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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
SEC31B	25956	broad.mit.edu	37	10	102257434	102257434	+	Silent	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:102257434G>A	ENST00000370345.3	-	16	2077	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	p.P660P(1)		36		Colorectal(252;0.117)			CACAGAGCTCGGGAAATTTCT	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000370345.3	0	1	hg19	CCDS7495.1																																																																																				TCGA-IB-AAUT-01A-11D-A377-08	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	0	0	0	5	284	0	59	0	2.297087e-02	0	11	0	59	2		0	0	0	0	0	2	1	0.934585	5	279	0	58	2		0	0	0	0	59	2	-2.541933	1	1	121412	1	35	1	1	2	3	2.000189	0	0.110000	2.010000	0.115352	0.360000	0.130000	1.000000	0.310000	0.423362	0.360000	0	0.220000	0.590000
ANK3	288	broad.mit.edu	37	10	61868601	61868601	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:61868601C>T	ENST00000280772.2	-	27	3351	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					AAAAATTGTGCCCCTGCAGGA	0.453000																								0							SO:0001583	missense			ENST00000280772.2	0	1	hg19	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	26.800000	4.768023	0.900200	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	6.040000	6.040000	0.980380	ZU5 (3);	0.000000	0.41938	D	0.000798	T	0.58192	0.2105	L	0.39020	1.185	0.807220	D	1.000000	P;D;D;D;D;B;D	0.89917	0.712;0.999;1.0;1.0;1.0;0.286;0.997	P;D;D;D;D;B;D	0.91635	0.592;0.999;0.999;0.996;0.983;0.194;0.957	T	0.51631	-0.8681	10	0.42905	T	0.14	.	20.594800	0.994390	0.0:1.0:0.0:0.0	.	1055;188;587;1048;1054;289;188	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	T	1054;1048;188;188;1055;1034;289;689;689;187;587;179	ENSP00000280772:A1054T;ENSP00000362933:A1048T;ENSP00000347436:A188T;ENSP00000425236:A1055T;ENSP00000362921:A179T	ENSP00000280772:A1054T	A	-	1	0	ANK3	61538607	1	0.714170	1.000000	0.803570	0.998000	0.957120	7.818000	0.864160	2.873000	0.985350	0.563000	0.778840	GCA		TCGA-IB-AAUT-01A-11D-A377-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	0	4	277	0	48	0	9.413395e-03	0	8	0	48	2		0	0	0	0	0	2	1	0.889369	4	275	0	48	2		0	0	0	0	48	2	-2.728009	1	1	121410	2	31	1	1	2	3	2.000189	0	0.110000	2.010000	0.115352	0.300000	0.090000	1.000000	0.250000	0.375303	0.300000	0	0.180000	0.530000
GRID1	2894	broad.mit.edu	37	10	87487669	87487669	+	Silent	SNP	G	G	A	rs149876378		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:87487669G>A	ENST00000327946.7	-	10	1561	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y	GRID1_ENST00000536331.1_Silent_p.Y63Y	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	p.Y492Y(1)		106					GCTGGTGACCGTACCTGCCAT	0.557000										Multiple Myeloma(13;0.14)														1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000327946.7	0	1	hg19	CCDS31236.1																																																																																				TCGA-IB-AAUT-01A-11D-A377-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	0	0	0	6	692	0	90	0	6.918229e-03	0	12	0	90	2		0	0	0	0	0	2	1	0.963968	6	685	0	88	2		0	0	0	0	90	2	-2.069898	0	1	121412	4	42	1	1	2	3	2.000189	0	0.110000	2.010000	0.115352	0.170000	0.060000	1.000000	0.150000	0.253710	0.170000	0	0.110000	0.280000
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:108546412G>A	ENST00000322536.3	+	3	466	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000526794.1_Missense_Mutation_p.A113T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	p.A113T(1)		27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)			ACTTGGAGCGGCCAAAACTGG	0.438000			T	NUP98	AML*										Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	1	Substitution - Missense(1)						SO:0001583	missense			ENST00000322536.3	0	1	hg19	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	36.000000	5.649371	0.967140	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.22539	1.95;1.95	5.820000	5.820000	0.927950	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046541	0.85682	N	0.000000	T	0.53302	0.1788	H	0.95679	3.705	0.807220	D	1.000000	P;P	0.48764	0.858;0.915	P;P	0.51055	0.657;0.657	T	0.67921	-0.5545	10	0.87932	D	0	-4.8073	20.156600	0.981150	0.0:0.0:1.0:0.0	.	113;113	Q13206;E9PIF2	DDX10_HUMAN;.	T	113	ENSP00000314348:A113T;ENSP00000432032:A113T	ENSP00000314348:A113T	A	+	1	0	DDX10	108051622	1	0.714170	1.000000	0.803570	0.895000	0.522560	9.413000	0.973510	2.779000	0.956120	0.603000	0.832160	GCC		TCGA-IB-AAUT-01A-11D-A377-08	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	0	0	0	5	621	0	90	0	4.458731e-03	0	10	0	90	2		0	0	0	0	0	2	1	0.936173	5	615	0	90	2		0	0	0	0	90	2	-1.720911	0	1	0	0		1	0	0	0	1.975309	0	0.110000	2.010000	0.094055	0.150000	0.050000	0.310000	0.140000	0.168033	0.150000	0	0.090000	0.230000
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:119020905G>A	ENST00000449422.2	+	2	418	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000307417.3_Missense_Mutation_p.R77H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4			44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)			CCCTGCTGGCGCAAAAGGGGT	0.622000																								0							SO:0001583	missense			ENST00000449422.2	0	1	hg19	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	23.000000	4.366993	0.824630	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.340000	4.340000	0.519310	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.35487	1.065	0.536880	D	0.999975	D	0.67145	0.996	P	0.47470	0.548	T	0.06807	-1.0806	10	0.51188	T	0.08	-22.516	17.100300	0.866470	0.0:0.0:1.0:0.0	.	77	Q9H172	ABCG4_HUMAN	H	77	ENSP00000304111:R77H;ENSP00000431915:R77H;ENSP00000406874:R77H;ENSP00000434318:R77H	ENSP00000304111:R77H	R	+	2	0	ABCG4	118526115	1	0.714170	1.000000	0.803570	0.998000	0.957120	5.502000	0.669560	2.272000	0.757460	0.644000	0.839320	CGC		TCGA-IB-AAUT-01A-11D-A377-08	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	0	0	0	7	638	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.980026	7	632	0	68	2		0	0	0	0	68	2	-1.879402	0	1	0	0		1	0	0	0	1.975309	0	0.110000	2.010000	0.094055	0.200000	0.080000	0.380000	0.190000	0.217564	0.200000	0	0.130000	0.290000
