897)aGa>aTa		thymocyte expressed, positive selection associated 1							170.0	170.0	170.0					12																	55356372		1921	4126	6047	SO:0001583	missense	9840							g.chr12:55356372C>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1310G>T	12.37:g.55356372C>A	ENSP00000400892:p.Arg437Ile					TESPA1_ENST00000449076.1_Missense_Mutation_p.R437I|TESPA1_ENST00000316577.8_Missense_Mutation_p.R437I|TESPA1_ENST00000531122.1_Missense_Mutation_p.R299I|TESPA1_ENST00000532804.1_Missense_Mutation_p.R299I	p.R299I	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1557	-			437					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.896G>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422808	0.43020	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.51574	0.7;0.7;0.72;0.72;0.7	4.43	-3.01	0.05463	.	0.504063	0.17607	N	0.168204	T	0.29684	0.0741	L	0.29908	0.895	0.39043	D	0.96016	B	0.27791	0.189	B	0.30646	0.118	T	0.03095	-1.1073	10	0.54805	T	0.06	-3.0404	6.0337	0.19694	0.0:0.2233:0.155:0.6217	.	437	A2RU30	K0748_HUMAN	I	299;37;299;437;437;299	ENSP00000435622:R299I;ENSP00000432030:R299I;ENSP00000400892:R437I;ENSP00000312679:R437I;ENSP00000433098:R299I	ENSP00000312679:R437I	R	-	2	0	KIAA0748	53642639	0.911000	0.30947	0.961000	0.40146	0.912000	0.54170	-0.513000	0.06305	-0.541000	0.06257	-0.140000	0.14226	AGA		0.493	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		39	212	1	0	2.75727e-19	0.004878	4.55228e-19	39	212				
FLT4	2324	broad.mit.edu	37	5	180038443	180038443	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:180038443G>C	ENST00000261937.6	-	27	3652	c.3574C>G	c.(3574-3576)Cag>Gag	p.Q1192E	FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192E|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGAGCTCTGAGAGCTGCGC	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3574-3576)Cag>Gag		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						65.0	69.0	67.0					5																	180038443		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038443G>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3574C>G	5.37:g.180038443G>C	ENSP00000261937:p.Gln1192Glu					FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192E|FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192E	p.Q1192E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3652	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1192					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3574C>G	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772862	0.31411	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76186	-1.0;-0.99;-0.99	4.34	4.34	0.51931	.	.	.	.	.	T	0.48187	0.1486	N	0.08118	0	0.50313	D	0.999869	P;B	0.34892	0.474;0.142	B;B	0.26094	0.066;0.044	T	0.56805	-0.7918	9	0.02654	T	1	.	15.5739	0.76359	0.0:0.0:1.0:0.0	.	1192;1192	E9PD35;P35916	.;VGFR3_HUMAN	E	1192	ENSP00000261937:Q1192E;ENSP00000377016:Q1192E;ENSP00000426057:Q1192E	ENSP00000261937:Q1192E	Q	-	1	0	FLT4	179971049	1.000000	0.71417	0.982000	0.44146	0.540000	0.34992	7.358000	0.79466	2.400000	0.81607	0.555000	0.69702	CAG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	78	0	0	0	0.000602	0	5	78				
CUX2	23316	broad.mit.edu	37	12	111758419	111758419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:111758419C>T	ENST00000261726.6	+	17	2760	c.2606C>T	c.(2605-2607)cCg>cTg	p.P869L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	869					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCTACTACCCGGCCTACGTG	0.726																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2605-2607)cCg>cTg		cut-like homeobox 2							5.0	7.0	6.0					12																	111758419		2076	4131	6207	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758419C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2606C>T	12.37:g.111758419C>T	ENSP00000261726:p.Pro869Leu						p.P869L	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2760	+			869					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2606C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505036	0.85282	.	.	ENSG00000111249	ENST00000261726	T	0.56941	0.43	4.23	4.23	0.50019	.	0.055211	0.64402	D	0.000001	T	0.61489	0.2351	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.63734	-0.6570	10	0.45353	T	0.12	-8.5053	16.6821	0.85295	0.0:1.0:0.0:0.0	.	869	O14529	CUX2_HUMAN	L	869	ENSP00000261726:P869L	ENSP00000261726:P869L	P	+	2	0	CUX2	110242802	1.000000	0.71417	0.888000	0.34837	0.940000	0.58332	7.414000	0.80117	1.924000	0.55735	0.289000	0.19496	CCG		0.726	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	2	0	0	0	0.000602	0	5	2				
ATG4D	84971	broad.mit.edu	37	19	10665783	10665783	+	IGR	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:10665783G>C	ENST00000309469.4	+	0	1949				MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000312962.6_Missense_Mutation_p.F593L|KRI1_ENST00000361821.5_Missense_Mutation_p.F589L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGAGTGACTTGAAGACCTGCC	0.602																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1777-1779)ttC>ttG		KRI1 homolog (S. cerevisiae)							71.0	68.0	69.0					19																	10665783		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665783G>C	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665783G>C						KRI1_ENST00000361821.5_Missense_Mutation_p.F589L	p.F593L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1798	-			593					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1779C>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	5.172	0.217234	0.09810	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08720	3.24;3.06	5.12	-0.158	0.13383	Kri1-like, C-terminal (1);	0.136644	0.50627	D	0.000110	T	0.01870	0.0059	N	0.01352	-0.895	0.41529	D	0.988442	B;B	0.18310	0.014;0.027	B;B	0.23150	0.024;0.044	T	0.44907	-0.9297	10	0.18710	T	0.47	-26.0824	0.2569	0.00213	0.263:0.1964:0.2987:0.2418	.	593;589	Q8N9T8;D3YTE0	KRI1_HUMAN;.	L	593;589	ENSP00000320917:F593L;ENSP00000355366:F589L	ENSP00000320917:F593L	F	-	3	2	KRI1	10526783	0.763000	0.28462	1.000000	0.80357	0.895000	0.52256	0.069000	0.14552	0.565000	0.29255	0.563000	0.77884	TTC		0.602	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		8	43	0	0	0	0.004482	0	8	43				
ICE1	23379	broad.mit.edu	37	5	5461339	5461339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:5461339C>T	ENST00000296564.7	+	13	2114	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		631					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACCAGTTTTTCTTCCTCTTCT	0.413																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1891-1893)tCt>tTt		KIAA0947							104.0	105.0	105.0					5																	5461339		1900	4128	6028	SO:0001583	missense	23379							g.chr5:5461339C>T																												ENST00000296564.7:c.1892C>T	5.37:g.5461339C>T	ENSP00000296564:p.Ser631Phe						p.S631F	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2114	+			631					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1892C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384187	0.42308	.	.	ENSG00000164151	ENST00000296564	T	0.12465	2.68	4.73	1.26	0.21427	.	1.128570	0.06603	N	0.754258	T	0.07234	0.0183	N	0.24115	0.695	0.09310	N	1	B	0.28208	0.203	B	0.24006	0.05	T	0.40232	-0.9574	10	0.14656	T	0.56	-3.3182	1.1127	0.01707	0.2337:0.3872:0.2291:0.1499	.	631	Q9Y2F5	K0947_HUMAN	F	631	ENSP00000296564:S631F	ENSP00000296564:S631F	S	+	2	0	KIAA0947	5514339	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	1.055000	0.30467	0.368000	0.24481	0.305000	0.20034	TCT		0.413	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			17	96	0	0	0	0.004007	0	17	96				
GUSBP1	728411	broad.mit.edu	37	5	21497247	21497247	+	RNA	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:21497247A>G	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GGTGTAAGACATCACAATCCC	0.493																																						ENST00000607545.1																			0																																																			728411							g.chr5:21497247A>G	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497247A>G								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.493	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		13	63	0	0	0	0.001855	0	13	63				
CCDC146	57639	broad.mit.edu	37	7	76891594	76891594	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:76891594T>C	ENST00000285871.4	+	9	1270	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.T127T	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	381										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTAGGCAAACTCAAGCACTGC	0.378																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(1141-1143)acT>acC		coiled-coil domain containing 146							85.0	84.0	85.0					7																	76891594		2203	4300	6503	SO:0001819	synonymous_variant	57639							g.chr7:76891594T>C	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1143T>C	7.37:g.76891594T>C						CCDC146_ENST00000431197.1_Silent_p.T127T|CCDC146_ENST00000415740.2_3'UTR	p.T381T	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			9	1270	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	381					A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	c.1143T>C	CCDS34671.1																																																																																				0.378	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		11	51	0	0	0	0.008291	0	11	51				
SULF1	23213	broad.mit.edu	37	8	70515533	70515533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:70515533G>A	ENST00000260128.4	+	11	1885	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	SULF1_ENST00000419716.3_Missense_Mutation_p.D390N|SULF1_ENST00000458141.2_Missense_Mutation_p.D390N|SULF1_ENST00000402687.4_Missense_Mutation_p.D390N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	390					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1168-1170)Gac>Aac		sulfatase 1							161.0	141.0	148.0					8																	70515533		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515533G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1168G>A	8.37:g.70515533G>A	ENSP00000260128:p.Asp390Asn					SULF1_ENST00000458141.2_Missense_Mutation_p.D390N|SULF1_ENST00000402687.4_Missense_Mutation_p.D390N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D390N	p.D390N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		11	1885	+	Breast(64;0.0654)		390					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1168G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504396	0.85176	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.043993	0.85682	D	0.000000	D	0.94637	0.8271	L	0.45137	1.4	0.58432	D	0.999999	B	0.18166	0.026	B	0.22753	0.041	D	0.89874	0.4025	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	390	Q8IWU6	SULF1_HUMAN	N	390	ENSP00000403040:D390N;ENSP00000260128:D390N;ENSP00000385704:D390N;ENSP00000390315:D390N	ENSP00000260128:D390N	D	+	1	0	SULF1	70678087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.552	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	124	0	0	0	0.003080	0	7	124				
SLC10A5	347051	broad.mit.edu	37	8	82606646	82606646	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82606646T>G	ENST00000518568.1	-	1	1763	c.562A>C	c.(562-564)Atg>Ctg	p.M188L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	188						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAATGGCATCAGAAAAAAC	0.463																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(562-564)Atg>Ctg		solute carrier family 10, member 5							55.0	61.0	59.0					8																	82606646		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606646T>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.562A>C	8.37:g.82606646T>G	ENSP00000428612:p.Met188Leu						p.M188L	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1763	-			188					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.562A>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571015	0.86542	.	.	ENSG00000253598	ENST00000518568	T	0.11821	2.74	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000002	T	0.35189	0.0923	M	0.77313	2.365	0.49130	D	0.999759	D	0.60160	0.987	P	0.59357	0.856	T	0.06917	-1.0800	10	0.54805	T	0.06	-31.0796	14.6542	0.68820	0.0:0.0:0.0:1.0	.	188	Q5PT55	NTCP5_HUMAN	L	188	ENSP00000428612:M188L	ENSP00000428612:M188L	M	-	1	0	SLC10A5	82769201	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	4.856000	0.62932	2.343000	0.79666	0.533000	0.62120	ATG		0.463	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		20	102	0	0	0	0.008871	0	20	102				
TDP1	55775	broad.mit.edu	37	14	90509414	90509414	+	Splice_Site	SNP	A	A	G	rs148839664		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:90509414A>G	ENST00000335725.4	+	17	2004	c.1754A>G	c.(1753-1755)gAt>gGt	p.D585G	TDP1_ENST00000393454.2_Splice_Site_p.D585G|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000555880.1_Splice_Site_p.I549V|TDP1_ENST00000357382.3_Splice_Site_p.D346G	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	585					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTTCCCCCAGATCGGCCATGG	0.418								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.e17-1	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1		A	GLY/ASP,GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	112.0	103.0	107.0		1754,1754	5.6	1.0	14	dbSNP_134	107	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	TDP1	NM_001008744.1,NM_018319.3	94,94	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	585/609,585/609	90509414	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509414A>G	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1754-1A>G	14.37:g.90509414A>G						TDP1_ENST00000357382.3_Splice_Site_p.D346_splice|TDP1_ENST00000555880.1_Splice_Site_p.I549_splice|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Splice_Site_p.D585_splice	p.D585_splice	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	17	2004	+		all_cancers(154;0.185)	585					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Splice_Site	SNP	ENST00000335725.4	37	c.1753_splice	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.179|5.179	0.218651|0.218651	0.09810|0.09810	2.27E-4|2.27E-4	0.0|0.0	ENSG00000042088|ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382|ENST00000555880	T;T;T|T	0.72725|0.62232	-0.68;-0.68;-0.68|0.04	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67230|0.67230	0.2871|0.2871	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D;D|B	0.64830|0.30937	0.974;0.994|0.301	P;P|B	0.60173|0.28638	0.721;0.87|0.092	T|T	0.68899|0.68899	-0.5287|-0.5287	9|8	.|.	.|.	.|.	.|.	12.1027|12.1027	0.53794|0.53794	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	346;585|549	Q86TV8;Q9NUW8|G3V2F4	.;TYDP1_HUMAN|.	G|V	585;585;346|549	ENSP00000377099:D585G;ENSP00000337353:D585G;ENSP00000349952:D346G|ENSP00000450628:I549V	.|.	D|I	+|+	2|1	0|0	TDP1|TDP1	89579167|89579167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.698000|5.698000	0.68302|0.68302	2.115000|2.115000	0.64714|0.64714	0.528000|0.528000	0.53228|0.53228	GAT|ATC		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	Missense_Mutation	11	129	0	0	0	0.001855	0	11	129				
NKTR	4820	broad.mit.edu	37	3	42660540	42660540	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:42660540G>C	ENST00000232978.8	+	4	350	c.162G>C	c.(160-162)ggG>ggC	p.G54G	RP4-613B23.1_ENST00000438017.1_RNA|NKTR_ENST00000442970.1_Silent_p.G54G|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	54	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACAACTGGGAAGAAGTTAT	0.348																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(160-162)ggG>ggC		natural killer-tumor recognition sequence							147.0	160.0	156.0					3																	42660540		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42660540G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.162G>C	3.37:g.42660540G>C						RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Silent_p.G54G|RP4-613B23.1_ENST00000438017.1_RNA	p.G54G	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	4	350	+			54			PPIase cyclophilin-type.			Silent	SNP	ENST00000232978.8	37	c.162G>C	CCDS2702.1																																																																																				0.348	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		10	28	0	0	0	0.006214	0	10	28				
SERPINC1	462	broad.mit.edu	37	1	173883822	173883822	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:173883822T>G	ENST00000367698.3	-	2	395	c.277A>C	c.(277-279)Act>Cct	p.T93P	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	93					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TGATAGAAAGTGGTAGCAAAG	0.522											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(277-279)Act>Cct		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						136.0	130.0	132.0					1																	173883822		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883822T>G	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.277A>C	1.37:g.173883822T>G	ENSP00000356671:p.Thr93Pro		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911	SERPINC1_ENST00000494024.1_5'UTR	p.T93P	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			2	395	-			93					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.277A>C	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286312	0.40494	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.84442	-1.85	5.67	-6.89	0.01660	Serpin domain (3);	0.819708	0.11457	N	0.562158	T	0.58235	0.2108	L	0.29908	0.895	0.09310	N	1	B	0.33318	0.408	B	0.36534	0.227	T	0.56842	-0.7912	10	0.32370	T	0.25	.	10.7671	0.46299	0.0923:0.6082:0.0:0.2995	.	93	P01008	ANT3_HUMAN	P	93	ENSP00000356671:T93P	ENSP00000307953:T93P	T	-	1	0	SERPINC1	172150445	0.000000	0.05858	0.064000	0.19789	0.942000	0.58702	-0.979000	0.03774	-0.770000	0.04614	-0.441000	0.05720	ACT		0.522	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		24	85	0	0	0	0.002299	0	24	85				
SLCO6A1	133482	broad.mit.edu	37	5	101813510	101813510	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:101813510G>C	ENST00000506729.1	-	3	843	c.672C>G	c.(670-672)ttC>ttG	p.F224L	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F224L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATTTTGATTGGAATGATATAC	0.353																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(670-672)ttC>ttG		solute carrier organic anion transporter family, member 6A1							175.0	170.0	172.0					5																	101813510		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101813510G>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.672C>G	5.37:g.101813510G>C	ENSP00000421339:p.Phe224Leu					SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F224L	p.F224L			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	3	843	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	224					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.672C>G	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811342	0.32053	.	.	ENSG00000205359	ENST00000506729;ENST00000379807	T;T	0.79940	-1.32;-1.32	5.11	3.16	0.36331	Major facilitator superfamily domain, general substrate transporter (1);	0.082950	0.50627	D	0.000117	T	0.73830	0.3637	L	0.36672	1.1	0.09310	N	1	D	0.53312	0.959	P	0.53102	0.718	T	0.61959	-0.6955	10	0.12766	T	0.61	.	5.2878	0.15710	0.1228:0.2249:0.6523:0.0	.	224	Q86UG4	SO6A1_HUMAN	L	224	ENSP00000421339:F224L;ENSP00000369135:F224L	ENSP00000369135:F224L	F	-	3	2	SLCO6A1	101841409	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.153000	0.10144	1.286000	0.44565	0.591000	0.81541	TTC		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		21	76	0	0	0	0.001882	0	21	76				
