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
PRDM16	63976	broad.mit.edu	37	1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16			59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)			CCCCTTCAACTTCCGGTCCCCA	0.639000			T	EVI1	MDS, AML										Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0							SO:0001589	frameshift_variant			ENST00000270722.5	0	1	hg19	CCDS41236.2																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	1	0	0	45	332	0	102	0	7.566860e-02	0	4	0	102	2	0	0	0	0	0	0		1	1.000000	48	329	0	96	2	0	0	0	0	0	0		-6.771934	1	1	0	0		1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.700000	5.200000e-01	0.940000	0.710000	0.715416	0.700000	0	0.610000	0.810000
MUTYH	4595	broad.mit.edu	37	1	45796949	45796949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:45796949delC	ENST00000372098.3	-	14	1505	c.1372delG	c.(1372-1374)gaafs	p.E458fs	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.E461fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs			Q9UIF7	MUTYH_HUMAN	mutY homolog			19	Acute lymphoblastic leukemia(166;0.155)				GTCTGCCCTTCCAAGGCCAGC	0.542000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0							SO:0001589	frameshift_variant	Familial Cancer Database	MAP, MYH-associated polyposis	ENST00000372098.3	1	1	hg19	CCDS520.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	1	0	0	60	318	0	77	1	9.965906e-01	3	45	0	77	2	0	0	0	0	0	0		1	1.000000	67	316	1	76	17	0	0	0	0	0	0		-2.976461	1	1	0	0		1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.930000	7.300000e-01	1.000000	1.000000	0.921583	0.930000	1	0.820000	1.000000
ADAM12	8038	broad.mit.edu	37	10	127755358	127755358	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12			69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)			TGGCATTGCAGCAGCGATTCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000368679.4	0	1	hg19	CCDS7653.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	0	0	0	5	201	0	59	0	1.972939e-01	1	27	0	59	2		0	0	0	0	0	2	1	0.938304	5	201	0	57	2		0	0	0	0	0	2	-6.537760	1	1	121412	1	28	1	1	2	3	2.042892	0	0.340000	1.880000	0.341120	0.150000	5.000000e-02	0.320000	0.140000	0.168386	0.150000	0	0.090000	0.230000
DOCK1	1793	broad.mit.edu	37	10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1			72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)			ATCGAGAGAACCATATATACA	0.448000																								0							SO:0001583	missense			ENST00000280333.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.47	3.833993	0.71373	.	.	ENSG00000150760	ENST00000280333	T	0.23348	1.91	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.98;0.988;0.997	T	0.71318	-0.4629	10	0.87932	D	0	.	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1462;1528;1462	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1462	ENSP00000280333:T1462I	ENSP00000280333:T1462I	T	+	2	0	DOCK1	129103425	1.000000	0.71417	0.336000	0.25522	0.625000	0.37756	7.604000	0.82830	2.634000	0.89283	0.650000	0.86243	ACC		TCGA-XD-AAUL-01A-21D-A397-08	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	19	137	0	33	1	9.950280e-01	23	42	0	33	2		0	0	0	0	0	2	1	0.999993	19	135	0	33	2		0	0	0	0	0	2	-10.412170	1	1	0	0		1	1	2	3	2.042892	0	0.340000	1.880000	0.341120	0.720000	4.500000e-01	1.000000	1.000000	0.732582	0.720000	0	0.570000	0.890000
LRRC27	80313	broad.mit.edu	37	10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000368614.3	+	7	1091	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27			18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)			TACCAAATGGCGATCCGAGCA	0.522000																								0							SO:0001583	missense			ENST00000368614.3	0	1	hg19	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.464280|4.464280	0.84425|0.84425	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079	T;T;T;T;T;T|.	0.42513|.	2.69;2.59;2.59;4.35;4.35;0.97|.	4.25|4.25	-8.49|-8.49	0.00931|0.00931	.|.	4.873430|.	0.00508|.	N|.	0.000163|.	T|.	0.09423|.	0.0232|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.28470|.	0.048;0.093;0.213;0.136|.	B;B;B;B|.	0.25405|.	0.024;0.044;0.06;0.016|.	T|.	0.10451|.	-1.0629|.	9|.	0.05436|0.02654	T|T	0.98|1	-0.0569|-0.0569	3.4252|3.4252	0.07408|0.07408	0.1986:0.4722:0.1832:0.146|0.1986:0.4722:0.1832:0.146	.|.	329;202;267;329|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|.	.;.;.;LRC27_HUMAN|.	V|X	329;329;329;267;267;202|361	ENSP00000357604:A329V;ENSP00000357603:A329V;ENSP00000357602:A329V;ENSP00000357601:A267V;ENSP00000357599:A267V;ENSP00000407949:A202V|.	ENSP00000357599:A267V|ENSP00000342641:R361X	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134015160|134015160	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.914000|-3.914000	0.00335|0.00335	-3.621000|-3.621000	0.00131|0.00131	-1.080000|-1.080000	0.02220|0.02220	GCG|CGA		TCGA-XD-AAUL-01A-21D-A397-08	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	0	0	6	928	0	269	0	1.911051e-02	0	27	0	269	2		0	0	0	0	0	2	1	0.964431	6	923	0	266	2		0	0	0	0	0	2	-2.044663	0	1	121412	3	39	1	1	2	3	2.042892	0	0.340000	1.880000	0.341120	0.030000	0	0.080000	0.040000	0.043807	0.030000	0	0.020000	0.060000
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1			8		Colorectal(252;0.0458)			AAACACCAGCGATCTTCAGCC	0.468000																								0							SO:0001583	missense			ENST00000371380.3	1	1	hg19	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114130	0.56398	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.91	4.07	0.47477	.	0.307693	0.34725	N	0.003735	T	0.14874	0.0359	N	0.19112	0.55	0.36609	D	0.875091	P;P;B	0.40931	0.614;0.733;0.103	B;B;B	0.36766	0.08;0.232;0.032	T	0.13388	-1.0511	10	0.17369	T	0.5	.	12.3034	0.54887	0.1361:0.0:0.8639:0.0	.	1250;958;1266	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1266;1266;958;958	ENSP00000260766:D1266N;ENSP00000360431:D1266N;ENSP00000360438:D958N;ENSP00000360426:D958N	ENSP00000260766:D1266N	D	+	1	0	PLCE1	96008879	1.000000	0.71417	0.016000	0.15963	0.889000	0.51656	6.412000	0.73303	0.843000	0.35070	0.555000	0.69702	GAT		TCGA-XD-AAUL-01A-21D-A397-08	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	85	470	0	139	0	1.735837e-01	0	5	0	139	2		0	0	0	0	0	2	1	1.000000	86	466	0	139	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.043197	0	0.340000	1.880000	0.341120	0.890000	7.300000e-01	1.000000	1.000000	0.899049	0.890000	1	0.810000	1.000000
CPT1A	1374	broad.mit.edu	37	11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)			42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)	Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433000																								0							SO:0001583	missense			ENST00000265641.5	0	1	hg19	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089129	0.20390	0.0	2.33E-4	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.15	0.0249	0.14143	.	0.225561	0.41500	N	0.000876	D	0.84361	0.5455	L	0.60067	1.865	0.52501	D	0.999954	B;B;B	0.28933	0.03;0.037;0.228	B;B;B	0.28638	0.052;0.052;0.092	T	0.77983	-0.2382	10	0.44086	T	0.13	.	10.8556	0.46798	0.0:0.6036:0.0:0.3964	.	284;284;284	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	284	ENSP00000439084:R284H;ENSP00000365803:R284H;ENSP00000265641:R284H;ENSP00000446108:R284H	ENSP00000265641:R284H	R	-	2	0	CPT1A	68318876	0.244000	0.23889	0.012000	0.15200	0.140000	0.21249	0.769000	0.26604	0.201000	0.20466	0.655000	0.94253	CGC		TCGA-XD-AAUL-01A-21D-A397-08	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	0	0	0	6	400	0	113	0	2.802167e-01	0	61	0	113	2		0	0	0	0	0	2	1	0.964981	6	399	0	111	2		0	0	0	0	0	2	-2.163751	0	1	121412	23	46	1	1	2	3	2.043682	0	0.340000	1.880000	0.341120	0.090000	3.000000e-02	0.190000	0.080000	0.100621	0.090000	0	0.050000	0.140000
ARHGEF17	9828	broad.mit.edu	37	11	73067381	73067381	+	Silent	SNP	C	C	T	rs113094822		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17			32					AGGCTCACATCGAGGGCATGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000263674.3	1	1	hg19	CCDS8221.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1	20	99	0	40	1	9.999588e-01	3	87	0	40	2		0	0	0	0	0	2	1	0.999997	19	99	0	40	2		0	0	0	0	0	2	-20.000000	1	1	121372	1	35	1	1	2	3	2.043682	0	0.340000	1.880000	0.341120	0.990000	6.400000e-01	1.000000	1.000000	0.924078	0.990000	1	0.800000	1.000000