SLC17A8	246213	broad.mit.edu	37	12	100795569	100795569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:100795569G>A	ENST00000323346.5	+	6	1004	c.691G>A	c.(691-693)Gca>Aca	p.A231T	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8			44					CTATGCAGGGGCAGTGGTTGC	0.443000																								0							SO:0001583	missense			ENST00000323346.5	0	1	hg19	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.790000	3.219505	0.585600	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.58060	0.36;0.36	5.450000	5.450000	0.798790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	N	0.20986	0.625	0.807220	D	1.000000	D;D	0.67145	0.996;0.984	D;D	0.72625	0.978;0.939	T	0.44298	-0.9337	10	0.02654	T	1	.	19.661000	0.958710	0.0:0.0:1.0:0.0	.	231;231	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	T	231	ENSP00000316909:A231T;ENSP00000376715:A231T	ENSP00000316909:A231T	A	+	1	0	SLC17A8	99319700	1	0.714170	0.978000	0.431390	0.427000	0.315640	9.796000	0.991030	2.714000	0.928070	0.563000	0.778840	GCA		TCGA-IB-AAUT-01A-11D-A377-08	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	0	0	0	7	595	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.979994	7	589	0	68	2		0	0	0	0	71	2	-2.559966	1	1	0	0		1	0	1	1	1.993607	0	0.110000	2.010000	0.103591	0.220000	0.090000	0.410000	0.210000	0.235665	0.220000	0	0.140000	0.310000
TMEM106C	79022	broad.mit.edu	37	12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	rs146483924		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:48359115C>T	ENST00000429772.2	+	3	351	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	p.R80C(1)		14		Acute lymphoblastic leukemia(13;0.11)			TCAGAGATTGCGCCCTCAGCG	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000429772.2	0	1	hg19	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	28.500000	4.928501	0.923890	0.0	1.16E-4	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.370000	4.370000	0.524810	.	0.156867	0.48767	D	0.000163	T	0.51975	0.1706	M	0.65975	2.015	0.807220	D	1.000000	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.55976	-0.8055	10	0.87932	D	0	0.1116	16.732800	0.854390	0.0:1.0:0.0:0.0	.	80;80	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	80	ENSP00000256686:R80C;ENSP00000446657:R80C;ENSP00000449737:R80C;ENSP00000400471:R80C;ENSP00000402705:R80C	ENSP00000256686:R80C	R	+	1	0	TMEM106C	46645382	1	0.714170	0.999000	0.593770	0.993000	0.825480	5.039000	0.641850	2.727000	0.933920	0.655000	0.942530	CGC		TCGA-IB-AAUT-01A-11D-A377-08	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	0	0	0	5	465	1	70	0	1.643590e-03	0	152	1	70	9		0	0	0	0	0	2	0	0.000923	5	457	1	70	21		0	0	0	1	70	2	-1.994015	0	1	121412	14	43	1	0	1	1	1.993607	0	0.110000	2.010000	0.103591	0.200000	0.070000	0.420000	0.190000	0.225255	0.200000	0	0.130000	0.310000
CHD4	1108	broad.mit.edu	37	12	6710455	6710455	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:6710455C>T	ENST00000357008.2	-	6	962	c.799G>A	c.(799-801)Ggt>Agt	p.G267S	CHD4_ENST00000544484.1_Splice_Site_p.G264S|CHD4_ENST00000309577.6_Splice_Site_p.G267S|CHD4_ENST00000544040.1_Splice_Site_p.G260S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4			2					CCCATTTCACCTTTGCCCTCC	0.557000													Colon(32;586 792 4568 16848 45314)											0							SO:0001630	splice_region_variant			ENST00000357008.2	0	1	hg19	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.400000	4.527638	0.857060	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90069	-2.59;-2.61;-2.59;-2.61;0.5	5.730000	5.730000	0.898150	.	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82323	2.585	0.807220	D	1.000000	D;D;P	0.89917	1.0;1.0;0.61	D;D;B	0.91635	0.999;0.999;0.256	D	0.94514	0.7721	9	.	.	.	-5.4851	16.861100	0.860180	0.0:0.872:0.128:0.0	.	267;267;260	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	264;260;267;267;241;267	ENSP00000440392:G264S;ENSP00000440542:G260S;ENSP00000312419:G267S;ENSP00000349508:G267S;ENSP00000437506:G267S	.	G	-	1	0	CHD4	6580716	1	0.714170	1.000000	0.803570	0.979000	0.700020	3.612000	0.541420	2.705000	0.923880	0.555000	0.697020	GGT		TCGA-IB-AAUT-01A-11D-A377-08	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	22	862	0	172	0	4.903196e-01	1	63	0	172	2	1	9.983159e-01	12	378	0	364	2	1	0.999998	21	843	0	172	2		0	0	0	0	172	2	-2.442273	0	1	0	0		1	1	2	3	2.044309	0	0.110000	2.010000	0.124920	0.490000	0.300000	1.000000	0.460000	0.584152	0.490000	0	0.380000	1.000000
LAMP1	3916	broad.mit.edu	37	13	113964111	113964111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:113964111G>A	ENST00000332556.4	+	3	531	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	p.V113I(1)		16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		ACGTTACAGCGTCCAGCTCAT	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000332556.4	0	1	hg19	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	15.430000	2.831290	0.508450	0.0	1.21E-4	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35973	1.28;1.46	5.290000	5.290000	0.746850	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.52573	1.65	0.314290	N	0.673310	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54146	-0.8337	10	0.29301	T	0.29	-52.2082	14.464900	0.674770	0.0:0.0:1.0:0.0	.	113;113	B4DWL3;P11279	.;LAMP1_HUMAN	I	113	ENSP00000333298:V113I;ENSP00000415354:V113I	ENSP00000333298:V113I	V	+	1	0	LAMP1	113012112	9.910000e-01	0.366380	0.335000	0.255080	0.087000	0.180530	4.848000	0.628740	2.473000	0.835330	0.557000	0.710580	GTC		TCGA-IB-AAUT-01A-11D-A377-08	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2	0	0	0	11	757	0	102	1	9.793033e-01	6	445	0	102	2		0	0	0	0	0	2	1	0.998253	11	750	0	102	2		0	0	0	0	102	2	-2.843333	1	1	120888	4	41	1	0	1	1	1.994124	0	0.110000	2.010000	0.103591	0.260000	0.130000	0.440000	0.260000	0.278160	0.260000	0	0.190000	0.350000
