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
HIP1R	9026	broad.mit.edu	37	12	123333155	123333170	+	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:123333155_123333170delTGTGAGTAGCAGCTGC	ENST00000253083.4	+	3	425	c.300delTGTGAGTAGCAGCTGC	c.(298-300)aat>aa	p.N100fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related			26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GGCACCCCAATGTGAGTAGCAGCTGCTGCCTCTGCT	0.662000																								0							SO:0001630	splice_region_variant			ENST00000253083.4	1	1	hg19	CCDS31922.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	0	0	0	17	180	0	80	0	6.571390e-01	0	25	0	80	2	0	0	0	0	0	0		1	0.657441	38	200	3	80	19	0	0	0	0	0	0		-19.999570	1	1	0	0		1	0	2	2	1.790666	1	0.330000	3.010000	0.330000	0.530000	3.200000e-01	1.000000	0.520000	0.564014	0.530000	0	4.200000e-01	6.900000e-01
HELB	92797	broad.mit.edu	37	12	66709127	66709128	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:66709127_66709128insA	ENST00000247815.4	+	6	2023_2024	c.1964_1965insA	c.(1963-1968)agagcafs	p.A656fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B			40			GBM - Glioblastoma multiforme(2;0.000142)		ACAAACCATAGAGCAGAATCTC	0.342000																								0							SO:0001589	frameshift_variant			ENST00000247815.4	0	1	hg19	CCDS8976.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1	1	0	0	54	627	0	164			0	0	0	164		0	0	0	0	0	0		1	1.000000	54	616	0	160	2	0	0	0	0	0	0		-2.966611	1	1	0	0		1	1	2	3	1.998260	1	0.330000	3.010000	0.424077	0.550000	4.200000e-01	0.720000	0.560000	0.566635	0.550000	0	4.800000e-01	6.400000e-01
WDFY3	23001	broad.mit.edu	37	4	85678099	85678099	+	Frame_Shift_Del	DEL	G	G	-	rs138292353		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:85678099delG	ENST00000295888.4	-	33	5811	c.5404delC	c.(5404-5406)cggfs	p.R1802fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.R1802fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3			134		Hepatocellular(203;0.114)			TGCTTACTCCGGCAGCTGATG	0.488000																								0							SO:0001589	frameshift_variant			ENST00000295888.4	0	1	hg19	CCDS3609.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	1	0	0	75	924	0	248			0	0	0	248		0	0	0	0	0	0		1	0.999961	83	918	5	244	36	0	0	0	0	0	0		-3.221883	1	1	0	0		1	1	2	3	1.943468	0	0.330000	3.010000	0.410704	0.520000	4.100000e-01	1.000000	0.510000	0.585698	0.520000	0	4.600000e-01	6.400000e-01
SP4	6671	broad.mit.edu	37	7	21469543	21469544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:21469543_21469544insT	ENST00000222584.3	+	3	978_979	c.760_761insT	c.(760-762)gtafs	p.V254fs		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor			35					GGCTCAAGTTGTAACAACCCTA	0.500000																								0							SO:0001589	frameshift_variant			ENST00000222584.3	0	1	hg19	CCDS5373.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	1	0	0	46	365	0	114			0	0	0	114		0	0	0	0	0	0		1	1.000000	49	363	0	114	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	3	4	2.209617	1	0.330000	3.010000	0.480781	0.890000	6.600000e-01	1.000000	1.000000	0.886725	0.890000	1	7.600000e-01	1
LZTS2	84445	broad.mit.edu	37	10	102763860	102763860	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:102763860C>T	ENST00000370220.1	+	2	4068	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	LZTS2_ENST00000370223.3_Silent_p.D335D					leucine zipper, putative tumor suppressor 2			22					AGCTCCGAGACCGGGAGGCAG	0.632000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001819	synonymous_variant			ENST00000370220.1	1	1	hg19	CCDS7507.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	0	0	0	9	246	0	86	1	9.851449e-01	10	192	0	86	2		0	0	0	0	0	2	1	0.993925	9	241	0	85	2	0	0	0	0	0	0		-10.580220	1	1	0	0		1	2	2	4	2.031040	0	0.330000	3.010000	0.436074	0.300000	1.300000e-01	1.000000	0.250000	0.450094	0.300000	0	2.000000e-01	1
ATE1	11101	broad.mit.edu	37	10	123503198	123503198	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:123503198G>A	ENST00000224652.6	-	12	1639	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000540606.1_Silent_p.N511N|ATE1_ENST00000543447.1_Silent_p.N403N|ATE1_ENST00000369043.3_Silent_p.N518N|ATE1_ENST00000535655.1_Silent_p.N219N	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1			14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)			GAACAGGTCAGTTTCTGAACA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000224652.6	1	1	hg19	CCDS31300.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	11	183	0	36	0	8.528621e-02	0	8	0	36	2		0	0	0	0	0	2	1	0.998391	11	181	0	36	2	0	0	0	0	0	0		-14.619200	1	1	0	0		1	2	2	4	2.031040	0	0.330000	3.010000	0.436074	0.470000	2.300000e-01	1.000000	0.400000	0.571444	0.470000	0	3.300000e-01	1
CALCA	796	broad.mit.edu	37	11	14991575	14991575	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:14991575C>T	ENST00000486207.1	-	2	141	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CALCA_ENST00000361010.3_Missense_Mutation_p.D45N|CALCA_ENST00000396372.2_Missense_Mutation_p.D45N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N|CALCA_ENST00000331587.4_Missense_Mutation_p.D45N			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha			8					CGCGCTTCGTCCTCACTGAGC	0.647000											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000486207.1	1	1	hg19	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460413	0.43736	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.83	3.86	0.44501	.	0.545783	0.21140	N	0.079485	T	0.14313	0.0346	L	0.31926	0.97	0.80722	D	1	B;B	0.27316	0.175;0.084	B;B	0.27170	0.052;0.077	T	0.08472	-1.0720	10	0.30078	T	0.28	-17.1724	6.4121	0.21696	0.2889:0.6144:0.0:0.0967	.	45;45	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	N	45	ENSP00000417833:D45N;ENSP00000354286:D45N;ENSP00000352663:D45N;ENSP00000331746:D45N;ENSP00000379657:D45N	ENSP00000331746:D45N	D	-	1	0	CALCA	14948151	0.968000	0.33430	0.098000	0.21074	0.081000	0.17604	2.326000	0.43849	1.312000	0.45043	0.655000	0.94253	GAC		TCGA-LB-A8F3-01A-11D-A36O-08	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	1	0	1	46	114	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	46	112	0	29	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	3	3	2.028607	1	0.330000	3.010000	0.421616	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:44286499C>G	ENST00000329255.3	-	4	1244	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4			16					CCGTTGAGCTCGTAGCCATTG	0.652000																								0							SO:0001583	missense			ENST00000329255.3	1	1	hg19	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455312	0.84209	.	.	ENSG00000052850	ENST00000329255	D	0.90563	-2.69	5.19	5.19	0.71726	.	0.059235	0.64402	D	0.000002	D	0.90903	0.7141	L	0.46157	1.445	0.42428	D	0.992668	D	0.53312	0.959	P	0.54759	0.76	D	0.89026	0.3438	10	0.28530	T	0.3	.	13.9861	0.64337	0.1515:0.8485:0.0:0.0	.	381	Q9H161	ALX4_HUMAN	Q	381	ENSP00000332744:E381Q	ENSP00000332744:E381Q	E	-	1	0	ALX4	44243075	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.538000	0.67193	2.575000	0.86900	0.561000	0.74099	GAG		TCGA-LB-A8F3-01A-11D-A36O-08	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1	0	0	0	15	356	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	0.999868	14	353	0	93	2	0	0	0	0	0	0		-3.094407	1	1	121380	1	32	1	1	3	4	2.093733	1	0.330000	3.010000	0.451314	0.330000	1.800000e-01	1.000000	0.300000	0.462232	0.330000	0	2.400000e-01	1
OR8K1	390157	broad.mit.edu	37	11	56113884	56113884	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:56113884A>G	ENST00000279783.2	+	1	464	c.370A>G	c.(370-372)Atg>Gtg	p.M124V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1			33	Esophageal squamous(21;0.00448)				TCTATCAGCAATGGCCTATGA	0.403000										HNSCC(65;0.19)														0							SO:0001583	missense			ENST00000279783.2	1	1	hg19	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528822	0.64860	.	.	ENSG00000150261	ENST00000279783	T	0.00995	5.46	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.04227	0.0117	H	0.94964	3.605	0.45216	D	0.99822	P	0.51537	0.946	P	0.44647	0.456	T	0.08700	-1.0709	10	0.87932	D	0	-28.0834	14.7062	0.69191	1.0:0.0:0.0:0.0	.	124	Q8NGG5	OR8K1_HUMAN	V	124	ENSP00000279783:M124V	ENSP00000279783:M124V	M	+	1	0	OR8K1	55870460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	1.862000	0.54008	0.448000	0.29417	ATG		TCGA-LB-A8F3-01A-11D-A36O-08	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	1	0	1	245	796	0	313		0	0	0	0	313	2		0	0	0	0	0	2	1	1.000000	244	783	0	313	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	3	4	2.093733	1	0.330000	3.010000	0.451314	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:2566843G>A	ENST00000347598.4	+	5	728	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCGTGCTGCGCCCCCTGCGG	0.562000																								0							SO:0001583	missense			ENST00000347598.4	1	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834960	0.91036	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.15	4.15	0.48705	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99965	5.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.996;1.0;0.997;0.998;0.993;0.998;1.0;1.0;0.998;0.994;0.998;1.0;0.998;1.0;0.989;0.998;0.998;0.993;0.993	D	0.95822	0.8850	10	0.87932	D	0	.	16.6608	0.85240	0.0:0.0:1.0:0.0	.	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;84	ENSP00000336982:R243H;ENSP00000382563:R243H;ENSP00000437936:R243H;ENSP00000382552:R243H;ENSP00000382547:R243H;ENSP00000382506:R243H;ENSP00000382530:R243H;ENSP00000382546:R243H;ENSP00000382500:R243H;ENSP00000382549:R243H;ENSP00000266376:R243H;ENSP00000382515:R243H;ENSP00000382510:R243H;ENSP00000341092:R243H;ENSP00000382537:R243H;ENSP00000329877:R243H;ENSP00000382557:R243H;ENSP00000385724:R243H;ENSP00000382512:R243H;ENSP00000382542:R243H;ENSP00000382526:R243H;ENSP00000385896:R243H;ENSP00000382504:R243H	ENSP00000323129:R84H	R	+	2	0	CACNA1C	2437104	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	9.542000	0.98086	2.139000	0.66308	0.563000	0.77884	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	0	0	0	66	1002	1	366		0	0	0	1	366	2		0	0	0	0	0	2	1	1.000000	65	981	1	361	12	0	0	0	0	0	0		-9.918375	1	1	0	0		1	2	2	4	2.238903	1	0.330000	3.010000	0.488628	0.490000	3.700000e-01	1.000000	0.500000	0.520366	0.490000	0	4.300000e-01	5.700000e-01