CNTLN	54875	broad.mit.edu	37	9	17388167	17388167	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:17388167C>G	ENST00000380647.3	+	14	2079	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	CNTLN_ENST00000425824.1_Silent_p.L665L|CNTLN_ENST00000262360.5_Silent_p.L665L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	665					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGAACAGCTCTTTAGATCTG	0.358																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1993-1995)ctC>ctG		centlein, centrosomal protein							111.0	113.0	112.0					9																	17388167		1824	4077	5901	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17388167C>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1995C>G	9.37:g.17388167C>G						CNTLN_ENST00000425824.1_Silent_p.L665L|CNTLN_ENST00000262360.5_Silent_p.L665L	p.L665L			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	14	2079	+			665					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.1995C>G	CCDS43789.1																																																																																				0.358	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	101	0	0	0	0.001855	0	14	101				
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:160999635C>A	ENST00000316300.5	-	27	4435	c.4391G>T	c.(4390-4392)cGa>cTa	p.R1464L	LPA_ENST00000447678.1_Missense_Mutation_p.R1464L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4390-4392)cGa>cTa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						150.0	159.0	156.0					6																	160999635		2163	4290	6453	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999635C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4391G>T	6.37:g.160999635C>A	ENSP00000321334:p.Arg1464Leu					LPA_ENST00000316300.5_Missense_Mutation_p.R1464L	p.R1464L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4511	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3972			Kringle 13.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4391G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	10.23	1.292055	0.23564	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67171	-0.25;-0.25	2.37	-2.12	0.07165	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.37892	0.1020	L	0.39397	1.21	0.09310	N	1	B	0.29671	0.254	B	0.40741	0.339	T	0.50491	-0.8822	9	0.25751	T	0.34	.	8.2452	0.31684	0.0:0.5209:0.0:0.4791	.	3972	P08519	APOA_HUMAN	L	1464	ENSP00000321334:R1464L;ENSP00000395608:R1464L	ENSP00000321334:R1464L	R	-	2	0	LPA	160919625	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-0.521000	0.06245	-1.289000	0.02375	-1.615000	0.00797	CGA		0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		14	68	1	0	3.27435e-08	0.002450	5.03432e-08	14	68				
PA2G4	5036	broad.mit.edu	37	12	56498590	56498590	+	Missense_Mutation	SNP	G	G	A	rs144476801		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:56498590G>A	ENST00000303305.6	+	1	488	c.69G>A	c.(67-69)atG>atA	p.M23I	RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.M23I	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	23	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTATAAGATGGGGGGCGACA	0.607																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(67-69)atG>atA		proliferation-associated 2G4, 38kDa		G	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	108.0	99.0	102.0		69	5.6	1.0	12	dbSNP_134	102	0,8600		0,0,4300	no	missense	PA2G4	NM_006191.2	10	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	23/395	56498590	1,13005	2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56498590G>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.69G>A	12.37:g.56498590G>A	ENSP00000302886:p.Met23Ile					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.M23I|RP11-603J24.9_ENST00000548861.1_Intron	p.M23I	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		1	488	+			23			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.69G>A	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996578	0.74818	2.27E-4	0.0	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	T;T	0.75938	-0.98;-0.98	5.62	5.62	0.85841	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	L	0.38838	1.175	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.14578	0.006;0.007;0.011	T	0.61217	-0.7107	10	0.34782	T	0.22	.	18.4306	0.90624	0.0:0.0:1.0:0.0	.	23;23;23	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	I	23;23;52;23;23	ENSP00000302886:M23I;ENSP00000448557:M23I	ENSP00000302886:M23I	M	+	3	0	PA2G4	54784857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.976000	0.93442	2.653000	0.90120	0.655000	0.94253	ATG		0.607	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		19	113	0	0	0	0.001523	0	19	113				
KIAA1549L	25758	broad.mit.edu	37	11	33566766	33566766	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:33566766C>A	ENST00000321505.4	+	2	2516	c.2336C>A	c.(2335-2337)aCa>aAa	p.T779K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T785K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T785K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	779						integral component of membrane (GO:0016021)											GCCGCGCTGACATCCATTACA	0.602																																						ENST00000321505.4																			0											c.(2335-2337)aCa>aAa		KIAA1549-like							80.0	97.0	91.0					11																	33566766		2186	4283	6469	SO:0001583	missense	25758							g.chr11:33566766C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2336C>A	11.37:g.33566766C>A	ENSP00000315295:p.Thr779Lys					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T785K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T785K	p.T779K							2	2516	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2336C>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.31|16.31	3.086546|3.086546	0.55861|0.55861	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.359902	.|0.29616	.|N	.|0.011642	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.64997|0.64997	1.995|1.995	0.35141|0.35141	D|D	0.768854|0.768854	.|D;D	.|0.69078	.|0.995;0.997	.|P;D	.|0.71656	.|0.82;0.974	T|T	0.76176|0.76176	-0.3055|-0.3055	5|9	.|0.36615	.|T	.|0.2	-7.3542|-7.3542	18.2527|18.2527	0.90009|0.90009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|785;785	.|E9PAT2;Q6ZVL6-2	.|.;.	N|K	177|779;785;785;618	.|.	.|ENSP00000265654:T785K	H|T	+|+	1|2	0|0	C11orf41|C11orf41	33523342|33523342	0.998000|0.998000	0.40836|0.40836	0.088000|0.088000	0.20740|0.20740	0.344000|0.344000	0.29017|0.29017	4.955000|4.955000	0.63638|0.63638	2.751000|2.751000	0.94390|0.94390	0.561000|0.561000	0.74099|0.74099	CAT|ACA		0.602	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		30	56	1	0	7.01153e-11	0.007291	1.0848e-10	30	56				
SOCS6	9306	broad.mit.edu	37	18	67993288	67993288	+	Missense_Mutation	SNP	A	A	G	rs370311027		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:67993288A>G	ENST00000397942.3	+	2	1700	c.1384A>G	c.(1384-1386)Atc>Gtc	p.I462V	SOCS6_ENST00000582322.1_Missense_Mutation_p.I462V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	462	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAGCATTCAATCAGGGACTC	0.448																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1384-1386)Atc>Gtc		suppressor of cytokine signaling 6		A	VAL/ILE	0,4406		0,0,2203	117.0	113.0	114.0		1384	3.2	1.0	18		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOCS6	NM_004232.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	462/536	67993288	1,13005	2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993288A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1384A>G	18.37:g.67993288A>G	ENSP00000381034:p.Ile462Val					SOCS6_ENST00000582322.1_Missense_Mutation_p.I462V	p.I462V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1700	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	462			SH2.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1384A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	9.426	1.084396	0.20309	0.0	1.16E-4	ENSG00000170677	ENST00000397942	T	0.20463	2.07	5.57	3.19	0.36642	SH2 motif (3);	0.118617	0.56097	D	0.000032	T	0.06508	0.0167	N	0.01096	-1.015	0.58432	D	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.25012	-1.0144	10	0.21540	T	0.41	-14.6363	9.6949	0.40152	0.8597:0.0:0.1403:0.0	.	462	O14544	SOCS6_HUMAN	V	462	ENSP00000381034:I462V	ENSP00000381034:I462V	I	+	1	0	SOCS6	66144268	1.000000	0.71417	0.952000	0.39060	0.981000	0.71138	4.241000	0.58707	0.409000	0.25649	0.374000	0.22700	ATC		0.448	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			7	41	0	0	0	0.004482	0	7	41				
RAD23B	5887	broad.mit.edu	37	9	110073972	110073972	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:110073972T>C	ENST00000358015.3	+	5	858	c.507T>C	c.(505-507)ggT>ggC	p.G169G	RAD23B_ENST00000416373.2_Silent_p.G97G	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	169					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTACATCGGGTGATTCTTCTC	0.294								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(505-507)ggT>ggC	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							86.0	81.0	83.0					9																	110073972		2203	4298	6501	SO:0001819	synonymous_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110073972T>C		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.507T>C	9.37:g.110073972T>C						RAD23B_ENST00000416373.2_Silent_p.G97G	p.G169G	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			5	858	+			169					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Silent	SNP	ENST00000358015.3	37	c.507T>C	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	T	9.634	1.137142	0.21123	.	.	ENSG00000119318	ENST00000457811	.	.	.	5.08	0.566	0.17317	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54781	-0.8242	4	.	.	.	-22.1063	10.9784	0.47480	0.2868:0.0:0.0:0.7132	.	.	.	.	A	39	.	.	V	+	2	0	RAD23B	109113793	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.963000	0.40452	0.318000	0.23185	-0.282000	0.10007	GTG		0.294	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		18	18	0	0	0	0.007413	0	18	18				
CRTAP	10491	broad.mit.edu	37	3	33174068	33174068	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:33174068C>A	ENST00000320954.6	+	5	1043	c.944C>A	c.(943-945)gCc>gAc	p.A315D	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Missense_Mutation_p.A272D	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	315					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAATGCAGCCCCCTGTGCA	0.473																																						ENST00000320954.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(943-945)gCc>gAc		cartilage associated protein							171.0	167.0	169.0					3																	33174068		2203	4300	6503	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33174068C>A	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.944C>A	3.37:g.33174068C>A	ENSP00000323696:p.Ala315Asp					CRTAP_ENST00000449224.1_Missense_Mutation_p.A272D|CRTAP_ENST00000485310.1_3'UTR	p.A315D	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN			5	1043	+			315					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.944C>A	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975921	0.74360	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.63580	-0.05;-0.05	5.32	5.32	0.75619	.	0.056243	0.64402	D	0.000001	T	0.77883	0.4197	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.67548	0.952;0.952	T	0.79671	-0.1706	10	0.66056	D	0.02	-5.8483	19.0154	0.92892	0.0:1.0:0.0:0.0	.	272;315	C9JP16;O75718	.;CRTAP_HUMAN	D	315;302;272	ENSP00000323696:A315D;ENSP00000409997:A272D	ENSP00000323696:A315D	A	+	2	0	CRTAP	33149072	0.999000	0.42202	0.846000	0.33378	0.629000	0.37895	3.659000	0.54489	2.498000	0.84270	0.561000	0.74099	GCC		0.473	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			57	31	1	0	7.47603e-22	0.003610	1.25109e-21	57	31				
ONECUT2	9480	broad.mit.edu	37	18	55103824	55103824	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:55103824G>C	ENST00000491143.2	+	1	908	c.876G>C	c.(874-876)ctG>ctC	p.L292L	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	292					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)			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)		TGTCGCACCTGAACGGCCTGC	0.706																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(874-876)ctG>ctC		one cut homeobox 2							33.0	40.0	38.0					18																	55103824		2116	4218	6334	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103824G>C	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.876G>C	18.37:g.55103824G>C							p.L292L	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	908	+		Colorectal(73;0.234)	292						Silent	SNP	ENST00000491143.2	37	c.876G>C	CCDS42440.1																																																																																				0.706	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			7	41	0	0	0	0.001984	0	7	41				
FABP12	646486	broad.mit.edu	37	8	82441795	82441795	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82441795T>C	ENST00000360464.4	-	2	186	c.124A>G	c.(124-126)Acc>Gcc	p.T42A	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	42							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						GTACTGATGGTCACAGTGGGT	0.383																																						ENST00000360464.4																			0				large_intestine(1)|lung(3)	4						c.(124-126)Acc>Gcc		fatty acid binding protein 12							104.0	97.0	100.0					8																	82441795		1846	4093	5939	SO:0001583	missense	646486						lipid binding|transporter activity	g.chr8:82441795T>C		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.124A>G	8.37:g.82441795T>C	ENSP00000353650:p.Thr42Ala					RP11-257P3.3_ENST00000523380.1_RNA	p.T42A	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN			2	186	-			42					B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	c.124A>G	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033438	0.35893	.	.	ENSG00000197416	ENST00000360464	T	0.07688	3.17	4.71	4.71	0.59529	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.135000	0.49916	D	0.000121	T	0.13500	0.0327	L	0.53249	1.67	0.24466	N	0.994414	B	0.27351	0.176	B	0.36289	0.221	T	0.10776	-1.0615	10	0.59425	D	0.04	.	14.3401	0.66619	0.0:0.0:0.0:1.0	.	42	A6NFH5	FBP12_HUMAN	A	42	ENSP00000353650:T42A	ENSP00000353650:T42A	T	-	1	0	FABP12	82604350	0.366000	0.25014	0.998000	0.56505	0.893000	0.52053	2.124000	0.42006	1.971000	0.57363	0.533000	0.62120	ACC		0.383	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		17	87	0	0	0	0.007413	0	17	87				
ZNF791	163049	broad.mit.edu	37	19	12739064	12739064	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:12739064G>A	ENST00000343325.4	+	4	883	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E132K|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Missense_Mutation_p.E209K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	241					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)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCACACTGGAGAGAAACCCTA	0.413																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(721-723)Gag>Aag		zinc finger protein 791							59.0	54.0	55.0					19																	12739064		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739064G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.721G>A	19.37:g.12739064G>A	ENSP00000342974:p.Glu241Lys					ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E132K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E209K	p.E241K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	883	+			241					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.721G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044749	0.75732	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.24350	1.86;1.86;1.86	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30696	0.0773	M	0.70842	2.15	0.39138	D	0.961998	P	0.38250	0.624	B	0.41860	0.368	T	0.30621	-0.9972	9	0.62326	D	0.03	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	241	Q3KP31	ZN791_HUMAN	K	241;223;209;132	ENSP00000342974:E241K;ENSP00000441761:E209K;ENSP00000441038:E132K	ENSP00000342974:E241K	E	+	1	0	ZNF791	12600064	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.350000	0.90069	1.007000	0.39238	0.491000	0.48974	GAG		0.413	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		4	38	0	0	0	0.000248	0	4	38				
SUZ12	23512	broad.mit.edu	37	17	30302527	30302527	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:30302527T>C	ENST00000322652.5	+	7	847	c.618T>C	c.(616-618)gtT>gtC	p.V206V	SUZ12_ENST00000580398.1_Silent_p.V183V	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	206					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAAGGCAAGTTCCCACAGGTA	0.333			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(616-618)gtT>gtC		SUZ12 polycomb repressive complex 2 subunit							39.0	41.0	40.0					17																	30302527		2203	4300	6503	SO:0001819	synonymous_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30302527T>C	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.618T>C	17.37:g.30302527T>C						SUZ12_ENST00000580398.1_Silent_p.V183V	p.V206V	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			7	847	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	206					Q96BD9	Silent	SNP	ENST00000322652.5	37	c.618T>C	CCDS11270.1																																																																																				0.333	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		22	35	0	0	0	0.001882	0	22	35				
FMN2	56776	broad.mit.edu	37	1	240256799	240256799	+	Missense_Mutation	SNP	G	G	A	rs554698558	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:240256799G>A	ENST00000319653.9	+	1	1620	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	464					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGTAGCCGCCCCGGCCAA	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1390-1392)Gcc>Acc		formin 2							15.0	21.0	19.0					1																	240256799		2173	4226	6399	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256799G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1390G>A	1.37:g.240256799G>A	ENSP00000318884:p.Ala464Thr						p.A464T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1620	+	Ovarian(103;0.127)	all_cancers(173;0.013)	464					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1390G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649578	0.29336	.	.	ENSG00000155816	ENST00000319653	T	0.81163	-1.46	4.61	1.48	0.22813	.	0.385076	0.22016	N	0.065798	T	0.63046	0.2478	L	0.27053	0.805	0.18873	N	0.999984	B	0.21688	0.059	B	0.15052	0.012	T	0.43956	-0.9359	10	0.18710	T	0.47	.	6.9093	0.24327	0.1617:0.1415:0.6968:0.0	.	464	Q9NZ56	FMN2_HUMAN	T	464	ENSP00000318884:A464T	ENSP00000318884:A464T	A	+	1	0	FMN2	238323422	0.058000	0.20735	0.002000	0.10522	0.769000	0.43574	2.411000	0.44600	0.496000	0.27904	0.563000	0.77884	GCC		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	29	0	0	0	0.001984	0	7	29				
TRERF1	55809	broad.mit.edu	37	6	42236845	42236845	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:42236845T>C	ENST00000372922.4	-	5	1046	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	TRERF1_ENST00000541110.1_Missense_Mutation_p.M162V|TRERF1_ENST00000372917.4_Missense_Mutation_p.M162V|TRERF1_ENST00000340840.2_Missense_Mutation_p.M162V|TRERF1_ENST00000354325.2_Missense_Mutation_p.M162V	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	162					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)			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)			ACCTGGGCCATATTGTTGACC	0.572																																						ENST00000541110.1																			0				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						c.(484-486)Atg>Gtg		transcriptional regulating factor 1							138.0	142.0	141.0					6																	42236845		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.chr6:42236845T>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.484A>G	6.37:g.42236845T>C	ENSP00000362013:p.Met162Val					TRERF1_ENST00000372917.4_Missense_Mutation_p.M162V|TRERF1_ENST00000372922.4_Missense_Mutation_p.M162V|TRERF1_ENST00000354325.2_Missense_Mutation_p.M162V|TRERF1_ENST00000340840.2_Missense_Mutation_p.M162V	p.M162V			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1052	-	Colorectal(47;0.196)		162					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.484A>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334716	0.24253	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13196	2.81;2.61;2.8;2.61;2.62	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	T	0.06781	0.0173	L	0.32530	0.975	0.41265	D	0.986807	B;B;B;B;B	0.29805	0.257;0.062;0.062;0.02;0.02	B;B;B;B;B	0.38683	0.279;0.109;0.109;0.006;0.006	T	0.22626	-1.0211	10	0.36615	T	0.2	-21.2749	10.6055	0.45392	0.0:0.0753:0.0:0.9247	.	162;162;162;1;1	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	V	162	ENSP00000439689:M162V;ENSP00000362008:M162V;ENSP00000362013:M162V;ENSP00000339438:M162V;ENSP00000346285:M162V	ENSP00000339438:M162V	M	-	1	0	TRERF1	42344823	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.921000	0.56454	2.051000	0.60960	0.379000	0.24179	ATG		0.572	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		4	176	0	0	0	0.000248	0	4	176				