PCNX	22990	broad.mit.edu	37	14	71429026	71429026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:71429026C>T	ENST00000304743.2	+	3	892	c.446C>T	c.(445-447)gCc>gTc	p.A149V	PCNX_ENST00000439984.3_Missense_Mutation_p.A149V|PCNX_ENST00000238570.5_Missense_Mutation_p.A149V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		AATTCTTATGCCGGTCTAGAT	0.478000																								0							SO:0001583	missense			ENST00000304743.2	0	1	hg19	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	13.720000	2.320630	0.410960	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.42513	0.97;0.97;0.97	5.290000	5.290000	0.746850	.	0.213882	0.41001	D	0.000977	T	0.28333	0.0700	N	0.08118	0	0.433550	D	0.995420	P;P;B	0.40970	0.734;0.734;0.208	B;B;B	0.40165	0.321;0.321;0.047	T	0.08046	-1.0741	10	0.25751	T	0.34	.	19.288300	0.940870	0.0:1.0:0.0:0.0	.	149;149;149	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	V	149	ENSP00000304192:A149V;ENSP00000238570:A149V;ENSP00000396617:A149V	ENSP00000238570:A149V	A	+	2	0	PCNX	70498779	1	0.714170	1.000000	0.803570	0.711000	0.409760	3.448000	0.529430	2.646000	0.897960	0.591000	0.815410	GCC		TCGA-IB-AAUT-01A-11D-A377-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	0	6	622	0	87	0	9.905619e-03	0	13	0	87	2		0	0	0	0	0	2	1	0.963140	6	611	0	87	2		0	0	0	0	87	2	-1.882139	0	1	0	0		1	1	2	3	2.002115	0	0.110000	2.010000	0.115835	0.190000	0.070000	1.000000	0.170000	0.278124	0.190000	0	0.120000	0.320000
GPR65	8477	broad.mit.edu	37	14	88477517	88477517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:88477517C>T	ENST00000267549.3	+	2	884	c.326C>T	c.(325-327)gCc>gTc	p.A109V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	p.A109V(1)		16					ACCTGCATTGCCGTTGATCGG	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000267549.3	0	1	hg19	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	17.090000	3.300635	0.601950	.	.	ENSG00000140030	ENST00000267549	T	0.77620	-1.11	5.820000	5.820000	0.927950	GPCR, rhodopsin-like superfamily (1);	0.229512	0.30584	N	0.009304	D	0.85961	0.5819	M	0.76170	2.325	0.536880	D	0.999978	D	0.54601	0.967	P	0.54759	0.76	D	0.86921	0.2067	10	0.87932	D	0	.	20.096600	0.978490	0.0:1.0:0.0:0.0	.	109	Q8IYL9	PSYR_HUMAN	V	109	ENSP00000267549:A109V	ENSP00000267549:A109V	A	+	2	0	GPR65	87547270	3.900000e-02	0.199470	0.086000	0.206700	0.281000	0.269580	3.193000	0.509970	2.751000	0.943900	0.650000	0.862430	GCC		TCGA-IB-AAUT-01A-11D-A377-08	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4	0	0	0	8	1048	0	243	0	1.629494e-03	0	7	0	243	2		0	0	0	0	0	2	1	0.988766	9	1033	0	243	2		0	0	0	0	243	2	-2.306438	0	1	0	0		1	1	2	3	2.002115	0	0.110000	2.010000	0.115835	0.150000	0.060000	1.000000	0.130000	0.236279	0.150000	0	0.100000	0.240000
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration			5				Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607000																								0							SO:0001583	missense			ENST00000248114.6	0	1	hg19	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.920000	2.680098	0.478860	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.430000	1.060000	0.202240	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.433040	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.627100	0.228370	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	1.350000e-01	0.224990	0.986000	0.454190	0.823000	0.465620	0.436000	0.215260	0.420000	0.259540	0.511000	0.500340	CGC		TCGA-IB-AAUT-01A-11D-A377-08	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	0	0	0	5	427	0	48	0	2.998877e-01	1	79	0	48	2		0	0	0	0	0	2	1	0.935167	5	419	0	48	2		0	0	0	0	48	2	-2.375604	0	1	121396	15	46	1	0	1	1	1.990535	0	0.110000	2.010000	0.103094	0.220000	0.080000	0.450000	0.210000	0.244415	0.220000	0	0.140000	0.340000
FOXN1	8456	broad.mit.edu	37	17	26861380	26861380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:26861380G>A	ENST00000226247.2	+	6	988	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	p.R320Q(1)		19	Lung NSC(42;0.00431)				AATTCTGTCCGGCACAACCTA	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000226247.2	0	1	hg19	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	36.000000	5.679260	0.967740	.	.	ENSG00000109101	ENST00000226247	D	0.98060	-4.69	5.730000	5.730000	0.898150	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99225	4.475	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	19.885300	0.969100	0.0:0.0:1.0:0.0	.	320	O15353	FOXN1_HUMAN	Q	320	ENSP00000226247:R320Q	ENSP00000226247:R320Q	R	+	2	0	FOXN1	23885507	1	0.714170	1.000000	0.803570	0.981000	0.711380	9.869000	0.998100	2.701000	0.922440	0.655000	0.942530	CGG		TCGA-IB-AAUT-01A-11D-A377-08	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1	0	0	0	6	380	0	47	0	0	0	1	0	47	2		0	0	0	0	0	2	1	0.963538	6	374	0	47	2		0	0	0	0	47	2	-2.767441	1	1	0	0		1	1	2	3	2.004325	0	0.110000	2.010000	0.116318	0.320000	0.120000	1.000000	0.280000	0.394351	0.320000	0	0.200000	0.530000