TSPAN11	441631	broad.mit.edu	37	12	31116773	31116773	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:31116773G>T	ENST00000261177.9	+	3	156	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S|TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11			11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)				CGGGGGAGCAGCCGTCCTGGC	0.662000																								0							SO:0001583	missense			ENST00000261177.9	1	1	hg19	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999666	0.35320	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.80738	-1.41;-1.41;-1.41	3.5	2.6	0.31112	.	0.149427	0.43919	U	0.000512	T	0.79112	0.4391	M	0.76328	2.33	0.20489	N	0.999896	P;B	0.35155	0.487;0.083	B;B	0.39465	0.3;0.177	T	0.68977	-0.5267	10	0.41790	T	0.15	.	8.7712	0.34733	0.1194:0.0:0.8806:0.0	.	23;33	F5H0F0;A1L157	.;TSN11_HUMAN	S	33;23;33	ENSP00000437403:A33S;ENSP00000439895:A23S;ENSP00000261177:A33S	ENSP00000261177:A33S	A	+	1	0	TSPAN11	31008040	0.999000	0.42202	0.004000	0.12327	0.645000	0.38454	6.020000	0.70826	0.571000	0.29365	0.457000	0.33378	GCC		TCGA-LB-A8F3-01A-11D-A36O-08	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	0	0	0	9	332	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	0.993981	9	327	0	94	2	0	0	0	0	0	0		-9.287503	1	1	0	0		1	2	2	4	2.302934	1	0.330000	3.010000	0.496241	0.220000	1.000000e-01	0.380000	0.200000	0.234310	0.220000	0	1.500000e-01	3.000000e-01
KCNA6	3742	broad.mit.edu	37	12	4920759	4920759	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:4920759C>T	ENST00000280684.3	+	1	2418	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R518W			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6			49				Dalfampridine(DB06637)	TACACCACATCGGGCCTATGC	0.597000										HNSCC(72;0.22)														0							SO:0001583	missense			ENST00000280684.3	1	1	hg19	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935726	0.34189	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97553	-4.43;-4.43	4.97	4.01	0.46588	.	0.394655	0.23474	N	0.047785	D	0.95027	0.8390	N	0.19112	0.55	0.31860	N	0.62104	D	0.76494	0.999	P	0.53809	0.735	D	0.93607	0.6935	10	0.31617	T	0.26	.	14.9663	0.71196	0.1522:0.8478:0.0:0.0	.	518	P17658	KCNA6_HUMAN	W	518	ENSP00000408321:R518W;ENSP00000280684:R518W	ENSP00000280684:R518W	R	+	1	2	KCNA6	4791020	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.194000	0.65125	2.578000	0.87016	0.655000	0.94253	CGG		TCGA-LB-A8F3-01A-11D-A36O-08	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	0	0	12	337	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	0.999124	12	336	0	106	2	0	0	0	0	0	0		-3.291887	1	1	0	0		1	2	2	4	2.238903	1	0.330000	3.010000	0.488628	0.280000	1.400000e-01	1.000000	0.270000	0.326409	0.280000	0	2.100000e-01	3.900000e-01
KRT74	121391	broad.mit.edu	37	12	52964517	52964517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:52964517C>T	ENST00000305620.2	-	5	991	c.944G>A	c.(943-945)cGc>cAc	p.R315H	KRT74_ENST00000549343.1_Missense_Mutation_p.R315H	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74			28					ATAATGCATGCGGACCTCAGC	0.592000																								0							SO:0001583	missense			ENST00000305620.2	0	1	hg19	CCDS8832.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.276	1.046988	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.93307	-3.2;-3.2	4.49	3.56	0.40772	Filament (1);	0.000000	0.34291	N	0.004087	D	0.93973	0.8070	H	0.95187	3.635	0.09310	N	1	P	0.36633	0.562	B	0.36186	0.219	D	0.90228	0.4277	10	0.87932	D	0	.	6.036	0.19708	0.0:0.6265:0.0:0.3735	.	315	Q7RTS7	K2C74_HUMAN	H	315	ENSP00000447447:R315H;ENSP00000307240:R315H	ENSP00000307240:R315H	R	-	2	0	KRT74	51250784	0.000000	0.05858	0.644000	0.29465	0.067000	0.16453	-0.672000	0.05244	1.137000	0.42214	0.655000	0.94253	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	0	0	0	5	217	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	0.936758	5	215	0	83	2	0	0	0	0	0	0		-2.557965	1	1	121412	1	34	1	1	2	3	2.012148	1	0.330000	3.010000	0.420791	0.170000	6.000000e-02	1.000000	0.150000	0.217510	0.170000	0	1.000000e-01	2.700000e-01
MTMR6	9107	broad.mit.edu	37	13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:25826043C>T	ENST00000381801.5	-	12	2187	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6			36		Lung SC(185;0.0225)|Breast(139;0.0351)			CTGTGAGATTCGGAACTGTAG	0.328000																								0							SO:0001583	missense			ENST00000381801.5	0	1	hg19	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	3.298	-0.143515	0.06627	0.0	1.16E-4	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.90133	-2.62;-2.62	5.63	-5.02	0.02982	Myotubularin phosphatase domain (1);	0.741247	0.14353	N	0.324976	T	0.78130	0.4235	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.65717	-0.6100	10	0.07030	T	0.85	.	7.079	0.25221	0.0:0.2984:0.3046:0.397	.	476;476	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	476;476;476;44	ENSP00000443161:E476K;ENSP00000371221:E476K	ENSP00000317987:E44K	E	-	1	0	MTMR6	24724043	0.000000	0.05858	0.002000	0.10522	0.740000	0.42216	-0.079000	0.11357	-0.861000	0.04094	-0.385000	0.06624	GAA		TCGA-LB-A8F3-01A-11D-A36O-08	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	0	0	0	16	1042	1	293	0	1.586151e-02	0	12	1	293	2		0	0	0	0	0	2	1	0.690666	14	1026	1	288	14	0	0	0	0	0	0		-2.034964	0	1	121402	7	42	1	1	2	3	1.973208	1	0.330000	3.010000	0.418302	0.100000	5.000000e-02	1.000000	0.110000	0.168968	0.100000	0	7.000000e-02	1.500000e-01
KBTBD6	89890	broad.mit.edu	37	13	41705888	41705888	+	Missense_Mutation	SNP	G	G	A	rs61999308		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:41705888G>A	ENST00000379485.1	-	1	994	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6			43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)			CTGGGACCCCGCTCTTTGGGA	0.582000																								0							SO:0001583	missense			ENST00000379485.1	1	1	hg19	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	15.36	2.811259	0.50527	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.74209	-0.82;-0.82	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.227860	0.29980	N	0.010714	D	0.84479	0.5481	M	0.84326	2.69	0.38841	D	0.956059	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	D	0.86451	0.1773	10	0.87932	D	0	.	8.6734	0.34165	0.0:0.0:0.7723:0.2277	.	188;254	F5GZN7;Q86V97	.;KBTB6_HUMAN	W	254;188	ENSP00000368799:R254W;ENSP00000444326:R188W	ENSP00000368799:R254W	R	-	1	2	KBTBD6	40603888	0.465000	0.25815	0.999000	0.59377	0.991000	0.79684	0.528000	0.23002	2.065000	0.61736	0.462000	0.41574	CGG		TCGA-LB-A8F3-01A-11D-A36O-08	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	1	0	1	102	278	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	100	278	1	125	12	0	0	0	0	0	0		-2.341083	0	1	0	0		1	1	2	3	1.973208	1	0.330000	3.010000	0.418302	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK9	23348	broad.mit.edu	37	13	99566593	99566593	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:99566593C>T	ENST00000376460.1	-	9	1029	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9			59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				TTGGCAAGTTCCGGCAGGTAG	0.393000																								0							SO:0001583	missense			ENST00000376460.1	0	1	hg19	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243118	0.79912	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.20598	2.41;2.49;2.06;2.06	6.16	6.16	0.99307	.	0.695998	0.14892	N	0.292369	T	0.29620	0.0739	M	0.68317	2.08	0.54753	D	0.999985	B;B;B;B;B	0.22983	0.038;0.032;0.078;0.004;0.008	B;B;B;B;B	0.23018	0.043;0.013;0.013;0.018;0.01	T	0.04840	-1.0923	9	.	.	.	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	318;317;317;317;318	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	K	317;318;318;318;317;318;329;317	ENSP00000365643:E317K;ENSP00000341086:E318K;ENSP00000401958:E329K;ENSP00000406883:E317K	.	E	-	1	0	DOCK9	98364594	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.097000	0.64542	2.937000	0.99478	0.650000	0.86243	GAA		TCGA-LB-A8F3-01A-11D-A36O-08	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	0	0	0	6	56	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	0.967542	6	56	0	20	2	0	0	0	0	0	0		-11.503030	1	1	0	0		1	2	2	4	2.236121	1	0.330000	3.010000	0.487336	0.830000	3.500000e-01	1.000000	1.000000	0.798564	0.830000	0	5.500000e-01	1
ACIN1	22985	broad.mit.edu	37	14	23528647	23528647	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:23528647T>G	ENST00000262710.1	-	19	4063	c.3736A>C	c.(3736-3738)Aag>Cag	p.K1246Q	ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1			37	all_cancers(95;1.36e-05)				tcccgctccttGGCCCGTTCG	0.582000																								0							SO:0001583	missense			ENST00000262710.1	1	1	hg19	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476246	0.44044	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.18	4.18	0.49190	.	0.336627	0.21615	N	0.071728	T	0.33933	0.0880	L	0.29908	0.895	0.42293	D	0.992148	P;P;P;P;P	0.51351	0.944;0.906;0.906;0.476;0.476	P;B;B;B;B	0.47470	0.548;0.346;0.346;0.071;0.071	T	0.03795	-1.1003	10	0.23302	T	0.38	-11.8368	9.4065	0.38464	0.0:0.0:0.1791:0.8209	.	1233;1246;1206;519;488	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Q	487;519;488;1246;1206;488;1233	ENSP00000451138:K487Q;ENSP00000345541:K519Q;ENSP00000350073:K488Q;ENSP00000262710:K1246Q;ENSP00000405677:K1206Q;ENSP00000380502:K488Q;ENSP00000451328:K1233Q	ENSP00000262710:K1246Q	K	-	1	0	ACIN1	22598487	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.190000	0.58365	1.881000	0.54492	0.379000	0.24179	AAG		TCGA-LB-A8F3-01A-11D-A36O-08	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	1	0	1	55	180	0	69	1	1	224	134	0	69	2		0	0	0	0	0	2	1	1.000000	55	174	0	67	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.729271	1	0.330000	3.010000	0.330000	0.990000	9.900000e-01	1.000000	1.000000	0.999879	0.990000	1	9.900000e-01	1