ZNF827	152485	broad.mit.edu	37	4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:146813423C>T	ENST00000508784.1	-	3	1465	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H|ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1237-1239)cGc>cAc		zinc finger protein 827							151.0	124.0	133.0					4																	146813423		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146813423C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1238G>A	4.37:g.146813423C>T	ENSP00000421863:p.Arg413His					ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H|ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H	p.R413H			Q17R98	ZN827_HUMAN			3	1465	-	all_hematologic(180;0.151)		413					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1238G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.543369	0.96474	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.29397	1.57;1.57;1.57	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	L	0.48174	1.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.985	T	0.35325	-0.9793	10	0.46703	T	0.11	-23.6941	20.6439	0.99570	0.0:1.0:0.0:0.0	.	63;413;413	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	H	413;63;413;412;63	ENSP00000421863:R413H;ENSP00000423130:R63H;ENSP00000368761:R413H	ENSP00000281318:R412H	R	-	2	0	ZNF827	147032873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	CGC		0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		25	30	0	0	0	0.003330	0	25	30				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	48	0	0	0	0.002299	0	21	48				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	84	0	0	0	0.004672	0	3	84				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	60	0	0	0	0.001168	0	6	60				
OR10G4	390264	broad.mit.edu	37	11	123886869	123886869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:123886869G>T	ENST00000320891.4	+	1	588	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAACGTGATGGTCATCTTTG	0.547																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(586-588)atG>atT		olfactory receptor, family 10, subfamily G, member 4							268.0	214.0	232.0					11																	123886869		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886869G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.588G>T	11.37:g.123886869G>T	ENSP00000325076:p.Met196Ile						p.M196I	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	588	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	196					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.588G>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	0.462	-0.888452	0.02511	.	.	ENSG00000254737	ENST00000320891	T	0.00029	8.91	3.33	0.19	0.15125	GPCR, rhodopsin-like superfamily (1);	0.527164	0.17128	N	0.185937	T	0.00039	0.0001	N	0.02674	-0.535	0.25118	N	0.990667	B	0.02656	0.0	B	0.15052	0.012	T	0.02053	-1.1222	10	0.33141	T	0.24	.	6.8323	0.23917	0.0916:0.0:0.4103:0.4981	.	196	Q8NGN3	O10G4_HUMAN	I	196	ENSP00000325076:M196I	ENSP00000325076:M196I	M	+	3	0	OR10G4	123392079	0.002000	0.14202	0.939000	0.37840	0.010000	0.07245	-0.051000	0.11885	-0.052000	0.13311	-1.405000	0.01134	ATG		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		30	109	1	0	5.91797e-21	0.002445	9.83662e-21	30	109				
GPR126	57211	broad.mit.edu	37	6	142688950	142688950	+	Silent	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:142688950A>G	ENST00000230173.6	+	3	824	c.348A>G	c.(346-348)aaA>aaG	p.K116K	GPR126_ENST00000367608.2_Silent_p.K116K|GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000296932.8_Silent_p.K116K|GPR126_ENST00000367609.3_Silent_p.K116K	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	116	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAACTGCCAAAGGCCTATCAT	0.403																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(346-348)aaA>aaG		G protein-coupled receptor 126							78.0	76.0	76.0					6																	142688950		1876	4101	5977	SO:0001819	synonymous_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142688950A>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.348A>G	6.37:g.142688950A>G						GPR126_ENST00000367609.3_Silent_p.K116K|GPR126_ENST00000367608.2_Silent_p.K116K|GPR126_ENST00000296932.8_Silent_p.K116K|GPR126_ENST00000545477.1_3'UTR	p.K116K	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	3	824	+	Breast(32;0.176)		116			CUB.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.348A>G	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			3	62	0	0	0	0.004672	0	3	62				
KCNJ15	3772	broad.mit.edu	37	21	39671654	39671654	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr21:39671654G>A	ENST00000328656.4	+	4	774	c.471G>A	c.(469-471)gaG>gaA	p.E157E	KCNJ15_ENST00000398930.1_Silent_p.E157E|KCNJ15_ENST00000398934.1_Silent_p.E157E|KCNJ15_ENST00000398932.1_Silent_p.E157E|KCNJ15_ENST00000398938.2_Silent_p.E157E	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	157		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCTTGATTGAGATCTTCATCA	0.512																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(469-471)gaG>gaA		potassium inwardly-rectifying channel, subfamily J, member 15							83.0	79.0	80.0					21																	39671654		2203	4300	6503	SO:0001819	synonymous_variant	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671654G>A	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.471G>A	21.37:g.39671654G>A						KCNJ15_ENST00000398938.2_Silent_p.E157E|KCNJ15_ENST00000328656.3_Silent_p.E157E|KCNJ15_ENST00000398934.1_Silent_p.E157E|KCNJ15_ENST00000398932.1_Silent_p.E157E	p.E157E			Q99712	IRK15_HUMAN			4	825	+			157				Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).	D3DSH5|O00564|Q96L28|Q99446	Silent	SNP	ENST00000328656.4	37	c.471G>A	CCDS13656.1																																																																																				0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		9	47	0	0	0	0.004482	0	9	47				
NOS2	4843	broad.mit.edu	37	17	26089930	26089930	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:26089930G>A	ENST00000313735.6	-	22	2927	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	898	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGGGGAGCTGGGAAAGCAGGA	0.592																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2692-2694)tcC>tcT		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						30.0	27.0	28.0					17																	26089930		2201	4299	6500	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26089930G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2694C>T	17.37:g.26089930G>A							p.S898S	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			22	2927	-			898			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.2694C>T	CCDS11223.1																																																																																				0.592	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	5	0	0	0	0.000602	0	5	5				
BAZ2B	29994	broad.mit.edu	37	2	160240133	160240133	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:160240133C>G	ENST00000392783.2	-	24	4240	c.3745G>C	c.(3745-3747)Gaa>Caa	p.E1249Q	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1213Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1215Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1149Q|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGTTTACCTTCTACCACCCAT	0.303																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3745-3747)Gaa>Caa		bromodomain adjacent to zinc finger domain, 2B							139.0	127.0	130.0					2																	160240133		1824	4072	5896	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160240133C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3745G>C	2.37:g.160240133C>G	ENSP00000376534:p.Glu1249Gln					BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1215Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1213Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1149Q	p.E1249Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			24	4240	-			1249					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3745G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	32	5.107470	0.94292	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.64438	-0.09;-0.05;-0.09;-0.1	5.77	5.77	0.91146	.	0.000000	0.38058	U	0.001839	T	0.80160	0.4572	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80214	-0.1475	10	0.72032	D	0.01	-22.5745	20.3559	0.98840	0.0:1.0:0.0:0.0	.	1213;1249	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Q	1213;1249;1215;1149	ENSP00000376533:E1213Q;ENSP00000376534:E1249Q;ENSP00000348087:E1215Q;ENSP00000339670:E1149Q	ENSP00000339670:E1149Q	E	-	1	0	BAZ2B	159948379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.713000	0.84693	2.890000	0.99128	0.585000	0.79938	GAA		0.303	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			6	26	0	0	0	0.001168	0	6	26				
WDR19	57728	broad.mit.edu	37	4	39233472	39233472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:39233472G>T	ENST00000399820.3	+	18	2192	c.2038G>T	c.(2038-2040)Gag>Tag	p.E680*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.E520*|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	680					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGCCTGGAATGAGTTGGCCAG	0.433																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(2038-2040)Gag>Tag		WD repeat domain 19							145.0	141.0	142.0					4																	39233472		1969	4148	6117	SO:0001587	stop_gained	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39233472G>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2038G>T	4.37:g.39233472G>T	ENSP00000382717:p.Glu680*					WDR19_ENST00000288634.7_Nonsense_Mutation_p.E520*|WDR19_ENST00000515631.1_3'UTR	p.E680*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			18	2192	+			680					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	ENST00000399820.3	37	c.2038G>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540722	0.65085	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	.	.	.	5.46	5.46	0.80206	.	0.142496	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-14.6673	19.3055	0.94161	0.0:0.0:1.0:0.0	.	.	.	.	X	680;520	.	ENSP00000288634:E520X	E	+	1	0	WDR19	38909867	1.000000	0.71417	0.725000	0.30721	0.352000	0.29268	9.332000	0.96446	2.559000	0.86315	0.591000	0.81541	GAG		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			30	35	1	0	2.61193e-14	0.001786	4.19958e-14	30	35				
SNHG14	104472715	broad.mit.edu	37	15	25449388	25449388	+	RNA	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:25449388G>A	ENST00000424208.1	+	0	2280				SNORD115-17_ENST00000364612.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGGCATCCAGCCCCTGGTGT	0.622																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25449388G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449388G>A						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2280	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.622	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			6	51	0	0	0	0.001168	0	6	51				
TBC1D2B	23102	broad.mit.edu	37	15	78316600	78316600	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78316600C>A	ENST00000300584.3	-	6	1367	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.K456N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	456							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCGCTGAGCTTGATGATGA	0.617																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1366-1368)aaG>aaT		TBC1 domain family, member 2B							93.0	71.0	79.0					15																	78316600		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78316600C>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1368G>T	15.37:g.78316600C>A	ENSP00000300584:p.Lys456Asn					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.K456N	p.K456N			Q9UPU7	TBD2B_HUMAN			6	1439	-			456					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1368G>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182004|4.182004	0.78677|0.78677	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.11385|.	2.78;2.78|.	5.35|5.35	4.33|4.33	0.51752|0.51752	.|.	0.046608|.	0.85682|.	D|.	0.000000|.	T|T	0.64080|0.64080	0.2566|0.2566	M|M	0.77103|0.77103	2.36|2.36	0.53688|0.53688	D|D	0.999973|0.999973	D;D|.	0.67145|.	0.996;0.993|.	P;P|.	0.59948|.	0.866;0.738|.	T|T	0.66548|0.66548	-0.5896|-0.5896	10|5	0.87932|.	D|.	0|.	.|.	3.8841|3.8841	0.09091|0.09091	0.0:0.6834:0.0:0.3166|0.0:0.6834:0.0:0.3166	.|.	456;456|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	N|I	456|338	ENSP00000387165:K456N;ENSP00000300584:K456N|.	ENSP00000300584:K456N|.	K|S	-|-	3|2	2|0	TBC1D2B|TBC1D2B	76103655|76103655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	1.982000|1.982000	0.40638|0.40638	2.513000|2.513000	0.84729|0.84729	0.491000|0.491000	0.48974|0.48974	AAG|AGC		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		19	45	1	0	5.3912e-06	0.006122	8.08681e-06	19	45				
MAPK8IP1	9479	broad.mit.edu	37	11	45926374	45926374	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:45926374C>A	ENST00000241014.2	+	9	2052	c.1882C>A	c.(1882-1884)Cag>Aag	p.Q628K	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Q618K	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	628	Interaction with VRK2.|PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CGATGACTCCCAGGAGGCCAA	0.612																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1852-1854)Cag>Aag		mitogen-activated protein kinase 8 interacting protein 1							98.0	109.0	105.0					11																	45926374		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45926374C>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1882C>A	11.37:g.45926374C>A	ENSP00000241014:p.Gln628Lys					MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.Q628K	p.Q618K			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	9	2182	+			628			PID.		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1852C>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	7.414	0.635346	0.14322	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.35048	1.33;1.33	5.31	5.31	0.75309	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.634090	0.16941	N	0.193268	T	0.24699	0.0599	L	0.29908	0.895	0.33709	D	0.615594	B	0.02656	0.0	B	0.10450	0.005	T	0.11131	-1.0600	10	0.05525	T	0.97	-14.8606	13.8477	0.63477	0.189:0.811:0.0:0.0	.	628	Q9UQF2	JIP1_HUMAN	K	628;618	ENSP00000241014:Q628K;ENSP00000378991:Q618K	ENSP00000241014:Q628K	Q	+	1	0	MAPK8IP1	45882950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.927000	0.48900	2.768000	0.95171	0.561000	0.74099	CAG		0.612	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		13	213	1	0	2.27111e-07	0.001368	3.47014e-07	13	213				
ANKRD44	91526	broad.mit.edu	37	2	197990752	197990752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990752G>A	ENST00000328737.2	-	5	272	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000409153.1_Nonsense_Mutation_p.Q91*|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.Q83*|ANKRD44_ENST00000409919.1_Nonsense_Mutation_p.Q91*|ANKRD44_ENST00000539527.1_Nonsense_Mutation_p.Q19*|ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.Q66*			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	91										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAAAACCTGTACTGCTTCC	0.463																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(196-198)Cag>Tag		ankyrin repeat domain 44							121.0	114.0	117.0					2																	197990752		2203	4300	6503	SO:0001587	stop_gained	91526						protein binding	g.chr2:197990752G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.196C>T	2.37:g.197990752G>A	ENSP00000331516:p.Gln66*					ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000539527.1_Nonsense_Mutation_p.Q19*|ANKRD44_ENST00000409153.1_Nonsense_Mutation_p.Q91*|ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.Q83*|ANKRD44_ENST00000409919.1_Nonsense_Mutation_p.Q91*	p.Q66*			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	272	-			91					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Nonsense_Mutation	SNP	ENST00000328737.2	37	c.196C>T		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708338	0.68615	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919;ENST00000443014	.	.	.	5.46	5.46	0.80206	.	0.064498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	.	.	.	X	83;66;66;66;91;19;91;66	.	ENSP00000282272:Q83X	Q	-	1	0	ANKRD44	197698997	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	6.457000	0.73505	2.840000	0.97914	0.655000	0.94253	CAG		0.463	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		27	94	0	0	0	0.005443	0	27	94				
STC1	6781	broad.mit.edu	37	8	23702400	23702400	+	Silent	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:23702400A>C	ENST00000290271.2	-	4	910	c.627T>G	c.(625-627)gcT>gcG	p.A209A	STC1_ENST00000524323.1_Silent_p.A140A	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	209					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTTGAAGTCAGCTCGTGGGT	0.552																																						ENST00000290271.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(625-627)gcT>gcG		stanniocalcin 1							184.0	157.0	166.0					8																	23702400		2203	4300	6503	SO:0001819	synonymous_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702400A>C		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.627T>G	8.37:g.23702400A>C						STC1_ENST00000524323.1_Silent_p.A140A	p.A209A	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	910	-		Prostate(55;0.055)|Breast(100;0.116)	209					B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	c.627T>G	CCDS6043.1																																																																																				0.552	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			19	91	0	0	0	0.007413	0	19	91				
ALAS2	212	broad.mit.edu	37	X	55054214	55054214	+	Intron	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chrX:55054214T>A	ENST00000330807.5	-	2	123				ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000396198.3_Silent_p.G9G	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2						cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCTTGTTCCATCCCAGAGCAA	0.537																																						ENST00000396198.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(25-27)ggA>ggT		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						151.0	136.0	141.0					X																	55054214		1930	4114	6044	SO:0001627	intron_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55054214T>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.15-1766A>T	X.37:g.55054214T>A						ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron	p.G9G	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN			2	112	-			0					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.27A>T	CCDS14366.1																																																																																				0.537	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		12	18	0	0	0	0.001368	0	12	18				
