Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
UROC1	131669	broad.mit.edu	37	3	126219548	126219548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:126219548C>T	uc010hsi.2	-	11	1369	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I	UROC1_uc003eiz.2_Missense_Mutation_p.V379I	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	379					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTTTCCTGGACCAGGTCCTTG	0.597000														53			39		0	0	0.124865	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146558	37146558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:37146558G>A	uc002xiw.3	+	8	1589	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	RALGAPB_uc010zvz.1_Silent_p.L444L|RALGAPB_uc002xix.3_Silent_p.L444L|RALGAPB_uc002xiy.1_Silent_p.L444L|RALGAPB_uc002xiz.3_Silent_p.L222L|RALGAPB_uc002xja.1_Silent_p.L171L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	444					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGCATCTTGAATCTCTTTG	0.453000														55			103		0	0	0.139131	0	0
TJP3	27134	broad.mit.edu	37	19	3736281	3736281	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:3736281G>A	uc010xhv.2	+	9	1345	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	TJP3_uc010xhs.2_Missense_Mutation_p.D416N|TJP3_uc010xht.2_Missense_Mutation_p.D380N|TJP3_uc010xhu.2_Missense_Mutation_p.D425N|TJP3_uc010xhw.2_Missense_Mutation_p.D435N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	430	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCGGCCGACGGGCAGGG	0.687000														12			13		0	0	0.105934	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50191101	50191101	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:50191101G>A	uc009zlk.2	-	7	744	c.542C>T	c.(541-543)tCc>tTc	p.S181F	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	177	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AAGGAACGGGGATAGGGCATC	0.647000														20			13		0	0	0.105934	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712480	187712480	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:187712480G>A	uc002upu.1	-	1	248	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTCCTTTCGGAAATGTGGAA	0.348000														31			37		0	0	0.111260	0	0
OR5H6	79295	broad.mit.edu	37	3	97983771	97983771	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:97983771G>A	uc003dsi.1	+	0	643	c.643G>A	c.(643-645)Gtt>Att	p.V215I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTTTCTAATGGTTTTTATTTT	0.289000														19			29		0	0	0.108266	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364267	142364267	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:142364267T>C	uc003vzx.3	+	0	68	c.34T>C	c.(34-36)Tat>Cat	p.Y12H	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGGCCTTTTATCTCCTGGG	0.498000														16			12		0	0	0.119110	0	0
CRISP2	7180	broad.mit.edu	37	6	49666200	49666200	+	Missense_Mutation	SNP	G	A	A	rs148414007	by1000genomes	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:49666200G>A	uc003ozn.2	-	6	528	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F	CRISP2_uc003ozr.2_Missense_Mutation_p.L98F|CRISP2_uc003ozo.2_Missense_Mutation_p.L98F|CRISP2_uc003ozm.2_Missense_Mutation_p.L98F|CRISP2_uc003ozp.2_Missense_Mutation_p.L98F|CRISP2_uc003ozq.2_Missense_Mutation_p.L98F|CRISP2_uc003ozl.2_Missense_Mutation_p.L98F	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	98						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACATATAGAGATTCTCACCA	0.408000														45			33		0	0	0.045705	0	0
CCDC99	54908	broad.mit.edu	37	5	169028327	169028327	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:169028327C>T	uc003mae.4	+	10	1647	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	CCDC99_uc010jjj.3_Silent_p.L385L|CCDC99_uc011deq.2_Silent_p.L273L|CCDC99_uc010jjk.3_Silent_p.L182L	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	456					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGGTGCTCCCTGTGGATA	0.443000														4			44		0	0	0.124865	0	0
OSBPL10	114884	broad.mit.edu	37	3	31743863	31743863	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:31743863C>T	uc021wuu.1	-	6	1904	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	OSBPL10_uc003ceu.1_Missense_Mutation_p.M168I|OSBPL10_uc011axf.2_Missense_Mutation_p.M347I	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	411					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGTCAAATCCATTCCAAGTT	0.428000														27			11		0	0	0.080935	0	0
COL18A1	80781	broad.mit.edu	37	21	46895442	46895442	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr21:46895442A>G	uc002zhi.3	+	3	1352	c.1331A>G	c.(1330-1332)gAg>gGg	p.E444G	COL18A1_uc002zhg.3_Missense_Mutation_p.E264G	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	679	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTTCTCAGGGAGGAGACGGTG	0.677000														2			5		0	0	0.014758	0	0
UNC93A	54346	broad.mit.edu	37	6	167709750	167709750	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:167709750G>A	uc003qvq.3	+	3	674	c.499_splice	c.e3+1	p.E167_splice	UNC93A_uc003qvr.3_Splice_Site_p.G167_splice	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	167						integral to membrane|plasma membrane		p.?(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCAGCCAAGGTAAAAGGAAA	0.502000														52			31		0	0	0.050027	0	0
DLEC1	9940	broad.mit.edu	37	3	38151594	38151594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:38151594G>A	uc003chp.1	+	22	3286	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K	DLEC1_uc003cho.1_Missense_Mutation_p.E1089K|DLEC1_uc010hgv.1_Missense_Mutation_p.E1092K|DLEC1_uc003chr.1_Missense_Mutation_p.E195K|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1089					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTCAGCACAGAGCAGTGGCC	0.602000														41			26		0	0	0.091800	0	0
WAPAL	23063	broad.mit.edu	37	10	88211815	88211815	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:88211815G>A	uc001kdn.3	-	15	3143	c.3134C>T	c.(3133-3135)tCg>tTg	p.S1045L	WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Missense_Mutation_p.S1008L|WAPAL_uc009xsw.3_Missense_Mutation_p.S1002L	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1008	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAAGAGCACGATGTTTCCAT	0.423000														33			27		0	0	0.099896	0	0