AMFR	267	broad.mit.edu	37	16	56401435	56401435	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:56401435G>A	ENST00000290649.5	-	12	1730	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase			17					GATGCTATCTGACCGCTGGAA	0.498000													Pancreas(2;144 323 39528)											0							SO:0001583	missense			ENST00000290649.5	1	1	hg19	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241135	0.39598	.	.	ENSG00000159461	ENST00000290649	T	0.14266	2.52	5.8	5.8	0.92144	.	0.647010	0.15443	N	0.262073	T	0.15825	0.0381	L	0.44542	1.39	0.39616	D	0.96996	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.07424	-1.0773	10	0.27785	T	0.31	-7.4232	18.2436	0.89977	0.0:0.0:1.0:0.0	.	507;156	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	L	507	ENSP00000290649:S507L	ENSP00000290649:S507L	S	-	2	0	AMFR	54958936	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.726000	0.61986	2.735000	0.93741	0.655000	0.94253	TCA		TCGA-LB-A8F3-01A-11D-A36O-08	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2	0	0	0	25	1016	0	325	1	6.526957e-01	2	89	0	325	2		0	0	0	0	0	2	1	1.000000	26	987	0	321	2	0	0	0	0	0	0		-2.558441	1	1	0	0		1	1	2	3	1.989453	0	0.330000	3.010000	0.382943	0.170000	1.000000e-01	1.000000	0.150000	0.366231	0.170000	0	1.300000e-01	1
NLRC5	84166	broad.mit.edu	37	16	57075463	57075463	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:57075463C>G	ENST00000262510.6	+	18	3231	c.3006C>G	c.(3004-3006)tgC>tgG	p.C1002W	NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W|NLRC5_ENST00000436936.1_Missense_Mutation_p.C1002W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5			75		all_neural(199;0.225)			GAGGAAGCTGCCACCTCGGTC	0.552000																								0							SO:0001583	missense			ENST00000262510.6	1	1	hg19	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.80|11.80	1.746925|1.746925	0.30955|0.30955	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54479|.	0.57;0.57;0.57;0.57;0.57;0.57|.	3.98|3.98	-2.66|-2.66	0.06077|0.06077	.|.	1.053610|.	0.07584|.	N|.	0.920873|.	T|T	0.38081|0.38081	0.1027|0.1027	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.57571|.	0.966;0.972;0.98;0.978|.	P;P;P;P|.	0.56474|.	0.62;0.697;0.706;0.799|.	T|T	0.40403|0.40403	-0.9565|-0.9565	10|5	0.49607|.	T|.	0.09|.	.|.	4.9157|4.9157	0.13844|0.13844	0.0:0.3487:0.1617:0.4897|0.0:0.3487:0.1617:0.4897	.|.	1002;1002;1002;1002|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	W|A	1002;1002;1002;476;1002;509;301|755	ENSP00000262510:C1002W;ENSP00000308886:C1002W;ENSP00000389739:C1002W;ENSP00000441727:C1002W;ENSP00000441597:C509W;ENSP00000440153:C301W|.	ENSP00000262510:C1002W|.	C|P	+|+	3|1	2|0	NLRC5|NLRC5	55632964|55632964	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.263000|0.263000	0.26337|0.26337	-0.740000|-0.740000	0.04861|0.04861	-0.493000|-0.493000	0.06678|0.06678	-0.136000|-0.136000	0.14681|0.14681	TGC|CCA		TCGA-LB-A8F3-01A-11D-A36O-08	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	1	0	1	28	178	0	52	1	7.252738e-01	9	9	0	52	2		0	0	0	0	0	2	1	1.000000	25	176	0	52	2	0	0	0	0	0	0		-3.323170	1	1	0	0		1	1	2	3	1.989453	0	0.330000	3.010000	0.382943	0.960000	6.300000e-01	1.000000	1.000000	0.910081	0.960000	1	7.700000e-01	1
TMEM104	54868	broad.mit.edu	37	17	72832228	72832228	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:72832228C>G	ENST00000335464.5	+	10	1055	c.893C>G	c.(892-894)tCc>tGc	p.S298C	TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104			19	all_lung(278;0.23)				ACCCCCGTCTCCTCCAAGCGC	0.622000																								0							SO:0001583	missense			ENST00000335464.5	1	1	hg19	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870313	0.72065	.	.	ENSG00000109066	ENST00000335464	T	0.02369	4.32	5.21	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00482	-1.1713	10	0.72032	D	0.01	-45.754	13.9219	0.63937	0.0:0.9256:0.0:0.0744	.	298	Q8NE00	TM104_HUMAN	C	298	ENSP00000334849:S298C	ENSP00000334849:S298C	S	+	2	0	TMEM104	70343823	1.000000	0.71417	0.949000	0.38748	0.895000	0.52256	7.384000	0.79751	1.319000	0.45190	0.561000	0.74099	TCC		TCGA-LB-A8F3-01A-11D-A36O-08	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	1	0	0	32	287	0	126	0	2.751977e-01	1	9	0	126	2		0	0	0	0	0	2	1	1.000000	31	280	0	125	2	0	0	0	0	0	0		-3.318794	1	1	0	0		1	1	3	4	2.174750	1	0.330000	3.010000	0.474056	0.800000	5.500000e-01	1.000000	1.000000	0.815025	0.800000	0	6.600000e-01	1
TLE2	7089	broad.mit.edu	37	19	3002419	3002419	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:3002419C>T	ENST00000262953.6	-	18	2241	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	TLE2_ENST00000426948.2_Missense_Mutation_p.R674H|TLE2_ENST00000447365.2_Missense_Mutation_p.R327H|TLE2_ENST00000455444.2_Missense_Mutation_p.R538H|TLE2_ENST00000443826.3_Missense_Mutation_p.R538H|TLE2_ENST00000590536.1_Missense_Mutation_p.R661H|TLE2_ENST00000591529.1_Missense_Mutation_p.R674H|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2			13					CTCCGGCTTGCGGACGTGCAG	0.617000																								0							SO:0001583	missense			ENST00000262953.6	0	1	hg19	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115899	0.37339	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	3.79	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.130101	0.52532	D	0.000070	T	0.07999	0.0200	N	0.04880	-0.145	0.35702	D	0.815685	D;P;B;D;D	0.56287	0.975;0.859;0.102;0.975;0.975	B;B;B;P;P	0.45232	0.375;0.172;0.13;0.474;0.474	T	0.20806	-1.0264	10	0.87932	D	0	-10.9012	9.5891	0.39534	0.0:0.7853:0.2147:0.0	.	538;327;674;538;660	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	H	660;538;209;654;327;538;674	ENSP00000262953:R660H;ENSP00000413107:R538H;ENSP00000406523:R327H;ENSP00000392427:R538H;ENSP00000392869:R674H	ENSP00000262953:R660H	R	-	2	0	TLE2	2953419	0.999000	0.42202	0.973000	0.42090	0.829000	0.46940	3.176000	0.50863	2.128000	0.65567	0.455000	0.32223	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	0	0	0	5	103	0	40	0	9.942826e-01	1	223	0	40	2		0	0	0	0	0	2	1	0.937529	4	103	0	40	2	0	0	0	0	0	0		-7.998348	1	0	121276	7	24	1	1	2	3	1.978307	0	0.330000	3.010000	0.409848	0.370000	1.300000e-01	1.000000	0.310000	0.457875	0.370000	0	2.300000e-01	7.100000e-01
ANKRD27	84079	broad.mit.edu	37	19	33134064	33134064	+	Silent	SNP	A	A	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:33134064A>T	ENST00000306065.4	-	9	905	c.747T>A	c.(745-747)ctT>ctA	p.L249L	ANKRD27_ENST00000587352.1_Silent_p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)			42	Esophageal squamous(110;0.137)				CTTTCTGCTGAAGATCTTGAA	0.473000																								0							SO:0001819	synonymous_variant			ENST00000306065.4	1	1	hg19	CCDS32986.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	0	0	0	14	411	0	133	0	1.212377e-02	0	5	0	133	2		0	0	0	0	0	2	1	0.999739	14	405	0	132	2	0	0	0	0	0	0		-13.726990	1	1	0	0		1	1	2	3	1.930400	0	0.330000	3.010000	0.407263	0.240000	1.300000e-01	1.000000	0.220000	0.359604	0.240000	0	1.800000e-01	4.400000e-01
ANKRD24	170961	broad.mit.edu	37	19	4216640	4216640	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:4216640G>A	ENST00000600132.1	+	18	1759	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24			21					TCTCCGGGCCGAGTTTGACCA	0.607000																								0							SO:0001583	missense			ENST00000600132.1	1	1	hg19	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.362717	0.82353	0.0	1.2E-4	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.71817	0.38;-0.6	4.6	4.6	0.57074	.	0.000000	0.34460	N	0.003942	T	0.75213	0.3819	L	0.29908	0.895	0.45415	D	0.998398	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.74968	-0.3483	10	0.39692	T	0.17	-25.7121	14.5191	0.67840	0.0:0.0:1.0:0.0	.	495;585	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	K	495;585	ENSP00000321731:E495K;ENSP00000262970:E585K	ENSP00000262970:E585K	E	+	1	0	ANKRD24	4167640	1.000000	0.71417	0.899000	0.35326	0.825000	0.46686	5.855000	0.69510	2.288000	0.76882	0.313000	0.20887	GAG		TCGA-LB-A8F3-01A-11D-A36O-08	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	1	0	1	7	43	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	0.980586	7	41	0	21	2	0	0	0	0	0	0		-14.172920	1	1	120914	9	38	1	1	2	3	1.978307	0	0.330000	3.010000	0.409848	0.990000	4.700000e-01	1.000000	1.000000	0.899468	0.990000	1	7.200000e-01	1