RNF213	57674	broad.mit.edu	37	17	78337076	78337076	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78337076G>A	ENST00000582970.1	+	40	11673	c.11530G>A	c.(11530-11532)Gaa>Aaa	p.E3844K	RNF213_ENST00000508628.2_Missense_Mutation_p.E3893K|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E1917K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3844					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCCTGATGGAAGCCCGTTG	0.567																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11530-11532)Gaa>Aaa		ring finger protein 213							98.0	88.0	92.0					17																	78337076		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78337076G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11530G>A	17.37:g.78337076G>A	ENSP00000464087:p.Glu3844Lys					RNF213_ENST00000508628.2_Missense_Mutation_p.E3893K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1917K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.E3844K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		40	11673	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11530G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942156	0.18281	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22336	1.96	5.59	-5.09	0.02920	.	1.765620	0.02221	N	0.064014	T	0.09202	0.0227	N	0.11201	0.11	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.14578	0.011;0.002	T	0.30149	-0.9988	10	0.07482	T	0.82	.	7.2573	0.26183	0.3966:0.2948:0.3085:0.0	.	3893;1917	C9JCP4;Q63HN8	.;RN213_HUMAN	K	3844;3893;1917	ENSP00000338218:E1917K	ENSP00000338218:E1917K	E	+	1	0	RNF213	75951671	0.315000	0.24571	0.000000	0.03702	0.002000	0.02628	0.115000	0.15540	-0.485000	0.06754	-0.165000	0.13383	GAA		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	87	0	0	0	0.006122	0	18	87				
AKAP2	11217	broad.mit.edu	37	9	112899838	112899838	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:112899838C>A	ENST00000259318.7	+	2	1528	c.1321C>A	c.(1321-1323)Cgg>Agg	p.R441R	AKAP2_ENST00000434623.2_Silent_p.R530R|AKAP2_ENST00000555236.1_Silent_p.R672R|AKAP2_ENST00000510514.5_Silent_p.R672R|PALM2-AKAP2_ENST00000374530.3_Silent_p.R672R|AKAP2_ENST00000374525.1_Silent_p.R530R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R672R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	441										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TACGAGCGCCCGGGCTGTCCT	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2014-2016)Cgg>Agg									93.0	95.0	94.0					9																	112899838		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112899838C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1321C>A	9.37:g.112899838C>A						AKAP2_ENST00000434623.2_Silent_p.R530R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R672R|AKAP2_ENST00000374525.1_Silent_p.R530R|AKAP2_ENST00000259318.7_Silent_p.R441R|AKAP2_ENST00000510514.5_Silent_p.R672R|AKAP2_ENST00000555236.1_Silent_p.R672R	p.R672R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2194	+			441					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2014C>A	CCDS48003.1																																																																																				0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		43	79	1	0	6.4771e-29	0.002522	1.09135e-28	43	79				
NEU1	4758	broad.mit.edu	37	6	31828383	31828383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:31828383G>A	ENST00000375631.4	-	4	760	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	211					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CGGCCCTTCCGTGGCTCCCGC	0.607																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(631-633)Cgg>Tgg		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)						68.0	69.0	69.0					6																	31828383		2203	4300	6503	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828383G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.631C>T	6.37:g.31828383G>A	ENSP00000364782:p.Arg211Trp						p.R211W	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			4	760	-			211						Missense_Mutation	SNP	ENST00000375631.4	37	c.631C>T	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	G	3.432	-0.115837	0.06881	.	.	ENSG00000204386	ENST00000375631	D	0.84298	-1.83	5.93	0.986	0.19784	Neuraminidase (2);	0.883185	0.09981	N	0.731049	T	0.42108	0.1188	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.32955	-0.9887	10	0.35671	T	0.21	-37.7648	2.8794	0.05642	0.1164:0.1192:0.2844:0.48	.	211;211	E9PIF4;Q99519	.;NEUR1_HUMAN	W	211	ENSP00000364782:R211W	ENSP00000364782:R211W	R	-	1	2	NEU1	31936362	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-0.404000	0.07205	-0.137000	0.11455	-0.274000	0.10170	CGG		0.607	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			21	79	0	0	0	0.008871	0	21	79				
NCAPH	23397	broad.mit.edu	37	2	97024809	97024809	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:97024809G>T	ENST00000240423.4	+	10	1278	c.1235G>T	c.(1234-1236)gGa>gTa	p.G412V	NCAPH_ENST00000427946.1_Missense_Mutation_p.G276V|NCAPH_ENST00000455200.1_Missense_Mutation_p.G401V	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	412					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTTGGGGATGGAGACATCAGG	0.433																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1201-1203)gGa>gTa		non-SMC condensin I complex, subunit H							129.0	114.0	119.0					2																	97024809		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97024809G>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1235G>T	2.37:g.97024809G>T	ENSP00000240423:p.Gly412Val					NCAPH_ENST00000240423.4_Missense_Mutation_p.G412V|NCAPH_ENST00000427946.1_Missense_Mutation_p.G276V	p.G401V			Q15003	CND2_HUMAN			10	1497	+		Ovarian(717;0.0221)	412					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1202G>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042967	0.36085	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	6.06	6.06	0.98353	.	0.211223	0.48286	D	0.000181	T	0.58192	0.2105	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;P	0.53619	0.961;0.961;0.961;0.918	P;P;P;P	0.53401	0.566;0.566;0.725;0.48	T	0.49409	-0.8943	10	0.29301	T	0.29	-8.2183	18.1147	0.89549	0.0:0.0:1.0:0.0	.	388;401;401;412	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	V	412;276;401;401	ENSP00000240423:G412V;ENSP00000400774:G276V;ENSP00000405237:G401V;ENSP00000407308:G401V	ENSP00000240423:G412V	G	+	2	0	NCAPH	96388536	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	4.836000	0.62789	2.882000	0.98803	0.655000	0.94253	GGA		0.433	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		12	76	1	0	5.50884e-06	0.001368	8.21318e-06	12	76				
XIST	7503	broad.mit.edu	37	X	73064268	73064268	+	lincRNA	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chrX:73064268G>C	ENST00000429829.1	-	0	8320					NR_001564.2				X inactive specific transcript (non-protein coding)																		GCCAAGCAAAGAGGCCTCAGT	0.423																																						ENST00000429829.1																			0																				51.0	48.0	49.0					X																	73064268		876	1991	2867			7503							g.chrX:73064268G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064268G>C								NR_001564.2						0	8320	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.423	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		8	17	0	0	0	0.003080	0	8	17				
DGKB	1607	broad.mit.edu	37	7	14188824	14188824	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:14188824C>G	ENST00000403951.2	-	26	2766	c.2347G>C	c.(2347-2349)Ggc>Cgc	p.G783R	DGKB_ENST00000399322.3_Missense_Mutation_p.G783R|DGKB_ENST00000258767.5_Missense_Mutation_p.G783R|DGKB_ENST00000407950.1_Missense_Mutation_p.G775R|DGKB_ENST00000402815.1_Missense_Mutation_p.G782R|DGKB_ENST00000444700.2_Missense_Mutation_p.G764R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	783					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGAGGCGGGCCCATCAGCATT	0.393																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2347-2349)Ggc>Cgc		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						121.0	117.0	118.0					7																	14188824		1825	4077	5902	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14188824C>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2347G>C	7.37:g.14188824C>G	ENSP00000385780:p.Gly783Arg					DGKB_ENST00000399322.3_Missense_Mutation_p.G783R|DGKB_ENST00000407950.1_Missense_Mutation_p.G775R|DGKB_ENST00000444700.2_Missense_Mutation_p.G764R|DGKB_ENST00000402815.1_Missense_Mutation_p.G782R|DGKB_ENST00000258767.5_Missense_Mutation_p.G783R	p.G783R			Q9Y6T7	DGKB_HUMAN			26	2766	-			783					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2347G>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356380	0.61293	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700	T;T;T;T;T;T	0.78003	-1.12;-1.12;-1.12;-1.12;-1.12;-1.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.82029	0.4948	L	0.41492	1.28	0.50813	D	0.999895	P;D	0.76494	0.927;0.999	P;D	0.68765	0.584;0.96	T	0.74194	-0.3744	10	0.07175	T	0.84	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	764;783	C9JTC0;Q9Y6T7	.;DGKB_HUMAN	R	783;783;783;782;775;764	ENSP00000385780:G783R;ENSP00000382260:G783R;ENSP00000258767:G783R;ENSP00000384909:G782R;ENSP00000385031:G775R;ENSP00000388451:G764R	ENSP00000258767:G783R	G	-	1	0	DGKB	14155349	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.989000	0.70587	2.765000	0.95021	0.650000	0.86243	GGC		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		10	101	0	0	0	0.006214	0	10	101				
KAT6A	7994	broad.mit.edu	37	8	41791310	41791310	+	Silent	SNP	C	C	T	rs369778154		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:41791310C>T	ENST00000396930.3	-	18	4971	c.4428G>A	c.(4426-4428)gcG>gcA	p.A1476A	KAT6A_ENST00000265713.2_Silent_p.A1476A|KAT6A_ENST00000406337.1_Silent_p.A1476A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1476					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TATGTTCTGACGCATGACAGT	0.562																																						ENST00000396930.3																			0											c.(4426-4428)gcG>gcA		K(lysine) acetyltransferase 6A							142.0	112.0	122.0					8																	41791310		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791310C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4428G>A	8.37:g.41791310C>T						KAT6A_ENST00000406337.1_Silent_p.A1476A|KAT6A_ENST00000265713.2_Silent_p.A1476A	p.A1476A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4971	-			1476					Q76L81	Silent	SNP	ENST00000396930.3	37	c.4428G>A	CCDS6124.1																																																																																				0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		30	79	0	0	0	0.001786	0	30	79				
C3orf17	25871	broad.mit.edu	37	3	112724658	112724658	+	Missense_Mutation	SNP	G	G	A	rs143719239	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:112724658G>A	ENST00000314400.5	-	9	1620	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	C3orf17_ENST00000383675.2_Missense_Mutation_p.R407W|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Missense_Mutation_p.R341W	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	477					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACTCTTCCGAGTCCCTTGA	0.433													g|||	7	0.00139776	0.0053	0.0	5008	,	,		19132	0.0		0.0	False		,,,				2504	0.0					ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(1429-1431)Cgg>Tgg		chromosome 3 open reading frame 17		A	TRP/ARG	11,4395	19.1+/-41.9	0,11,2192	84.0	77.0	80.0		1429	3.1	0.0	3	dbSNP_134	80	0,8598		0,0,4299	yes	missense	C3orf17	NM_015412.3	101	0,11,6491	AA,AG,GG		0.0,0.2497,0.0846	benign	477/568	112724658	11,12993	2203	4299	6502	SO:0001583	missense	25871					integral to membrane		g.chr3:112724658G>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1429C>T	3.37:g.112724658G>A	ENSP00000320251:p.Arg477Trp					C3orf17_ENST00000393857.2_Missense_Mutation_p.R341W|C3orf17_ENST00000383675.2_Missense_Mutation_p.R407W	p.R477W	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			9	1620	-			477					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1429C>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844284	0.32606	0.002497	0.0	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.32515	1.45;1.45;1.45	5.9	3.08	0.35506	.	2.728910	0.01349	N	0.011857	T	0.21631	0.0521	N	0.22421	0.69	0.09310	N	1	B;B;B;D	0.57257	0.003;0.003;0.0;0.979	B;B;B;B	0.39152	0.001;0.001;0.0;0.292	T	0.17228	-1.0376	10	0.56958	D	0.05	3.8591	4.5649	0.12180	0.0908:0.1635:0.6227:0.1229	.	366;274;407;477	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	W	477;407;124;341	ENSP00000320251:R477W;ENSP00000373173:R407W;ENSP00000377438:R341W	ENSP00000320251:R477W	R	-	1	2	C3orf17	114207348	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.073000	0.14640	0.423000	0.26033	-0.713000	0.03633	CGG		0.433	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		8	62	0	0	0	0.004482	0	8	62				
THAP4	51078	broad.mit.edu	37	2	242542453	242542453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:242542453C>G	ENST00000407315.1	-	4	1873	c.1442G>C	c.(1441-1443)aGa>aCa	p.R481T	THAP4_ENST00000402545.1_Missense_Mutation_p.R69T|THAP4_ENST00000497486.1_5'Flank|THAP4_ENST00000402136.1_Missense_Mutation_p.R69T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	481							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		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;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCCACACTCTCTGTGCATCGG	0.632																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1441-1443)aGa>aCa		THAP domain containing 4							139.0	111.0	120.0					2																	242542453		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242542453C>G	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1442G>C	2.37:g.242542453C>G	ENSP00000385006:p.Arg481Thr					THAP4_ENST00000402545.1_Missense_Mutation_p.R69T|THAP4_ENST00000402136.1_Missense_Mutation_p.R69T	p.R481T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	4	1873	-		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)	481					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.1442G>C	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.819537	0.90873	.	.	ENSG00000176946	ENST00000402136;ENST00000407315;ENST00000402545;ENST00000512346	D	0.96073	-3.9	5.51	5.51	0.81932	Domain of unknown function DUF1794 (1);Calycin-like (1);	0.260151	0.23474	N	0.047790	D	0.96849	0.8971	L	0.48362	1.52	0.80722	D	1	D;P	0.89917	1.0;0.841	D;B	0.80764	0.994;0.239	D	0.97038	0.9755	10	0.56958	D	0.05	-27.6463	19.4119	0.94677	0.0:1.0:0.0:0.0	.	481;69	Q8WY91;Q8WY91-2	THAP4_HUMAN;.	T	69;481;69;156	ENSP00000385006:R481T	ENSP00000385931:R69T	R	-	2	0	THAP4	242191126	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.786000	0.75094	2.592000	0.87571	0.591000	0.81541	AGA		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		20	47	0	0	0	0.001882	0	20	47				
EPS15	2060	broad.mit.edu	37	1	51873905	51873905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:51873905G>C	ENST00000371733.3	-	15	1471	c.1375C>G	c.(1375-1377)Caa>Gaa	p.Q459E	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Missense_Mutation_p.Q136E|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	459					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCTGTTTCTTGCTGTAGACGG	0.448			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1375-1377)Caa>Gaa		epidermal growth factor receptor pathway substrate 15							218.0	205.0	209.0					1																	51873905		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51873905G>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1375C>G	1.37:g.51873905G>C	ENSP00000360798:p.Gln459Glu					EPS15_ENST00000396122.4_Missense_Mutation_p.Q136E|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron	p.Q459E	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			15	1471	-			459					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1375C>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589725	0.46214	.	.	ENSG00000085832	ENST00000371733;ENST00000396122	T;T	0.41065	2.35;1.01	5.75	5.75	0.90469	Ubiquitin interacting motif (1);	0.000000	0.31381	N	0.007750	T	0.35913	0.0948	L	0.36672	1.1	0.42852	D	0.994088	B;B	0.12013	0.005;0.0	B;B	0.17098	0.017;0.001	T	0.07849	-1.0751	10	0.34782	T	0.22	.	15.4204	0.75006	0.0:0.1385:0.8615:0.0	.	459;145	P42566;P42566-2	EPS15_HUMAN;.	E	459;136	ENSP00000360798:Q459E;ENSP00000379428:Q136E	ENSP00000360798:Q459E	Q	-	1	0	EPS15	51646493	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.269000	0.51592	2.711000	0.92665	0.563000	0.77884	CAA		0.448	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		24	81	0	0	0	0.002299	0	24	81				
CSHL1	1444	broad.mit.edu	37	17	61988275	61988275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:61988275G>T	ENST00000309894.5	-	2	19	c.20C>A	c.(19-21)aCg>aAg	p.T7K	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.T7K|CSHL1_ENST00000259003.10_Missense_Mutation_p.T7K	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	7						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GAGCAGGGACGTCCGGGAGCC	0.582																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(19-21)aCg>aAg		chorionic somatomammotropin hormone-like 1							26.0	30.0	29.0					17																	61988275		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988275G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.20C>A	17.37:g.61988275G>T	ENSP00000309524:p.Thr7Lys					CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Missense_Mutation_p.T7K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.T7K	p.T7K			Q14406	CSHL_HUMAN			2	81	-			7					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.20C>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	11.66	1.704414	0.30232	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D;D	0.88586	-2.33;-2.02;-2.4	2.28	1.26	0.21427	.	0.707951	0.13288	N	0.399239	D	0.91855	0.7422	M	0.74881	2.28	0.09310	N	1	D;P;D	0.63880	0.993;0.696;0.981	P;P;D	0.64877	0.823;0.574;0.93	T	0.82099	-0.0625	10	0.72032	D	0.01	.	6.0486	0.19773	0.0:0.0:0.6945:0.3055	.	7;7;7	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	K	7	ENSP00000309524:T7K;ENSP00000259003:T7K;ENSP00000376569:T7K	ENSP00000259003:T7K	T	-	2	0	GH1	59342007	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.229000	0.17833	0.488000	0.27723	0.305000	0.20034	ACG		0.582	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		12	38	1	0	9.05144e-12	0.001855	1.43655e-11	12	38				
NLRC3	197358	broad.mit.edu	37	16	3614104	3614104	+	RNA	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:3614104G>A	ENST00000301749.7	-	0	1239				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCACCAGGCCCCCTGGGA	0.592																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							50.0	54.0	53.0					16																	3614104		1974	4155	6129			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614104G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614104G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1239	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		18	34	0	0	0	0.007413	0	18	34				
PROS1	5627	broad.mit.edu	37	3	93603601	93603601	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:93603601G>C	ENST00000394236.3	-	12	1779	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	PROS1_ENST00000407433.1_Missense_Mutation_p.S357C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	488	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCAATTCCAGAACCAGGATA	0.313																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1462-1464)tCt>tGt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						115.0	110.0	111.0					3																	93603601		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603601G>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1463C>G	3.37:g.93603601G>C	ENSP00000377783:p.Ser488Cys					PROS1_ENST00000407433.1_Missense_Mutation_p.S357C	p.S488C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			12	1779	-			488			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1463C>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690158	0.48097	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.80909	-1.43;-1.43	3.78	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.699980	0.14011	N	0.347447	T	0.81522	0.4840	M	0.78637	2.42	0.26110	N	0.980694	P	0.50369	0.934	B	0.43916	0.436	T	0.75819	-0.3183	10	0.62326	D	0.03	.	11.487	0.50358	0.0:0.1822:0.8178:0.0	.	488	P07225	PROS_HUMAN	C	488;357	ENSP00000377783:S488C;ENSP00000385794:S357C	ENSP00000377783:S488C	S	-	2	0	PROS1	95086291	0.996000	0.38824	0.998000	0.56505	0.944000	0.59088	2.540000	0.45727	1.950000	0.56595	0.561000	0.74099	TCT		0.313	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		7	40	0	0	0	0.003080	0	7	40				