CSMD1	64478	broad.mit.edu	37	8	3008933	3008933	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:3008933A>G	uc022aqr.1	-	39	6407	c.6017T>C	c.(6016-6018)tTa>tCa	p.L2006S	CSMD1_uc011kwj.2_Missense_Mutation_p.L1399S|CSMD1_uc003wqe.3_Missense_Mutation_p.L1163S|CSMD1_uc010lrg.3_Missense_Mutation_p.L75S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2007	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCGATGGGTAATGAGATCCT	0.448000														6			5		0	0	0.021553	0	0
SUPT5H	6829	broad.mit.edu	37	19	39960881	39960881	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:39960881C>T	uc002olo.4	+	16	1676	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SUPT5H_uc002olp.4_Silent_p.F499F|SUPT5H_uc002olq.4_Silent_p.F495F|SUPT5H_uc002oln.4_Silent_p.F499F|SUPT5H_uc002olr.4_Silent_p.F499F|SUPT5H_uc002ols.1_Silent_p.F122F|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	499	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGAGAATTTCGTTATCCTGT	0.552000														87			76		0	0	0.139131	0	0
LPHN3	23284	broad.mit.edu	37	4	62761482	62761482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:62761482G>A	uc010ihh.3	+	7	1786	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	LPHN3_uc003hcq.4_Missense_Mutation_p.G538E|LPHN3_uc003hcs.1_Missense_Mutation_p.G367E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	538					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTCCTGATGGAATTTGGGAT	0.373000														14			9		0	0	0.058154	0	0
ABCC8	6833	broad.mit.edu	37	11	17498277	17498277	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:17498277C>A	uc001mnc.3	-	0	173	c.47G>T	c.(46-48)cGg>cTg	p.R16L	ABCC8_uc010rcy.1_Missense_Mutation_p.R16L|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	16					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGGTCCACCCGGTAGGCGGC	0.682000														238			5		0.00116845	0.00135707	0.021553	1	0
MMP15	4324	broad.mit.edu	37	16	58079224	58079224	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr16:58079224G>A	uc002ena.3	+	9	2857	c.1884G>A	c.(1882-1884)atG>atA	p.M628I		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	628					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACGTGGTGATGGTGCTGGTGC	0.662000														21			13		0	0	0.105934	0	0
DNAH11	8701	broad.mit.edu	37	7	21658816	21658816	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:21658816G>A	uc003svc.3	+	23	4399	c.4368G>A	c.(4366-4368)gcG>gcA	p.A1456A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1456	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1456V(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGACAAGGCGGTGAAAGAGC	0.443000									Kartagener syndrome					14			11		0	0	0.069234	0	0
STAB2	55576	broad.mit.edu	37	12	103984724	103984724	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:103984724G>A	uc001tjw.3	+	1	317	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	44					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R44R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCGAGTGCCGATCCTGCGCT	0.433000														37			31		0	0	0.134883	0	0
CSMD3	114788	broad.mit.edu	37	8	113275867	113275867	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:113275867C>T	uc003ynu.3	-	61	10021	c.9862_splice	c.e61+1	p.P3288_splice	CSMD3_uc003yns.3_Splice_Site_p.P2490_splice|CSMD3_uc003ynt.3_Splice_Site_p.P3248_splice|CSMD3_uc011lhx.2_Splice_Site_p.P3119_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3288	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATACTTACGTAAGCACTG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				12			10		0	0	0.069234	0	0
ACAN	176	broad.mit.edu	37	15	89402420	89402420	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr15:89402420C>T	uc010upo.1	+	11	6978	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	ACAN_uc010upp.1_Silent_p.L2202L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2202					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCGGAGACCTGTCTGGTCA	0.602000														40			42		0	0	0.111260	0	0
OR7G1	125962	broad.mit.edu	37	19	9225585	9225585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:9225585C>T	uc021uoi.1	-	0	855	c.855G>A	c.(853-855)atG>atA	p.M285I	OR7G1_uc002mks.1_Missense_Mutation_p.M285I	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGAAGGGGTTCATCATTTGAG	0.443000														42			47		0	0	0.139131	0	0
GLRA3	8001	broad.mit.edu	37	4	175709987	175709987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:175709987C>T	uc003ity.1	-	1	682	c.179G>A	c.(178-180)aGa>aAa	p.R60K	GLRA3_uc003itz.1_Missense_Mutation_p.R60K	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	60					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGGTCTGATTCTTGCATCATA	0.358000														33			24		0	0	0.108266	0	0
PYGM	5837	broad.mit.edu	37	11	64522219	64522219	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:64522219G>A	uc001oax.4	-	7	1762	c.945C>T	c.(943-945)tcC>tcT	p.S315S	PYGM_uc001oay.4_Silent_p.S227S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	315					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCCGAACTTGGAAGACTTGA	0.587000														19			11		0	0	0.080935	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:95522727C>A	uc010fhp.3	-	0		c.94G>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.R64L(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CTGCTTGTCCCGGGCGTCCAG	0.731000														56			5		0.000274275	0.000321436	0.047766	1	0
CEP164	22897	broad.mit.edu	37	11	117241991	117241991	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:117241991C>T	uc001prc.3	+	8	1108	c.961C>T	c.(961-963)Cct>Tct	p.P321S	CEP164_uc001prb.3_Missense_Mutation_p.P321S|CEP164_uc010rxk.1_Missense_Mutation_p.P295S|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	321					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGAGTGAACCTAAGATTTG	0.527000														11			83		0	0	0.139131	0	0
DPYD	1806	broad.mit.edu	37	1	97981303	97981303	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:97981303G>A	uc001drv.3	-	12	1856	c.1719C>T	c.(1717-1719)acC>acT	p.T573T		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	573					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAAAGTTTTGGTGAGGGCAA	0.333000														38			35		0	0	0.080422	0	0