TEAD2	8463	broad.mit.edu	37	19	49845730	49845730	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:49845730T>A	ENST00000311227.2	-	11	1285	c.1195A>T	c.(1195-1197)Atg>Ttg	p.M399L	TEAD2_ENST00000377214.4_Missense_Mutation_p.M402L|TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L|TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L|TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2			29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)			ACGCTGTTCATCATGTATCGC	0.587000																								0							SO:0001583	missense			ENST00000311227.2	1	1	hg19	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341581	0.81911	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.33438	1.41;1.41;1.41	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.30510	0.0767	L	0.49571	1.57	0.80722	D	1	B;B;B	0.16396	0.003;0.017;0.0	B;B;B	0.27608	0.01;0.081;0.002	T	0.21143	-1.0254	10	0.87932	D	0	-25.0067	11.3375	0.49513	0.0:0.0:0.0:1.0	.	271;399;402	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	399;402;271	ENSP00000310701:M399L;ENSP00000366419:M402L;ENSP00000437928:M271L	ENSP00000310701:M399L	M	-	1	0	TEAD2	54537542	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.971000	0.88012	1.730000	0.51580	0.496000	0.49642	ATG		TCGA-LB-A8F3-01A-11D-A36O-08	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	1	0	1	27	286	0	100	1	9.999419e-01	36	128	0	100	2		0	0	0	0	0	2	1	1.000000	26	280	0	100	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	1.929141	0	0.330000	3.010000	0.412410	0.610000	4.100000e-01	1.000000	0.600000	0.657595	0.610000	0	5.000000e-01	8.100000e-01
ACTL9	284382	broad.mit.edu	37	19	8807880	8807880	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:8807880C>T	ENST00000324436.3	-	1	1292	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					CTGGAAGGCGCGCAGGGAGGC	0.652000																								0							SO:0001583	missense			ENST00000324436.3	1	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	12.78	2.040034	0.35989	.	.	ENSG00000181786	ENST00000324436	T	0.07800	3.16	4.51	2.32	0.28847	.	0.317190	0.22565	U	0.058402	T	0.05456	0.0144	N	0.20845	0.615	0.25834	N	0.984134	B	0.25521	0.128	B	0.23419	0.046	T	0.30650	-0.9971	10	0.87932	D	0	.	7.217	0.25965	0.0:0.5778:0.3287:0.0934	.	391	Q8TC94	ACTL9_HUMAN	H	391	ENSP00000316674:R391H	ENSP00000316674:R391H	R	-	2	0	ACTL9	8668880	0.005000	0.15991	0.279000	0.24732	0.748000	0.42578	0.594000	0.24014	0.592000	0.29728	0.457000	0.33378	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	36	221	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	36	219	0	69	2	0	0	0	0	0	0		-3.322053	1	1	121402	1	32	1	1	2	3	1.944477	0	0.330000	3.010000	0.414105	0.990000	7.100000e-01	1.000000	1.000000	0.939070	0.990000	1	8.400000e-01	1
CD1B	910	broad.mit.edu	37	1	158299919	158299919	+	Splice_Site	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:158299919G>A	ENST00000368168.3	-	3	437	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule			30	all_hematologic(112;0.0378)				TCTCAAAGGGGTCTATGTAGA	0.428000																								0							SO:0001630	splice_region_variant			ENST00000368168.3	0	1	hg19	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	1.531	-0.544230	0.04024	.	.	ENSG00000158485	ENST00000451207	.	.	.	4.45	-3.42	0.04825	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.38491	D	0.947979	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	.	5.1937	0.15225	0.5354:0.0:0.3163:0.1484	.	.	.	.	S	78	.	.	P	-	1	0	CD1B	156566543	0.141000	0.22595	0.289000	0.24876	0.417000	0.31264	-1.396000	0.02513	-0.854000	0.04131	0.655000	0.94253	CCC		TCGA-LB-A8F3-01A-11D-A36O-08	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	0	0	0	34	1296	0	215		0	0	0	0	215	2		0	0	0	0	0	2	1	1.000000	31	1274	0	213	2	0	0	0	0	0	0		-3.315004	1	1	121408	5	40	1	2	9	11	3.398783	1	0.330000	3.010000	0.661633	0.320000	1.900000e-01	1.000000	0.320000	0.463680	0.320000	0	2.500000e-01	1
MAEL	84944	broad.mit.edu	37	1	166987189	166987189	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:166987189G>A	ENST00000367872.4	+	10	1278	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R314H	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer			28					GATGCAGGGCGTTACCAGGTA	0.443000																								0							SO:0001583	missense			ENST00000367872.4	0	1	hg19	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356516	0.61293	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.60040	0.22;0.27;0.6	5.69	4.76	0.60689	.	0.000000	0.64402	D	0.000015	T	0.32071	0.0817	L	0.29908	0.895	0.44816	D	0.997822	D;P	0.57257	0.979;0.954	B;B	0.42995	0.328;0.404	T	0.20571	-1.0271	10	0.46703	T	0.11	.	11.9142	0.52755	0.0:0.0:0.8258:0.1742	.	314;345	E9JVC3;Q96JY0	.;MAEL_HUMAN	H	345;314;314;67	ENSP00000356846:R345H;ENSP00000356844:R314H;ENSP00000402143:R314H	ENSP00000356844:R314H	R	+	2	0	MAEL	165253813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.141000	0.64814	1.381000	0.46364	0.555000	0.69702	CGT		TCGA-LB-A8F3-01A-11D-A36O-08	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	0	0	0	14	716	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	0.999721	14	703	0	97	2	0	0	0	0	0	0		-2.786466	1	1	121392	2	35	1	2	8	10	3.503479	1	0.330000	3.010000	0.674125	0.260000	1.100000e-01	1.000000	0.250000	0.367869	0.260000	0	1.800000e-01	4.500000e-01
PIK3C2B	5287	broad.mit.edu	37	1	204412697	204412697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:204412697G>A	ENST00000367187.3	-	20	3452	c.2896C>T	c.(2896-2898)Cag>Tag	p.Q966*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta			52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		ATGCTGAACTGAGAGTCCTTG	0.567000																								0							SO:0001587	stop_gained			ENST00000367187.3	0	1	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	46	12.910723	0.99705	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.2926	0.60278	0.0728:0.0:0.9272:0.0	.	.	.	.	X	966;938	.	ENSP00000356155:Q966X	Q	-	1	0	PIK3C2B	202679320	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	4.809000	0.62591	2.847000	0.97988	0.591000	0.81541	CAG		TCGA-LB-A8F3-01A-11D-A36O-08	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	0	0	0	59	1534	0	244	0	1.327794e-02	0	5	0	244	2		0	0	0	0	0	2	1	1.000000	60	1514	0	242	2	0	0	0	0	0	0		-3.261609	1	1	0	0		1	2	9	11	3.493699	1	0.330000	3.010000	0.671488	0.480000	3.400000e-01	1.000000	0.490000	0.572935	0.480000	0	4.000000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228495118	228495118	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:228495118C>T	ENST00000422127.1	+	46	12396	c.12352C>T	c.(12352-12354)Cgg>Tgg	p.R4118W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5075W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GTACGAGATGCGGAGCCAGGG	0.662000																								0							SO:0001583	missense			ENST00000422127.1	0	1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897492	0.52121	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.79	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.288780	0.05292	N	0.521231	T	0.76572	0.4006	L	0.53729	1.69	0.24836	N	0.992496	D;B	0.89917	1.0;0.37	D;B	0.78314	0.991;0.059	T	0.57505	-0.7800	10	0.54805	T	0.06	.	6.5659	0.22511	0.5717:0.2742:0.0:0.154	.	4118;4118	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4118;4118;1752;1237	ENSP00000284548:R4118W;ENSP00000409493:R4118W;ENSP00000355668:R1752W;ENSP00000355670:R1237W	ENSP00000284548:R4118W	R	+	1	2	OBSCN	226561741	0.809000	0.29036	0.030000	0.17652	0.186000	0.23388	0.384000	0.20668	0.364000	0.24374	-0.515000	0.04445	CGG		TCGA-LB-A8F3-01A-11D-A36O-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	4	175	0	27	0	2.633681e-03	0	3	0	27	2		0	0	0	0	0	2	1	0.883149	4	170	0	27	2	0	0	0	0	0	0		-5.866944	1	1	121030	3	28	1	2	8	10	3.619451	1	0.330000	3.010000	0.684260	0.350000	1.000000e-01	1.000000	0.270000	0.430789	0.350000	0	2.000000e-01	6.600000e-01
SLC12A5	57468	broad.mit.edu	37	20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:44675062C>T	ENST00000454036.2	+	14	1892	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5			80		Myeloproliferative disorder(115;0.0122)		Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552000																								0							SO:0001587	stop_gained			ENST00000454036.2	0	1	hg19	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	38	7.042841	0.98021	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	.	.	.	4.33	4.33	0.51752	.	0.075781	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.9059	0.47079	0.1878:0.8122:0.0:0.0	.	.	.	.	X	615;592	.	ENSP00000243964:R592X	R	+	1	2	SLC12A5	44108469	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.103000	0.57783	2.253000	0.74438	0.467000	0.42956	CGA		TCGA-LB-A8F3-01A-11D-A36O-08	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	1	0	0	13	359	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	0.999466	13	349	0	86	2	0	0	0	0	0	0		-12.894970	1	1	0	0		1	3	3	6	2.405922	1	0.330000	3.010000	0.522316	0.330000	1.700000e-01	1.000000	0.310000	0.474609	0.330000	0	2.400000e-01	1
OGFR	11054	broad.mit.edu	37	20	61444217	61444217	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:61444217G>A	ENST00000290291.6	+	7	1275	c.1250G>A	c.(1249-1251)tGt>tAt	p.C417Y	OGFR_ENST00000370461.1_Missense_Mutation_p.C365Y	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor			17	Breast(26;3.65e-08)				TTGGAGGGGTGTGCCCTCAGC	0.682000																								0							SO:0001583	missense			ENST00000290291.6	1	1	hg19	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577779	0.45902	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.64085	0.56;0.05;-0.08	4.98	3.99	0.46301	.	0.131453	0.51477	D	0.000099	T	0.71685	0.3369	M	0.66939	2.045	0.09310	N	0.999996	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.57371	0.819;0.819;0.819	T	0.65434	-0.6169	10	0.72032	D	0.01	-13.4023	13.2842	0.60232	0.0:0.0:0.7181:0.2819	.	417;400;417	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	Y	417;417;417;272;365	ENSP00000290291:C417Y;ENSP00000359499:C417Y;ENSP00000359491:C365Y	ENSP00000290291:C417Y	C	+	2	0	OGFR	60914662	0.964000	0.33143	0.980000	0.43619	0.665000	0.39181	1.485000	0.35519	2.278000	0.76064	0.555000	0.69702	TGT		TCGA-LB-A8F3-01A-11D-A36O-08	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	1	0	0	11	191	0	55	1	9.977942e-01	4	185	0	55	2		0	0	0	0	0	2	1	0.998194	11	185	0	54	2	0	0	0	0	0	0		-13.979590	1	1	0	0		1	3	3	6	2.405922	1	0.330000	3.010000	0.522316	0.530000	2.600000e-01	1.000000	0.460000	0.613356	0.530000	0	3.700000e-01	1