DHRS13	147015	broad.mit.edu	37	17	27228119	27228119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:27228119G>A	ENST00000378895.4	-	4	697	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.R141W	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13			9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		AGCTCCTGCCGCCAGCCCACC	0.632000																								0							SO:0001583	missense			ENST00000378895.4	0	1	hg19	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	18.060000	3.538454	0.650850	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.89617	-2.54;-2.54;-2.54	5.180000	4.150000	0.487050	NAD(P)-binding domain (1);	1.760290	0.02250	N	0.066486	D	0.85531	0.5718	L	0.40543	1.245	0.243420	N	0.994955	D;D	0.62365	0.991;0.964	B;B	0.43123	0.409;0.232	T	0.75042	-0.3457	10	0.51188	T	0.08	.	5.268800	0.156130	0.0981:0.0:0.5511:0.3509	.	110;191	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	191;141;110	ENSP00000368173:R191W;ENSP00000378361:R141W;ENSP00000412826:R110W	ENSP00000368173:R191W	R	-	1	2	DHRS13	24252245	9.940000e-01	0.377170	0.968000	0.411970	0.978000	0.694770	2.452000	0.449610	2.406000	0.817540	0.462000	0.415740	CGG		TCGA-IB-AAUT-01A-11D-A377-08	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	0	0	0	5	417	0	63	0	1.112826e-01	0	39	0	63	2		0	0	0	0	0	2	1	0.936319	5	413	0	63	2		0	0	0	0	63	2	-2.521009	1	1	0	0		1	1	2	3	2.004325	0	0.110000	2.010000	0.116318	0.250000	0.090000	1.000000	0.210000	0.332180	0.250000	0	0.150000	0.430000
KCNH4	23415	broad.mit.edu	37	17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			GACGGTGACCGCAACGTAGAA	0.602000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	0	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	36.000000	5.891215	0.970740	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.450000	5.450000	0.798790	.	0.000000	0.40554	N	0.001070	D	0.98454	0.9485	M	0.88450	2.955	0.807220	D	1.000000	D	0.67145	0.996	P	0.58970	0.849	D	0.99170	1.0864	10	0.87932	D	0	.	19.471100	0.949630	0.0:0.0:1.0:0.0	.	241	Q9UQ05	KCNH4_HUMAN	V	241	ENSP00000264661:A241V	ENSP00000264661:A241V	A	-	2	0	KCNH4	37581705	1	0.714170	1.000000	0.803570	0.999000	0.989320	9.611000	0.983420	2.840000	0.979140	0.655000	0.942530	GCG		TCGA-IB-AAUT-01A-11D-A377-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	0	0	5	492	1	80		0	0	0	1	80	2		0	0	0	0	0	2	0	0.001474	5	482	1	78	20		0	0	0	1	80	2	-2.177124	0	1	0	0		1	1	2	3	2.004325	0	0.110000	2.010000	0.116318	0.210000	0.070000	1.000000	0.190000	0.298453	0.210000	0	0.130000	0.370000
CACNA1G	8913	broad.mit.edu	37	17	48650204	48650204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:48650204G>A	ENST00000359106.5	+	6	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCCTGGATCGCCATCTTCCA	0.612000																								0							SO:0001583	missense			ENST00000359106.5	0	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	35.000000	5.424914	0.961310	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.820000	5.820000	0.927950	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	L	0.31664	0.95	0.807220	D	1.000000	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.993;1.0;1.0;0.998;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D	0.97110	0.997;0.999;1.0;0.998;1.0;0.999;0.998;1.0;0.998;0.947;1.0;0.999;1.0;1.0;0.998;0.998;0.958;0.999;1.0;0.996;0.861;1.0;0.994;0.961;0.906;0.929	D	0.98459	1.0595	10	0.87932	D	0	.	20.085200	0.977970	0.0:0.0:1.0:0.0	.	346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	T	346	ENSP00000353990:A346T;ENSP00000339302:A346T;ENSP00000392390:A346T;ENSP00000347078:A346T;ENSP00000409759:A346T;ENSP00000425522:A346T;ENSP00000426261:A346T;ENSP00000425451:A346T;ENSP00000422407:A346T;ENSP00000426814:A346T;ENSP00000427238:A346T;ENSP00000423112:A346T;ENSP00000420918:A346T;ENSP00000426172:A346T;ENSP00000423045:A346T;ENSP00000427173:A346T;ENSP00000426098:A346T;ENSP00000425698:A346T;ENSP00000426232:A346T;ENSP00000423317:A346T;ENSP00000350979:A346T;ENSP00000352011:A346T;ENSP00000414388:A346T;ENSP00000423155:A346T;ENSP00000422268:A346T;ENSP00000421518:A346T	ENSP00000339302:A346T	A	+	1	0	CACNA1G	46005203	1	0.714170	0.998000	0.565050	0.997000	0.918780	9.408000	0.973270	2.756000	0.946170	0.561000	0.740990	GCC		TCGA-IB-AAUT-01A-11D-A377-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	0	0	5	256	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.936869	5	254	0	30	2		0	0	0	0	30	2	-3.141457	1	1	120900	1	29	1	0	1	1	1.994069	0	0.110000	2.010000	0.103591	0.370000	0.140000	0.730000	0.340000	0.398045	0.370000	0	0.230000	0.550000
DNAH2	146754	broad.mit.edu	37	17	7734509	7734509	+	Silent	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2			189		all_cancers(10;4.66e-07)|Prostate(122;0.081)			AGGCCTTTGGCCAGCACCCCA	0.527000																								0							SO:0001819	synonymous_variant			ENST00000572933.1	0	1	hg19	CCDS32551.1																																																																																				TCGA-IB-AAUT-01A-11D-A377-08	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	0	9	1188	0	161	0	0	0	1	0	161	2		0	0	0	0	0	2	1	0.993981	9	1178	0	159	2		0	0	0	0	161	2	-1.880188	0	1	0	0		1	1	2	3	2.004325	0	0.110000	2.010000	0.116318	0.140000	0.060000	1.000000	0.130000	0.240170	0.140000	0	0.100000	0.230000
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	p.R120*(1)		29					CAGTGGGGATCGATGGAAGGT	0.562000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000331105.2	0	1	hg19	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.180000	2.158827	0.381190	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.250000	0.388000	0.162640	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.229100	0.039920	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0	0.058580	0.189000	0.232520	0.189000	0.235160	-0.842000	0.043540	0.413000	0.257590	-0.335000	0.082310	CGA		TCGA-IB-AAUT-01A-11D-A377-08	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2	0	0	0	7	495	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	0.979898	7	489	0	84	2		0	0	0	0	84	2	-2.694996	1	1	0	0		1	1	2	3	2.013016	0	0.110000	2.010000	0.118244	0.290000	0.120000	1.000000	0.260000	0.381463	0.290000	0	0.190000	0.500000