GFRAL	389400	broad.mit.edu	37	6	55216059	55216059	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:55216059G>A	uc003pcm.1	+	4	465	c.379G>A	c.(379-381)Ggg>Agg	p.G127R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	127						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGATTCAAAGGGATGTGGTC	0.433000														100			86		0	0	0.139131	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106685403	106685403	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:106685403G>A	uc003vdx.3	+	0	226	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	17	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AGGGCTTCACGGTGGAGGTGC	0.726000														8			3		0	0	0.115264	0	0
MEMO1	51072	broad.mit.edu	37	2	32093518	32093518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:32093518G>A	uc002rnx.3	-	8	1188	c.806C>T	c.(805-807)tCg>tTg	p.S269L	MEMO1_uc010ymu.2_Missense_Mutation_p.S246L|MEMO1_uc010ezq.3_Missense_Mutation_p.S269L|MEMO1_uc002rny.3_Non-coding_Transcript|MEMO1_uc002rnz.3_Non-coding_Transcript	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA.	269					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATTCAAAAACGAAAAACTCAT	0.423000														8			4		0	0	0.014758	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973529	31973529	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:31973529G>A	uc010gek.3	-	6	927	c.803C>T	c.(802-804)cCt>cTt	p.P268L	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.P178L|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.P268L|CDK5RAP1_uc002wza.3_Missense_Mutation_p.P268L|CDK5RAP1_uc010gel.3_Missense_Mutation_p.P178L|CDK5RAP1_uc010gem.3_Missense_Mutation_p.P268L|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.P268L|CDK5RAP1_uc010gen.3_Missense_Mutation_p.P268L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	268					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCGGGTGAAAGGAACAATGCA	0.498000														181			41		0	0	0.092188	0	0
SLC6A20	54716	broad.mit.edu	37	3	45801384	45801384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:45801384C>T	uc011bai.2	-	9	1718	c.1594G>A	c.(1594-1596)Ggg>Agg	p.G532R	SLC6A20_uc003cow.3_Missense_Mutation_p.G182R|SLC6A20_uc011baj.2_Missense_Mutation_p.G495R	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	532					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTCAGGGTCCCCGTGAGGATG	0.587000														73			69		0	0	0.139131	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				84			70		6.88731e-43	8.45409e-43	0.139131	1	0
AMBP	259	broad.mit.edu	37	9	116823799	116823799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:116823799G>A	uc004bie.4	-	7	1021	c.758C>T	c.(757-759)tCc>tTc	p.S253F	AMBP_uc011lxk.2_Missense_Mutation_p.S194F|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	253	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACAGGCCATGGATGTACCATT	0.562000														52			49		0	0	0.139131	0	0
UNK	85451	broad.mit.edu	37	17	73780856	73780856	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr17:73780856G>A	uc002jpm.3	+	1	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGTGTGGGGGGTCTTCACGT	0.612000														13			7		0	0	0.047766	0	0
MN1	4330	broad.mit.edu	37	22	28194068	28194068	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr22:28194068G>A	uc003adj.3	-	0	3419	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	822							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGCAGCTCTGGCCGAACAGG	0.627000			T	ETV6	"""AML, meningioma"""									10			44		0	0	0.117977	0	0
ZNF701	55762	broad.mit.edu	37	19	53085502	53085502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:53085502G>A	uc010ydn.2	+	4	451	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	ZNF701_uc002pzs.2_Missense_Mutation_p.G64S|ZNF701_uc021uyw.1_Missense_Mutation_p.G130S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AACAGGACAAGGCAATACAGA	0.358000														33			26		0	0	0.134883	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975833	32975833	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:32975833C>T	uc003ocr.3	-	1	364	c.288G>A	c.(286-288)ctG>ctA	p.L96L	HLA-DOA_uc010juj.3_Silent_p.L66L|HLA-DOA_uc010jui.3_Silent_p.L96L	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	96	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCAGGATGTCCAGATGGGCTT	0.637000														54			25		0	0	0.099896	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083437	6083437	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:6083437C>T	uc010idb.1	-	5	1486	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E169K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E334K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E334K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E169K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E334K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E334K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	334	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGTTCTTCTCCACCAGGGGC	0.522000														33			31		0	0	0.045705	0	0
TTYH3	80727	broad.mit.edu	37	7	2686504	2686504	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:2686504G>A	uc003smp.3	+	1	328	c.141G>A	c.(139-141)ggG>ggA	p.G47G	TTYH3_uc010ksn.3_5'Flank|TTYH3_uc003smq.3_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	47						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGCTCCTGGGGGCCGCCGCCC	0.731000														4			42		0	0	0.139131	0	0
KLF6	1316	broad.mit.edu	37	10	3824211	3824211	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:3824211C>G	uc001iha.3	-	1	565	c.298G>C	c.(298-300)Gag>Cag	p.E100Q	KLF6_uc010qaj.2_Missense_Mutation_p.E100Q|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.E100Q|KLF6_uc001ihb.2_Missense_Mutation_p.E100Q	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	100					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGTTGGTCTCTAAGTTGTAA	0.507000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			121		0	0	0.139131	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739173	15739173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:15739173C>T	uc002nbi.3	+	10	1238	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	CYP4F8_uc010xoj.2_Missense_Mutation_p.P205S	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	393					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCGGTTGCATCCCCCAATCCC	0.612000														62			53		0	0	0.139131	0	0