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2			2					GCTGGGGATGCGGTTCCTCCG	0.677000																								0							SO:0001583	missense			ENST00000339818.4	0	1	hg19	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164124	0.38217	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.09911	2.93;2.93;2.93	4.99	2.04	0.26737	.	0.730148	0.13311	N	0.397507	T	0.05960	0.0155	L	0.33245	0.995	0.09310	N	0.999998	B;P;B;B	0.36378	0.04;0.55;0.049;0.001	B;B;B;B	0.24541	0.007;0.054;0.011;0.001	T	0.34254	-0.9836	10	0.34782	T	0.22	-18.6603	4.4168	0.11461	0.17:0.583:0.0:0.247	.	73;73;73;32	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	H	73;109;73;73	ENSP00000344566:R73H;ENSP00000381047:R73H;ENSP00000317302:R73H	ENSP00000317302:R73H	R	-	2	0	C21orf2	44577499	0.135000	0.22499	0.996000	0.52242	0.789000	0.44602	-0.042000	0.12063	0.587000	0.29643	-0.126000	0.14955	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	0	0	0	4	96	0	26	0	8.383465e-01	0	82	0	26	2		0	0	0	0	0	2	1	0.876685	4	90	0	26	2	0	0	0	0	0	0		-3.261623	1	1	121316	38	43	1	1	2	3	1.912912	0	0.330000	3.010000	0.403782	0.340000	1.000000e-01	1.000000	0.270000	0.449314	0.340000	0	1.900000e-01	1
CECR1	51816	broad.mit.edu	37	22	17669277	17669277	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:17669277C>T	ENST00000399839.1	-	7	1303	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000262607.3_Missense_Mutation_p.A345T|CECR1_ENST00000330232.4_Missense_Mutation_p.A104T|CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000480276.1_5'Flank	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1			25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)			CCATCCTTGGCGGGGATCATC	0.607000																								0							SO:0001583	missense			ENST00000399839.1	0	1	hg19	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228346	0.06022	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	4.24	-1.32	0.09201	Adenosine/AMP deaminase (1);	0.973928	0.08462	N	0.942354	T	0.68081	0.2962	L	0.38838	1.175	0.09310	N	1	B;B	0.20887	0.049;0.008	B;B	0.10450	0.005;0.002	T	0.49224	-0.8962	10	0.12766	T	0.61	.	3.2155	0.06697	0.2619:0.3322:0.0:0.406	.	345;104	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	T	345;104;345;303;345	ENSP00000382733:A345T;ENSP00000332871:A104T;ENSP00000262607:A345T;ENSP00000406443:A303T;ENSP00000382731:A345T	ENSP00000262607:A345T	A	-	1	0	CECR1	16049277	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.129000	0.15830	0.143000	0.18926	0.561000	0.74099	GCC		TCGA-LB-A8F3-01A-11D-A36O-08	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1	0	0	0	8	326	0	99	0	3.010218e-02	0	10	0	99	2		0	0	0	0	0	2	1	0.988784	8	320	0	99	2	0	0	0	0	0	0		-2.953949	1	1	121412	8	39	1	1	2	3	2.011614	0	0.330000	3.010000	0.410704	0.180000	7.000000e-02	1.000000	0.170000	0.291938	0.180000	0	1.200000e-01	3.100000e-01
FAM171B	165215	broad.mit.edu	37	2	187626909	187626909	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:187626909C>T	ENST00000304698.5	+	8	2043	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B			54					ACAGAGCCTGCCATCCCAGGC	0.483000																								0							SO:0001583	missense			ENST00000304698.5	1	1	hg19	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863233	0.17250	.	.	ENSG00000144369	ENST00000304698	T	0.27890	1.64	5.85	5.85	0.93711	.	0.072813	0.56097	D	0.000025	T	0.23410	0.0566	N	0.25647	0.755	0.32038	N	0.598562	B;B	0.18461	0.028;0.028	B;B	0.24848	0.056;0.056	T	0.15780	-1.0425	10	0.26408	T	0.33	-16.0957	12.8401	0.57797	0.0:0.884:0.0:0.116	.	614;615	Q6P995;A8K122	F171B_HUMAN;.	S	614	ENSP00000304108:P614S	ENSP00000304108:P614S	P	+	1	0	FAM171B	187335154	0.101000	0.21875	1.000000	0.80357	0.980000	0.70556	1.693000	0.37742	2.753000	0.94483	0.655000	0.94253	CCA		TCGA-LB-A8F3-01A-11D-A36O-08	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	1	0	1	33	289	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	33	284	0	90	2	0	0	0	0	0	0		-12.732200	1	1	0	0		1	1	2	3	1.965871	0	0.330000	3.010000	0.410704	0.730000	5.000000e-01	1.000000	0.700000	0.756409	0.730000	0	6.000000e-01	9.500000e-01
MYO1B	4430	broad.mit.edu	37	2	192261178	192261178	+	Silent	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:192261178A>G	ENST00000392318.3	+	21	2497	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000304164.4_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T|MYO1B_ENST00000339514.4_Silent_p.T750T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB			55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		ACCAGCAGACAAAGAGTTCCG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000392318.3	1	1	hg19	CCDS46477.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	0	0	1	20	548	0	169	1	7.094443e-01	6	63	0	169	2		0	0	0	0	0	2	1	0.999995	20	540	0	168	2	0	0	0	0	0	0		-18.085410	1	1	0	0		1	1	2	3	1.965871	0	0.330000	3.010000	0.410704	0.250000	1.500000e-01	1.000000	0.250000	0.352180	0.250000	0	1.900000e-01	3.600000e-01
MPP4	58538	broad.mit.edu	37	2	202552087	202552087	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:202552087T>C	ENST00000409474.3	-	5	494	c.287A>G	c.(286-288)gAg>gGg	p.E96G	MPP4_ENST00000359962.5_Missense_Mutation_p.E96G|MPP4_ENST00000315506.7_Missense_Mutation_p.E96G|MPP4_ENST00000428900.2_Missense_Mutation_p.E96G|MPP4_ENST00000447335.2_Missense_Mutation_p.E96G|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000396886.3_Missense_Mutation_p.E96G	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)			12					ACGTAATAACTCCACTACCTG	0.393000																								0							SO:0001583	missense			ENST00000409474.3	0	1	hg19	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877332	0.33162	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.06687	3.28;3.27;3.28;3.28;3.28	5.88	3.43	0.39272	L27, C-terminal (1);L27 (2);	0.697165	0.13777	N	0.363487	T	0.08044	0.0201	L	0.43757	1.38	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B	0.10296	0.003;0.002;0.002;0.002;0.001;0.002;0.003;0.001;0.001	B;B;B;B;B;B;B;B;B	0.13407	0.008;0.006;0.002;0.002;0.001;0.002;0.009;0.001;0.005	T	0.32079	-0.9920	10	0.52906	T	0.07	.	5.6829	0.17786	0.0:0.1486:0.1428:0.7086	.	96;96;96;96;96;96;109;96;96	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	G	96	ENSP00000387278:E96G;ENSP00000319363:E96G;ENSP00000353047:E96G;ENSP00000416781:E96G;ENSP00000406160:E96G	ENSP00000319363:E96G	E	-	2	0	MPP4	202260332	0.937000	0.31787	0.005000	0.12908	0.084000	0.17831	2.824000	0.48088	0.445000	0.26639	0.533000	0.62120	GAG		TCGA-LB-A8F3-01A-11D-A36O-08	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2	0	0	0	3	54	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.782304	2	50	0	9	2	0	0	0	0	0	0		-7.301237	1	0	0	0		1	1	2	3	1.965871	0	0.330000	3.010000	0.410704	0.460000	1.200000e-01	1.000000	1.000000	0.525470	0.460000	0	2.500000e-01	9.300000e-01
SLC1A4	6509	broad.mit.edu	37	2	65243676	65243676	+	Silent	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:65243676T>A	ENST00000234256.3	+	5	1146	c.903T>A	c.(901-903)tcT>tcA	p.S301S	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4			13				L-Alanine(DB00160)	TCTTCGCATCTATATTGGGCC	0.458000																								0							SO:0001819	synonymous_variant			ENST00000234256.3	1	1	hg19	CCDS1879.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	0	0	0	18	477	0	170	0	1.650680e-01	1	18	0	170	2		0	0	0	0	0	2	1	0.999981	18	472	0	168	2	0	0	0	0	0	0		-17.052850	1	1	0	0		1	1	2	3	1.922617	0	0.330000	3.010000	0.406397	0.260000	1.500000e-01	1.000000	0.250000	0.381474	0.260000	0	2.000000e-01	1
CNGA3	1261	broad.mit.edu	37	2	99013711	99013711	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:99013711A>G	ENST00000272602.2	+	7	2117	c.2078A>G	c.(2077-2079)cAa>cGa	p.Q693R	CNGA3_ENST00000393504.1_Missense_Mutation_p.Q693R|CNGA3_ENST00000409937.1_Missense_Mutation_p.Q697R|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					GAGGACAAACAACAGTGAAAA	0.562000																								0							SO:0001583	missense			ENST00000272602.2	0	1	hg19	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281297	0.59758	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97553	-4.27;-4.21;-4.27;-4.43	5.18	-1.08	0.09936	.	1.144930	0.06868	N	0.800336	D	0.90195	0.6935	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29716	0.255;0.0;0.0	B;B;B	0.16722	0.016;0.001;0.001	T	0.81933	-0.0706	10	0.10377	T	0.69	.	0.7756	0.01031	0.4129:0.1827:0.2527:0.1518	.	697;675;693	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	R	693;675;693;697	ENSP00000377140:Q693R;ENSP00000410070:Q675R;ENSP00000272602:Q693R;ENSP00000386761:Q697R	ENSP00000272602:Q693R	Q	+	2	0	CNGA3	98380143	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	0.012000	0.13287	-0.316000	0.08690	0.533000	0.62120	CAA		TCGA-LB-A8F3-01A-11D-A36O-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	0	0	0	7	144	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.979508	7	140	0	45	2	0	0	0	0	0	0		-10.201140	1	1	0	0		1	1	2	3	1.939341	0	0.330000	3.010000	0.414105	0.350000	1.500000e-01	1.000000	0.320000	0.425818	0.350000	0	2.300000e-01	5.600000e-01