SERPINI1	5274	broad.mit.edu	37	3	167512409	167512409	+	Splice_Site	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:167512409G>T	ENST00000295777.5	+	5	1109	c.678G>T	c.(676-678)ggG>ggT	p.G226G	SERPINI1_ENST00000446050.2_Splice_Site_p.G226G	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	226					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTTTTTAGGGGAATTTAGTG	0.403																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.e5-1		serpin peptidase inhibitor, clade I (neuroserpin), member 1							59.0	60.0	60.0					3																	167512409		2203	4299	6502	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167512409G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.677-1G>T	3.37:g.167512409G>T						SERPINI1_ENST00000446050.2_Splice_Site_p.G226_splice	p.G226_splice	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			5	1109	+			226					A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37	c.676_splice	CCDS3203.1																																																																																				0.403	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Silent	17	30	1	0	2.35188e-11	0.006122	3.68511e-11	17	30				
GRIN3A	116443	broad.mit.edu	37	9	104335610	104335610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104335610G>T	ENST00000361820.3	-	9	3794	c.3194C>A	c.(3193-3195)gCa>gAa	p.A1065E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1065					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TAGGGAGTCTGCTTTCCCATT	0.567																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(3193-3195)gCa>gAa		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						124.0	114.0	118.0					9																	104335610		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335610G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3194C>A	9.37:g.104335610G>T	ENSP00000355155:p.Ala1065Glu						p.A1065E	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			9	3794	-		Acute lymphoblastic leukemia(62;0.0568)	1065					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3194C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659263	0.88154	.	.	ENSG00000198785	ENST00000361820	T	0.10860	2.83	5.45	5.45	0.79879	.	0.374675	0.28052	N	0.016798	T	0.14056	0.0340	L	0.51422	1.61	0.48452	D	0.999654	B	0.33413	0.411	B	0.29353	0.101	T	0.02167	-1.1202	10	0.59425	D	0.04	.	19.6543	0.95830	0.0:0.0:1.0:0.0	.	1065	Q8TCU5	NMD3A_HUMAN	E	1065	ENSP00000355155:A1065E	ENSP00000355155:A1065E	A	-	2	0	GRIN3A	103375431	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.506000	0.81665	2.723000	0.93209	0.650000	0.86243	GCA		0.567	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			40	69	1	0	5.71845e-15	0.005524	9.31615e-15	40	69				
ANKRD44	91526	broad.mit.edu	37	2	197990126	197990126	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990126G>T	ENST00000328737.2	-	6	530	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	ANKRD44_ENST00000450567.1_Missense_Mutation_p.L152M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.L177M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L169M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.L177M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.L105M|ANKRD44_ENST00000337207.5_Missense_Mutation_p.L152M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	177										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCCAGTGCAGAGCACGCCGG	0.428																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(454-456)Ctg>Atg		ankyrin repeat domain 44							122.0	114.0	116.0					2																	197990126		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990126G>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.454C>A	2.37:g.197990126G>T	ENSP00000331516:p.Leu152Met					ANKRD44_ENST00000337207.5_Missense_Mutation_p.L152M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.L105M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.L177M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L152M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L169M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.L177M	p.L152M			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	530	-			177					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.454C>A		.	.	.	.	.	.	.	.	.	.	G	17.81	3.479990	0.63849	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	D;T;T;T;D;T;T	0.91295	-2.82;-1.23;-1.23;1.34;-2.82;0.94;-1.23	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000004	D	0.93877	0.8041	M	0.75615	2.305	0.41823	D	0.990035	D;D	0.89917	0.994;1.0	D;D	0.85130	0.973;0.997	D	0.93655	0.6976	10	0.72032	D	0.01	.	8.0883	0.30786	0.0794:0.0:0.7618:0.1589	.	105;177	F5H682;Q8N8A2-3	.;.	M	169;152;152;152;177;105;177	ENSP00000282272:L169M;ENSP00000331516:L152M;ENSP00000402420:L152M;ENSP00000338794:L152M;ENSP00000387141:L177M;ENSP00000437825:L105M;ENSP00000387233:L177M	ENSP00000282272:L169M	L	-	1	2	ANKRD44	197698371	0.993000	0.37304	1.000000	0.80357	0.974000	0.67602	1.459000	0.35234	2.612000	0.88384	0.655000	0.94253	CTG		0.428	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		31	91	1	0	7.11191e-15	0.002836	1.15101e-14	31	91				
ANKRD17	26057	broad.mit.edu	37	4	73956816	73956816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:73956816C>G	ENST00000358602.4	-	29	6645	c.6529G>C	c.(6529-6531)Gct>Cct	p.A2177P	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1926P|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2064P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2177					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTCTAATAGCAGGGGTTTCC	0.507																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(6529-6531)Gct>Cct		ankyrin repeat domain 17							119.0	130.0	126.0					4																	73956816		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73956816C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6529G>C	4.37:g.73956816C>G	ENSP00000351416:p.Ala2177Pro					ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1926P|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2064P	p.A2177P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6645	-	Breast(15;0.000295)		2177					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.6529G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331087	0.24167	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.67523	-0.27;-0.24;-0.24	5.6	4.75	0.60458	.	0.092272	0.46758	D	0.000265	T	0.51822	0.1697	N	0.24115	0.695	0.30761	N	0.7441	B;B;B;B	0.09022	0.002;0.002;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.56390	-0.7987	10	0.72032	D	0.01	.	10.7532	0.46221	0.148:0.7095:0.1425:0.0	.	2176;1926;2177;2064	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	P	2177;1584;1926;2064;561	ENSP00000351416:A2177P;ENSP00000332265:A1926P;ENSP00000427151:A2064P	ENSP00000332265:A1926P	A	-	1	0	ANKRD17	74175680	0.985000	0.35326	1.000000	0.80357	0.907000	0.53573	0.356000	0.20181	1.365000	0.46057	-0.172000	0.13284	GCT		0.507	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		35	132	0	0	0	0.002836	0	35	132				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R283P	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	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(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	GRCh37	CM021154	TP53	M		c.(847-849)cGc>cCc	Other conserved DNA damage response genes	tumor protein p53							86.0	73.0	78.0					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>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.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	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_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P	p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (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.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	40	0	0	0	0.001855	0	13	40				
LRP1B	53353	broad.mit.edu	37	2	141528566	141528566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:141528566G>A	ENST00000389484.3	-	34	6481	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1837	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)		TAGTTGGCAGGAATTGCTGCC	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(5509-5511)tCc>tTc		low density lipoprotein receptor-related protein 1B							118.0	112.0	114.0					2																	141528566		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141528566G>A	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.5510C>T	2.37:g.141528566G>A	ENSP00000374135:p.Ser1837Phe	TSP Lung(27;0.18)					p.S1837F	NM_018557.2	NP_061027.2	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)	34	6481	-		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)	1837			EGF-like 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5510C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524970	0.44969	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95588	-3.75	5.77	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.488949	0.21082	N	0.080461	D	0.93003	0.7773	L	0.52011	1.625	0.31119	N	0.709086	B	0.30763	0.294	B	0.21360	0.034	D	0.91884	0.5518	10	0.87932	D	0	.	15.955	0.79880	0.0:0.0:0.8639:0.1361	.	1837	Q9NZR2	LRP1B_HUMAN	F	1837;1775	ENSP00000374135:S1837F	ENSP00000374135:S1837F	S	-	2	0	LRP1B	141245036	1.000000	0.71417	0.989000	0.46669	0.359000	0.29487	3.560000	0.53763	1.391000	0.46566	0.591000	0.81541	TCC		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	23	0	0	0	0.000978	0	10	23				
IGDCC4	57722	broad.mit.edu	37	15	65703589	65703589	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:65703589C>T	ENST00000352385.2	-	2	399	c.190G>A	c.(190-192)Gct>Act	p.A64T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	64	Ig-like C2-type 1.|Poly-Ala.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A64T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGGTCCAGCGGCAGCAGCC	0.642																																						ENST00000352385.2																			1	Substitution - Missense(1)	p.A64T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(190-192)Gct>Act		immunoglobulin superfamily, DCC subclass, member 4							46.0	41.0	43.0					15																	65703589		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65703589C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.190G>A	15.37:g.65703589C>T	ENSP00000319623:p.Ala64Thr						p.A64T	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			2	399	-			64			Ig-like C2-type 1.|Poly-Ala.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.190G>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	2.693	-0.272733	0.05716	.	.	ENSG00000103742	ENST00000352385	T	0.78126	-1.15	4.6	-4.68	0.03309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.182760	0.05997	N	0.647011	T	0.64659	0.2618	L	0.33485	1.01	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.51655	-0.8678	10	0.48119	T	0.1	-5.0E-4	8.1344	0.31046	0.3993:0.4631:0.0:0.1376	.	64	Q8TDY8	IGDC4_HUMAN	T	64	ENSP00000319623:A64T	ENSP00000319623:A64T	A	-	1	0	IGDCC4	63490642	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.035000	0.12205	-1.000000	0.03438	-1.598000	0.00824	GCT		0.642	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		15	30	0	0	0	0.003163	0	15	30				
CDCP2	200008	broad.mit.edu	37	1	54607036	54607036	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:54607036C>T	ENST00000371330.1	-	3	1345	c.498G>A	c.(496-498)ccG>ccA	p.P166P	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	166	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCATGCTGTTCGGGTAGTTGT	0.607																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(496-498)ccG>ccA		CUB domain containing protein 2							55.0	55.0	55.0					1																	54607036		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54607036C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.498G>A	1.37:g.54607036C>T						RP11-446E24.4_ENST00000525949.1_5'UTR	p.P166P	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			3	1345	-			166			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.498G>A	CCDS588.2																																																																																				0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		22	20	0	0	0	0.001882	0	22	20				
CHEK2P2	646096	broad.mit.edu	37	15	20490555	20490555	+	RNA	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:20490555C>A	ENST00000555186.1	+	0	535					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GCATGTTTTACAACAGAAGAA	0.448																																						ENST00000555186.1																			0																																																			646096							g.chr15:20490555C>A			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490555C>A								NR_038836.1						0	535	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.448	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		28	449	1	0	5.45727e-16	0.008361	8.94992e-16	28	449				
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:106508473C>T	ENST00000359195.3	+	2	777	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	156					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(466-468)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							16.0	19.0	18.0					7																	106508473		2201	4294	6495	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508473C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.467C>T	7.37:g.106508473C>T	ENSP00000352121:p.Ala156Val					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V	p.A156V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	777	+			156					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.467C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.123	0.021022	0.08006	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69040	-0.37;-0.37;-0.37	5.33	4.32	0.51571	.	0.543240	0.21716	N	0.070186	T	0.45498	0.1345	N	0.14661	0.345	0.19575	N	0.999963	B	0.18310	0.027	B	0.12156	0.007	T	0.14531	-1.0469	10	0.15952	T	0.53	-13.9997	11.092	0.48121	0.3972:0.6028:0.0:0.0	.	156	P48736	PK3CG_HUMAN	V	156	ENSP00000392258:A156V;ENSP00000419260:A156V;ENSP00000352121:A156V	ENSP00000352121:A156V	A	+	2	0	PIK3CG	106295709	0.035000	0.19736	0.036000	0.18154	0.401000	0.30781	2.562000	0.45914	2.647000	0.89833	0.460000	0.39030	GCG		0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			4	25	0	0	0	0.001168	0	4	25				
ZNF846	162993	broad.mit.edu	37	19	9869059	9869059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:9869059C>T	ENST00000397902.2	-	6	1107	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	ZNF846_ENST00000592859.1_Missense_Mutation_p.G103R|ZNF846_ENST00000588267.1_Missense_Mutation_p.G103R|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGGCTTTCCCACATTCCTTA	0.383																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(694-696)Ggg>Agg		zinc finger protein 846							108.0	116.0	114.0					19																	9869059		2129	4259	6388	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869059C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.694G>A	19.37:g.9869059C>T	ENSP00000380999:p.Gly232Arg					ZNF846_ENST00000588267.1_Missense_Mutation_p.G103R|ZNF846_ENST00000592859.1_Missense_Mutation_p.G103R|ZNF846_ENST00000586293.1_3'UTR	p.G232R	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1107	-			232					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.694G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	19.02	3.745924	0.69418	.	.	ENSG00000196605	ENST00000397902	T	0.01484	4.84	1.69	0.63	0.17693	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	M	0.65498	2.005	0.80722	D	1	D	0.56035	0.974	P	0.49953	0.627	T	0.54529	-0.8280	8	.	.	.	.	6.1344	0.20223	0.0:0.8193:0.0:0.1807	.	232	Q147U1	ZN846_HUMAN	R	232	ENSP00000380999:G232R	.	G	-	1	0	ZNF846	9730059	0.000000	0.05858	0.001000	0.08648	0.732000	0.41865	0.606000	0.24194	0.289000	0.22422	0.558000	0.71614	GGG		0.383	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		14	40	0	0	0	0.003163	0	14	40				
RNF213	57674	broad.mit.edu	37	17	78269374	78269374	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78269374G>C	ENST00000582970.1	+	10	1916	c.1773G>C	c.(1771-1773)tgG>tgC	p.W591C	RNF213_ENST00000508628.2_Missense_Mutation_p.W640C|RNF213_ENST00000456466.1_Missense_Mutation_p.W591C|RNF213_ENST00000319921.4_Missense_Mutation_p.W591C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	591					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATACCTGTGGCAACATCTGA	0.517																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(1771-1773)tgG>tgC		ring finger protein 213							72.0	67.0	69.0					17																	78269374		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78269374G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1773G>C	17.37:g.78269374G>C	ENSP00000464087:p.Trp591Cys					RNF213_ENST00000508628.2_Missense_Mutation_p.W640C|RNF213_ENST00000456466.1_Missense_Mutation_p.W591C|RNF213_ENST00000319921.4_Missense_Mutation_p.W591C	p.W591C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		10	1916	+	all_neural(118;0.0538)		591					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1773G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	2.299	-0.360566	0.05103	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.22	4.22	0.49857	.	0.210998	0.32430	N	0.006120	T	0.75737	0.3890	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78383	-0.2225	9	0.72032	D	0.01	-19.945	12.8623	0.57920	0.0:0.0:1.0:0.0	.	591;591	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	C	591;640;591;591	.	ENSP00000324392:W591C	W	+	3	0	RNF213	75883969	0.999000	0.42202	0.933000	0.37362	0.019000	0.09904	4.392000	0.59659	2.283000	0.76528	0.558000	0.71614	TGG		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	30	0	0	0	0.008291	0	11	30				
ISL1	3670	broad.mit.edu	37	5	50685739	50685739	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:50685739C>G	ENST00000230658.7	+	4	1323	c.738C>G	c.(736-738)ctC>ctG	p.L246L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L246L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	246	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGAAGCAACTCCAGCAGCAGC	0.582																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(736-738)ctC>ctG		ISL LIM homeobox 1							54.0	63.0	60.0					5																	50685739		2200	4298	6498	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50685739C>G	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.738C>G	5.37:g.50685739C>G						ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L246L	p.L246L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			4	1323	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	246			Gln-rich.		P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.738C>G	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360835	0.05103	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.63	1.64	0.23874	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51356	-0.8716	5	0.87932	D	0	.	1.4818	0.02438	0.245:0.4176:0.1194:0.2179	.	.	.	.	A	193	.	ENSP00000421737:P193A	P	+	1	0	ISL1	50721496	0.561000	0.26578	0.998000	0.56505	0.355000	0.29361	-0.175000	0.09825	0.307000	0.22880	0.650000	0.86243	CCA		0.582	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		6	22	0	0	0	0.001168	0	6	22				