TRPV4	59341	broad.mit.edu	37	12	110234507	110234507	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.I385I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4			35					TGTGCTGAAAGATCTGCACAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000418703.2	0	1	hg19	CCDS9134.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	0	11	263	0	69	1	5.454876e-01	2	41	0	69	2		0	0	0	0	0	2	1	0.998395	11	262	0	69	2		0	0	0	0	0	2	-12.879340	1	1	0	0		1	0	0	0	2.010784	0	0.340000	1.880000	0.328586	0.230000	1.200000e-01	0.390000	0.230000	0.249539	0.230000	0	0.170000	0.320000
ATP2A2	488	broad.mit.edu	37	12	110783101	110783101	+	Silent	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000539276.2	+	18	2764	c.2655G>C	c.(2653-2655)gtG>gtC	p.V885V	ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2			38					TTGAAGGCGTGGATTGTGCAA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000539276.2	0	1	hg19	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226552	0.22542	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	2.35	0.29111	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	3.8067	0.08780	0.1464:0.1051:0.5553:0.1932	.	.	.	.	R	776	.	.	G	+	1	0	ATP2A2	109267484	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.226000	0.17776	0.730000	0.32425	-0.345000	0.07892	GGA		TCGA-XD-AAUL-01A-21D-A397-08	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	0	0	6	682	0	192	1	9.102100e-01	4	487	0	192	2		0	0	0	0	0	2	1	0.963625	4	675	0	190	2		0	0	0	0	0	2	-2.238275	0	0	0	0		1	0	0	0	2.010784	0	0.340000	1.880000	0.328586	0.050000	1.000000e-02	0.110000	0.050000	0.058514	0.050000	0	0.030000	0.080000
SDS	10993	broad.mit.edu	37	12	113831803	113831803	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase			11				L-Serine(DB00133)	CAGTCTTCACGCCCAGGGCCT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000257549.4	1	1	hg19	CCDS9169.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	1	0	1	37	170	0	51	0	9.841895e-01	0	33	0	51	2		0	0	0	0	0	2	1	1.000000	37	169	0	51	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.010784	0	0.340000	1.880000	0.328586	0.990000	7.500000e-01	1.000000	1.000000	0.958183	0.990000	1	0.880000	1.000000
RNF34	80196	broad.mit.edu	37	12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000392464.2	+	3	418	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117*					ring finger protein 34, E3 ubiquitin protein ligase	p.R118*(1)		2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TCAGTTAATGCGACTGAAGGT	0.428000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000392464.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302047	0.81136	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795	.	.	.	5.87	1.75	0.24633	.	0.108690	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.5701	16.5911	0.84765	0.5926:0.4074:0.0:0.0	.	.	.	.	X	117;118;110;117;118	.	ENSP00000346850:R118X	R	+	1	2	RNF34	120339813	0.997000	0.39634	0.999000	0.59377	0.982000	0.71751	0.562000	0.23531	0.468000	0.27243	-0.152000	0.13540	CGA		TCGA-XD-AAUL-01A-21D-A397-08	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	0	0	0	5	590	0	153	0	1.617830e-01	0	70	0	153	2		0	0	0	0	0	2	1	0.937777	5	590	0	151	2		0	0	0	0	0	2	-2.177290	0	1	0	0		1	0	0	0	2.010784	0	0.340000	1.880000	0.328586	0.040000	1.000000e-02	0.110000	0.050000	0.057881	0.040000	0	0.020000	0.080000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-XD-AAUL-01A-21D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	34	271	0	99	1	6.988829e-01	8	13	0	99	2	1	1	56	356	0	339	2	1	1.000000	34	271	0	98	2	1	1	1365	6666	1	8016	17	-13.885680	1	1	0	0		1	0	0	0	2.011841	0	0.340000	1.880000	0.328586	0.640000	4.500000e-01	0.850000	0.640000	0.654766	0.640000	0	0.540000	0.750000
KRT76	51350	broad.mit.edu	37	12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	p.R358H(1)		27					ATACTGGGCGCGGACCTCGGC	0.587000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000332411.2	0	1	hg19	CCDS8838.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.82	2.053838	0.36277	0.002951	0.0	ENSG00000185069	ENST00000332411	D	0.93307	-3.2	4.42	-2.3	0.06785	Filament (1);	0.734040	0.11408	N	0.567073	D	0.96494	0.8856	M	0.90814	3.15	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91683	0.5360	10	0.87932	D	0	.	11.445	0.50118	0.0:0.3928:0.0:0.6072	.	358	Q01546	K22O_HUMAN	H	358	ENSP00000330101:R358H	ENSP00000330101:R358H	R	-	2	0	KRT76	51452209	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.434000	0.21494	-0.489000	0.06716	0.462000	0.41574	CGC		TCGA-XD-AAUL-01A-21D-A397-08	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	0	4	179	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.888693	4	177	0	46	2		0	0	0	0	0	2	-2.732006	1	1	121410	48	49	1	0	0	0	2.011841	0	0.340000	1.880000	0.328586	0.130000	4.000000e-02	0.300000	0.130000	0.154540	0.130000	0	0.080000	0.220000
LRRIQ1	84125	broad.mit.edu	37	12	85623348	85623348	+	Missense_Mutation	SNP	C	C	T	rs1395676	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:85623348C>T	ENST00000393217.2	+	25	4937	c.4876C>T	c.(4876-4878)Cgg>Tgg	p.R1626W	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	p.R1626W(1)		83					AAAATTAGAACGGAATAGAGA	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393217.2	1	0	hg19	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038929	0.07497	.	.	ENSG00000133640	ENST00000393217	T	0.55052	0.54	5.3	-0.326	0.12698	.	.	.	.	.	T	0.32675	0.0837	N	0.24115	0.695	0.09310	N	0.999994	B	0.33777	0.425	B	0.24269	0.052	T	0.15521	-1.0434	9	0.87932	D	0	.	8.6648	0.34114	0.4479:0.4346:0.0:0.1174	.	1626	Q96JM4	LRIQ1_HUMAN	W	1626	ENSP00000376910:R1626W	ENSP00000376910:R1626W	R	+	1	2	LRRIQ1	84147479	0.998000	0.40836	0.452000	0.26994	0.279000	0.26890	0.865000	0.27940	0.065000	0.16485	-0.272000	0.10252	CGG		TCGA-XD-AAUL-01A-21D-A397-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	98	397	0	116	0	3.983871e-02	1	1	0	116	2		0	0	0	0	0	2	1	1.000000	98	397	0	116	2		0	0	0	0	0	2	-2.306346	0	1	120792	733	62	1	0	0	0	2.010784	0	0.340000	1.880000	0.328586	0.990000	9.400000e-01	1.000000	1.000000	0.996901	0.990000	1	0.990000	1.000000
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	p.L1072V(2)|p.L1072L(1)		120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)			CAGTCAGTACTTGCCCACTGA	0.532000													Melanoma(72;952 1291 1619 12849 33676)											3	Substitution - Missense(2)|Substitution - coding silent(1)						SO:0001583	missense			ENST00000377918.3	0	1	hg19	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	6.250	0.414235	0.11870	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	1.04	0.20106	.	0.144833	0.46758	D	0.000262	T	0.26521	0.0648	N	0.22421	0.69	0.31959	N	0.608665	B	0.20261	0.043	B	0.16722	0.016	T	0.15867	-1.0422	9	.	.	.	.	5.7106	0.17933	0.1369:0.428:0.0:0.4351	.	1072	O14917	PCD17_HUMAN	V	1072	ENSP00000367151:L1072V	.	L	+	1	2	PCDH17	57197163	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.380000	0.20602	0.182000	0.20032	0.533000	0.62120	TTG		TCGA-XD-AAUL-01A-21D-A397-08	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	0	0	6	389	0	79	0	1.148881e-02	0	9	0	79	2		0	0	0	0	0	2	1	0.964426	6	386	0	78	2		0	0	0	0	0	2	-6.219507	1	1	0	0		1	1	2	3	2.051192	0	0.340000	1.880000	0.342236	0.090000	3.000000e-02	0.210000	0.090000	0.112349	0.090000	0	0.060000	0.140000