MST1R	4486	broad.mit.edu	37	3	49933263	49933263	+	Silent	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:49933263C>A	uc003cxy.4	-	11	3111	c.2847G>T	c.(2845-2847)ggG>ggT	p.G949G	MST1R_uc011bdc.2_Silent_p.G900G	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	949					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCCATCTGGCCCTGGCCGCA	0.622000														37			21		5.35356e-11	6.47931e-11	0.076483	1	0
PGD	5226	broad.mit.edu	37	1	10479478	10479478	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:10479478C>T	uc001arc.3	+	11	1304	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	PGD_uc010oak.2_Missense_Mutation_p.S383F	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	405					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GCTCAGGACTCCTGGCGGCGG	0.522000														59			42		0	0	0.131918	0	0
MAT2A	4144	broad.mit.edu	37	2	85770052	85770052	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:85770052C>T	uc002spr.3	+	7	1290	c.980C>T	c.(979-981)cCa>cTa	p.P327L	MAT2A_uc010ysr.2_Missense_Mutation_p.P327L|MAT2A_uc010fgl.2_Missense_Mutation_p.P264L	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	327					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTTTCTCATCCATTATCTATC	0.378000														74			39		0	0	0.098360	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201752	96201752	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:96201752G>A	uc001kjr.2	+	1	1256	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	357				Q -> G (in Ref. 3; CAB43225).		intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGAATCTTCAGAAAACATCCA	0.358000														27			18		0	0	0.049695	0	0
RRP9	9136	broad.mit.edu	37	3	51971239	51971239	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:51971239G>A	uc003dbw.1	-	5	525	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	162					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TGGCAGCAGAGAAGATGGCTG	0.607000														66			64		0	0	0.139131	0	0
CPNE1	8904	broad.mit.edu	37	20	34218407	34218407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:34218407C>T	uc010zvj.2	-	12	1438	c.1071G>A	c.(1069-1071)tcG>tcA	p.S357S	CPNE1_uc002xde.3_Silent_p.S328S|CPNE1_uc002xdf.3_Silent_p.S352S|CPNE1_uc002xdi.3_Silent_p.S352S|CPNE1_uc002xdj.3_Silent_p.S352S|CPNE1_uc002xdl.3_Silent_p.S352S|CPNE1_uc002xdm.3_Silent_p.S352S	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	352	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAATTCATGCGAGACCTGGA	0.488000														587			7		0	0	0.038147	0	0
abParts	0	broad.mit.edu	37	22	22758921	22758921	+	RNA	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr22:22758921G>A	uc021wml.1	+	61		c.6711G>A								Parts of antibodies, mostly variable regions.																		AATAATAAGCGACCCTCAGGG	0.552000														4			164		0	0	0.139131	0	0
X97876	0	broad.mit.edu	37	9	66499739	66499739	+	Silent	SNP	G	A	A	rs150502168	by1000genomes	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:66499739G>A	uc004aee.1	+	0	549	c.549G>A	c.(547-549)ccG>ccA	p.P183P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GCCTGGGACCGTCCATTTTCG	0.602000														55			30		0	0	0.111260	0	0
KIAA0317	9870	broad.mit.edu	37	14	75142897	75142897	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr14:75142897G>A	uc001xqb.3	-	6	1284	c.779C>T	c.(778-780)tCa>tTa	p.S260L	KIAA0317_uc010tut.1_Missense_Mutation_p.S99L	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	260					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		ATTTTGGTATGAAATGCAAGC	0.408000														4			22		0	0	0.062417	0	0
CRB2	286204	broad.mit.edu	37	9	126132627	126132627	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:126132627G>A	uc004bnx.1	+	6	1387	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	CRB2_uc004bnw.1_Missense_Mutation_p.G432E	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	432	EGF-like 9.|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTACCCATGGACCGTTCTGT	0.627000														28			22		0	0	0.083992	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789273	117789273	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:117789273G>A	uc001prs.2	-	1	448	c.302C>T	c.(301-303)tCc>tTc	p.S101F	TMPRSS13_uc009yzr.2_Missense_Mutation_p.S101F|TMPRSS13_uc021qrc.1_Missense_Mutation_p.S101F|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.S101F	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	96					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGACCTGCCGGATGAGGACCT	0.627000														6			19		0	0	0.043863	0	0
CLU	1191	broad.mit.edu	37	8	27462570	27462570	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:27462570G>A	uc003xfy.2	-	4	880	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	CLU_uc003xfw.2_Missense_Mutation_p.P234S|CLU_uc003xfx.2_Missense_Mutation_p.P234S|CLU_uc003xfz.2_Missense_Mutation_p.P234S	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	234					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGCTCGTACGGAGAGAAGGGC	0.592000														47			32		0	0	0.064281	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505869	44505869	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:44505869C>T	uc002xqd.3	+	1	917	c.672C>T	c.(670-672)caC>caT	p.H224H	ZSWIM3_uc010zxg.2_Silent_p.H218H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	224							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCTTGCTACACCGGGTGGAGA	0.557000														171			42		0	0	0.111260	0	0
BIRC6	57448	broad.mit.edu	37	2	32724814	32724814	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:32724814G>A	uc010ezu.3	+	45	8803	c.8669G>A	c.(8668-8670)cGa>cAa	p.R2890Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2890					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R2862L(1)|p.R2890L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGTGCTCGAGCATGCTTT	0.438000														128			87		0	0	0.139131	0	0
OR8B12	219858	broad.mit.edu	37	11	124412728	124412728	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:124412728G>A	uc010sam.2	-	0	823	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTATAGAACAGGGAGGACACT	0.433000														1			36		0	0	0.059317	0	0