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6			36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			TCTGAATGGCGTAAAGGTGCC	0.552000																								0							SO:0001583	missense			ENST00000346436.6	0	1	hg19	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.130000	3.555826	0.654250	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.970000	5.970000	0.969550	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.584320	D	0.999990	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.579800	0.879630	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1	0.714170	0.979000	0.433730	0.847000	0.481620	9.459000	0.976380	2.828000	0.974740	0.655000	0.942530	GTA		TCGA-IB-AAUT-01A-11D-A377-08	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	0	0	0	5	359	0	46	0	3.074063e-02	0	16	0	46	2		0	0	0	0	0	2	1	0.937048	5	357	0	46	2		0	0	0	0	46	2	-2.923862	1	1	121412	4	38	1	1	2	3	2.010080	0	0.110000	2.010000	0.117282	0.290000	0.100000	1.000000	0.250000	0.378140	0.290000	0	0.180000	0.520000
USH2A	7399	broad.mit.edu	37	1	216011345	216011345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:216011345C>T	ENST00000307340.3	-	47	9745	c.9359G>A	c.(9358-9360)gGc>gAc	p.G3120D	USH2A_ENST00000366943.2_Missense_Mutation_p.G3120D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					TGAAGTGATGCCACGAATTGT	0.388000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	0	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.050000	-1.254532	0.014570	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.010000	-2.380000	0.066220	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.448360	0.04862	N	0.444315	T	0.29190	0.0726	N	0.22421	0.69	0.093100	N	1.000000	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.12103	T	0.63	.	7.078600	0.252190	0.1833:0.544:0.0:0.2727	.	3120	O75445	USH2A_HUMAN	D	3120	ENSP00000305941:G3120D;ENSP00000355910:G3120D	ENSP00000305941:G3120D	G	-	2	0	USH2A	214077968	0	0.058580	0.006000	0.133840	0.043000	0.139390	0.059000	0.143220	-0.217000	0.100330	-0.302000	0.093040	GGC		TCGA-IB-AAUT-01A-11D-A377-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	0	0	8	568	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	0.989220	8	565	0	76	2		0	0	0	0	76	2	-2.176526	0	1	0	0		1	1	2	3	2.033065	0	0.110000	2.010000	0.122548	0.290000	0.120000	1.000000	0.250000	0.415644	0.290000	0	0.190000	1.000000
EPB41	2035	broad.mit.edu	37	1	29365900	29365900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:29365900G>A	ENST00000343067.4	+	11	1725	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	EPB41_ENST00000398863.2_Missense_Mutation_p.R533H|EPB41_ENST00000373797.1_Missense_Mutation_p.R533H|EPB41_ENST00000349460.4_Missense_Mutation_p.R324H|EPB41_ENST00000356093.2_Missense_Mutation_p.R533H|EPB41_ENST00000347529.3_Missense_Mutation_p.R498H|EPB41_ENST00000373798.1_Missense_Mutation_p.R533H|EPB41_ENST00000373800.3_Missense_Mutation_p.R324H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1			14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)			CACTTCGAGCGTACAGCAAGT	0.463000																								0							SO:0001583	missense			ENST00000343067.4	0	1	hg19	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	33.000000	5.271858	0.954290	0.0	1.16E-4	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.690000	4.770000	0.609230	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.97958	0.9328	M	0.84082	2.675	0.807220	D	1.000000	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.997;0.998;0.998;0.997;0.995;0.993	D	0.98254	1.0495	10	0.87932	D	0	.	14.181200	0.655770	0.0731:0.0:0.9269:0.0	.	427;533;533;533;533;533;550;498;324;324	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	H	550;533;533;533;427;533;324;324;498;533;533	ENSP00000345259:R533H;ENSP00000348397:R533H;ENSP00000381839:R533H;ENSP00000317597:R324H;ENSP00000362906:R324H;ENSP00000290100:R498H;ENSP00000362904:R533H;ENSP00000362903:R533H	ENSP00000345259:R533H	R	+	2	0	EPB41	29238487	1	0.714170	1.000000	0.803570	0.992000	0.810270	8.013000	0.886550	2.687000	0.915940	0.650000	0.862430	CGT		TCGA-IB-AAUT-01A-11D-A377-08	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	0	0	5	415	1	59	0	1.672003e-03	0	15	1	59	3		0	0	0	0	0	2	0	0.000523	5	407	1	59	22		0	0	0	1	59	2	-2.800977	1	1	121412	3	37	1	1	2	3	2.006758	0	0.110000	2.010000	0.116801	0.250000	0.090000	1.000000	0.210000	0.338874	0.250000	0	0.150000	0.440000
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	88	Substitution - Missense(88)						SO:0001583	missense			ENST00000371085.3	1	1	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.430570	0.961500	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.530000	5.530000	0.826870	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.460600	0.949150	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1	0.714170	0.963000	0.404240	0.936000	0.576290	9.291000	0.960700	2.596000	0.877370	0.563000	0.778840	CGT		TCGA-IB-AAUT-01A-11D-A377-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	0	15	330	0	102	1	1	95	2663	0	102	2	1	9.999953e-01	23	483	0	457	2	1	0.999866	15	325	0	100	2		0	0	0	0	102	2	-2.728346	1	1	121412	10	32	1	1	2	3	2.017628	0	0.110000	2.010000	0.119204	0.850000	0.480000	1.000000	1.000000	0.832095	0.850000	1	0.640000	1.000000
SYCP2	10388	broad.mit.edu	37	20	58443596	58443596	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:58443596C>G	ENST00000357552.3	-	38	4085	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2			53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		TATATATATTCTTTTGCGACT	0.323000																								0							SO:0001583	missense			ENST00000357552.3	0	1	hg19	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	14.670000	2.605911	0.465270	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.43294	0.95;0.95	5.770000	4.830000	0.623500	.	0.000000	0.53938	D	0.000049	T	0.60261	0.2255	M	0.66939	2.045	0.308630	N	0.733263	D	0.76494	0.999	D	0.74023	0.982	T	0.65668	-0.6112	10	0.59425	D	0.04	-7.4813	11.830500	0.522930	0.0:0.9185:0.0:0.0815	.	1287	Q9BX26	SYCP2_HUMAN	T	1287	ENSP00000360040:R1287T;ENSP00000350162:R1287T	ENSP00000350162:R1287T	R	-	2	0	SYCP2	57876991	9.850000e-01	0.353260	0.874000	0.342900	0.211000	0.244170	1.642000	0.372070	1.450000	0.477170	0.591000	0.815410	AGA		TCGA-IB-AAUT-01A-11D-A377-08	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	0	0	5	442	0	112	0	2.069475e-04	0	2	0	112	2		0	0	0	0	0	2	1	0.933701	5	432	0	111	2		0	0	0	0	112	2	-4.747903	1	1	0	0		1	1	2	3	2.017628	0	0.110000	2.010000	0.119204	0.240000	0.080000	1.000000	0.200000	0.351777	0.240000	0	0.140000	0.490000