SLC8A3	6547	broad.mit.edu	37	14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3			54					CACCCTCCTTGCAGTCCGATG	0.542000																								0							SO:0001587	stop_gained			ENST00000381269.2	0	1	hg19	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790219	0.90367	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	4.84	1.96	0.26148	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5618	0.33516	0.3052:0.0:0.6948:0.0	.	.	.	.	X	54	.	ENSP00000349392:C54X	C	-	3	2	SLC8A3	69704731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.591000	0.53986	0.645000	0.30675	-0.251000	0.11542	TGC		TCGA-XD-AAUL-01A-21D-A397-08	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	1	0	1	39	160	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	1.000000	39	159	0	59	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.054309	0	0.340000	1.880000	0.342236	0.990000	8.500000e-01	1.000000	1.000000	0.987780	0.990000	1	0.990000	1.000000
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000561100.1	-	3	2360	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176			23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)			CTCATCTTCCGCTCCACCCTG	0.512000																								0							SO:0001583	missense			ENST00000561100.1	0	1	hg19	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188762	0.57909	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85556	-2.0	6.17	3.22	0.36961	.	0.112267	0.64402	N	0.000014	T	0.76357	0.3976	L	0.48642	1.525	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.74858	-0.3521	10	0.87932	D	0	-10.342	8.0277	0.30446	0.1344:0.0:0.6508:0.2148	.	499	Q14439	GP176_HUMAN	W	499;454	ENSP00000439361:R454W	ENSP00000299092:R499W	R	-	1	2	GPR176	37880678	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.812000	0.47994	0.939000	0.37446	0.655000	0.94253	CGG		TCGA-XD-AAUL-01A-21D-A397-08	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	0	0	0	6	518	0	114	0	1.570954e-01	0	52	0	114	2		0	0	0	0	0	2	1	0.964317	6	514	0	114	2		0	0	0	0	0	2	-2.540621	1	1	121412	9	45	1	0	1	1	2.040204	0	0.340000	1.880000	0.338876	0.060000	2.000000e-02	0.140000	0.060000	0.077875	0.060000	0	0.040000	0.110000
AQP9	366	broad.mit.edu	37	15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G	rs76614170	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9			21					CATCTATGTTCTTGTCATTGA	0.433000																								0							SO:0001583	missense			ENST00000219919.4	1	1	hg19	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194115	0.22037	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.12465	2.68;2.68	5.31	-0.166	0.13351	Aquaporin-like (2);	0.479864	0.18495	N	0.139524	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.24576	0.106	B	0.23852	0.049	T	0.34378	-0.9831	10	0.28530	T	0.3	.	3.1734	0.06560	0.1104:0.4588:0.2167:0.2141	.	264	O43315	AQP9_HUMAN	V	264	ENSP00000219919:L264V;ENSP00000441390:L264V	ENSP00000219919:L264V	L	+	1	0	AQP9	56263528	0.003000	0.15002	0.001000	0.08648	0.991000	0.79684	0.074000	0.14662	0.095000	0.17434	0.655000	0.94253	CTT		TCGA-XD-AAUL-01A-21D-A397-08	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	1	0	0	107	496	0	165	0	6.080381e-01	0	11	0	165	2		0	0	0	0	0	2	1	1.000000	107	496	0	165	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	2.040204	0	0.340000	1.880000	0.338876	0.990000	8.600000e-01	1.000000	1.000000	0.982068	0.990000	1	0.940000	1.000000
HS3ST4	9951	broad.mit.edu	37	16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4			15					GAAACCCGAGATCCCCACCTT	0.542000																								0							SO:0001583	missense			ENST00000331351.5	1	1	hg19	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273903	0.59649	.	.	ENSG00000182601	ENST00000331351	T	0.81415	-1.49	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.82545	0.5060	L	0.55017	1.72	0.47094	D	0.999317	P	0.35944	0.529	P	0.46940	0.532	T	0.81120	-0.1077	10	0.35671	T	0.21	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	308	Q9Y661	HS3S4_HUMAN	V	308	ENSP00000330606:I308V	ENSP00000330606:I308V	I	+	1	0	HS3ST4	26054621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.015000	0.59207	0.533000	0.62120	ATC		TCGA-XD-AAUL-01A-21D-A397-08	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	1	0	1	104	626	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1.000000	103	625	0	168	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.055871	0	0.340000	1.880000	0.342236	0.830000	6.900000e-01	1.000000	0.840000	0.845158	0.830000	0	0.760000	0.920000
KRT32	3882	broad.mit.edu	37	17	39619177	39619177	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32			21		Breast(137;0.000812)			CCTGGTTCTGCCGCTCCAGGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000225899.3	0	1	hg19	CCDS11393.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	0	0	0	5	460	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	0.933466	5	448	0	145	2		0	0	0	0	0	2	-2.440129	0	1	0	0		1	1	2	3	2.052054	0	0.340000	1.880000	0.342236	0.060000	2.000000e-02	0.160000	0.060000	0.084572	0.060000	0	0.030000	0.110000
SLC16A11	162515	broad.mit.edu	37	17	6945697	6945697	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11			9					GGTCTAAAGCGTGGGGAGCCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000308009.1	1	1	hg19	CCDS11086.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	1	0	0	7	30	0	13	1	6.112075e-01	4	6	0	13	2		0	0	0	0	0	2	1	0.984295	7	30	0	13	2		0	0	0	0	0	2	-15.407510	1	1	0	0		1	0	1	1	1.721025	1	0.340000	1.880000	0.212880	0.780000	4.000000e-01	1.000000	1.000000	0.773814	0.780000	0	0.580000	0.960000
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642000		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)						SO:0001583	missense	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;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		TCGA-XD-AAUL-01A-21D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	63	216	0	95	1	9.999010e-01	17	33	0	95	2	1	1	145	613	0	902	2	1	1.000000	63	216	0	93	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.721025	1	0.340000	1.880000	0.212880	0.980000	8.200000e-01	1.000000	1.000000	0.965763	0.980000	1	0.910000	1.000000
TNPO2	30000	broad.mit.edu	37	19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000592287.1	-	5	454	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2			28					CCCTTGGAAGCGATGGTGGTG	0.632000																								0							SO:0001583	missense			ENST00000592287.1	1	1	hg19	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203182	0.58234	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.050139	0.85682	D	0.000000	T	0.70064	0.3181	M	0.76433	2.335	0.58432	D	0.999999	B;B	0.30482	0.281;0.246	B;B	0.19148	0.024;0.019	T	0.69446	-0.5143	10	0.39692	T	0.17	-24.7164	18.0522	0.89353	0.0:1.0:0.0:0.0	.	280;116	Q4LE60;O14787	.;TNPO2_HUMAN	T	280;116;116;116;116;116;116	ENSP00000407182:A116T;ENSP00000389648:A116T;ENSP00000397379:A116T;ENSP00000349321:A116T	ENSP00000349321:A116T	A	-	1	0	TNPO2	12687533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.330000	0.59266	2.563000	0.86464	0.555000	0.69702	GCT		TCGA-XD-AAUL-01A-21D-A397-08	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	1	0	1	9	78	0	34	1	9.521771e-01	11	38	0	34	2		0	0	0	0	0	2	1	0.995044	9	78	0	33	2		0	0	0	0	0	2	-15.473470	1	1	121056	1	34	1	1	2	3	2.054012	0	0.340000	1.880000	0.342236	0.620000	3.100000e-01	1.000000	1.000000	0.647372	0.620000	0	0.450000	0.850000
FNDC7	163479	broad.mit.edu	37	1	109270590	109270590	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7			20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)			GCACCCTTTCGGCTCTAGAGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000370017.3	1	1	hg19	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442051	0.12164	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	4	.	.	.	-10.2511	7.5534	0.27810	0.1:0.0588:0.4515:0.3897	.	.	.	.	S	200	.	.	G	+	1	0	FNDC7	109072113	0.000000	0.05858	0.062000	0.19696	0.789000	0.44602	-3.528000	0.00441	-3.670000	0.00123	-1.036000	0.02392	GGC		TCGA-XD-AAUL-01A-21D-A397-08	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	1	0	1	72	408	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1.000000	71	406	0	113	2		0	0	0	0	0	2	-2.524082	1	1	121412	6	42	1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.880000	7.000000e-01	1.000000	1.000000	0.884760	0.880000	1	0.790000	0.990000