PDLIM3	27295	broad.mit.edu	37	4	186435436	186435436	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:186435436G>A	uc003ixw.4	-	3	510	c.386C>T	c.(385-387)cCg>cTg	p.P129L	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron|PDLIM3_uc003ixy.3_3'UTR|PDLIM3_uc003ixz.2_3'UTR	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	129						sarcomere	zinc ion binding	p.P129Q(2)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCTTCGGCCCGGGATCACGAA	0.453000														4			40		0	0	0.124865	0	0
TMEM63C	57156	broad.mit.edu	37	14	77702977	77702977	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr14:77702977C>T	uc001xtf.2	+	8	765	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	TMEM63C_uc010asq.1_Silent_p.L185L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	185						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GAGCAAGCTCCTGTGGCTGCA	0.582000														10			36		0	0	0.069456	0	0
UQCC	55245	broad.mit.edu	37	20	33894523	33894523	+	Silent	SNP	C	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:33894523C>G	uc002xcd.3	-	8	890	c.711G>C	c.(709-711)cgG>cgC	p.R237R	UQCC_uc010zuy.2_Silent_p.R138R|UQCC_uc021wcl.1_Silent_p.R164R|UQCC_uc010zva.2_Silent_p.R100R|UQCC_uc010gfb.3_Silent_p.R211R|UQCC_uc010zvb.2_Silent_p.R169R|UQCC_uc002xcg.3_Silent_p.R103R|UQCC_uc002xcf.3_Silent_p.R125R|UQCC_uc010zuz.2_Silent_p.R82R|UQCC_uc002xcc.3_Silent_p.R50R|UQCC_uc002xch.3_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	237						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTCACATTTCCGGTTGAAGA	0.542000											OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			202		0	0	0.139131	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747973	41747973	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:41747973C>A	uc003gwf.4	-	2	1156	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	266					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A266T(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGGCCCCCAGCCGCAGCCAGG	0.771000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					9			6		2.0095e-06	2.40954e-06	0.029380	1	0
X97876	0	broad.mit.edu	37	9	66500839	66500839	+	RNA	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:66500839T>C	uc004aed.1	+	2		c.932T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		AACCACCTGGTGCCCAGGGCT	0.637000														17			3		0	0	0.069234	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107295	107295	+	RNA	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chrGL000211.1:107295G>A	uc003boa.3	+	4		c.835G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AAACCTTAAGGATATCTACCG	0.443000														692			79		0	0	0.139131	0	0
TAT	6898	broad.mit.edu	37	16	71606176	71606176	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr16:71606176C>T	uc002fap.2	-	5	718	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	207					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GCTGTCTTTTCATCAATTAGA	0.418000														42			24		0	0	0.083992	0	0
FSHB	2488	broad.mit.edu	37	11	30255226	30255226	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:30255226C>T	uc001msl.3	+	2	338	c.269C>T	c.(268-270)tCc>tTc	p.S90F	FSHB_uc001msm.3_Missense_Mutation_p.S90F|FSHB_uc001msn.3_Missense_Mutation_p.S90F	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	90					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CATGCAGATTCCTTGTATACA	0.537000														35			34		0	0	0.064281	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962666	41962666	+	RNA	SNP	T	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:41962666T>G	uc004aca.4	-	2		c.843A>C								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		CCTCCGTTGTTTGTCCATTTA	0.358000														20			3		0	0	0.115264	0	0
PROM2	150696	broad.mit.edu	37	2	95944471	95944471	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:95944471G>A	uc002suk.3	+	8	1186	c.1053G>A	c.(1051-1053)gaG>gaA	p.E351E	PROM2_uc002suh.2_Silent_p.E351E|PROM2_uc002sui.3_Silent_p.E351E|PROM2_uc002suj.3_Silent_p.E5E|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	351						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGCAGGAGAACAGCACCT	0.637000														34			33		0	0	0.059317	0	0
ZNF43	7594	broad.mit.edu	37	19	21991924	21991924	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:21991924C>A	uc002nqj.3	-	3	1045	c.915G>T	c.(913-915)aaG>aaT	p.K305N	ZNF43_uc002nql.3_Missense_Mutation_p.K299N|ZNF43_uc002nqm.3_Missense_Mutation_p.K299N|ZNF43_uc010ecv.3_Missense_Mutation_p.K299N|ZNF43_uc002nqk.3_Missense_Mutation_p.K235N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GATGAATTTTCTTATGTTCAG	0.368000														23			31		4.74835e-14	5.80106e-14	0.045705	1	0
ST13	6767	broad.mit.edu	37	22	41223178	41223178	+	Silent	SNP	T	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr22:41223178T>G	uc003aze.3	-	10	1046	c.903A>C	c.(901-903)ggA>ggC	p.G301G	ST13_uc011aow.2_Silent_p.G291G	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	301	Gly/Met/Pro-rich.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						GCATGCCCCCTCCCATTCCAG	0.453000														8			200		0	0	0.139131	0	0
MAGT1	84061	broad.mit.edu	37	X	77112989	77112989	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chrX:77112989G>T	uc004fof.3	-	3	554	c.492C>A	c.(490-492)aaC>aaA	p.N164K	MAGT1_uc004fog.4_Non-coding_Transcript	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	132					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGAATTCATGTTTAGCTGAA	0.368000														62			5		2.17888e-05	2.57685e-05	0.058154	1	0
ZNF714	148206	broad.mit.edu	37	19	21299966	21299966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:21299966C>T	uc002npo.4	+	4	874	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	ZNF714_uc002npl.3_Missense_Mutation_p.H12Y|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAAAGAATTCATATTAGAGA	0.348000														34			18		0	0	0.043863	0	0
ZNF43	7594	broad.mit.edu	37	19	21991634	21991634	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:21991634T>C	uc002nqj.3	-	3	1335	c.1205A>G	c.(1204-1206)gAa>gGa	p.E402G	ZNF43_uc002nql.3_Missense_Mutation_p.E396G|ZNF43_uc002nqm.3_Missense_Mutation_p.E396G|ZNF43_uc010ecv.3_Missense_Mutation_p.E396G|ZNF43_uc002nqk.3_Missense_Mutation_p.E332G	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTGCCACATTCTTCACATTT	0.363000														25			30		0	0	0.134883	0	0