PKD1L1	168507	broad.mit.edu	37	7	47915768	47915768	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:47915768G>A	ENST00000289672.2	-	23	3761	c.3711C>T	c.(3709-3711)caC>caT	p.H1237H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1237	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTACAAAGTGTGTTTGGAGG	0.418																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3709-3711)caC>caT		polycystic kidney disease 1 like 1							165.0	145.0	152.0					7																	47915768		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47915768G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3711C>T	7.37:g.47915768G>A							p.H1237H	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			23	3761	-			1237			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.3711C>T	CCDS34633.1																																																																																				0.418	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		7	36	0	0	0	0.001984	0	7	36				
ZNF766	90321	broad.mit.edu	37	19	52794352	52794352	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:52794352G>A	ENST00000439461.1	+	4	1351	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.E451E|ZNF766_ENST00000593612.1_Silent_p.E451E	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ACACTGGAGAGAAACCTTACA	0.413																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(1306-1308)gaG>gaA		zinc finger protein 766							111.0	118.0	116.0					19																	52794352		2203	4300	6503	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52794352G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1308G>A	19.37:g.52794352G>A						ZNF766_ENST00000593612.1_Silent_p.E451E|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.E451E	p.E436E	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	1351	+			436					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.1308G>A	CCDS46163.1																																																																																				0.413	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		8	103	0	0	0	0.003080	0	8	103				
PRLR	5618	broad.mit.edu	37	5	35070274	35070274	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:35070274C>T	ENST00000382002.5	-	7	1063	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PRLR_ENST00000397391.3_Missense_Mutation_p.G142R|PRLR_ENST00000310101.5_Missense_Mutation_p.G213R|PRLR_ENST00000511486.1_Missense_Mutation_p.G112R|PRLR_ENST00000342362.5_Missense_Mutation_p.G112R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.G213R|PRLR_ENST00000231423.3_Missense_Mutation_p.G213R|PRLR_ENST00000348262.3_Missense_Mutation_p.G213R|PRLR_ENST00000542609.1_Missense_Mutation_p.G213R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	213	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CTCCAGTATCCATGGTCTGGT	0.448																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(637-639)Gga>Aga		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						113.0	95.0	101.0					5																	35070274		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35070274C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.637G>A	5.37:g.35070274C>T	ENSP00000371432:p.Gly213Arg					PRLR_ENST00000348262.3_Missense_Mutation_p.G213R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.G213R|PRLR_ENST00000513753.1_Missense_Mutation_p.G213R|PRLR_ENST00000231423.3_Missense_Mutation_p.G213R|PRLR_ENST00000397391.3_Missense_Mutation_p.G142R|PRLR_ENST00000542609.1_Missense_Mutation_p.G213R|PRLR_ENST00000511486.1_Missense_Mutation_p.G112R|PRLR_ENST00000342362.5_Missense_Mutation_p.G112R	p.G213R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1063	-	all_lung(31;3.83e-05)		213			Fibronectin type-III 2.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.637G>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620443	0.66787	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.65	5.65	0.86999	Fibronectin, type III (3);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.998;0.998;0.998;0.994	T	0.81754	-0.0788	10	0.87932	D	0	-16.7838	19.7319	0.96186	0.0:1.0:0.0:0.0	.	213;213;112;142;213;213;213	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	R	213;213;213;142;213;112;213;112;213	ENSP00000231423:G213R;ENSP00000424841:G213R;ENSP00000311613:G213R;ENSP00000380546:G142R;ENSP00000441813:G213R;ENSP00000339213:G112R;ENSP00000371432:G213R;ENSP00000422556:G112R;ENSP00000309008:G213R	ENSP00000231423:G213R	G	-	1	0	PRLR	35106031	1.000000	0.71417	0.996000	0.52242	0.062000	0.15995	7.089000	0.76909	2.668000	0.90789	0.655000	0.94253	GGA		0.448	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			14	55	0	0	0	0.001855	0	14	55				
ZRSR1	7310	broad.mit.edu	37	5	112227862	112227862	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:112227862A>T	ENST00000391338.1	+	1	550	c.526A>T	c.(526-528)Aat>Tat	p.N176Y	REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	176						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						GGATCGAGCTAATTGTCCCTT	0.413																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(526-528)Aat>Tat		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112227862A>T	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.526A>T	5.37:g.112227862A>T	ENSP00000375133:p.Asn176Tyr					REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron	p.N176Y	NM_001204199.1	NP_001191128.1					1	550	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.526A>T		.	.	.	.	.	.	.	.	.	.	A	6.766	0.510317	0.12883	.	.	ENSG00000212643	ENST00000391338	T	0.43294	0.95	2.31	0.956	0.19608	Zinc finger, CCCH-type (3);	0.090422	0.85682	N	0.000000	T	0.29652	0.0740	.	.	.	0.44462	D	0.997399	B	0.31680	0.335	B	0.34346	0.18	T	0.03576	-1.1023	9	0.40728	T	0.16	.	5.4711	0.16670	0.7507:0.0:0.0:0.2493	.	176	Q15695	U2AFL_HUMAN	Y	176	ENSP00000375133:N176Y	ENSP00000375133:N176Y	N	+	1	0	ZRSR1	112255761	1.000000	0.71417	0.001000	0.08648	0.806000	0.45545	3.505000	0.53356	-0.061000	0.13110	0.383000	0.25322	AAT		0.413	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		24	68	0	0	0	0.003330	0	24	68				
RASIP1	54922	broad.mit.edu	37	19	49224214	49224214	+	Silent	SNP	G	G	A	rs377403982		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:49224214G>A	ENST00000222145.4	-	12	2937	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	911					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGGGGGAGGATGAGGGGCG	0.642																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2731-2733)atC>atT		Ras interacting protein 1							33.0	37.0	36.0					19																	49224214		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224214G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2733C>T	19.37:g.49224214G>A							p.I911I	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	2937	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	911					Q6U676	Silent	SNP	ENST00000222145.4	37	c.2733C>T	CCDS12731.1																																																																																				0.642	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		7	29	0	0	0	0.001984	0	7	29				
GAL3ST1	9514	broad.mit.edu	37	22	30951885	30951885	+	Silent	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:30951885A>G	ENST00000402321.1	-	3	644	c.327T>C	c.(325-327)ccT>ccC	p.P109P	GAL3ST1_ENST00000406361.1_Silent_p.P109P|GAL3ST1_ENST00000406955.1_Silent_p.P109P|GAL3ST1_ENST00000443111.2_Silent_p.P109P|GAL3ST1_ENST00000338911.5_Silent_p.P109P|GAL3ST1_ENST00000401975.1_Silent_p.P109P|GAL3ST1_ENST00000402369.1_Silent_p.P109P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	109					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGCGGCCGTTAGGGAAGGCGA	0.597																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(325-327)ccT>ccC		galactose-3-O-sulfotransferase 1							98.0	83.0	88.0					22																	30951885		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951885A>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.327T>C	22.37:g.30951885A>G						GAL3ST1_ENST00000406955.1_Silent_p.P109P|GAL3ST1_ENST00000406361.1_Silent_p.P109P|GAL3ST1_ENST00000402369.1_Silent_p.P109P|GAL3ST1_ENST00000401975.1_Silent_p.P109P|GAL3ST1_ENST00000443111.2_Silent_p.P109P|GAL3ST1_ENST00000338911.5_Silent_p.P109P	p.P109P			Q99999	G3ST1_HUMAN			3	644	-			109					Q96C63	Silent	SNP	ENST00000402321.1	37	c.327T>C	CCDS13879.1																																																																																				0.597	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		3	133	0	0	0	0.000248	0	3	133				
MYEF2	50804	broad.mit.edu	37	15	48441469	48441469	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:48441469G>C	ENST00000324324.7	-	15	1757	c.1478C>G	c.(1477-1479)gCt>gGt	p.A493G	MYEF2_ENST00000267836.6_Missense_Mutation_p.A469G	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	493	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCCAGTATAGCTCCTATACC	0.488																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1477-1479)gCt>gGt		myelin expression factor 2							127.0	121.0	123.0					15																	48441469		2198	4296	6494	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48441469G>C	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1478C>G	15.37:g.48441469G>C	ENSP00000316950:p.Ala493Gly					MYEF2_ENST00000267836.6_Missense_Mutation_p.A469G	p.A493G	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	15	1757	-		all_lung(180;0.00217)	493			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1478C>G	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529273	0.27387	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.38887	1.11;1.11	4.9	4.9	0.64082	.	0.413335	0.22944	N	0.053748	T	0.17066	0.0410	N	0.01352	-0.895	0.25099	N	0.990794	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.09487	-1.0672	10	0.19590	T	0.45	-9.9692	14.0263	0.64588	0.0:0.1632:0.8368:0.0	.	469;493	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	G	493;469;81	ENSP00000316950:A493G;ENSP00000267836:A469G	ENSP00000267836:A469G	A	-	2	0	MYEF2	46228761	0.997000	0.39634	0.991000	0.47740	0.971000	0.66376	2.350000	0.44063	2.657000	0.90304	0.585000	0.79938	GCT		0.488	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		19	96	0	0	0	0.006122	0	19	96				
TNC	3371	broad.mit.edu	37	9	117783505	117783505	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:117783505G>C	ENST00000350763.4	-	28	6948	c.6537C>G	c.(6535-6537)atC>atG	p.I2179M	TNC_ENST00000346706.3_Missense_Mutation_p.I1633M|TNC_ENST00000345230.3_Missense_Mutation_p.I1542M|TNC_ENST00000535648.1_Missense_Mutation_p.I1724M|TNC_ENST00000542877.1_Missense_Mutation_p.I1816M|TNC_ENST00000341037.4_Missense_Mutation_p.I1997M|TNC_ENST00000340094.3_Missense_Mutation_p.I1815M|TNC_ENST00000423613.2_Missense_Mutation_p.I1906M|TNC_ENST00000537320.1_Missense_Mutation_p.I1542M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2179	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCAAACTGGATTGAGTGTT	0.478																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6535-6537)atC>atG		tenascin C							138.0	122.0	127.0					9																	117783505		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783505G>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6537C>G	9.37:g.117783505G>C	ENSP00000265131:p.Ile2179Met					TNC_ENST00000423613.2_Missense_Mutation_p.I1906M|TNC_ENST00000346706.3_Missense_Mutation_p.I1633M|TNC_ENST00000345230.3_Missense_Mutation_p.I1542M|TNC_ENST00000535648.1_Missense_Mutation_p.I1724M|TNC_ENST00000341037.4_Missense_Mutation_p.I1997M|TNC_ENST00000537320.1_Missense_Mutation_p.I1542M|TNC_ENST00000542877.1_Missense_Mutation_p.I1816M|TNC_ENST00000340094.3_Missense_Mutation_p.I1815M	p.I2179M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			28	6948	-			2179			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6537C>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923425	0.52653	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.11	2.19	0.27852	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.051601	0.85682	D	0.000000	T	0.80003	0.4544	L	0.45285	1.41	0.23886	N	0.996561	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.67745	-0.5591	10	0.87932	D	0	.	5.5387	0.17026	0.2181:0.0:0.6442:0.1377	.	1906;2179	E9PC84;P24821	.;TENA_HUMAN	M	1815;1724;1633;1542;2179;1997;1906;1542;1816	ENSP00000344400:I1815M;ENSP00000438152:I1724M;ENSP00000344555:I1633M;ENSP00000345861:I1542M;ENSP00000265131:I2179M;ENSP00000339553:I1997M;ENSP00000411406:I1906M;ENSP00000443478:I1542M;ENSP00000442242:I1816M	ENSP00000344400:I1815M	I	-	3	3	TNC	116823326	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.576000	0.36504	0.536000	0.28733	-0.181000	0.13052	ATC		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		15	80	0	0	0	0.004990	0	15	80				
PCDH15	65217	broad.mit.edu	37	10	55912869	55912869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912869G>T	ENST00000320301.6	-	14	2169	c.1775C>A	c.(1774-1776)gCa>gAa	p.A592E	PCDH15_ENST00000395433.1_Missense_Mutation_p.A570E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A592E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395445.1_Missense_Mutation_p.A599E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.A570E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A592E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A203E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A555E|PCDH15_ENST00000395446.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A599E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A592E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A597E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTCGCTCTGCAGGAGGAGC	0.458										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1795-1797)gCa>gAa		protocadherin-related 15							93.0	84.0	87.0					10																	55912869		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912869G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1775C>A	10.37:g.55912869G>T	ENSP00000322604:p.Ala592Glu	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Missense_Mutation_p.A592E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A592E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A592E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A203E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A592E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A597E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A592E|PCDH15_ENST00000373957.3_Missense_Mutation_p.A570E|PCDH15_ENST00000395445.1_Missense_Mutation_p.A599E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A555E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A570E	p.A599E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			15	2190	-		Melanoma(3;0.117)|Lung SC(717;0.238)	592			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1796C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	6.683	0.494542	0.12702	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.44;0.48;0.43;0.41;0.42;0.42;0.39;0.37;0.41;0.3;0.37;0.37;0.67;0.49	5.83	3.92	0.45320	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50701	0.1631	L	0.43646	1.37	0.26141	N	0.980287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26935	0.02;0.009;0.009;0.004;0.164;0.009;0.02;0.003;0.009;0.009;0.009;0.009;0.001;0.005;0.009	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32090	0.044;0.02;0.02;0.02;0.14;0.02;0.044;0.02;0.02;0.02;0.02;0.02;0.005;0.02;0.02	T	0.51052	-0.8754	9	0.72032	D	0.01	.	8.4376	0.32797	0.0706:0.0:0.6572:0.2721	.	570;592;592;597;592;555;592;592;599;599;592;597;592;570;592	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	599;597;592;592;203;599;592;555;592;570;570;592;592;597;592;592	ENSP00000363076:A599E;ENSP00000410304:A597E;ENSP00000378826:A592E;ENSP00000386693:A203E;ENSP00000378832:A599E;ENSP00000378833:A592E;ENSP00000378820:A555E;ENSP00000354950:A592E;ENSP00000378821:A570E;ENSP00000363068:A570E;ENSP00000322604:A592E;ENSP00000378818:A592E;ENSP00000412628:A592E;ENSP00000363066:A592E	ENSP00000322604:A592E	A	-	2	0	PCDH15	55582875	0.222000	0.23652	0.987000	0.45799	0.995000	0.86356	2.992000	0.49417	1.478000	0.48253	0.650000	0.86243	GCA		0.458	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	47	1	0	5.16669e-11	0.000978	8.04433e-11	12	47				
BTBD2	55643	broad.mit.edu	37	19	1993166	1993166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:1993166G>C	ENST00000255608.4	-	3	553	c.537C>G	c.(535-537)taC>taG	p.Y179*	AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'UTR|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	179	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCCGAGTAGAGAAACC	0.647																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(535-537)taC>taG		BTB (POZ) domain containing 2							65.0	48.0	54.0					19																	1993166		2203	4300	6503	SO:0001587	stop_gained	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1993166G>C	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.537C>G	19.37:g.1993166G>C	ENSP00000255608:p.Tyr179*					BTBD2_ENST00000590646.1_5'UTR	p.Y179*	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	553	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	179			BTB.		O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Nonsense_Mutation	SNP	ENST00000255608.4	37	c.537C>G	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890336	0.91889	.	.	ENSG00000133243	ENST00000255608	.	.	.	4.11	1.74	0.24563	.	0.066835	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.8613	8.9394	0.35720	0.2915:0.0:0.7085:0.0	.	.	.	.	X	179	.	ENSP00000255608:Y179X	Y	-	3	2	BTBD2	1944166	1.000000	0.71417	0.284000	0.24805	0.775000	0.43874	0.687000	0.25407	0.850000	0.35239	0.561000	0.74099	TAC		0.647	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			5	24	0	0	0	0.000602	0	5	24				
CTU2	348180	broad.mit.edu	37	16	88776402	88776402	+	Missense_Mutation	SNP	G	G	A	rs149997219	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:88776402G>A	ENST00000453996.2	+	3	268	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	CTU2_ENST00000312060.5_Missense_Mutation_p.R67Q|CTU2_ENST00000378384.3_Intron|CTU2_ENST00000567949.1_Missense_Mutation_p.R67Q	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCAAGAACCGGCTCATCTTT	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		18468	0.0		0.002	False		,,,				2504	0.0					ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(199-201)cGg>cAg		cytosolic thiouridylase subunit 2 homolog (S. pombe)		G	GLN/ARG,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	141.0	135.0	137.0		200,200	4.0	0.9	16	dbSNP_134	137	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	43,43	0,11,6487	AA,AG,GG		0.1163,0.0227,0.0846	probably-damaging,probably-damaging	67/516,67/486	88776402	11,12985	2198	4300	6498	SO:0001583	missense	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88776402G>A	BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 84"""	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.200G>A	16.37:g.88776402G>A	ENSP00000388320:p.Arg67Gln					CTU2_ENST00000378384.3_Intron|CTU2_ENST00000312060.5_Missense_Mutation_p.R67Q|CTU2_ENST00000453996.2_Missense_Mutation_p.R67Q	p.R67Q			Q2VPK5	CTU2_HUMAN			3	209	+			67						Missense_Mutation	SNP	ENST00000453996.2	37	c.200G>A	CCDS45545.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	31	5.081240	0.94050	2.27E-4	0.001163	ENSG00000174177	ENST00000312060;ENST00000453996	T;T	0.44482	0.92;0.92	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63786	-0.6558	10	0.33940	T	0.23	.	15.2846	0.73819	0.0:0.0:1.0:0.0	.	67;67	Q2VPK5-5;Q2VPK5	.;CTU2_HUMAN	Q	67	ENSP00000308617:R67Q;ENSP00000388320:R67Q	ENSP00000308617:R67Q	R	+	2	0	CTU2	87303903	1.000000	0.71417	0.927000	0.36925	0.976000	0.68499	8.290000	0.89925	1.958000	0.56883	0.297000	0.19635	CGG		0.612	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423025.1	NM_001012762		42	68	0	0	0	0.003214	0	42	68				