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1			20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		TTGCAGTCTGCGGCCATGAGG	0.552000													NSCLC(4;32 234 1864 2492 3259 13747 17376)											0							SO:0001583	missense			ENST00000368445.5	0	1	hg19	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		TCGA-XD-AAUL-01A-21D-A397-08	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	0	0	0	9	1107	1	307	0	7.383232e-02	0	296	1	307	6		0	0	0	0	0	2	0	0.193907	9	1096	1	305	14		0	0	0	0	0	2	-1.824562	0	1	121412	5	42	1	0	1	1	2.039275	0	0.340000	1.880000	0.338876	0.040000	1.000000e-02	0.090000	0.040000	0.052550	0.040000	0	0.020000	0.070000
RXRG	6258	broad.mit.edu	37	1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma			38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)			Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522000																								0							SO:0001583	missense			ENST00000359842.5	0	1	hg19	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869333	0.91587	.	.	ENSG00000143171	ENST00000359842	D	0.96802	-4.13	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.50847	1.595	0.80722	D	1.000000	D	0.76494	0.999	D	0.76575	0.988	D	0.95762	0.8801	9	0.38643	T	0.18	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	399	P48443	RXRG_HUMAN	V	399	ENSP00000352900:A399V	ENSP00000352900:A399V	A	-	2	0	RXRG	163642721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	GCC		TCGA-XD-AAUL-01A-21D-A397-08	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	0	0	0	5	353	0	93	0	9.552450e-04	0	3	0	93	2		0	0	0	0	0	2	1	0.937961	5	353	0	92	2		0	0	0	0	0	2	-2.140102	0	1	0	0		1	1	2	3	2.045081	0	0.340000	1.880000	0.341120	0.080000	2.000000e-02	0.190000	0.080000	0.097682	0.080000	0	0.050000	0.140000
PTPN14	5784	broad.mit.edu	37	1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					GGTCGTGGCCGTGGGTAGGGG	0.652000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001583	missense			ENST00000366956.5	1	1	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850976	0.71719	0.0	1.16E-4	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.61	4.68	0.58851	.	0.194784	0.45606	D	0.000350	T	0.72162	0.3426	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.72200	-0.4362	10	0.38643	T	0.18	.	16.3998	0.83635	0.0:0.0:0.8676:0.1324	.	572	Q15678	PTN14_HUMAN	W	572	ENSP00000355923:R572W	ENSP00000355923:R572W	R	-	1	2	PTPN14	212624107	0.883000	0.30277	0.857000	0.33713	0.992000	0.81027	3.487000	0.53222	1.482000	0.48325	0.650000	0.86243	CGG		TCGA-XD-AAUL-01A-21D-A397-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	1	57	242	0	75	1	5.386757e-01	2	7	0	75	2		0	0	0	0	0	2	1	1.000000	57	238	0	73	2		0	0	0	0	0	2	-3.515253	1	1	121296	4	39	1	0	1	1	2.039647	0	0.340000	1.880000	0.338876	0.990000	8.700000e-01	1.000000	1.000000	0.988569	0.990000	1	0.980000	1.000000
TAF5L	27097	broad.mit.edu	37	1	229730353	229730353	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000366676.1	-	4	1460	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000258281.2_Silent_p.G487G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)			GCTGGTCCTCGCCAGCAGACG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000366676.1	0	1	hg19	CCDS1581.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	0	0	0	6	533	0	136	0	8.000068e-02	0	35	0	136	2		0	0	0	0	0	2	1	0.964124	6	528	0	133	2		0	0	0	0	0	2	-2.663731	1	1	121412	1	29	1	0	1	1	2.039647	0	0.340000	1.880000	0.338876	0.060000	2.000000e-02	0.140000	0.060000	0.075726	0.060000	0	0.040000	0.100000
OR2C3	81472	broad.mit.edu	37	1	247695055	247695055	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3			43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		TGATGCTCCCGTAAAACAGAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000366487.3	0	1	hg19	CCDS1634.2																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	0	0	0	5	348	1	79		0	0	0	1	79	2		0	0	0	0	0	2	0	0.011809	5	347	1	78	16		0	0	0	0	0	2	-2.967221	1	1	121412	1	42	1	0	1	1	2.039647	0	0.340000	1.880000	0.338876	0.080000	2.000000e-02	0.180000	0.080000	0.098708	0.080000	0	0.050000	0.140000
GPATCH3	63906	broad.mit.edu	37	1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3			15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)			GCTTCATGCCGTTCCCATTCC	0.602000																								0							SO:0001583	missense			ENST00000361720.5	0	1	hg19	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152813	0.78001	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.56776	0.44	4.57	4.57	0.56435	.	0.073564	0.56097	D	0.000023	T	0.73187	0.3555	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77534	-0.2552	10	0.87932	D	0	-19.9713	11.608	0.51043	0.0:0.0:0.6939:0.3061	.	302	Q96I76	GPTC3_HUMAN	W	302;284;113	ENSP00000354645:R302W	ENSP00000354645:R302W	R	-	1	2	GPATCH3	27093461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.637000	0.46553	2.363000	0.80096	0.563000	0.77884	CGG		TCGA-XD-AAUL-01A-21D-A397-08	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	0	0	0	6	535	0	169	0	1.980680e-01	0	63	0	169	2		0	0	0	0	0	2	1	0.964128	6	531	0	164	2		0	0	0	0	0	2	-2.239679	0	1	0	0		1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.060000	2.000000e-02	0.150000	0.060000	0.084888	0.060000	0	0.040000	0.110000
FUBP1	8880	broad.mit.edu	37	1	78430650	78430650	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370768.2	-	9	721	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370767.1_Silent_p.R214R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1			17					ACTCCAGCCCGTTCCTGTTAC	0.358000			F, N		oligodendroglioma										Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0							SO:0001819	synonymous_variant			ENST00000370768.2	1	1	hg19	CCDS683.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	1	0	0	29	472	0	127	1	9.940525e-01	14	117	0	127	2		0	0	0	0	0	2	1	1.000000	29	468	0	127	2		0	0	0	0	0	2	-6.291676	1	1	0	0		1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.340000	2.300000e-01	0.500000	0.340000	0.357041	0.340000	0	0.280000	0.420000
COL24A1	255631	broad.mit.edu	37	1	86590618	86590618	+	Silent	SNP	A	A	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					CATAAAGCTCAGTTTCATAGC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000370571.2	0	1	hg19	CCDS41353.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	0	0	0	6	375	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	0.964990	6	374	0	76	2		0	0	0	0	0	2	-6.400506	1	1	0	0		1	1	2	3	2.057568	0	0.340000	1.880000	0.342236	0.090000	3.000000e-02	0.210000	0.100000	0.116078	0.090000	0	0.060000	0.150000
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000316562.4	+	6	1600	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	PANK2_ENST00000497424.1_Missense_Mutation_p.R241W|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2			15					GATCGCCATGCGGCTTTTGGC	0.388000																								0		GRCh37	CM033434	PANK2	M		SO:0001583	missense			ENST00000316562.4	0	1	hg19	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167626	0.78339	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99537	-6.11;-6.11	5.12	1.89	0.25635	.	0.058340	0.64402	D	0.000003	D	0.99083	0.9685	L	0.46819	1.47	0.36196	D	0.850384	D	0.89917	1.0	D	0.77557	0.99	D	0.99414	1.0931	10	0.87932	D	0	.	5.9846	0.19426	0.4537:0.4539:0.0:0.0925	.	532	Q9BZ23	PANK2_HUMAN	W	241;532;348	ENSP00000417609:R241W;ENSP00000313377:R532W	ENSP00000313377:R532W	R	+	1	2	PANK2	3847375	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.670000	0.74467	0.735000	0.32537	0.655000	0.94253	CGG		TCGA-XD-AAUL-01A-21D-A397-08	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	0	0	0	7	817	0	238	0	1.356132e-01	0	65	0	238	2		0	0	0	0	0	2	0	0.126075	6	812	1	238	13		0	0	0	0	0	2	-1.860360	0	1	0	0		1	1	2	3	2.058330	0	0.340000	1.880000	0.342236	0.050000	1.000000e-02	0.110000	0.050000	0.066339	0.050000	0	0.030000	0.080000