MLL3	58508	broad.mit.edu	37	7	151849907	151849908	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:151849907_151849908CC>TT	uc003wla.3	-	48	12627_12628	c.12408_12409GG>AA	c.(12406-12411)ttggag>ttAAag	p.E4137K	MLL3_uc003wkz.3_Missense_Mutation_p.E3255K|MLL3_uc003wkx.3_Missense_Mutation_p.E295K|MLL3_uc003wky.3_Missense_Mutation_p.E1701K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4137					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTCGATACTCCAAACCCGGGT	0.520000			N		medulloblastoma									56			47		0	0	0.115264	0	0
TIAM2	26230	broad.mit.edu	37	6	155458566	155458566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:155458566G>A	uc003qqb.3	+	6	2723	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	TIAM2_uc003qqe.3_Missense_Mutation_p.E484K|TIAM2_uc010kjj.3_Missense_Mutation_p.E17K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	484					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAAACCGCCGAGTCCAGCAG	0.532000														63			63		0	0	0.139131	0	0
X97876	0	broad.mit.edu	37	9	66500833	66500833	+	RNA	SNP	A	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:66500833A>C	uc004aed.1	+	2		c.926A>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCATGAAACCACCTGGTGCCC	0.632000														20			3		0	0	0.038147	0	0
WDR1	9948	broad.mit.edu	37	4	10100722	10100722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:10100722C>T	uc021xlv.1	-	3	554	c.271G>A	c.(271-273)Gag>Aag	p.E91K	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	91					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AACAGGTGCTCCTTCTGCGTG	0.597000														47			30		0	0	0.050027	0	0
UBR3	130507	broad.mit.edu	37	2	170930037	170930037	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:170930037C>T	uc010zdi.2	+	35	5119	c.5119C>T	c.(5119-5121)Cca>Tca	p.P1707S	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.P528S|UBR3_uc002uft.4_Missense_Mutation_p.P564S|UBR3_uc010zdj.2_Missense_Mutation_p.P398S|UBR3_uc002ufu.4_Missense_Mutation_p.P213S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1707					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCTGGATTGGCCAGTTCCAGC	0.403000														109			5		0	0	0.021553	0	0
LRIT1	26103	broad.mit.edu	37	10	85991885	85991885	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:85991885C>T	uc001kcz.1	-	3	1692	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	557						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GAAGCACTTTCGGCAGCGCTT	0.567000														19			27		0	0	0.091800	0	0
LPAR4	2846	broad.mit.edu	37	X	78010805	78010805	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chrX:78010805C>T	uc022bzj.1	+	0	439	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	LPAR4_uc010nme.3_Missense_Mutation_p.R147C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	147						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTTTCGATCTCGTACTATTAG	0.463000														4			54		0	0	0.139131	0	0
ROBO2	6092	broad.mit.edu	37	3	77147226	77147226	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:77147226C>T	uc011bgk.2	+	1	766	c.123C>T	c.(121-123)atC>atT	p.I41I	ROBO2_uc021xat.1_Silent_p.I57I|ROBO2_uc003dpy.4_Silent_p.I41I|ROBO2_uc003dpz.3_Silent_p.I41I|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	41	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCGATGTCATCGTCTCTAAGG	0.547000														20			13		0	0	0.093190	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685019	44685019	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:44685019G>A	uc010zxl.1	+	22	3071	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N	SLC12A5_uc002xrb.2_Missense_Mutation_p.D976N	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	999					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTGATCCACGATCAGAGTGC	0.627000														41			8		0	0	0.038147	0	0
C6orf221	154288	broad.mit.edu	37	6	74072991	74072991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:74072991G>A	uc003pgt.4	+	1	396	c.343G>A	c.(343-345)Gcg>Acg	p.A115T		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	115										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CCAGCTCCAGGCGAAAGGTAC	0.582000														46			37		0	0	0.074837	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137376	40137376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:40137376C>T	uc021qgf.1	-	0	467	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	LRRC4C_uc001mxc.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxa.1_Missense_Mutation_p.R156Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R152Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	156					regulation of axonogenesis	integral to membrane	protein binding	p.R156Q(4)|p.R156*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGTTGTTTCGCAACCAGAG	0.428000														53			21		0	0	0.062417	0	0
ADH1B	125	broad.mit.edu	37	4	100237120	100237120	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:100237120C>T	uc003hus.4	-	4	586	c.502G>A	c.(502-504)Gag>Aag	p.E168K	ADH1B_uc003hut.4_Missense_Mutation_p.E128K|ADH1B_uc011ceh.2_Missense_Mutation_p.E13K|ADH1B_uc011cei.1_Missense_Mutation_p.E128K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	168					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGACTTTCTCCAGGGGCGAG	0.517000														72			39		0	0	0.098360	0	0
CMYA5	202333	broad.mit.edu	37	5	79029992	79029992	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:79029992G>A	uc003kgc.3	+	1	5476	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCATCCCAGGTACTCCAGAG	0.393000														72			40		0	0	0.080422	0	0
FCAR	2204	broad.mit.edu	37	19	55401098	55401098	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:55401098C>T	uc002qhr.1	+	4	930	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L196L|FCAR_uc010esi.1_Silent_p.L122L|FCAR_uc002qhu.1_Silent_p.L149L|FCAR_uc002qhv.1_Silent_p.L223L|FCAR_uc002qhw.1_Silent_p.L233L|FCAR_uc002qhx.1_Silent_p.L137L|FCAR_uc002qhy.1_Silent_p.L211L|FCAR_uc002qhz.1_Missense_Mutation_p.T208I|FCAR_uc002qia.1_Silent_p.L136L	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	245					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTTGGCCATACTGGTTGAAAA	0.542000														166			153		0	0	0.139131	0	0