GATA2	2624	broad.mit.edu	37	3	128200783	128200783	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:128200783G>A	ENST00000341105.2	-	5	1353	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	GATA2_ENST00000430265.2_Intron|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	p.A341_G346del(1)		79					TCTTCTGGCGGCCGACTGGGA	0.667000			Mis		AML(CML blast transformation)										Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Deletion - In frame(1)						SO:0001583	missense			ENST00000341105.2	0	1	hg19	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871747	0.91587	.	.	ENSG00000179348	ENST00000341105;ENST00000487848	D;D	0.97710	-4.5;-4.5	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	L	0.31926	0.97	0.80722	D	1	P	0.50528	0.936	P	0.56434	0.798	D	0.97318	0.9942	10	0.42905	T	0.14	-6.4427	18.1809	0.89777	0.0:0.0:1.0:0.0	.	341	P23769	GATA2_HUMAN	V	341	ENSP00000345681:A341V;ENSP00000417074:A341V	ENSP00000345681:A341V	A	-	2	0	GATA2	129683473	1.000000	0.71417	0.857000	0.33713	0.977000	0.68977	9.778000	0.99011	2.271000	0.75665	0.591000	0.81541	GCC		TCGA-LB-A8F3-01A-11D-A36O-08	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	0	0	0	4	161	0	82	0	3.119290e-03	0	3	0	82	2		0	0	0	0	0	2	1	0.891348	5	160	0	81	2	0	0	0	0	0	0		-5.911514	1	1	0	0		1	0	2	2	1.700345	1	0.330000	3.010000	0.330000	0.170000	5.000000e-02	1.000000	0.140000	0.264770	0.170000	0	1.000000e-01	3.100000e-01
RFTN1	23180	broad.mit.edu	37	3	16475415	16475415	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:16475415C>T	ENST00000334133.4	-	3	547	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	p.R92L(1)		38					CGTCTTCTCCCGCTCATGGGT	0.632000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000334133.4	0	1	hg19	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302648	0.10678	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.21	-8.08	0.01094	.	1.391410	0.04296	N	0.346433	T	0.13884	0.0336	N	0.16790	0.44	0.09310	N	1	B;B	0.20261	0.043;0.014	B;B	0.12837	0.008;0.003	T	0.13845	-1.0494	10	0.19147	T	0.46	0.1934	4.5627	0.12168	0.1791:0.1421:0.0834:0.5953	.	56;92	G3XAJ6;Q14699	.;RFTN1_HUMAN	Q	56;92;92;92;92;92	ENSP00000403926:R56Q;ENSP00000334153:R92Q;ENSP00000403997:R92Q;ENSP00000409427:R92Q;ENSP00000388718:R92Q;ENSP00000393216:R92Q	ENSP00000334153:R92Q	R	-	2	0	RFTN1	16450419	0.012000	0.17670	0.001000	0.08648	0.415000	0.31203	0.128000	0.15810	-2.466000	0.00533	-0.367000	0.07326	CGG		TCGA-LB-A8F3-01A-11D-A36O-08	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	0	0	0	10	676	0	267	0	3.135803e-02	0	17	0	267	2		0	0	0	0	0	2	1	0.996516	9	661	0	264	2	0	0	0	0	0	0		-1.792441	0	1	121412	1	38	1	0	2	2	1.700345	1	0.330000	3.010000	0.330000	0.090000	4.000000e-02	1.000000	0.090000	0.190757	0.090000	0	6.000000e-02	1.500000e-01
SAMD7	344658	broad.mit.edu	37	3	169644499	169644499	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:169644499T>C	ENST00000428432.2	+	6	838	c.449T>C	c.(448-450)cTg>cCg	p.L150P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7			31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		GCCGGTGACCTGCATTTTCAC	0.592000																								0							SO:0001583	missense			ENST00000428432.2	1	1	hg19	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	9.381	1.072926	0.20147	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.55588	0.51;0.51	6.16	3.76	0.43208	.	0.394431	0.24664	N	0.036603	T	0.35451	0.0932	N	0.21448	0.665	0.51012	D	0.999903	B	0.24533	0.105	B	0.20384	0.029	T	0.09058	-1.0692	10	0.40728	T	0.16	-0.459	8.2492	0.31706	0.1197:0.065:0.0:0.8154	.	150	Q7Z3H4	SAMD7_HUMAN	P	150	ENSP00000391299:L150P;ENSP00000334668:L150P	ENSP00000334668:L150P	L	+	2	0	SAMD7	171127193	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	3.078000	0.50096	0.541000	0.28827	0.528000	0.53228	CTG		TCGA-LB-A8F3-01A-11D-A36O-08	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	1	0	1	44	248	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	44	245	0	89	2	0	0	0	0	0	0		-19.986190	1	1	0	0		1	0	2	2	1.700345	1	0.330000	3.010000	0.330000	0.930000	6.800000e-01	1.000000	1.000000	0.910262	0.930000	1	7.900000e-01	1
CPE	1363	broad.mit.edu	37	4	166418761	166418761	+	Nonstop_Mutation	SNP	A	A	T	rs34858186		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:166418761A>T	ENST00000402744.4	+	9	1710	c.1430A>T	c.(1429-1431)tAa>tTa	p.*477L		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E			26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTAAATTTTTAAAAAGGCTTC	0.299000																								0							SO:0001578	stop_lost			ENST00000402744.4	0	1	hg19	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808900	0.31961	.	.	ENSG00000109472	ENST00000402744	.	.	.	5.76	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.884	0.35392	0.8565:0.0:0.1435:0.0	.	.	.	.	L	477	.	.	X	+	2	2	CPE	166638211	1.000000	0.71417	0.896000	0.35187	0.550000	0.35303	3.556000	0.53734	1.019000	0.39547	-0.250000	0.11733	TAA		TCGA-LB-A8F3-01A-11D-A36O-08	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	0	0	1	37	114	0	42	1	9.999967e-01	7	59	0	42	2		0	0	0	0	0	2	1	1.000000	37	114	0	42	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	1.984231	1	0.330000	3.010000	0.416630	0.990000	9.900000e-01	1.000000	1.000000	0.999981	0.990000	1	9.900000e-01	1
FRAS1	80144	broad.mit.edu	37	4	79396679	79396679	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:79396679C>T	ENST00000264895.6	+	54	8210	c.7770C>T	c.(7768-7770)cgC>cgT	p.R2590R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1			103					TCCTGTGTCGCACCGAGCAAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000264895.6	0	1	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514788	0.04200	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	0.23	0.15372	.	.	.	.	.	T	0.41534	0.1163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	1.4158	0.02301	0.2395:0.4251:0.1163:0.219	.	.	.	.	Y	819	.	.	H	+	1	0	FRAS1	79615703	0.998000	0.40836	0.409000	0.26459	0.132000	0.20833	0.632000	0.24583	-0.322000	0.08615	-0.194000	0.12790	CAC		TCGA-LB-A8F3-01A-11D-A36O-08	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	5	284	0	80	0	4.942805e-04	0	2	0	80	2		0	0	0	0	0	2	1	0.933971	5	277	0	80	2	0	0	0	0	0	0		-5.894410	1	0	0	0		1	1	2	3	1.943468	0	0.330000	3.010000	0.410704	0.140000	4.000000e-02	1.000000	0.120000	0.255151	0.140000	0	8.000000e-02	2.700000e-01
SH3TC1	54436	broad.mit.edu	37	4	8230216	8230216	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:8230216T>A	ENST00000245105.3	+	12	2862	c.2795T>A	c.(2794-2796)cTg>cAg	p.L932Q	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L856Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					GCCGTGCGGCTGTTCTCGAGG	0.706000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001583	missense			ENST00000245105.3	1	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134594	0.37630	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.69306	-0.39;-0.39	4.63	3.4	0.38934	Tetratricopeptide-like helical (1);	0.234828	0.36303	N	0.002670	T	0.79575	0.4469	M	0.78049	2.395	0.44485	D	0.997427	D	0.89917	1.0	D	0.77557	0.99	T	0.79694	-0.1696	10	0.87932	D	0	-16.7905	10.304	0.43670	0.1479:0.0:0.0:0.8521	.	932	Q8TE82	S3TC1_HUMAN	Q	670;932;856;761	ENSP00000245105:L932Q;ENSP00000441045:L856Q	ENSP00000245105:L932Q	L	+	2	0	SH3TC1	8281116	1.000000	0.71417	0.885000	0.34714	0.007000	0.05969	7.019000	0.76412	0.585000	0.29608	0.459000	0.35465	CTG		TCGA-LB-A8F3-01A-11D-A36O-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1	23	134	0	49	1	9.927851e-01	13	36	0	49	2		0	0	0	0	0	2	1	0.999999	22	129	0	48	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	1.932073	0	0.330000	3.010000	0.411558	0.990000	6.800000e-01	1.000000	1.000000	0.946202	0.990000	1	8.500000e-01	1
SLC6A19	340024	broad.mit.edu	37	5	1201792	1201792	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:1201792C>T	ENST00000304460.10	+	1	83	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19			44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		TGCCCAACCCCGGCCTAGACG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000304460.10	1	1	hg19	CCDS34130.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	1	0	1	9	74	0	31	1	4.009623e-02	3	0	0	31	2		0	0	0	0	0	2	1	0.994166	9	71	0	30	2	0	0	0	0	0	0		-15.304850	1	1	120904	15	36	1	1	2	3	1.943568	0	0.330000	3.010000	0.409848	0.810000	4.000000e-01	1.000000	1.000000	0.798889	0.810000	0	5.700000e-01	1
ACTBL2	345651	broad.mit.edu	37	5	56778497	56778497	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:56778497T>C	ENST00000423391.1	-	1	139	c.38A>G	c.(37-39)aAt>aGt	p.N13S	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2			28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)			CCCTGACCCATTATCCACTAC	0.542000																								0							SO:0001583	missense			ENST00000423391.1	1	1	hg19	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949343	0.53186	.	.	ENSG00000169067	ENST00000423391	D	0.97665	-4.48	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	D	0.98040	0.9354	M	0.93854	3.465	0.49798	D	0.999821	B	0.26318	0.146	B	0.40741	0.339	D	0.98614	1.0664	10	0.87932	D	0	.	12.977	0.58542	0.0:0.0:0.0:1.0	.	13	Q562R1	ACTBL_HUMAN	S	13	ENSP00000416706:N13S	ENSP00000416706:N13S	N	-	2	0	ACTBL2	56814254	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.054000	0.71096	2.156000	0.67533	0.460000	0.39030	AAT		TCGA-LB-A8F3-01A-11D-A36O-08	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	1	0	1	18	149	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.999985	17	147	0	46	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	1.943568	0	0.330000	3.010000	0.409848	0.780000	4.700000e-01	1.000000	1.000000	0.792426	0.780000	0	6.100000e-01	1
GPR98	84059	broad.mit.edu	37	5	89979973	89979973	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:89979973C>T	ENST00000405460.2	+	28	6331	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			TATCGAACTACTCAACTCTAC	0.363000																								0							SO:0001583	missense			ENST00000405460.2	1	1	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	6.792	0.515177	0.12944	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28069	1.63	5.71	1.34	0.21922	Na-Ca exchanger/integrin-beta4 (1);	0.425070	0.27821	N	0.017719	T	0.13756	0.0333	N	0.16307	0.4	0.42111	D	0.991388	B	0.20368	0.044	B	0.24006	0.05	T	0.10382	-1.0632	10	0.13853	T	0.58	.	3.4706	0.07566	0.1498:0.5324:0.0958:0.2221	.	2079	Q8WXG9	GPR98_HUMAN	F	2079	ENSP00000384582:L2079F	ENSP00000296619:L2079F	L	+	1	0	GPR98	90015729	0.004000	0.15560	0.946000	0.38457	0.893000	0.52053	0.320000	0.19540	0.319000	0.23209	0.591000	0.81541	CTC		TCGA-LB-A8F3-01A-11D-A36O-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	20	143	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.999997	20	142	0	52	2	0	0	0	0	0	0		-20.000000	1	1	120792	2	37	1	1	2	3	1.943568	0	0.330000	3.010000	0.409848	0.880000	5.500000e-01	1.000000	1.000000	0.864492	0.880000	1	7.000000e-01	1