RIMBP3	85376	broad.mit.edu	37	22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3			13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		TCTCTTCACCCCCAGAGCTTG	0.632000																								0							SO:0001583	missense			ENST00000426804.1	0	1	hg19	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515436	0.44763	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17054	2.3	3.58	2.51	0.30379	.	1.948520	0.02516	N	0.092008	T	0.22399	0.0540	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	B	0.44224	0.444	T	0.24368	-1.0162	10	0.66056	D	0.02	-6.4639	8.1334	0.31039	0.2404:0.7596:0.0:0.0	.	1319	Q9UFD9	RIM3A_HUMAN	E	1319;1413	ENSP00000391564:G1413E	ENSP00000347318:G1319E	G	-	2	0	RIMBP3	18837064	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.054000	0.14205	0.805000	0.34159	0.423000	0.28283	GGG		TCGA-XD-AAUL-01A-21D-A397-08	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	0	13	59	0	15	0	3.783784e-02	0	2	0	15	2		0	0	0	0	0	2	1	0.965093	5	24	0	30	2		0	0	0	0	0	2	-19.999880	1	1	0	0		1	2	2	4	2.147644	0	0.340000	1.880000	0.374052	0.990000	6.600000e-01	1.000000	1.000000	0.958200	0.990000	1	0.890000	1.000000
TTLL8	164714	broad.mit.edu	37	22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8			12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)			CGGCCCCGGGACTTGGCCGCG	0.607000																								0							SO:0001583	missense			ENST00000266182.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.98	3.271331	0.59649	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.06608	3.28;3.28;3.28	4.61	4.61	0.57282	.	0.136701	0.51477	D	0.000092	T	0.34424	0.0897	H	0.94385	3.53	0.37158	D	0.902473	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.87932	D	0	.	13.2755	0.60184	1.0:0.0:0.0:0.0	.	339	B5MDV0	.	P	339;323;359	ENSP00000266182:S339P;ENSP00000387509:S323P;ENSP00000392252:S359P	ENSP00000266182:S339P	S	-	1	0	TTLL8	48814925	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.401000	0.73256	1.836000	0.53414	0.459000	0.35465	TCC		TCGA-XD-AAUL-01A-21D-A397-08	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	59	222	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	58	219	0	101	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.711071	1	0.340000	1.880000	0.204819	0.920000	7.600000e-01	1.000000	0.990000	0.919433	0.920000	1	0.850000	0.980000
TTN	7273	broad.mit.edu	37	2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000591111.1	-	77	22273	c.22049C>T	c.(22048-22050)aCg>aTg	p.T7350M	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T7667M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTCATTGATCGTAAGCAATGC	0.453000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	11.16	1.555764	0.27827	0.0	1.19E-4	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73598	0.3607	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.58577	0.841	T	0.75402	-0.3330	9	0.87932	D	0	.	9.8046	0.40786	0.069:0.0:0.7906:0.1404	.	7350	Q8WZ42	TITIN_HUMAN	M	6423	ENSP00000343764:T6423M	ENSP00000343764:T6423M	T	-	2	0	TTN	179293991	0.900000	0.30661	0.994000	0.49952	0.904000	0.53231	3.281000	0.51685	2.937000	0.99478	0.650000	0.86243	ACG		TCGA-XD-AAUL-01A-21D-A397-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	6	576	1	122		0	0	0	1	122	2		0	0	0	0	0	2	0	0.015802	6	573	1	121	17		0	0	0	0	0	2	-2.593289	1	1	120908	1	39	1	0	0	0	2.015620	0	0.340000	1.880000	0.330900	0.060000	2.000000e-02	0.120000	0.060000	0.069328	0.060000	0	0.030000	0.090000
SGOL2	151246	broad.mit.edu	37	2	201437658	201437658	+	Silent	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	p.Q863H(1)		46					ATGAATTTCAAACAGTTGATC	0.318000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000357799.4	1	1	hg19	CCDS42796.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	0	0	14	484	0	103	0	1.796690e-02	0	7	0	103	2		0	0	0	0	0	2	1	0.999746	14	480	0	102	2		0	0	0	0	0	2	-12.977720	1	1	120766	5	41	1	0	0	0	2.015620	0	0.340000	1.880000	0.330900	0.160000	9.000000e-02	0.260000	0.160000	0.173363	0.160000	0	0.120000	0.220000
MAP2	4133	broad.mit.edu	37	2	210560818	210560818	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2			124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGTCCCACAGCGTGCGTTTTG	0.507000													Pancreas(27;423 979 28787 29963)											0							SO:0001819	synonymous_variant			ENST00000360351.4	1	1	hg19	CCDS2384.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	1	0	1	57	331	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	1.000000	56	330	0	105	2		0	0	0	0	0	2	-3.320516	1	1	121410	1	37	1	0	0	0	2.015620	0	0.340000	1.880000	0.330900	0.840000	6.500000e-01	1.000000	1.000000	0.853555	0.840000	0	0.740000	0.960000
USP37	57695	broad.mit.edu	37	2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37			35		Renal(207;0.0915)			ACTGATGAGCCGGTACGAATG	0.353000																								0							SO:0001583	missense			ENST00000258399.3	0	1	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562263	0.86335	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.68317	2.08	0.80722	D	1	B;B	0.25904	0.112;0.137	B;B	0.26094	0.039;0.066	T	0.39643	-0.9604	10	0.87932	D	0	-8.6172	17.4426	0.87569	0.0:1.0:0.0:0.0	.	796;890	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	890;890;796;890	ENSP00000258399:R890L;ENSP00000393662:R890L;ENSP00000400902:R796L;ENSP00000396585:R890L	ENSP00000258399:R890L	R	-	2	0	USP37	219030103	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.827000	0.69300	2.327000	0.79052	0.655000	0.94253	CGG		TCGA-XD-AAUL-01A-21D-A397-08	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	0	0	0	4	127	0	33	0	4.875373e-03	0	3	0	33	2		0	0	0	0	0	2	1	0.889737	4	126	0	33	2		0	0	0	0	0	2	-2.893871	1	1	0	0		1	0	0	0	2.015620	0	0.340000	1.880000	0.330900	0.190000	6.000000e-02	0.410000	0.170000	0.214791	0.190000	0	0.110000	0.300000
TRIP12	9320	broad.mit.edu	37	2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12			87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)			TCCTCGAGAATTGTCTTTCTT	0.463000																								0							SO:0001583	missense			ENST00000283943.5	1	1	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663864	0.29515	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.43294	0.95;0.95	5.72	-0.261	0.12963	.	0.285942	0.41500	D	0.000862	T	0.18383	0.0441	N	0.03608	-0.345	0.30514	N	0.769153	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.10450	0.001;0.005;0.0	T	0.13150	-1.0520	10	0.33141	T	0.24	.	11.6681	0.51385	0.0:0.2442:0.0:0.7558	.	68;110;68	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	68;110;110;110;68;68;110;68	ENSP00000283943:N68T;ENSP00000373696:N110T	ENSP00000283943:N68T	N	-	2	0	TRIP12	230432430	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.262000	0.32992	0.060000	0.16281	0.460000	0.39030	AAT		TCGA-XD-AAUL-01A-21D-A397-08	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1	102	574	0	163	1	9.924866e-01	12	32	0	163	2		0	0	0	0	0	2	1	1.000000	102	569	0	162	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.015620	0	0.340000	1.880000	0.330900	0.870000	7.200000e-01	1.000000	1.000000	0.876208	0.870000	1	0.790000	0.960000
DNMT3A	1788	broad.mit.edu	37	2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha			1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCACCCTCTCCCTCTGCTGGG	0.657000			Mis, F, N, S		AML										Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0							SO:0001583	missense			ENST00000264709.3	0	1	hg19	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669794	0.67814	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93712	-3.27;-3.27	4.91	3.07	0.35406	.	0.000000	0.42964	D	0.000639	D	0.84524	0.5491	N	0.14661	0.345	0.33870	D	0.634862	B;B	0.23735	0.09;0.001	B;B	0.23419	0.046;0.0	T	0.82859	-0.0249	10	0.62326	D	0.03	-5.5202	5.9618	0.19303	0.0:0.7014:0.1958:0.1028	.	118;118	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	R	118	ENSP00000324375:G118R;ENSP00000264709:G118R	ENSP00000264709:G118R	G	-	1	0	DNMT3A	25358910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.020000	0.41010	1.046000	0.40249	0.563000	0.77884	GGA		TCGA-XD-AAUL-01A-21D-A397-08	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	0	0	0	5	297	0	78	0	8.719054e-03	0	7	0	78	2		0	0	0	0	0	2	1	0.937504	6	295	0	76	2		0	0	0	0	0	2	-3.843331	1	1	0	0		1	1	2	3	2.042220	0	0.340000	1.880000	0.341120	0.100000	3.000000e-02	0.220000	0.100000	0.115558	0.100000	0	0.060000	0.160000