CEP57	9702	broad.mit.edu	37	11	95564382	95564382	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:95564382A>G	ENST00000325542.5	+	11	1703	c.1465A>G	c.(1465-1467)Aat>Gat	p.N489D	CEP57_ENST00000541150.1_Missense_Mutation_p.N480D|CEP57_ENST00000325486.5_Missense_Mutation_p.N463D|CEP57_ENST00000537677.1_Missense_Mutation_p.N462D	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	489	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCATACAGAATTCATTACA	0.343									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1465-1467)Aat>Gat		centrosomal protein 57kDa							51.0	52.0	52.0					11																	95564382		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95564382A>G	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1465A>G	11.37:g.95564382A>G	ENSP00000317902:p.Asn489Asp					CEP57_ENST00000325486.5_Missense_Mutation_p.N463D|CEP57_ENST00000537677.1_Missense_Mutation_p.N462D|CEP57_ENST00000541150.1_Missense_Mutation_p.N480D	p.N489D	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			11	1703	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	489			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.1465A>G	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872136	0.51695	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.32023	1.5;1.49;1.47;1.49	5.52	5.52	0.82312	.	0.454150	0.23463	N	0.047903	T	0.27765	0.0683	L	0.40543	1.245	0.35421	D	0.793266	B;B;B	0.30361	0.066;0.277;0.039	B;B;B	0.24394	0.033;0.053;0.024	T	0.37478	-0.9704	10	0.87932	D	0	-2.0558	15.6528	0.77110	1.0:0.0:0.0:0.0	.	480;463;489	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	D	462;489;463;480	ENSP00000441392:N462D;ENSP00000317902:N489D;ENSP00000317487:N463D;ENSP00000443436:N480D	ENSP00000317487:N463D	N	+	1	0	CEP57	95204030	1.000000	0.71417	0.986000	0.45419	0.877000	0.50540	4.841000	0.62824	2.088000	0.63022	0.455000	0.32223	AAT		0.343	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		17	8	0	0	0	0.004990	0	17	8				
ZNF737	100129842	broad.mit.edu	37	19	20728196	20728196	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:20728196G>A	ENST00000427401.4	-	4	907	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTGTAGTAAGGTTAGAGGAGC	0.413																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(811-813)aaC>aaT		zinc finger protein 737							43.0	41.0	42.0					19																	20728196		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728196G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.813C>T	19.37:g.20728196G>A							p.N271N	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	907	-			271					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.813C>T	CCDS54238.1																																																																																				0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	25	0	0	0	0.004672	0	3	25				
IREB2	3658	broad.mit.edu	37	15	78758639	78758639	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78758639G>C	ENST00000258886.8	+	5	586	c.437G>C	c.(436-438)gGa>gCa	p.G146A	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.G146A	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	146					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CCAAATCCTGGAGGTGGTGAC	0.433																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(436-438)gGa>gCa		iron-responsive element binding protein 2							52.0	50.0	51.0					15																	78758639		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78758639G>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.437G>C	15.37:g.78758639G>C	ENSP00000258886:p.Gly146Ala					IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.G146A	p.G146A	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	5	586	+			146					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.437G>C	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422746	0.62733	.	.	ENSG00000136381	ENST00000258886	T	0.16897	2.31	6.08	6.08	0.98989	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.151580	0.64402	D	0.000014	T	0.25457	0.0619	N	0.22421	0.69	0.51012	D	0.999901	D;P	0.67145	0.996;0.704	D;B	0.63488	0.915;0.388	T	0.00686	-1.1610	10	0.39692	T	0.17	.	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	146;146	P48200;Q8WVK6	IREB2_HUMAN;.	A	146	ENSP00000258886:G146A	ENSP00000258886:G146A	G	+	2	0	IREB2	76545694	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.427000	0.73378	2.894000	0.99253	0.591000	0.81541	GGA		0.433	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		4	35	0	0	0	0.000602	0	4	35				
ANKRD44	91526	broad.mit.edu	37	2	197990618	197990618	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990618G>A	ENST00000328737.2	-	5	406	c.330C>T	c.(328-330)gtC>gtT	p.V110V	ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000409919.1_Silent_p.V135V|ANKRD44_ENST00000539527.1_Silent_p.V63V|ANKRD44_ENST00000337207.5_Silent_p.V110V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	135										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(328-330)gtC>gtT		ankyrin repeat domain 44							142.0	133.0	136.0					2																	197990618		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197990618G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.330C>T	2.37:g.197990618G>A						ANKRD44_ENST00000337207.5_Silent_p.V110V|ANKRD44_ENST00000539527.1_Silent_p.V63V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000409919.1_Silent_p.V135V	p.V110V			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	406	-			135					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.330C>T																																																																																					0.557	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		29	125	0	0	0	0.006320	0	29	125				
DNAAF3	352909	broad.mit.edu	37	19	55670431	55670431	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:55670431C>G	ENST00000524407.2	-	12	1658	c.1625G>C	c.(1624-1626)tGa>tCa	p.*542S	TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Nonstop_Mutation_p.*589S|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000527223.2_Nonstop_Mutation_p.*609S|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Nonstop_Mutation_p.*488S|CTD-2587H24.4_ENST00000587871.1_Intron|TNNI3_ENST00000344887.5_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	0					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GGGGTTGGGTCAGACTCCAGT	0.542																																						ENST00000527223.2																			0											c.(1825-1827)tGa>tCa		dynein, axonemal, assembly factor 3							23.0	27.0	26.0					19																	55670431		1824	4017	5841	SO:0001578	stop_lost	352909							g.chr19:55670431C>G	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1625G>C	19.37:g.55670431C>G						CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Nonstop_Mutation_p.*488S|CTD-2587H24.4_ENST00000587871.1_Intron|DNAAF3_ENST00000391720.4_Nonstop_Mutation_p.*589S|DNAAF3_ENST00000524407.2_Nonstop_Mutation_p.*542S	p.*609S	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			12	1827	-			0					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Nonstop_Mutation	SNP	ENST00000524407.2	37	c.1826G>C	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	8.147	0.786530	0.16189	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	.	.	.	2.86	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3282	0.26567	0.0:0.8528:0.0:0.1472	.	.	.	.	S	609;488;589	.	.	X	-	2	2	C19orf51	60362243	0.003000	0.15002	0.002000	0.10522	0.219000	0.24729	0.769000	0.26604	0.734000	0.32515	0.457000	0.33378	TGA		0.542	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		6	34	0	0	0	0.003080	0	6	34				
MERTK	10461	broad.mit.edu	37	2	112705062	112705062	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:112705062G>C	ENST00000295408.4	+	4	932	c.675G>C	c.(673-675)gaG>gaC	p.E225D	MERTK_ENST00000409780.1_Missense_Mutation_p.E49D|MERTK_ENST00000421804.2_Missense_Mutation_p.E225D			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	225	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCGCCTGAGCCCGTCAACA	0.532																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(673-675)gaG>gaC		c-mer proto-oncogene tyrosine kinase							70.0	71.0	71.0					2																	112705062		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112705062G>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.675G>C	2.37:g.112705062G>C	ENSP00000295408:p.Glu225Asp					MERTK_ENST00000421804.2_Missense_Mutation_p.E225D|MERTK_ENST00000409780.1_Missense_Mutation_p.E49D	p.E225D			Q12866	MERTK_HUMAN			4	932	+			225			Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.675G>C	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462448	0.43736	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.12147	2.71;2.71;2.71	5.24	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33712	U	0.004639	T	0.16128	0.0388	M	0.66506	2.035	0.41995	D	0.990866	B	0.33171	0.4	B	0.31946	0.138	T	0.01977	-1.1236	10	0.52906	T	0.07	-30.5981	10.8536	0.46784	0.1523:0.0:0.8477:0.0	.	225	Q12866	MERTK_HUMAN	D	225;225;49	ENSP00000295408:E225D;ENSP00000389152:E225D;ENSP00000387277:E49D	ENSP00000295408:E225D	E	+	3	2	MERTK	112421533	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	0.499000	0.22546	2.608000	0.88229	0.655000	0.94253	GAG		0.532	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			37	61	0	0	0	0.003755	0	37	61				
NUP205	23165	broad.mit.edu	37	7	135272382	135272382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:135272382G>C	ENST00000285968.6	+	9	1304	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	NUP205_ENST00000440390.2_Missense_Mutation_p.Q220H	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	426					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGTATGCAGATGGGTAATG	0.373																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1276-1278)caG>caC		nucleoporin 205kDa							83.0	83.0	83.0					7																	135272382		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272382G>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1278G>C	7.37:g.135272382G>C	ENSP00000285968:p.Gln426His					NUP205_ENST00000440390.2_Missense_Mutation_p.Q220H	p.Q426H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			9	1304	+			426					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1278G>C	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459321	0.63401	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	T;T	0.35421	1.31;1.31	5.55	4.62	0.57501	.	0.052483	0.85682	D	0.000000	T	0.41236	0.1150	M	0.71036	2.16	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.39292	-0.9621	10	0.59425	D	0.04	-0.3794	16.3572	0.83239	0.0:0.0:0.8679:0.1321	.	426	Q92621	NU205_HUMAN	H	426;220	ENSP00000285968:Q426H;ENSP00000401983:Q220H	ENSP00000285968:Q426H	Q	+	3	2	NUP205	134922922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.749000	0.85096	2.753000	0.94483	0.655000	0.94253	CAG		0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			6	45	0	0	0	0.001168	0	6	45				
HACE1	57531	broad.mit.edu	37	6	105232953	105232953	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:105232953G>C	ENST00000262903.4	-	12	1592	c.1316C>G	c.(1315-1317)gCa>gGa	p.A439G	HACE1_ENST00000369125.2_Missense_Mutation_p.A439G|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	439					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGACAATCTGCACTGGCTTC	0.478																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(1315-1317)gCa>gGa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							94.0	87.0	90.0					6																	105232953		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105232953G>C	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1316C>G	6.37:g.105232953G>C	ENSP00000262903:p.Ala439Gly					HACE1_ENST00000369125.2_Missense_Mutation_p.A439G	p.A439G	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	12	1592	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	439					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1316C>G	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720749	0.30503	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.39592	1.07;1.08	4.8	2.87	0.33458	.	0.099729	0.64402	D	0.000002	T	0.13927	0.0337	N	0.22421	0.69	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.04320	-1.0960	10	0.31617	T	0.26	.	10.3408	0.43877	0.0786:0.1385:0.7829:0.0	.	439;439;92	E9PGP0;Q8IYU2;Q8IYU2-3	.;HACE1_HUMAN;.	G	439	ENSP00000262903:A439G;ENSP00000358121:A439G	ENSP00000262903:A439G	A	-	2	0	HACE1	105339646	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.437000	0.52863	2.380000	0.81148	0.467000	0.42956	GCA		0.478	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		8	37	0	0	0	0.003080	0	8	37				
MIR381HG	378881	broad.mit.edu	37	14	101521047	101521047	+	lincRNA	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:101521047G>C	ENST00000553692.1	+	0	850				MIR487A_ENST00000384827.1_RNA|AL132709.3_ENST00000577219.1_RNA|MIR382_ENST00000385009.2_RNA|MIR485_ENST00000385292.2_RNA|MIR134_ENST00000385258.2_RNA|MIR323B_ENST00000385269.2_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		TGGTTGACCAGAGGGGCATGC	0.587																																						ENST00000385258.2																			0																				81.0	80.0	80.0					14																	101521047		1568	3582	5150			406924							g.chr14:101521047G>C	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101521047G>C								NR_029698.1						0	40	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.587	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			5	57	0	0	0	0.000602	0	5	57				
LRRCC1	85444	broad.mit.edu	37	8	86048078	86048078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:86048078C>G	ENST00000360375.3	+	14	2358	c.2209C>G	c.(2209-2211)Caa>Gaa	p.Q737E	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Q717E	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	737					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAGAGTATTCAAATAGAACT	0.318																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2149-2151)Caa>Gaa		leucine rich repeat and coiled-coil centrosomal protein 1							73.0	71.0	71.0					8																	86048078		1822	4076	5898	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86048078C>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2209C>G	8.37:g.86048078C>G	ENSP00000353538:p.Gln737Glu					LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q737E	p.Q717E			Q9C099	LRCC1_HUMAN			13	3038	+			737					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2149C>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595009	0.86953	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.37752	1.18;1.18	5.91	5.91	0.95273	.	0.000000	0.39544	N	0.001340	T	0.56499	0.1989	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.997;0.996	D;D;D;D	0.76071	0.921;0.987;0.921;0.952	T	0.43669	-0.9377	10	0.09843	T	0.71	-22.628	19.9115	0.97026	0.0:1.0:0.0:0.0	.	644;717;644;737	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	E	737;717	ENSP00000353538:Q737E;ENSP00000394695:Q717E	ENSP00000353538:Q737E	Q	+	1	0	LRRCC1	86235330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.861000	0.62969	2.804000	0.96469	0.650000	0.86243	CAA		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		6	76	0	0	0	0.001168	0	6	76				
IGHV3-43	28426	broad.mit.edu	37	14	106926394	106926394	+	RNA	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:106926394C>T	ENST00000434710.1	-	0	227									immunoglobulin heavy variable 3-43																		ATGGTATAATCATCAAAGGTG	0.552																																						ENST00000434710.1																			0																				175.0	117.0	135.0					14																	106926394		1939	4123	6062			28426							g.chr14:106926394C>T	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926394C>T														0	227	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.552	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		18	183	0	0	0	0.004990	0	18	183				
ZFAT	57623	broad.mit.edu	37	8	135602519	135602519	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:135602519T>A	ENST00000377838.3	-	8	2729	c.2555A>T	c.(2554-2556)aAc>aTc	p.N852I	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.N840I|ZFAT_ENST00000520214.1_Missense_Mutation_p.N840I|ZFAT_ENST00000429442.2_Missense_Mutation_p.N840I|ZFAT_ENST00000523399.1_Missense_Mutation_p.N790I|ZFAT_ENST00000520727.1_Missense_Mutation_p.N840I	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	852					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCAGGATGGTTGGTCTTGAT	0.308																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2518-2520)aAc>aTc		zinc finger and AT hook domain containing							92.0	89.0	90.0					8																	135602519		1843	4088	5931	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135602519T>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2555A>T	8.37:g.135602519T>A	ENSP00000367069:p.Asn852Ile					ZFAT_ENST00000520356.1_Missense_Mutation_p.N840I|ZFAT_ENST00000520214.1_Missense_Mutation_p.N840I|ZFAT_ENST00000377838.3_Missense_Mutation_p.N852I|ZFAT_ENST00000429442.2_Missense_Mutation_p.N840I|ZFAT_ENST00000523399.1_Missense_Mutation_p.N790I|ZFAT_ENST00000517307.1_5'UTR	p.N840I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		9	2818	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		852					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2519A>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618840	0.66787	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.09817	3.01;2.95;2.96;2.94;2.95;2.95	5.2	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.371469	0.28209	N	0.016184	T	0.17831	0.0428	N	0.19112	0.55	0.46437	D	0.999042	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.972;0.994;0.997	T	0.01961	-1.1239	10	0.87932	D	0	-30.3797	10.5485	0.45074	0.1449:0.0:0.0:0.8551	.	790;840;852	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	I	840;840;840;852;840;739;790	ENSP00000427879:N840I;ENSP00000427831:N840I;ENSP00000394501:N840I;ENSP00000367069:N852I;ENSP00000428483:N840I;ENSP00000429091:N790I	ENSP00000326997:N739I	N	-	2	0	ZFAT	135671701	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.085000	0.57657	0.797000	0.33971	0.450000	0.29827	AAC		0.308	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	102	0	0	0	0.004007	0	17	102				
ZNF420	147923	broad.mit.edu	37	19	37619879	37619879	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37619879G>C	ENST00000337995.3	+	5	2201	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H	ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAACATCAGAGAATTCATA	0.373																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1984-1986)caG>caC		zinc finger protein 420							86.0	86.0	86.0					19																	37619879		2203	4299	6502	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619879G>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1986G>C	19.37:g.37619879G>C	ENSP00000338770:p.Gln662His					ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF585A_ENST00000588723.1_Intron	p.Q662H	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2201	+			662					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1986G>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133014	0.21041	.	.	ENSG00000197050	ENST00000337995	T	0.36520	1.25	4.46	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35451	0.0932	M	0.82823	2.61	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	8	.	.	.	.	4.3536	0.11167	0.2348:0.0:0.582:0.1831	.	662	Q8TAQ5	ZN420_HUMAN	H	662	ENSP00000338770:Q662H	.	Q	+	3	2	ZNF420	42311719	0.000000	0.05858	0.910000	0.35882	0.995000	0.86356	-0.347000	0.07750	1.054000	0.40438	0.655000	0.94253	CAG		0.373	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		7	54	0	0	0	0.001984	0	7	54				