TAS2R1	50834	broad.mit.edu	37	5	9629850	9629850	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:9629850G>A	ENST00000382492.2	-	1	613	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1			39					AAAACGCCGAGCCATGTGGCA	0.433000																								0							SO:0001583	missense			ENST00000382492.2	0	1	hg19	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185783	0.78789	.	.	ENSG00000169777	ENST00000382492	T	0.02216	4.39	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000004	T	0.14917	0.0360	M	0.84773	2.715	0.48135	D	0.999591	D	0.89917	1.0	D	0.97110	1.0	T	0.00059	-1.2166	9	.	.	.	.	16.5409	0.84384	0.0:0.0:1.0:0.0	.	99	Q9NYW7	TA2R1_HUMAN	F	99	ENSP00000371932:L99F	.	L	-	1	0	TAS2R1	9682850	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	6.136000	0.71703	2.767000	0.95098	0.655000	0.94253	CTC		TCGA-LB-A8F3-01A-11D-A36O-08	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	0	0	0	6	175	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.964546	6	173	0	38	2	0	0	0	0	0	0		-8.629536	1	1	0	0		1	1	2	3	1.943568	0	0.330000	3.010000	0.409848	0.260000	1.000000e-01	1.000000	0.230000	0.363873	0.260000	0	1.600000e-01	4.800000e-01
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase			15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)		TGGTTTCGCCGCAAATGGCAA	0.433000																								0							SO:0001583	missense			ENST00000344419.3	0	1	hg19	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		TCGA-LB-A8F3-01A-11D-A36O-08	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	0	0	8	572	0	127	0	0	0	1	0	127	2		0	0	0	0	0	2	1	0.988910	8	565	0	126	2	0	0	0	0	0	0		-1.969494	0	1	121412	3	38	1	2	2	4	2.129274	1	0.330000	3.010000	0.461501	0.110000	4.000000e-02	1.000000	0.110000	0.279275	0.110000	0	7.000000e-02	1
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo								CCCGACACCGGCATCTCATCG	0.557000																								0							SO:0001583	missense			ENST00000303806.4	0	1	hg19	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		TCGA-LB-A8F3-01A-11D-A36O-08	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	0	0	0	6	791	0	249		0	0	0	0	249	2		0	0	0	0	0	2	1	0.963366	6	779	0	247	2	0	0	0	0	0	0		-1.757050	0	1	0	0		1	2	2	4	2.129274	1	0.330000	3.010000	0.461501	0.060000	1.000000e-02	1.000000	0.070000	0.237457	0.060000	0	3.000000e-02	1
LRRN3	54674	broad.mit.edu	37	7	110763403	110763403	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:110763403T>C	ENST00000422987.3	+	2	1406	c.575T>C	c.(574-576)aTt>aCt	p.I192T	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.I192T|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3			55					AATCTAGAGATTCTGATGATT	0.373000																								0							SO:0001583	missense			ENST00000422987.3	1	1	hg19	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362159	0.61403	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.23348	1.91;1.91;1.91;4.37	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000013	T	0.35653	0.0939	L	0.55017	1.72	0.58432	D	0.999999	D	0.56968	0.978	P	0.51974	0.686	T	0.05666	-1.0871	10	0.15499	T	0.54	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	192	Q9H3W5	LRRN3_HUMAN	T	192	ENSP00000312001:I192T;ENSP00000397312:I192T;ENSP00000412417:I192T;ENSP00000407927:I192T	ENSP00000312001:I192T	I	+	2	0	LRRN3	110550639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	ATT		TCGA-LB-A8F3-01A-11D-A36O-08	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	1	0	1	60	304	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1.000000	57	301	0	116	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	1.729580	0	0.330000	3.010000	0.334393	0.990000	7.800000e-01	1.000000	1.000000	0.959597	0.990000	1	8.900000e-01	1
OR2A7	401427	broad.mit.edu	37	7	143956698	143956698	+	Silent	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:143956698G>T	ENST00000493325.1	-	1	117	c.24C>A	c.(22-24)atC>atA	p.I8I	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7			6	Melanoma(164;0.14)				GGAACTCTGTGATGGATGTTA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000493325.1	1	1	hg19	CCDS55177.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1	1	0	0	60	440	0	127	0	1.497786e-02	1	1	0	127	2		0	0	0	0	0	2	1	1.000000	57	435	0	126	2	0	0	0	0	0	0		-19.996180	1	1	0	0		1						0.330000	3.010000									0	0
WBSCR28	135886	broad.mit.edu	37	7	73279489	73279489	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:73279489G>A	ENST00000320531.2	+	2	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28			11		Lung NSC(55;0.159)			CTCTGGGCTGGGCTGGCTCTG	0.697000																								0							SO:0001583	missense			ENST00000320531.2	1	1	hg19	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755009	0.49362	.	.	ENSG00000175877	ENST00000320531	T	0.36699	1.24	4.63	2.63	0.31362	.	0.340255	0.21598	N	0.071982	T	0.45458	0.1343	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.16600	-1.0397	10	0.87932	D	0	-14.5081	9.5408	0.39251	0.0:0.0:0.622:0.378	.	80	Q6UE05	WBS28_HUMAN	E	80	ENSP00000316775:G80E	ENSP00000316775:G80E	G	+	2	0	WBSCR28	72917425	0.201000	0.23410	0.191000	0.23289	0.093000	0.18481	1.085000	0.30840	1.121000	0.41925	0.650000	0.86243	GGG		TCGA-LB-A8F3-01A-11D-A36O-08	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	1	0	1	58	459	0	176		0	0	0	0	176	2		0	0	0	0	0	2	1	1.000000	57	447	0	176	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	3	4	2.213029	1	0.330000	3.010000	0.478112	0.890000	6.700000e-01	1.000000	1.000000	0.887982	0.890000	1	7.700000e-01	1
SAMD12	401474	broad.mit.edu	37	8	119391680	119391680	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:119391680G>A	ENST00000314727.4	-	4	718	c.582C>T	c.(580-582)atC>atT	p.I194I	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000527515.1_Intron|SAMD12_ENST00000409003.4_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12			9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)		TATTTTCTATGATGGAAATTC	0.368000																								0							SO:0001819	synonymous_variant			ENST00000314727.4	0	1	hg19	CCDS6325.1																																																																																				TCGA-LB-A8F3-01A-11D-A36O-08	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	0	0	0	5	234	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.936107	5	231	0	78	2	0	0	0	0	0	0		-3.289897	1	1	0	0		1	0	2	2	1.737975	1	0.330000	3.010000	0.330000	0.140000	5.000000e-02	1.000000	0.120000	0.238232	0.140000	0	8.000000e-02	2.500000e-01
ADAM2	2515	broad.mit.edu	37	8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2			53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)		GGATCTAAGCGAGGCTGATTG	0.433000																								0							SO:0001583	missense			ENST00000265708.4	1	1	hg19	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134834	0.37728	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	4.99;4.37;5.23;5.19	5.11	3.29	0.37713	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08044	0.0201	M	0.81802	2.56	0.09310	N	0.999999	P;D;D;P	0.69078	0.955;0.997;0.973;0.955	P;P;P;P	0.55667	0.608;0.649;0.781;0.608	T	0.18241	-1.0343	8	.	.	.	.	6.5366	0.22357	0.0932:0.0:0.7281:0.1787	.	376;250;357;376	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	357;250;376;376	ENSP00000343854:R357C;ENSP00000369182:R250C;ENSP00000265708:R376C;ENSP00000429352:R376C	.	R	-	1	0	ADAM2	39746154	0.001000	0.12720	0.048000	0.18961	0.292000	0.27327	0.361000	0.20267	0.635000	0.30488	0.650000	0.86243	CGC		TCGA-LB-A8F3-01A-11D-A36O-08	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	1	0	0	11	215	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.998417	11	214	0	62	2	0	0	0	0	0	0		-2.939794	1	1	0	0		1	0	2	2	1.737975	1	0.330000	3.010000	0.330000	0.310000	1.600000e-01	1.000000	0.300000	0.387395	0.310000	0	2.200000e-01	4.600000e-01
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase			49					CCAGAGGATGCCGCTCCTTCT	0.498000																								0							SO:0001583	missense			ENST00000374448.4	0	1	hg19	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		TCGA-LB-A8F3-01A-11D-A36O-08	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	6	856	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	0.963081	6	841	0	245	2	0	0	0	0	0	0		-1.858213	0	1	0	0		1	1	2	3	1.943401	0	0.330000	3.010000	0.409848	0.050000	0	1.000000	0.060000	0.186542	0.050000	0	2.000000e-02	1.100000e-01
ANAPC2	29882	broad.mit.edu	37	9	140082360	140082360	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:140082360G>C	ENST00000323927.2	-	2	317	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2			15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)		AGGCACTGGGGCTCATCCGCA	0.582000																								0							SO:0001583	missense			ENST00000323927.2	1	1	hg19	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452889	0.26161	.	.	ENSG00000176248	ENST00000323927	T	0.70399	-0.48	5.09	5.09	0.68999	.	0.187678	0.48767	D	0.000169	T	0.57007	0.2024	L	0.40543	1.245	0.31326	N	0.685481	B	0.06786	0.001	B	0.04013	0.001	T	0.52003	-0.8633	10	0.07482	T	0.82	-30.4898	11.8137	0.52197	0.0:0.1774:0.8226:0.0	.	105	Q9UJX6	ANC2_HUMAN	A	105	ENSP00000314004:P105A	ENSP00000314004:P105A	P	-	1	0	ANAPC2	139202181	1.000000	0.71417	0.983000	0.44433	0.770000	0.43624	2.929000	0.48916	2.365000	0.80145	0.561000	0.74099	CCC		TCGA-LB-A8F3-01A-11D-A36O-08	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	1	0	1	30	192	0	80	1	9.351292e-01	9	23	0	80	2		0	0	0	0	0	2	1	1.000000	29	190	0	80	2	0	0	0	0	0	0		-14.950100	1	1	0	0		1	1	2	3	1.955606	0	0.330000	3.010000	0.406397	0.960000	6.500000e-01	1.000000	1.000000	0.918259	0.960000	1	7.900000e-01	1