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin			111					GATCTCAACCGCATGCCCAAG	0.547000																								0							SO:0001583	missense			ENST00000258104.3	0	1	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102291	0.20632	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.28	-7.9	0.01169	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.21044	N	0.081119	T	0.49029	0.1533	N	0.21373	0.66	0.30778	N	0.742287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002	T	0.09618	-1.0666	10	0.20046	T	0.44	-2.9078	15.6058	0.76668	0.6902:0.0:0.3098:0.0	.	695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949	ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H	ENSP00000258104:R1931H	R	+	2	0	DYSF	71759719	0.012000	0.17670	0.251000	0.24312	0.982000	0.71751	-0.679000	0.05203	-2.260000	0.00692	-0.897000	0.02905	CGC		TCGA-XD-AAUL-01A-21D-A397-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	0	0	4	262	0	67	0	5.462954e-01	0	106	0	67	2		0	0	0	0	0	2	1	0.889293	4	260	0	66	2		0	0	0	0	0	2	-2.728886	1	1	0	0		1	1	2	3	2.042220	0	0.340000	1.880000	0.341120	0.090000	2.000000e-02	0.220000	0.090000	0.109128	0.090000	0	0.050000	0.160000
COL6A5	256076	broad.mit.edu	37	3	130189737	130189737	+	Silent	SNP	C	C	T	rs145645992	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000432398.2	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000265379.6_Silent_p.T2500T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5			44					AATATCCCACCGAAGATATGA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000432398.2	1	1	hg19		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.935	-0.444990	0.04604	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.35	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1187	0.03720	0.3297:0.4103:0.11:0.15	.	.	.	.	X	752	.	.	R	+	1	2	COL6A5	131672427	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.103000	0.03329	-0.753000	0.04721	0.655000	0.94253	CGA		TCGA-XD-AAUL-01A-21D-A397-08	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	28	121	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	1.000000	28	119	0	37	2		0	0	0	0	0	2	-3.355193	1	1	120792	3	39	1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.990000	7.700000e-01	1.000000	1.000000	0.971924	0.990000	1	0.920000	1.000000
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42			69					TGCTATGTGCGTTTGCTGTCC	0.507000																								0							SO:0001583	missense			ENST00000286349.3	0	1	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838139	0.16891	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.37	0.561	0.17285	.	0.904453	0.09312	N	0.819434	T	0.14874	0.0359	N	0.03608	-0.345	0.20764	N	0.999857	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.29301	T	0.29	-13.3898	5.8185	0.18514	0.1808:0.4034:0.4158:0.0	.	7	Q8IWZ5	TRI42_HUMAN	I	7	ENSP00000286349:V7I	ENSP00000286349:V7I	V	+	1	0	TRIM42	141879780	0.019000	0.18553	0.964000	0.40570	0.414000	0.31173	0.278000	0.18753	0.657000	0.30906	-0.214000	0.12660	GTT		TCGA-XD-AAUL-01A-21D-A397-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	0	0	5	747	0	211		0	0	0	0	211	2	0	7.003013e-01	0	1025	1	896	6	1	0.936397	5	741	0	210	2		0	0	0	0	0	2	-2.461508	0	1	121412	8	47	1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.030000	0	0.090000	0.040000	0.046541	0.030000	0	0.020000	0.070000
CNTN4	152330	broad.mit.edu	37	3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			ACATTCACAGCGACCGTGGTG	0.498000																								0							SO:0001583	missense			ENST00000397461.1	1	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630223	0.67015	0.0	2.33E-4	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.99;0.996;0.999	P;P;D	0.66084	0.794;0.842;0.941	T	0.78974	-0.1992	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	658;659;659	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	659;659;659;440;331;331	ENSP00000396010:A659V;ENSP00000380602:A659V;ENSP00000413642:A659V;ENSP00000351267:A440V;ENSP00000380600:A331V;ENSP00000392077:A331V	ENSP00000351267:A440V	A	+	2	0	CNTN4	3053896	1.000000	0.71417	0.886000	0.34754	0.119000	0.20118	5.923000	0.70045	2.572000	0.86782	0.655000	0.94253	GCG		TCGA-XD-AAUL-01A-21D-A397-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1	132	797	0	285	0	4.792460e-01	0	11	0	285	2		0	0	0	0	0	2	1	1.000000	132	793	0	284	2		0	0	0	0	0	2	-20.000000	1	1	121412	13	46	1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.830000	7.000000e-01	0.980000	0.840000	0.839716	0.830000	0	0.760000	0.910000
TGM4	7047	broad.mit.edu	37	3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4			38				L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597000																								0							SO:0001583	missense			ENST00000296125.4	1	1	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652828	0.00785	.	.	ENSG00000163810	ENST00000296125	T	0.47177	0.85	2.69	0.475	0.16774	Transglutaminase-like (1);	3.486220	0.04860	U	0.443878	T	0.13713	0.0332	N	0.00879	-1.12	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36696	-0.9737	10	0.02654	T	1	.	1.8406	0.03149	0.2425:0.2526:0.3829:0.122	.	258	P49221	TGM4_HUMAN	K	258	ENSP00000296125:N258K	ENSP00000296125:N258K	N	+	3	2	TGM4	44918136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.024000	0.12435	0.409000	0.25649	0.563000	0.77884	AAC		TCGA-XD-AAUL-01A-21D-A397-08	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1	30	159	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	30	158	0	39	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.930000	6.500000e-01	1.000000	1.000000	0.906965	0.930000	1	0.780000	1.000000
ACTR8	93973	broad.mit.edu	37	3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)			19					GATCTGTGCTGCAAAGTCGTC	0.463000																								0							SO:0001587	stop_gained			ENST00000335754.3	0	1	hg19	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	38	6.893393	0.97916	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	.	.	.	5.87	5.87	0.94306	.	0.059585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2682	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	409;298;114	.	ENSP00000231909:Q114X	Q	-	1	0	ACTR8	53881528	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CAG		TCGA-XD-AAUL-01A-21D-A397-08	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	0	0	0	6	948	0	279	0	1.054107e-01	0	73	0	279	2		0	0	0	0	0	2	1	0.964323	6	942	0	276	2		0	0	0	0	0	2	-2.215798	0	1	0	0		1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.030000	0	0.080000	0.040000	0.042854	0.030000	0	0.010000	0.060000
PDZRN3	23024	broad.mit.edu	37	3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			TTCTCGGATGCGCCCATCCTT	0.468000																								0							SO:0001583	missense			ENST00000263666.4	0	1	hg19	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541639|5.541639	0.96474|0.96474	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71	5.43|5.43	5.43|5.43	0.79202|0.79202	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.999;0.998	D|D	0.84050|0.84050	0.0369|0.0369	5|10	.|0.87932	.|D	.|0	.|.	18.8532|18.8532	0.92241|0.92241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|185;180;180;463	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	T|H	60|463;185;120;120;180;463;161	.|ENSP00000263666:R463H;ENSP00000442026:R185H;ENSP00000418168:R120H;ENSP00000418484:R120H;ENSP00000418624:R180H;ENSP00000419250:R161H	.|ENSP00000263666:R463H	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73521685|73521685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.638000|7.638000	0.83328|0.83328	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-XD-AAUL-01A-21D-A397-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	0	0	5	305	1	93	0	1.949960e-02	0	27	1	93	3		0	0	0	0	0	2	0	0.045066	5	305	1	92	13		0	0	0	0	0	2	-2.534105	1	1	0	0		1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.100000	3.000000e-02	0.220000	0.100000	0.112614	0.100000	0	0.060000	0.160000