TECR	9524	broad.mit.edu	37	19	14674675	14674675	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:14674675T>A	uc002mza.3	+	4	357	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Missense_Mutation_p.L91Q|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	76					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						ACGGCCACACTGTACTTCCGG	0.642000														29			35		0	0	0.059317	0	0
CDH23	64072	broad.mit.edu	37	10	73437212	73437212	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:73437212G>A	uc001jrx.4	+	15	1899	c.1509_splice	c.e15-1	p.R503_splice	CDH23_uc001jry.3_Splice_Site_p.R503_splice|CDH23_uc001jrz.3_Splice_Site_p.R503_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	505	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGGCACAGGTTCTCGCTG	0.577000														6			3		0	0	0.115264	0	0
FPR2	2358	broad.mit.edu	37	19	52272840	52272840	+	Missense_Mutation	SNP	G	C	C	rs148745659	byFrequency	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:52272840G>C	uc002pxr.3	+	1	974	c.929G>C	c.(928-930)cGa>cCa	p.R310P	FPR2_uc002pxs.4_Missense_Mutation_p.R310P|FPR2_uc010epf.3_Missense_Mutation_p.R310P|FPR2_uc021uyp.1_Missense_Mutation_p.R310P	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	310					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAAGACTTCCGAGAGAGACTG	0.542000														43			37		0	0	0.080422	0	0
PIK3R1	5295	broad.mit.edu	37	5	67576528	67576528	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:67576528C>T	uc003jva.3	+	5	1387	c.807C>T	c.(805-807)agC>agT	p.S269S		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	269	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAATTTTCAGCCCTATGCTTT	0.393000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				30			56		0	0	0.139131	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420033	19420033	+	RNA	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr13:19420033G>A	uc010tcj.1	-	0		c.26077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAAATAAATAGAAAATAACAT	0.249000														6			3		0	0	0.009096	0	0
MCM8	84515	broad.mit.edu	37	20	5953775	5953775	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:5953775C>T	uc002wmk.3	+	11	1825	c.1448C>T	c.(1447-1449)cCa>cTa	p.P483L	MCM8_uc002wmi.3_Missense_Mutation_p.P443L|MCM8_uc002wmj.3_Missense_Mutation_p.P427L|MCM8_uc002wml.3_Missense_Mutation_p.P443L|MCM8_uc010gbp.3_Intron|MCM8_uc002wmm.3_5'UTR	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	443	MCM.|Thr-rich.				DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AACAGAATTCCAATTCGGGGA	0.413000														34			48		0	0	0.139131	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535148	96535148	+	Splice_Site	SNP	A	G	G	rs5030781		TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:96535148A>G	uc010qnz.2	+	3	332	c.332_splice	c.e3-1	p.G111_splice	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Splice_Site_p.G89_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	111					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCTGTTAGGAATCGTTTTCA	0.532000														34			38		0	0	0.080422	0	0
TP63	8626	broad.mit.edu	37	3	189455576	189455576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:189455576G>A	uc003fry.2	+	1	199	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	TP63_uc003frx.2_Missense_Mutation_p.R37Q|TP63_uc003frz.2_Missense_Mutation_p.R37Q|TP63_uc010hzc.1_Missense_Mutation_p.R37Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	37	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTTATTACCGATCCACCATG	0.373000										HNSCC(45;0.13)				29			23		0	0	0.091800	0	0
DNAH5	1767	broad.mit.edu	37	5	13735336	13735336	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:13735336C>T	uc003jfd.2	-	67	11707	c.11665G>A	c.(11665-11667)Gag>Aag	p.E3889K	DNAH5_uc003jfc.2_Missense_Mutation_p.E57K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3889					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y3888*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGTGCTCCTCGTACAGCCCT	0.458000									Kartagener syndrome					72			23		0	0	0.076483	0	0
OR2T12	127064	broad.mit.edu	37	1	248458416	248458416	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:248458416G>A	uc010pzj.2	-	0	465	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGCCTGCAGGAGGCCGTCAG	0.607000														47			43		0	0	0.131918	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														56			16		0	0	0.054565	0	0
HHLA2	11148	broad.mit.edu	37	3	108072555	108072555	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:108072555G>A	uc003dwz.3	+	3	760	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HHLA2_uc011bhl.2_Missense_Mutation_p.E52K|HHLA2_uc010hpu.3_Missense_Mutation_p.E116K|HHLA2_uc003dwy.4_Missense_Mutation_p.E116K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	116	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCTTCTGGACGAAGGAATTTA	0.398000														36			22		0	0	0.069288	0	0
NCOR2	9612	broad.mit.edu	37	12	124856917	124856917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:124856917G>A	uc021rga.1	-	19	2575	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	NCOR2_uc021rgb.1_Missense_Mutation_p.P803S|NCOR2_uc010tbb.2_Missense_Mutation_p.P820S|NCOR2_uc010tbc.2_Missense_Mutation_p.P802S|NCOR2_uc021rgc.1_Missense_Mutation_p.P802S|NCOR2_uc010tba.2_Missense_Mutation_p.P820S|NCOR2_uc001ugj.1_Missense_Mutation_p.P820S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	820	Pro-rich.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGACCACAGGAGGAGGTGCA	0.716000														10			7		0	0	0.029380	0	0
SP140	11262	broad.mit.edu	37	2	231177389	231177389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:231177389G>A	uc002vql.3	+	26	2709	c.2594G>A	c.(2593-2595)gGg>gAg	p.G865E	SP140_uc010zma.1_Intron|SP140_uc002vqn.3_Missense_Mutation_p.G751E|SP140_uc002vqm.3_Missense_Mutation_p.G805E|SP140_uc010fxl.3_Missense_Mutation_p.G838E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	865					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAACAAATGGGAACAATTGA	0.408000														41			22		0	0	0.083992	0	0