TTN	7273	broad.mit.edu	37	2	179414500	179414500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:179414500G>A	ENST00000591111.1	-	288	87250	c.87026C>T	c.(87025-87027)gCt>gTt	p.A29009V	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28082V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21585V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30650V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21777V|TTN_ENST00000359218.5_Missense_Mutation_p.A21710V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GGTTATGGGAGCACAACCGTC	0.448000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.600000	4.660003	0.881540	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.320000	5.320000	0.756190	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68952	0.3057	M	0.81802	2.56	0.514820	D	0.999925	P;P;P;P	0.44380	0.581;0.581;0.581;0.834	B;B;B;P	0.50896	0.29;0.29;0.442;0.653	T	0.73652	-0.3915	9	0.87932	D	0	.	19.378600	0.945210	0.0:0.0:1.0:0.0	.	21585;21710;21777;29009	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	28082;21585;21777;21710;21582	ENSP00000343764:A28082V;ENSP00000434586:A21585V;ENSP00000340554:A21777V;ENSP00000352154:A21710V	ENSP00000340554:A21777V	A	-	2	0	TTN	179122746	1	0.714170	1.000000	0.803570	0.935000	0.574600	9.813000	0.992860	2.648000	0.898790	0.563000	0.778840	GCT		TCGA-IB-AAUT-01A-11D-A377-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	5	402	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	0.935859	5	397	0	70	2		0	0	0	0	70	2	-3.016174	1	1	0	0		1	1	2	3	2.002200	0	0.110000	2.010000	0.115835	0.250000	0.090000	1.000000	0.220000	0.334654	0.250000	0	0.160000	0.430000
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2			21					CTATTTCACAGCAATGTGGAC	0.408000																								0							SO:0001583	missense			ENST00000236980.6	0	1	hg19	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	17.770000	3.470894	0.636250	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15372	2.43;2.43;2.43	5.310000	3.490000	0.399570	.	0.429898	0.24048	N	0.042038	T	0.28764	0.0713	L	0.54323	1.7	0.093100	N	1.000000	D;B	0.76494	0.999;0.349	D;B	0.65140	0.932;0.056	T	0.03818	-1.1001	10	0.34782	T	0.22	-3.9259	7.217000	0.259650	0.3732:0.0:0.6268:0.0	.	187;187	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	T	187	ENSP00000236980:A187T;ENSP00000385990:A187T;ENSP00000384929:A187T	ENSP00000236980:A187T	A	+	1	0	FASTKD2	207340221	8.000000e-03	0.168930	1.000000	0.803570	0.996000	0.888480	0.848000	0.277100	1.230000	0.436460	0.561000	0.740990	GCA		TCGA-IB-AAUT-01A-11D-A377-08	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	0	0	0	6	881	0	164	0	2.252563e-02	0	28	0	164	2		0	0	0	0	0	2	1	0.964409	6	876	0	164	2		0	0	0	0	164	2	-2.628881	1	1	0	0		1	1	2	3	2.002200	0	0.110000	2.010000	0.115835	0.130000	0.050000	1.000000	0.130000	0.225718	0.130000	0	0.080000	0.230000
ZNF513	130557	broad.mit.edu	37	2	27600645	27600645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:27600645G>A	ENST00000323703.6	-	4	1591	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513			17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CCTGTGTGCCGCAGCATGTGA	0.582000																								0							SO:0001583	missense			ENST00000323703.6	0	1	hg19	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	11.100000	1.540370	0.275630	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.18502	2.21;2.21	4.770000	3.820000	0.439750	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001058	T	0.40171	0.1106	M	0.70595	2.14	0.397590	D	0.972004	D	0.89917	1.0	D	0.83275	0.996	T	0.40776	-0.9545	10	0.87932	D	0	-7.6818	14.099800	0.650460	0.0:0.0:0.8392:0.1608	.	465	Q8N8E2	ZN513_HUMAN	W	465;403	ENSP00000318373:R465W;ENSP00000384874:R403W	ENSP00000318373:R465W	R	-	1	2	ZNF513	27454149	1	0.714170	1.000000	0.803570	0.113000	0.197640	4.501000	0.603930	2.490000	0.840300	0.655000	0.942530	CGG		TCGA-IB-AAUT-01A-11D-A377-08	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	0	0	0	7	1001	0	148	0	5.080265e-02	1	43	0	148	2		0	0	0	0	0	2	1	0.980045	7	995	0	146	2		0	0	0	0	148	2	-1.976003	0	1	0	0		1	1	2	3	2.002200	0	0.110000	2.010000	0.115835	0.140000	0.050000	1.000000	0.130000	0.226619	0.140000	0	0.090000	0.230000
OTX1	5013	broad.mit.edu	37	2	63280157	63280157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:63280157G>A	ENST00000282549.2	+	3	308	c.32G>A	c.(31-33)gGc>gAc	p.G11D	OTX1_ENST00000366671.3_Missense_Mutation_p.G11D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1			20	Lung NSC(7;0.121)|all_lung(7;0.211)				CCCCCATACGGCATGAACGGG	0.697000																								0							SO:0001583	missense			ENST00000282549.2	0	1	hg19	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	20.400000	3.977675	0.743600	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.91011	-2.77;-2.77	5.500000	5.500000	0.815520	.	0.059634	0.64402	D	0.000003	D	0.93344	0.7878	L	0.56769	1.78	0.584320	D	0.999995	D	0.57257	0.979	P	0.58130	0.833	D	0.93676	0.6994	10	0.66056	D	0.02	.	18.153700	0.896840	0.0:0.0:1.0:0.0	.	11	P32242	OTX1_HUMAN	D	11	ENSP00000355631:G11D;ENSP00000282549:G11D	ENSP00000282549:G11D	G	+	2	0	OTX1	63133661	1	0.714170	0.999000	0.593770	0.997000	0.918780	4.988000	0.638630	2.596000	0.877370	0.561000	0.740990	GGC		TCGA-IB-AAUT-01A-11D-A377-08	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	0	0	0	5	433	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.934411	5	424	0	38	2		0	0	0	0	38	2	-2.182224	0	1	0	0		1	1	2	3	2.002200	0	0.110000	2.010000	0.115835	0.240000	0.080000	1.000000	0.200000	0.318183	0.240000	0	0.140000	0.400000