SETD5	55209	broad.mit.edu	37	3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000406341.1	+	15	2469	c.2279C>A	c.(2278-2280)tCa>tAa	p.S760*	SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				CGCTTTGGCTCACCCTTTATC	0.483000																								0							SO:0001587	stop_gained			ENST00000406341.1	0	1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	47	13.671043	0.99756	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0268	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	760;662;760;779;662	.	ENSP00000302028:S662X	S	+	2	0	SETD5	9465247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA		TCGA-XD-AAUL-01A-21D-A397-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	23	155	0	29	1	9.978920e-01	15	54	0	29	2		0	0	0	0	0	2	1	1.000000	23	151	0	29	2		0	0	0	0	0	2	-12.076030	1	1	0	0		1	1	2	3	2.042405	0	0.340000	1.880000	0.341120	0.760000	5.000000e-01	1.000000	1.000000	0.771524	0.760000	0	0.620000	0.920000
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000467011.1	+	11	1966	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	p.R601L(1)		25		Breast(46;0.0503)			AGCCTGTGCCGTTCACGCCGC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000467011.1	0	1	hg19	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637661	0.87760	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.79940	-1.2;-1.22;-1.23;-1.2;-1.23;-1.18;-1.32;-1.31	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.991;0.996	D	0.87975	0.2739	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	514;601;609;601	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	H	514;609;601;514;601;522;222;116	ENSP00000419073:R514H;ENSP00000371439:R609H;ENSP00000237364:R601H;ENSP00000419383:R514H;ENSP00000404812:R601H;ENSP00000417569:R522H;ENSP00000420113:R222H;ENSP00000419536:R116H	ENSP00000237364:R601H	R	+	2	0	STIM2	26628482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.877000	0.87225	2.673000	0.90976	0.650000	0.86243	CGT		TCGA-XD-AAUL-01A-21D-A397-08	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	0	0	0	7	576	0	148	0	9.125682e-02	0	36	0	148	2		0	0	0	0	0	2	1	0.979978	7	570	0	147	2		0	0	0	0	0	2	-2.058870	0	1	0	0		1	0	1	1	2.041025	0	0.340000	1.880000	0.338876	0.070000	2.000000e-02	0.140000	0.070000	0.080049	0.070000	0	0.040000	0.110000
SORCS2	57537	broad.mit.edu	37	4	7691260	7691260	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2			42					ACAACCCCTACGTATCAGGCA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000507866.2	1	1	hg19	CCDS47008.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	11	52	0	20	0	4.441971e-01	0	8	0	20	2		0	0	0	0	0	2	1	0.998606	10	51	0	20	2		0	0	0	0	0	2	-19.865620	1	1	120658	10	33	1	0	1	1	2.041025	0	0.340000	1.880000	0.338876	0.990000	5.600000e-01	1.000000	1.000000	0.917038	0.990000	1	0.770000	1.000000
PAQR3	152559	broad.mit.edu	37	4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III			8					CCATTGCTGCGTGAGGTAATT	0.458000																								0							SO:0001583	missense			ENST00000512733.1	1	1	hg19	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200601	0.38905	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.27890	1.64;1.64	5.88	5.88	0.94601	.	0.041428	0.85682	D	0.000000	T	0.29652	0.0740	L	0.42744	1.35	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.11916	-1.0568	10	0.12766	T	0.61	-1.8795	20.2187	0.98312	0.0:0.0:1.0:0.0	.	196	Q6TCH7	PAQR3_HUMAN	K	196	ENSP00000421981:T196K;ENSP00000370019:T196K	ENSP00000344203:T196K	T	-	2	0	PAQR3	80066814	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	6.142000	0.71750	2.780000	0.95670	0.655000	0.94253	ACG		TCGA-XD-AAUL-01A-21D-A397-08	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	0	0	1	92	504	0	153	1	6.984026e-01	3	12	0	153	2		0	0	0	0	0	2	1	1.000000	91	502	0	151	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.053004	0	0.340000	1.880000	0.342236	0.900000	7.400000e-01	1.000000	1.000000	0.907689	0.900000	1	0.820000	1.000000
CDH18	1016	broad.mit.edu	37	5	19839078	19839078	+	Silent	SNP	T	T	A	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000506372.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2			138	Lung NSC(1;0.00734)|all_lung(1;0.0197)				AGATGCAAGATGTGCTAGTAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000507958.1	1	1	hg19	CCDS3889.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1	43	240	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	43	238	0	80	2		0	0	0	0	0	2	-19.984070	1	1	0	0		1	1	2	3	2.047249	0	0.340000	1.880000	0.341120	0.890000	6.600000e-01	1.000000	1.000000	0.886663	0.890000	1	0.770000	1.000000
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	p.K157R(1)		21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)			AGTTTGGCCCTTTTTCAAGGT	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000314641.5	0	1	hg19	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		TCGA-XD-AAUL-01A-21D-A397-08	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	0	0	0	7	784	0	195	0	3.401753e-04	0	3	0	195	2		0	0	0	0	0	2	1	0.980380	7	781	0	194	2		0	0	0	0	0	2	-1.630750	0	1	121412	4	44	1	0	1	1	2.038517	0	0.340000	1.880000	0.338876	0.050000	1.000000e-02	0.100000	0.060000	0.059153	0.050000	0	0.030000	0.080000
HIST1H2BF	8343	broad.mit.edu	37	6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf			17		all_hematologic(11;0.196)			ATCTTCGAGCGCATCGCTGGC	0.607000																								0							SO:0001583	missense			ENST00000359985.1	0	1	hg19	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.998290	0.54147	.	.	ENSG00000197846	ENST00000359985	T	0.69561	-0.41	3.89	3.89	0.44902	.	0.000000	0.41938	D	0.000785	T	0.69504	0.3118	.	.	.	0.36868	D	0.88877	.	.	.	.	.	.	T	0.73363	-0.4006	7	0.49607	T	0.09	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000353074:R73H	ENSP00000353074:R73H	R	+	2	0	HIST1H2BF	26307983	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.733000	0.84916	2.102000	0.63906	0.650000	0.86243	CGC		TCGA-XD-AAUL-01A-21D-A397-08	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	0	0	0	7	797	0	231		0	0	0	0	231	2		0	0	0	0	0	2	1	0.980381	7	794	0	230	2		0	0	0	0	0	2	-2.134619	0	1	0	0		1	0	0	0	2.029617	0	0.340000	1.880000	0.335481	0.050000	1.000000e-02	0.100000	0.050000	0.057902	0.050000	0	0.030000	0.080000
SCAND3	0	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1						71					TTTAATGACCGCAAAAAAGTT	0.373000																								0							SO:0001583	missense			ENST00000452236.2	0	1	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		TCGA-XD-AAUL-01A-21D-A397-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0	0	0	5	340	0	77	0	3.478088e-04	0	2	0	77	2		0	0	0	0	0	2	1	0.935559	5	335	0	77	2		0	0	0	0	0	2	-2.441014	0	1	0	0		1	0	0	0	2.029617	0	0.340000	1.880000	0.335481	0.080000	2.000000e-02	0.190000	0.080000	0.100445	0.080000	0	0.050000	0.140000
CNPY4	245812	broad.mit.edu	37	7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	TAF6_ENST00000437822.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4			7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				GCAGAAGGGGGTGAAGGTGGA	0.557000																								0							SO:0001583	missense			ENST00000262932.3	0	1	hg19	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042190	0.93685	.	.	ENSG00000166997	ENST00000262932	T	0.39592	1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.64567	1.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60357	-0.7279	10	0.48119	T	0.1	-23.8167	15.1914	0.73047	0.0:0.0:1.0:0.0	.	131	Q8N129	CNPY4_HUMAN	L	131	ENSP00000262932:V131L	ENSP00000262932:V131L	V	+	1	0	CNPY4	99558391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.873000	0.87193	2.654000	0.90174	0.561000	0.74099	GTG		TCGA-XD-AAUL-01A-21D-A397-08	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	1	0	1	12	70	0	20	1	9.983425e-01	6	64	0	20	2		0	0	0	0	0	2	1	0.999362	12	70	0	20	2		0	0	0	0	0	2	-19.914910	1	1	0	0		1	1	3	4	2.642274	1	0.340000	1.880000	0.493321	0.990000	6.500000e-01	1.000000	1.000000	0.956479	0.990000	1	0.880000	1.000000