ANKRD44	91526	broad.mit.edu	37	2	197990157	197990157	+	Missense_Mutation	SNP	G	G	C	rs541978099		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990157G>C	ENST00000328737.2	-	6	499	c.423C>G	c.(421-423)atC>atG	p.I141M	ANKRD44_ENST00000450567.1_Missense_Mutation_p.I141M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.I166M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.I158M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.I166M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.I94M|ANKRD44_ENST00000337207.5_Missense_Mutation_p.I141M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	166										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAAATGCATTGATATTTGCCC	0.438																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(421-423)atC>atG		ankyrin repeat domain 44							129.0	119.0	123.0					2																	197990157		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990157G>C	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.423C>G	2.37:g.197990157G>C	ENSP00000331516:p.Ile141Met					ANKRD44_ENST00000337207.5_Missense_Mutation_p.I141M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.I94M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.I166M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.I141M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.I158M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.I166M	p.I141M			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	499	-			166					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.423C>G		.	.	.	.	.	.	.	.	.	.	G	13.36	2.212993	0.39102	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.67865	-0.27;-0.27;-0.27;-0.27;-0.27;-0.29;-0.27	5.06	1.21	0.21127	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.68593	2.085	0.42683	D	0.99355	P;D	0.71674	0.794;0.998	P;D	0.79784	0.745;0.993	T	0.70124	-0.4958	10	0.66056	D	0.02	.	4.4666	0.11692	0.3771:0.0:0.4714:0.1514	.	94;166	F5H682;Q8N8A2-3	.;.	M	158;141;141;141;166;94;166	ENSP00000282272:I158M;ENSP00000331516:I141M;ENSP00000402420:I141M;ENSP00000338794:I141M;ENSP00000387141:I166M;ENSP00000437825:I94M;ENSP00000387233:I166M	ENSP00000282272:I158M	I	-	3	3	ANKRD44	197698402	0.998000	0.40836	0.998000	0.56505	0.336000	0.28762	0.438000	0.21559	0.031000	0.15407	-0.140000	0.14226	ATC		0.438	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		34	108	0	0	0	0.004289	0	34	108				
CROCCP2	84809	broad.mit.edu	37	1	16955029	16955029	+	lincRNA	SNP	C	C	T	rs569509404		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:16955029C>T	ENST00000412962.1	-	0	410							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TTCCTCCAGCCGGTCCCGCTG	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		60668	0.0		0.001	False		,,,				2504	0.0					ENST00000412962.1																			0																																																			84809							g.chr1:16955029C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16955029C>T														0	410	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.682	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	6	0	0	0	0.004672	0	3	6				
RP11-423O2.5	0	broad.mit.edu	37	1	142803598	142803598	+	lincRNA	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:142803598A>G	ENST00000423385.1	-	0	1367																											TATGTTAACTAAGAAAATATA	0.289																																						ENST00000423385.1																			0																																																			0							g.chr1:142803598A>G																													1.37:g.142803598A>G														0	1367	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.289	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			11	47	0	0	0	0.000978	0	11	47				
FHDC1	85462	broad.mit.edu	37	4	153896099	153896099	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:153896099G>C	ENST00000511601.1	+	12	1844	c.1656G>C	c.(1654-1656)ctG>ctC	p.L552L	FHDC1_ENST00000260008.3_Silent_p.L552L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	552									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGGAGCTGCTGACCTTCTTGG	0.716																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1654-1656)ctG>ctC		FH2 domain containing 1							12.0	16.0	15.0					4																	153896099		2187	4277	6464	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896099G>C	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1656G>C	4.37:g.153896099G>C						FHDC1_ENST00000260008.3_Silent_p.L552L	p.L552L			Q9C0D6	FHDC1_HUMAN			12	1844	+	all_hematologic(180;0.093)		552						Silent	SNP	ENST00000511601.1	37	c.1656G>C	CCDS34081.1																																																																																				0.716	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		3	29	0	0	0	0.004672	0	3	29				
JADE2	23338	broad.mit.edu	37	5	133895524	133895524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:133895524C>T	ENST00000402835.1	+	5	571	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	PHF15_ENST00000395003.1_Missense_Mutation_p.L106F|PHF15_ENST00000361895.2_Missense_Mutation_p.L106F|PHF15_ENST00000282605.4_Missense_Mutation_p.L106F																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTAGGATCCTCCCACCACT	0.632																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(316-318)Ctc>Ttc									38.0	37.0	38.0					5																	133895524		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133895524C>T																												ENST00000402835.1:c.316C>T	5.37:g.133895524C>T	ENSP00000384671:p.Leu106Phe					PHF15_ENST00000361895.2_Missense_Mutation_p.L106F|PHF15_ENST00000402835.1_Missense_Mutation_p.L106F|PHF15_ENST00000282605.4_Missense_Mutation_p.L106F	p.L106F	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	495	+			106						Missense_Mutation	SNP	ENST00000402835.1	37	c.316C>T		.	.	.	.	.	.	.	.	.	.	C	12.64	1.997623	0.35226	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.84	4.92	0.64577	Enhancer of polycomb-like, N-terminal (1);	0.523661	0.18458	N	0.140602	T	0.39627	0.1085	L	0.39898	1.24	0.48452	D	0.999655	B;B;B;B;B	0.15719	0.001;0.014;0.002;0.005;0.006	B;B;B;B;B	0.24394	0.008;0.053;0.012;0.012;0.022	T	0.34304	-0.9834	10	0.72032	D	0.01	.	9.1026	0.36678	0.156:0.5942:0.2498:0.0	.	106;106;106;106;122	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	F	106;106;122;106;106;106;106;106;106	ENSP00000422991:L106F;ENSP00000282605:L106F;ENSP00000354425:L106F;ENSP00000384671:L106F;ENSP00000378451:L106F;ENSP00000406189:L106F	ENSP00000282605:L106F	L	+	1	0	PHF15	133923423	0.752000	0.28338	0.980000	0.43619	0.489000	0.33432	1.847000	0.39299	2.768000	0.95171	0.561000	0.74099	CTC		0.632	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			10	23	0	0	0	0.008291	0	10	23				
ZNF567	163081	broad.mit.edu	37	19	37210699	37210699	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37210699C>A	ENST00000536254.2	+	6	1295	c.1073C>A	c.(1072-1074)aCt>aAt	p.T358N	ZNF567_ENST00000588311.1_Missense_Mutation_p.T327N|ZNF567_ENST00000585696.1_Missense_Mutation_p.T327N|ZNF567_ENST00000392163.2_Missense_Mutation_p.T327N|ZNF567_ENST00000360729.4_Missense_Mutation_p.T327N|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	358					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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAGAACTCACACGGGA	0.448																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(979-981)aCt>aAt		zinc finger protein 567							75.0	69.0	71.0					19																	37210699		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210699C>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1073C>A	19.37:g.37210699C>A	ENSP00000441838:p.Thr358Asn					ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.T358N|ZNF567_ENST00000392163.2_Missense_Mutation_p.T327N|ZNF567_ENST00000588311.1_Missense_Mutation_p.T327N|ZNF567_ENST00000360729.4_Missense_Mutation_p.T327N	p.T327N			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2210	+	Esophageal squamous(110;0.198)		358					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.980C>A		.	.	.	.	.	.	.	.	.	.	C	14.97	2.694083	0.48202	.	.	ENSG00000189042	ENST00000536254;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.12774	2.65;2.65;2.65	4.53	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000628	T	0.12689	0.0308	L	0.54863	1.705	0.80722	D	1	B;B	0.23058	0.079;0.064	B;B	0.27500	0.08;0.048	T	0.06917	-1.0800	10	0.52906	T	0.07	.	6.2057	0.20602	0.0:0.607:0.0:0.393	.	358;327	Q8N184;F8WEL6	ZN567_HUMAN;.	N	358;327;357;327	ENSP00000441838:T358N;ENSP00000353957:T327N;ENSP00000376003:T327N	ENSP00000353957:T327N	T	+	2	0	ZNF567	41902539	0.000000	0.05858	0.998000	0.56505	0.985000	0.73830	-1.031000	0.03578	0.624000	0.30286	0.462000	0.41574	ACT		0.448	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		9	37	1	0	3.09899e-07	0.004482	4.70587e-07	9	37				
TPO	7173	broad.mit.edu	37	2	1481015	1481015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:1481015C>T	ENST00000345913.4	+	8	1068	c.977C>T	c.(976-978)gCg>gTg	p.A326V	TPO_ENST00000337415.3_Missense_Mutation_p.A326V|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A326V|TPO_ENST00000329066.4_Missense_Mutation_p.A326V|TPO_ENST00000382201.3_Missense_Mutation_p.A326V|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	326			A -> T (in TDH2A). {ECO:0000269|PubMed:11061528}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCTGGACGCGTCCACCGTG	0.701																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(976-978)gCg>gTg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						20.0	18.0	19.0					2																	1481015		2200	4290	6490	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1481015C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.977C>T	2.37:g.1481015C>T	ENSP00000318820:p.Ala326Val					TPO_ENST00000346956.3_Missense_Mutation_p.A326V|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.A326V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A326V|TPO_ENST00000329066.4_Missense_Mutation_p.A326V	p.A326V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	1068	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	326		A -> T (in TDH2A).			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.977C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050516	0.93740	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000536482;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90785	0.4682	10	0.87932	D	0	-31.3582	18.2782	0.90089	0.0:1.0:0.0:0.0	.	326;326;326	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	V	326;326;326;10;326;326;255	ENSP00000337263:A326V;ENSP00000318820:A326V;ENSP00000263886:A326V;ENSP00000329869:A326V;ENSP00000371636:A326V;ENSP00000405788:A255V	ENSP00000329869:A326V	A	+	2	0	TPO	1460022	1.000000	0.71417	0.968000	0.41197	0.768000	0.43524	4.616000	0.61197	2.315000	0.78130	0.460000	0.39030	GCG		0.701	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	14	0	0	0	0.001984	0	7	14				
ANKRD44	91526	broad.mit.edu	37	2	197990663	197990663	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990663G>A	ENST00000328737.2	-	5	361	c.285C>T	c.(283-285)gtC>gtT	p.V95V	ANKRD44_ENST00000450567.1_Silent_p.V95V|ANKRD44_ENST00000409153.1_Silent_p.V120V|ANKRD44_ENST00000282272.8_Silent_p.V112V|ANKRD44_ENST00000409919.1_Silent_p.V120V|ANKRD44_ENST00000539527.1_Silent_p.V48V|ANKRD44_ENST00000337207.5_Silent_p.V95V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	120										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGCACATTTGACAGCCTTGT	0.552																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(283-285)gtC>gtT		ankyrin repeat domain 44							167.0	154.0	158.0					2																	197990663		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197990663G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.285C>T	2.37:g.197990663G>A						ANKRD44_ENST00000337207.5_Silent_p.V95V|ANKRD44_ENST00000539527.1_Silent_p.V48V|ANKRD44_ENST00000409153.1_Silent_p.V120V|ANKRD44_ENST00000450567.1_Silent_p.V95V|ANKRD44_ENST00000282272.8_Silent_p.V112V|ANKRD44_ENST00000409919.1_Silent_p.V120V	p.V95V			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	361	-			120					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.285C>T																																																																																					0.552	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		41	138	0	0	0	0.007835	0	41	138				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	70	0	0	0	0.004482	0	7	70				
CLEC12A	160364	broad.mit.edu	37	12	10124195	10124195	+	5'UTR	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:10124195A>C	ENST00000304361.4	+	0	182				CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000350667.4_5'Flank|CLEC12A_ENST00000355690.4_Silent_p.S10S	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATATTCATCAATGTCTGAAG	0.323																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000355690.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(28-30)tcA>tcC		C-type lectin domain family 12, member A							91.0	96.0	94.0					12																	10124195		2203	4298	6501	SO:0001623	5_prime_UTR_variant	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10124195A>C	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.-1A>C	12.37:g.10124195A>C						CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000304361.4_5'UTR	p.S10S	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN			2	61	+			0					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	ENST00000304361.4	37	c.30A>C	CCDS8608.1																																																																																				0.323	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		28	38	0	0	0	0.008361	0	28	38				
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Intron	INS	-	-	C	rs371489550		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:1688587_1688588insC	ENST00000341426.5	-	4	615				NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000344463.4_Frame_Shift_Ins_p.G246fs	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(736-738)ggcfs		NAD kinase			,,,	115,2703		27,61,1321					,,,	-3.7	0.0			2	609,5211		124,361,2425	no	intron,intron,frameshift,intron	NADK	NM_023018.4,NM_001198995.1,NM_001198994.1,NM_001198993.1	,,,	151,422,3746	A1A1,A1R,RR		10.4639,4.0809,8.3816	,,,	,,,		724,7914				SO:0001627	intron_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688587_1688588insC	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+31->G	1.37:g.1688591_1688591dupC						NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron	p.G246fs			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	6	958_959	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	131					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Frame_Shift_Ins	INS	ENST00000341426.5	37	c.737_738insG	CCDS30565.1																																																																																				0.634	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		2	4						2	4	---	---	---	---
RET	5979	broad.mit.edu	37	10	43609084	43609086	+	In_Frame_Del	DEL	GAG	GAG	-	rs377767399|rs121913313		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:43609084_43609086delGAG	ENST00000355710.3	+	10	2072_2074	c.1840_1842delGAG	c.(1840-1842)gagdel	p.E616del	RET_ENST00000340058.5_In_Frame_Del_p.E616del	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F612_C620del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGCTTCCCTGAGGAGGAGAAGT	0.64		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	1	Deletion - In frame(1)	p.F612_C620del(1)	thyroid(1)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1840-1842)del		ret proto-oncogene	Sunitinib(DB01268)																																			SO:0001651	inframe_deletion	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43609084_43609086delGAG	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1840_1842delGAG	10.37:g.43609090_43609092delGAG	ENSP00000347942:p.Glu616del					RET_ENST00000340058.5_In_Frame_Del_p.E616del	p.E616del	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			10	2072_2074	+		Ovarian(717;0.0423)	616					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	In_Frame_Del	DEL	ENST00000355710.3	37	c.1840_1842delGAG	CCDS7200.1																																																																																				0.640	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		10	21						10	21	---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94708041	94708043	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:94708041_94708043delGAA	ENST00000260762.6	+	14	1335_1337	c.1321_1323delGAA	c.(1321-1323)gaadel	p.E442del	EXOC6_ENST00000371552.4_In_Frame_Del_p.E437del|EXOC6_ENST00000443748.2_In_Frame_Del_p.E339del|EXOC6_ENST00000371547.4_In_Frame_Del_p.E458del	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	442					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGACATTTTTGAAGAAGATAATT	0.325																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1306-1308)del		exocyst complex component 6																																				SO:0001651	inframe_deletion	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94708041_94708043delGAA	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1321_1323delGAA	10.37:g.94708044_94708046delGAA	ENSP00000260762:p.Glu442del					EXOC6_ENST00000260762.6_In_Frame_Del_p.E442del|EXOC6_ENST00000443748.2_In_Frame_Del_p.E339del|EXOC6_ENST00000371547.4_In_Frame_Del_p.E458del	p.E437del	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			14	1335_1337	+		Colorectal(252;0.123)	442					E9PHI3|Q5VXH8|Q9NZ24	In_Frame_Del	DEL	ENST00000260762.6	37	c.1306_1308delGAA	CCDS7424.2																																																																																				0.325	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		7	41						7	41	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71067484	71067504	+	5'Flank	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-	rs150061450|rs554135173	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000256379.5	-	0	0				MED6_ENST00000554963.1_5'Flank|MED6_ENST00000430055.2_5'Flank|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000556044.1_5'Flank|MED6_ENST00000440435.2_5'Flank	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6						gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.71														1000	0.199681	0.1384	0.0994	5008	,	,		5273	0.4812		0.1054	False		,,,				2504	0.1605					ENST00000553982.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252		14.37:g.71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	Exception_encountered													0	294	-								B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	RNA	DEL	ENST00000256379.5	37		CCDS9805.1																																																																																				0.710	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		4	2						4	2	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	32						7	32	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76471394	76471407	+	Frame_Shift_Del	DEL	GTGATCTGAAACAC	GTGATCTGAAACAC	-	rs375075171|rs538974855	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76471394_76471407delGTGATCTGAAACAC	ENST00000585328.1	-	54	8573_8586	c.8449_8462delGTGTTTCAGATCAC	c.(8449-8463)gtgtttcagatcaccfs	p.VFQIT2817fs	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.VFQIT2808fs	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2808	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTTGAGGGTGATCTGAAACACGTCAAGCCCG	0.584																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8422-8436)cfs		dynein, axonemal, heavy chain 17																																				SO:0001589	frameshift_variant	8632							g.chr17:76471394_76471407delGTGATCTGAAACAC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8449_8462delGTGTTTCAGATCAC	17.37:g.76471394_76471407delGTGATCTGAAACAC	ENSP00000465516:p.Val2817fs					DNAH17_ENST00000585328.1_Frame_Shift_Del_p.VFQIT2817fs|DNAH17_ENST00000586052.1_5'UTR	p.VFQIT2808fs					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8546_8559	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37	c.8422_8435delGTGTTTCAGATCAC																																																																																					0.584	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	105						7	105	---	---	---	---