VLDLR	7436	broad.mit.edu	37	9	2641436	2641436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:2641436C>T	ENST00000382100.3	+	4	741	c.385C>T	c.(385-387)Cca>Tca	p.P129S	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor			24					TCAGTGTATCCCAGTGTCCTG	0.433000																								0							SO:0001583	missense			ENST00000382100.3	0	1	hg19	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645424	0.67358	.	.	ENSG00000147852	ENST00000382100;ENST00000382099	D;D	0.95554	-3.74;-3.74	6.07	6.07	0.98685	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000066	D	0.96648	0.8906	L	0.50919	1.6	0.80722	D	1	B;B	0.33694	0.421;0.148	B;P	0.51055	0.429;0.657	D	0.95111	0.8238	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	129;129	Q5VVF5;P98155	.;VLDLR_HUMAN	S	129	ENSP00000371532:P129S;ENSP00000371531:P129S	ENSP00000371531:P129S	P	+	1	0	VLDLR	2631436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.635000	0.61332	2.884000	0.98904	0.655000	0.94253	CCA		TCGA-LB-A8F3-01A-11D-A36O-08	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	0	0	0	6	339	0	117	0	1.171486e-02	0	8	0	117	2		0	0	0	0	0	2	1	0.964364	6	336	0	116	2	0	0	0	0	0	0		-2.544284	1	1	0	0		1	0	2	2	1.718977	1	0.330000	3.010000	0.330000	0.110000	4.000000e-02	1.000000	0.100000	0.225867	0.110000	0	7.000000e-02	2.100000e-01
PRKACG	5568	broad.mit.edu	37	9	71628843	71628843	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:71628843C>T	ENST00000377276.2	-	1	196	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma			22					ATCACCCGCCCGAAGGAGCCC	0.592000													Esophageal Squamous(110;2236 2623 32146)											0							SO:0001583	missense			ENST00000377276.2	0	1	hg19	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877235	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.80738	-1.41	1.32	1.32	0.21799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31531	U	0.007486	D	0.92120	0.7502	H	0.98682	4.3	0.36255	D	0.854184	D	0.89917	1.0	D	0.87578	0.998	D	0.92260	0.5816	10	0.87932	D	0	.	8.1306	0.31024	0.0:1.0:0.0:0.0	.	56	P22612	KAPCG_HUMAN	R	56	ENSP00000366488:G56R	ENSP00000366488:G56R	G	-	1	0	PRKACG	70818663	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	1.488000	0.35551	0.687000	0.31509	0.563000	0.77884	GGG		TCGA-LB-A8F3-01A-11D-A36O-08	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1	0	0	0	7	269	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	0.979684	7	264	0	102	2	0	0	0	0	0	0		-2.935363	1	1	0	0		1	0	2	2	1.712697	1	0.330000	3.010000	0.330000	0.170000	7.000000e-02	1.000000	0.160000	0.265395	0.170000	0	1.100000e-01	2.800000e-01
STAG2	10735	broad.mit.edu	37	X	123176477	123176477	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:123176477G>A	ENST00000371160.1	+	7	734	c.444G>A	c.(442-444)atG>atA	p.M148I	STAG2_ENST00000354548.5_Missense_Mutation_p.M79I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I|STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2			78					TTCGAAAAATGACTGAAGAAT	0.299000																								0							SO:0001583	missense			ENST00000371160.1	1	1	hg19	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274155	0.80580	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	T;T;T;T;T;T;T	0.42900	1.9;0.96;1.52;1.51;1.51;1.9;1.51	5.74	4.86	0.63082	.	0.077879	0.85682	D	0.000000	T	0.60958	0.2309	M	0.83603	2.65	0.80722	D	1	D;P	0.55172	0.97;0.884	P;P	0.56700	0.804;0.54	T	0.62817	-0.6774	10	0.29301	T	0.29	-15.651	15.262	0.73631	0.0:0.0:0.8586:0.1414	.	148;148	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	148;148;79;148;148;148;148;148;148;148	ENSP00000218089:M148I;ENSP00000397265:M148I;ENSP00000346555:M79I;ENSP00000360202:M148I;ENSP00000360199:M148I;ENSP00000360187:M148I;ENSP00000360186:M148I	ENSP00000218089:M148I	M	+	3	0	STAG2	123004158	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.740000	0.98839	1.172000	0.42781	0.522000	0.50473	ATG		TCGA-LB-A8F3-01A-11D-A36O-08	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	1	0	0	25	344	0	111	0	1.290434e-01	0	9	0	111	2		0	0	0	0	0	2	1	1.000000	25	339	0	111	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.330000	3.010000	0.330000	0.410000	2.700000e-01	0.580000	0.410000	0.422390	0.410000	0	3.300000e-01	5.000000e-01
CXorf23	256643	broad.mit.edu	37	X	19955570	19955570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:19955570G>T	ENST00000379682.4	-	8	1859	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CXorf23_ENST00000379687.3_Intron|CXorf23_ENST00000356980.3_Intron			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23			11					TCTAAAATTTGATTTTATAAA	0.289000																								0							SO:0001587	stop_gained			ENST00000379682.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928330	0.73327	.	.	ENSG00000173681	ENST00000379682	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.43480	D	0.995702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6845	0.45835	0.0912:0.0:0.9088:0.0	.	.	.	.	X	609	.	.	S	-	2	0	CXorf23	19865491	0.998000	0.40836	0.587000	0.28692	0.095000	0.18619	4.275000	0.58927	2.293000	0.77203	0.538000	0.68166	TCA		TCGA-LB-A8F3-01A-11D-A36O-08	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	0	0	1	28	190	0	48	0	1.789387e-02	0	2	0	48	2		0	0	0	0	0	2	1	1.000000	28	189	0	48	2	0	0	0	0	0	0		-13.818080	1	1	0	0		1	0	1	1			0.330000	3.010000	0.330000	0.770000	5.300000e-01	1.000000	1.000000	0.786483	0.770000	0	6.400000e-01	9.200000e-01
ZNF645	158506	broad.mit.edu	37	X	22292216	22292216	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645			27					TCAGTTCACCGAAAATCAAGA	0.448000																								0							SO:0001583	missense			ENST00000323684.1	1	1	hg19	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921190	0.33908	.	.	ENSG00000175809	ENST00000323684	T	0.44881	0.91	2.9	2.03	0.26663	.	0.187414	0.44902	U	0.000420	T	0.44787	0.1310	L	0.50333	1.59	0.24531	N	0.994111	D	0.61080	0.989	P	0.54856	0.762	T	0.23547	-1.0185	10	0.46703	T	0.11	.	7.378	0.26839	0.143:0.0:0.857:0.0	.	370	Q8N7E2	ZN645_HUMAN	K	370	ENSP00000323348:E370K	ENSP00000323348:E370K	E	+	1	0	ZNF645	22202137	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	1.969000	0.40510	0.622000	0.30249	-0.191000	0.12829	GAA		TCGA-LB-A8F3-01A-11D-A36O-08	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	1	0	0	32	406	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1.000000	31	401	0	126	2	0	0	0	0	0	0		-3.318785	1	1	0	0		1	0	1	1			0.330000	3.010000	0.330000	0.440000	3.000000e-01	0.600000	0.440000	0.452432	0.440000	0	3.700000e-01	5.300000e-01
KIF4A	24137	broad.mit.edu	37	X	69607059	69607059	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69607059A>G	ENST00000374403.3	+	20	2226	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	KIF4A_ENST00000374388.3_Missense_Mutation_p.K715R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A			51					AAGCGTCTCAAGGATGCTCTC	0.423000																								0							SO:0001583	missense			ENST00000374403.3	1	1	hg19	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637444	0.47049	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.71461	2.54;-0.57	4.6	2.26	0.28386	.	0.203530	0.34460	N	0.003950	T	0.61048	0.2316	L	0.55990	1.75	0.54753	D	0.999982	B	0.19935	0.04	B	0.16722	0.016	T	0.56306	-0.8001	10	0.41790	T	0.15	.	7.6175	0.28167	0.803:0.0:0.197:0.0	.	715	O95239	KIF4A_HUMAN	R	715;715;17	ENSP00000363509:K715R;ENSP00000363524:K715R	ENSP00000363509:K715R	K	+	2	0	KIF4A	69523784	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.459000	0.53021	0.707000	0.31934	0.381000	0.24937	AAG		TCGA-LB-A8F3-01A-11D-A36O-08	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	1	0	1	12	36	0	11	0	7.137255e-02	1	1	0	11	2		0	0	0	0	0	2	1	0.999525	12	36	0	11	2	0	0	0	0	0	0		-19.999980	1	1	0	0		1	0	1	1			0.330000	3.010000	0.330000	0.990000	8.500000e-01	1.000000	1.000000	0.991401	0.990000	1	9.900000e-01	1
PCDH19	57526	broad.mit.edu	37	X	99662436	99662436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:99662436C>T	ENST00000373034.4	-	1	2835	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19			68					GCCCAGCAAACGGCACTGCAC	0.607000																								0							SO:0001583	missense			ENST00000373034.4	1	1	hg19	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215554	0.58452	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53640	0.61;0.61;0.61	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.045907	0.85682	D	0.000000	T	0.53546	0.1803	L	0.39514	1.22	0.49389	D	0.99978	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.937;0.955;0.973	T	0.52983	-0.8502	10	0.32370	T	0.25	.	6.888	0.24214	0.0:0.7732:0.0:0.2268	.	387;387;387	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	387	ENSP00000400327:R387H;ENSP00000362125:R387H;ENSP00000255531:R387H	ENSP00000255531:R387H	R	-	2	0	PCDH19	99549092	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.536000	0.53582	2.498000	0.84270	0.513000	0.50165	CGT		TCGA-LB-A8F3-01A-11D-A36O-08	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	1	0	0	41	350	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1.000000	41	347	0	100	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.330000	3.010000	0.330000	0.630000	4.600000e-01	0.820000	0.630000	0.644324	0.630000	0	5.400000e-01	7.300000e-01