CSMD1	64478	broad.mit.edu	37	8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000520002.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			GCTGGGGATCGTGTCGTTCCA	0.592000																								0							SO:0001583	missense			ENST00000520002.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018426	0.54576	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.064322	0.64402	D	0.000010	T	0.77618	0.4157	M	0.67397	2.05	0.58432	D	0.999994	D;P;D	0.76494	0.998;0.951;0.999	P;D;D	0.66497	0.885;0.932;0.944	T	0.77877	-0.2424	10	0.52906	T	0.07	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1795;1795;1795	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1795;1795;1657;1794;1794;1794	ENSP00000383047:T1795M;ENSP00000430733:T1795M;ENSP00000441462:T1794M;ENSP00000446243:T1794M;ENSP00000441675:T1794M	ENSP00000320445:T1657M	T	-	2	0	CSMD1	3034858	1.000000	0.71417	0.951000	0.38953	0.166000	0.22503	7.369000	0.79578	2.653000	0.90120	0.544000	0.68410	ACG		TCGA-XD-AAUL-01A-21D-A397-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	0	3	49	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.812588	3	49	0	10	2		0	0	0	0	0	2	-7.431562	1	1	0	0		1	1	2	3	2.060586	0	0.340000	1.880000	0.344458	0.390000	1.100000e-01	1.000000	0.340000	0.438344	0.390000	0	0.220000	0.650000
MUSK	4593	broad.mit.edu	37	9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000374448.4	+	1	192	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					TGCCTTCAGCGGAACTGAGAA	0.438000																								0							SO:0001583	missense			ENST00000374448.4	0	1	hg19	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497875	0.44455	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73469	-0.75	5.18	3.3	0.37823	.	0.381500	0.22739	N	0.056228	T	0.58452	0.2123	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.965;0.994	B;P	0.50314	0.387;0.637	T	0.56523	-0.7965	10	0.13470	T	0.59	.	2.5396	0.04722	0.0967:0.1995:0.4509:0.2529	.	20;20	O15146;F5H6T2	MUSK_HUMAN;.	R	20	ENSP00000363571:G20R	ENSP00000189978:G20R	G	+	1	0	MUSK	112471063	0.957000	0.32711	1.000000	0.80357	0.773000	0.43773	0.060000	0.14342	1.205000	0.43262	-0.252000	0.11476	GGA		TCGA-XD-AAUL-01A-21D-A397-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	6	678	0	180		0	0	0	0	180	2		0	0	0	0	0	2	1	0.964114	6	672	0	180	2		0	0	0	0	0	2	-1.770391	0	1	120852	7	46	1	0	1	1	1.751914	1	0.340000	1.880000	0.204819	0.040000	1.000000e-02	0.090000	0.040000	0.049531	0.040000	0	0.020000	0.070000
VPS13A	23230	broad.mit.edu	37	9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)			104					GAGAAGATTGCGCATTGAAGC	0.343000																								0							SO:0001583	missense			ENST00000360280.3	0	1	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109496	0.77096	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.72505	0.79;0.88;-0.66;-0.66	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.94;0.993	T	0.78301	-0.2257	9	.	.	.	.	19.9276	0.97108	0.0:1.0:0.0:0.0	.	3090;3129	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	C	3090;3129;65;65	ENSP00000365823:R3090C;ENSP00000353422:R3129C;ENSP00000446020:R65C;ENSP00000365834:R65C	.	R	+	1	0	VPS13A	79210709	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	7.294000	0.78760	2.801000	0.96364	0.650000	0.86243	CGC		TCGA-XD-AAUL-01A-21D-A397-08	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	0	0	6	438	0	118	0	7.131742e-02	0	27	0	118	2		0	0	0	0	0	2	1	0.964721	6	436	0	117	2		0	0	0	0	0	2	-2.089206	0	1	121412	2	32	1	0	1	1	1.751914	1	0.340000	1.880000	0.204819	0.060000	2.000000e-02	0.140000	0.070000	0.075952	0.060000	0	0.040000	0.100000
HTR2C	3358	broad.mit.edu	37	X	114141583	114141583	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled			50				Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403000																								0							SO:0001583	missense			ENST00000276198.1	0	1	hg19	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525410	0.64747	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.38240	1.15;1.15	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.231260	0.43579	D	0.000553	T	0.70482	0.3229	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79804	-0.1649	10	0.87932	D	0	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	328	P28335	5HT2C_HUMAN	V	328	ENSP00000276198:F328V;ENSP00000361019:F328V	ENSP00000276198:F328V	F	+	1	0	HTR2C	114047839	1.000000	0.71417	0.985000	0.45067	0.632000	0.37999	7.934000	0.87649	1.827000	0.53221	0.381000	0.24937	TTC		TCGA-XD-AAUL-01A-21D-A397-08	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	0	0	4	329	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.890980	4	329	0	72	2		0	0	0	0	0	2	-5.101446	1	1	0	0		1	0	1	1			0.340000	1.880000	0.340000	0.030000	0	0.090000	0.040000	0.043620	0.030000	0	0.010000	0.060000
LAMP2	3920	broad.mit.edu	37	X	119575595	119575595	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000200639.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000371335.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2			15					CTGTAGAATACTTTCCTTGTG	0.343000																								0							SO:0001819	synonymous_variant			ENST00000200639.4	1	1	hg19	CCDS14599.1																																																																																				TCGA-XD-AAUL-01A-21D-A397-08	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1	1	0	1	57	125	0	45	1	1	284	258	0	45	2		0	0	0	0	0	2	1	1.000000	57	123	0	45	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1			0.340000	1.880000	0.340000	0.880000	7.100000e-01	0.990000	0.910000	0.882824	0.880000	1	0.800000	0.960000
CYLC1	1538	broad.mit.edu	37	X	83129622	83129622	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1			58					ACCTCCAAAACCAAGATATGC	0.383000																								0							SO:0001583	missense			ENST00000329312.4	1	1	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	7.831	0.719819	0.15372	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.54071	0.59	3.48	2.6	0.31112	.	.	.	.	.	T	0.48223	0.1488	L	0.34521	1.04	0.20489	N	0.999899	P;D	0.62365	0.603;0.991	B;P	0.50659	0.397;0.647	T	0.32322	-0.9911	9	0.66056	D	0.02	-4.5343	8.0054	0.30321	0.0:0.7561:0.2439:0.0	.	636;636	P35663;F5H4V5	CYLC1_HUMAN;.	T	636	ENSP00000331556:P636T	ENSP00000331556:P636T	P	+	1	0	CYLC1	83016278	0.996000	0.38824	1.000000	0.80357	0.463000	0.32649	0.517000	0.22832	0.813000	0.34350	0.513000	0.50165	CCA		TCGA-XD-AAUL-01A-21D-A397-08	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1	28	104	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	1.000000	28	103	0	17	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1			0.340000	1.880000	0.340000	0.610000	4.300000e-01	0.820000	0.620000	0.627049	0.610000	0	0.510000	0.730000
SATL1	340562	broad.mit.edu	37	X	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000395409.3	-	1	1629	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	p.R544R(1)		29					TTAATCAGTCGCAAAATTTCT	0.458000																								1	Substitution - coding silent(1)						SO:0001587	stop_gained			ENST00000395409.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.626167	0.97714	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	3.54	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7275	9.2535	0.37568	0.0:0.0:0.7766:0.2234	.	.	.	.	X	357;357;544	.	ENSP00000329115:R357X	R	-	1	2	SATL1	84249001	0.291000	0.24352	0.213000	0.23690	0.003000	0.03518	3.144000	0.50616	0.828000	0.34709	0.506000	0.49869	CGA		TCGA-XD-AAUL-01A-21D-A397-08	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	4	231	0	60		0	0	0	0	60	2		0	0	0	0	0	2	1	0.890128	4	230	0	58	2		0	0	0	0	0	2	-3.293818	1	1	0	0		1	0	1	1			0.340000	1.880000	0.340000	0.050000	1.000000e-02	0.120000	0.050000	0.061528	0.050000	0	0.020000	0.090000