SEC24B	10427	broad.mit.edu	37	4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:110447472C>T	ENST00000265175.5	+	17	2937	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B			36		Hepatocellular(203;0.217)			GCTGGATTTGCGGTGCAGTTG	0.363000																								0							SO:0001583	missense			ENST00000265175.5	0	1	hg19	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	35.000000	5.421208	0.961110	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77098	-1.07;-1.07;-1.07	5.300000	5.300000	0.749950	Sec23/Sec24 beta-sandwich (1);	0.049795	0.85682	D	0.000000	D	0.84397	0.5463	L	0.46567	1.45	0.807220	D	1.000000	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.66716	0.946;0.942;0.946;0.911;0.946	T	0.82989	-0.0183	10	0.39692	T	0.17	-20.8388	19.348600	0.943740	0.0:1.0:0.0:0.0	.	875;560;991;926;961	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	991;926;961	ENSP00000428564:A991V;ENSP00000382051:A926V;ENSP00000265175:A961V	ENSP00000265175:A961V	A	+	2	0	SEC24B	110666921	1	0.714170	1.000000	0.803570	0.967000	0.649340	7.818000	0.864160	2.644000	0.897100	0.655000	0.942530	GCG		TCGA-IB-AAUT-01A-11D-A377-08	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2	0	0	0	5	683	1	140	0	4.103564e-03	0	63	1	140	4		0	0	0	0	0	2	0	0.007445	5	676	1	140	17		0	0	0	1	140	2	-2.385342	0	1	120812	3	36	1	1	2	3	2.001635	0	0.110000	2.010000	0.115835	0.150000	0.050000	1.000000	0.130000	0.238828	0.150000	0	0.090000	0.260000
TACC3	10460	broad.mit.edu	37	4	1725247	1725247	+	Silent	SNP	G	G	A	rs142473170		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:1725247G>A	ENST00000313288.4	+	2	205	c.99G>A	c.(97-99)tcG>tcA	p.S33S	TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank|TMEM129_ENST00000536901.1_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3			25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		CCGGAAGATCGTCTGTTCTTC	0.448000													Ovarian(120;482 2294 11894 35824)											0							SO:0001819	synonymous_variant			ENST00000313288.4	0	1	hg19	CCDS3352.1																																																																																				TCGA-IB-AAUT-01A-11D-A377-08	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2	0	0	0	5	202	0	48	0	5.684933e-02	0	13	0	48	2		0	0	0	0	0	2	1	0.935888	5	199	0	48	2		0	0	0	0	48	2	-3.243176	1	1	121410	50	46	1	1	2	3	2.001635	0	0.110000	2.010000	0.115835	0.500000	0.180000	1.000000	0.430000	0.551734	0.500000	0	0.310000	0.830000
RHOH	399	broad.mit.edu	37	4	40245187	40245187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:40245187G>A	ENST00000381799.5	+	3	905	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RHOH_ENST00000505618.1_Missense_Mutation_p.G61S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H			12					GGACACAGCCGGCAATGACGC	0.582000																								0							SO:0001583	missense			ENST00000381799.5	0	1	hg19	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	28.300000	4.906906	0.921070	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.650000	5.650000	0.869990	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97023	3.925	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	.	19.712400	0.961000	0.0:0.0:1.0:0.0	.	61	Q15669	RHOH_HUMAN	S	61	ENSP00000425010:G61S;ENSP00000423384:G61S;ENSP00000426439:G61S;ENSP00000371219:G61S	ENSP00000371219:G61S	G	+	1	0	RHOH	39921582	1	0.714170	0.943000	0.381840	0.617000	0.374840	9.476000	0.978230	2.655000	0.902180	0.591000	0.815410	GGC		TCGA-IB-AAUT-01A-11D-A377-08	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	0	0	0	5	254	0	41	0	1.181472e-01	0	25	0	41	2		0	0	0	0	0	2	1	0.936864	5	252	0	39	2		0	0	0	0	41	2	-3.087691	1	1	0	0		1	1	2	3	2.001635	0	0.110000	2.010000	0.115835	0.400000	0.140000	1.000000	0.350000	0.465335	0.400000	0	0.250000	0.670000
TMPRSS11D	9407	broad.mit.edu	37	4	68688126	68688126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:68688126G>A	ENST00000283916.6	-	10	1284	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D			23					GGCTTATCCGGCAGGCCACAC	0.502000																								0							SO:0001583	missense			ENST00000283916.6	0	1	hg19	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	12.910000	2.078916	0.366620	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88896	-2.44;-2.44	5.780000	4.040000	0.470220	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119022	0.38217	N	0.001771	D	0.86049	0.5840	L	0.38733	1.17	0.093100	N	1.000000	P	0.45078	0.85	P	0.44696	0.458	T	0.78797	-0.2063	10	0.59425	D	0.04	.	14.530100	0.679200	0.0:0.4672:0.5328:0.0	.	396	O60235	TM11D_HUMAN	S	396;279	ENSP00000283916:P396S;ENSP00000442045:P279S	ENSP00000283916:P396S	P	-	1	0	TMPRSS11D	68370721	4.000000e-03	0.155600	0.806000	0.323380	0.005000	0.049000	0.481000	0.222600	0.756000	0.330130	0.650000	0.862430	CCG		TCGA-IB-AAUT-01A-11D-A377-08	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	0	0	0	7	815	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.980123	7	809	0	138	2		0	0	0	0	139	2	-2.192850	0	1	0	0		1	1	2	3	2.001635	0	0.110000	2.010000	0.115835	0.170000	0.070000	1.000000	0.150000	0.255680	0.170000	0	0.110000	0.280000
ADAMTS19	171019	broad.mit.edu	37	5	128983576	128983576	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:128983576G>A	ENST00000274487.4	+	12	2118	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19			91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		AGTCGAGAGCGCAAATGTCCT	0.507000																								0							SO:0001583	missense			ENST00000274487.4	0	1	hg19	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.700000	4.663990	0.882510	2.27E-4	0.0	ENSG00000145808	ENST00000274487	T	0.65364	-0.15	4.580000	4.580000	0.566470	.	0.000000	0.64402	D	0.000002	D	0.85613	0.5737	H	0.95043	3.615	0.584320	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89721	0.3919	9	.	.	.	.	18.693000	0.915900	0.0:0.0:1.0:0.0	.	658	Q8TE59	ATS19_HUMAN	H	658	ENSP00000274487:R658H	.	R	+	2	0	ADAMTS19	129011475	1	0.714170	1.000000	0.803570	0.997000	0.918780	7.292000	0.787310	2.831000	0.975270	0.650000	0.862430	CGC		TCGA-IB-AAUT-01A-11D-A377-08	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	0	0	5	605	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	0.934737	5	594	0	73	2		0	0	0	0	74	2	-1.993281	0	1	121412	3	41	1	1	2	3	2.000859	0	0.110000	2.010000	0.115352	0.170000	0.060000	1.000000	0.150000	0.250220	0.170000	0	0.100000	0.290000
PCDHA3	56145	broad.mit.edu	37	5	140181599	140181599	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:140181599G>C	ENST00000522353.2	+	1	817	c.817G>C	c.(817-819)Gta>Cta	p.V273L	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3			95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGATGAAGGAGTAAATAAGGA	0.418000																								0							SO:0001583	missense			ENST00000522353.2	0	1	hg19	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	0.019000	-1.464418	0.010530	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.49432	0.78;0.78	4.790000	-3.240000	0.050940	Cadherin (4);Cadherin-like (1);	0.722810	0.11072	U	0.602758	T	0.20981	0.0505	N	0.11106	0.095	0.093100	N	1.000000	B;B	0.10296	0.003;0.002	B;B	0.17979	0.004;0.02	T	0.24297	-1.0164	10	0.17369	T	0.5	.	5.119000	0.148510	0.5648:0.0:0.1703:0.2649	.	273;273	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	273	ENSP00000429808:V273L;ENSP00000434086:V273L	ENSP00000429808:V273L	V	+	1	0	PCDHA3	140161783	0	0.058580	0.924000	0.367210	0.764000	0.433290	-2.774000	0.007770	-0.298000	0.089210	0.467000	0.429560	GTA		TCGA-IB-AAUT-01A-11D-A377-08	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	0	0	0	7	371	0	79	0	0	0	1	0	79	2		0	0	0	0	0	2	1	0.979900	7	366	0	78	2		0	0	0	0	79	2	-6.971346	1	1	0	0		1	1	2	3	2.000859	0	0.110000	2.010000	0.115352	0.370000	0.160000	1.000000	0.330000	0.432630	0.370000	0	0.240000	0.580000
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215			12					CTGTGGGTCCGCAAATTGCCC	0.597000																								0							SO:0001583	missense			ENST00000342743.5	0	1	hg19	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409000	0.843700	0.169630	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.180000	4.280000	0.508680	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.308560	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.719600	0.402950	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1	0.714170	1.000000	0.803570	0.111000	0.196430	3.258000	0.515070	1.184000	0.429570	-0.258000	0.108200	CGC		TCGA-IB-AAUT-01A-11D-A377-08	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	0	0	0	5	427	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	0.935960	5	422	0	65	2		0	0	0	0	66	2	-2.063412	0	1	0	0		1	1	2	3	1.999301	0	0.110000	2.010000	0.115352	0.240000	0.080000	1.000000	0.210000	0.315206	0.240000	0	0.150000	0.400000
CCIN	881	broad.mit.edu	37	9	36170278	36170278	+	Missense_Mutation	SNP	G	G	A	rs146585082	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:36170278G>A	ENST00000335119.2	+	1	890	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	p.R260H(1)		21			STAD - Stomach adenocarcinoma(86;0.228)		CTGATGGACCGCAAGCAGGAG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000335119.2	0	1	hg19	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.740000	2.922874	0.526530	0.001135	0.0	ENSG00000185972	ENST00000335119	T	0.66460	-0.21	5.840000	5.840000	0.934240	.	0.000000	0.51477	D	0.000083	T	0.71693	0.3370	L	0.29908	0.895	0.369210	D	0.891407	D	0.71674	0.998	D	0.72075	0.976	T	0.70872	-0.4754	10	0.25751	T	0.34	.	15.639700	0.769890	0.0:0.0:1.0:0.0	.	260	Q13939	CALI_HUMAN	H	260	ENSP00000334996:R260H	ENSP00000334996:R260H	R	+	2	0	CCIN	36160278	1	0.714170	1.000000	0.803570	0.992000	0.810270	5.667000	0.680670	2.770000	0.952760	0.563000	0.778840	CGC		TCGA-IB-AAUT-01A-11D-A377-08	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	0	0	0	4	141	1	40		0	0	0	1	40	2		0	0	0	0	0	2	0	0.019861	4	140	1	40	13		0	0	0	1	40	2	-3.398341	1	1	121412	11	38	1	1	2	3	1.999301	0	0.110000	2.010000	0.115352	0.580000	0.190000	1.000000	1.000000	0.615085	0.580000	0	0.340000	0.980000
GPRASP2	114928	broad.mit.edu	37	X	101969855	101969855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chrX:101969855G>T	ENST00000535209.1	+	4	889	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E20*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2			30					GAAGGCTGGGGAAGAGGTTAT	0.527000																								0							SO:0001587	stop_gained			ENST00000535209.1	0	1	hg19	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	41.000000	8.822422	0.989660	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.430000	3.530000	0.404190	.	0.173091	0.27946	N	0.017206	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	9.818000	0.408650	0.0:0.2057:0.7943:0.0	.	.	.	.	X	20	.	ENSP00000339057:E20X	E	+	1	0	GPRASP2	101856511	9.610000e-01	0.329480	0.994000	0.499520	0.615000	0.374170	1.145000	0.315770	0.921000	0.369940	0.468000	0.433440	GAA		TCGA-IB-AAUT-01A-11D-A377-08	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	0	0	0	7	275	0	54	0	3.326814e-02	0	10	0	54	2		0	0	0	0	0	2	1	0.979701	7	270	0	54	2		0	0	0	0	54	2	-3.432247	1	1	0	0		1	0	1	1			0.110000	2.010000	0.110000	0.230000	0.100000	0.430000	0.220000	0.248756	0.230000	0	0.150000	0.330000