KRT13	3860	broad.mit.edu	37	17	39659243	39659243	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr17:39659243G>A	uc002hwu.1	-	3	906	c.843C>T	c.(841-843)taC>taT	p.Y281Y	KRT13_uc002hwv.1_Silent_p.Y281Y|KRT13_uc010wfr.2_Silent_p.Y174Y|KRT13_uc010cxo.3_Silent_p.Y281Y|KRT13_uc021txk.1_Silent_p.Y174Y	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	281	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCATGGCCTCGTACTGCTCCC	0.612000														110			101		0	0	0.139131	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281709	100281709	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:100281709G>A	uc003uwg.1	-	14	2811	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	601	Gln-rich.|Poly-Pro.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGCTGTGGCGGCGGCGGTGG	0.677000														18			21		0	0	0.099896	0	0
BBS7	55212	broad.mit.edu	37	4	122749834	122749834	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:122749834G>A	uc003ied.3	-	15	1910	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	BBS7_uc003iee.2_Silent_p.L576L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	576					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACATCTTTTAGGATGGAGATA	0.269000									Bardet-Biedl syndrome					22			14		0	0	0.033300	0	0
MST1P2	11209	broad.mit.edu	37	1	16974666	16974666	+	RNA	SNP	C	T	T	rs28503658	by1000genomes	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:16974666C>T	uc010och.2	+	6		c.1126C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGATCCGGCGTTGTACAGA	0.697000														32			4		0	0	0.047766	0	0
DMGDH	29958	broad.mit.edu	37	5	78359493	78359493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:78359493C>T	uc003kfs.3	-	1	225	c.219G>A	c.(217-219)atG>atA	p.M73I	DMGDH_uc011ctf.1_Missense_Mutation_p.E29K|DMGDH_uc011ctg.1_5'UTR	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	73					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCACATCTTTCATCCCTGCTT	0.488000														68			36		0	0	0.064281	0	0
DICER1	23405	broad.mit.edu	37	14	95571499	95571499	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr14:95571499G>A	uc001ydw.2	-	20	3390	c.3178C>T	c.(3178-3180)Cgc>Tgc	p.R1060C	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_Missense_Mutation_p.R1060C|DICER1_uc001ydv.2_Missense_Mutation_p.R1050C|DICER1_uc001ydx.2_Missense_Mutation_p.R1060C|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_Missense_Mutation_p.R342C	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1060					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGTGAAGGCGATAAAGTATG	0.498000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					86			6		0	0	0.029380	0	0
DSCR10	259234	broad.mit.edu	37	21	39580587	39580587	+	RNA	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr21:39580587G>A	uc010gnt.2	+	2		c.709G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		CTAACATTTGGAAACATTTAG	0.353000														14			84		0	0	0.139131	0	0
ALG10	84920	broad.mit.edu	37	12	34179315	34179315	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:34179315C>T	uc001rlm.3	+	2	1206	c.887C>T	c.(886-888)tCa>tTa	p.S296L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	296					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TACTTTTTTTCATTTACTCTC	0.348000														80			47		0	0	0.139131	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375733	104375733	+	Silent	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:104375733A>G	uc004bbp.2	-	5	3292	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	GRIN3A_uc004bbq.1_Silent_p.H897H	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	897					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCATAAACCCATGTGACTTGT	0.458000														34			26		0	0	0.099896	0	0
PCNA	5111	broad.mit.edu	37	20	5100229	5100229	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:5100229G>A	uc002wlp.3	-	0	419	c.216C>T	c.(214-216)ctC>ctT	p.L72L	PCNA_uc002wlq.3_Silent_p.L72L|PCNA_uc010zqs.1_Silent_p.L72L|PCNA-AS1_uc021wai.1_5'Flank	NM_182649	NP_872590	P12004	PCNA_HUMAN	Homo sapiens proliferating cell nuclear antigen (PCNA), transcript variant 2, mRNA.	72	Interaction with NUDT15.				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell proliferation|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	DNA replication factor C complex|PCNA complex|PCNA-p21 complex|cytoplasm|microtubule cytoskeleton|nuclear replication fork|nucleoplasm	DNA polymerase processivity factor activity|MutLalpha complex binding|dinucleotide insertion or deletion binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CTCACCTGGTGAGGTTCACGC	0.692000								DNA polymerases (catalytic subunits)						27			6		0	0	0.038147	0	0
PLBD1	79887	broad.mit.edu	37	12	14659974	14659974	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:14659974A>C	uc001rcc.1	-	8	1426	c.1265T>G	c.(1264-1266)cTg>cGg	p.L422R		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	422					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCCAAGCCCAGCTTCTGAAC	0.443000														51			53		0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179505295	179505295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:179505295C>T	uc021vsy.1	-	169	33217	c.32992G>A	c.(32992-32994)Gaa>Aaa	p.E10998K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E4693K|TTN_uc021vta.1_Missense_Mutation_p.E4626K|TTN_uc021vtb.1_Missense_Mutation_p.E4501K|TTN_uc010fre.1_Missense_Mutation_p.E876K|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Missense_Mutation_p.E213K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11925	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T10998R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTCCTTTCCCTTTTTGTA	0.318000														78			49		0	0	0.139131	0	0
FAM173B	134145	broad.mit.edu	37	5	10236718	10236718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:10236718C>T	uc003jeo.2	-	2	345	c.316G>A	c.(316-318)Gct>Act	p.A106T	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.A106T	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	106						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TTCTTCGCAGCCGCTATGACC	0.408000														23			33		0	0	0.059317	0	0
MYO18B	84700	broad.mit.edu	37	22	26194047	26194047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr22:26194047C>T	uc003abz.1	+	11	2754	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V	MYO18B_uc003aca.1_Missense_Mutation_p.A716V|MYO18B_uc010guy.1_Missense_Mutation_p.A716V|MYO18B_uc010guz.1_Missense_Mutation_p.A716V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.A835E(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCTGGGTGCGGCGGGGGCC	0.662000														2			10		0	0	0.093190	0	0
ABCB1	5243	broad.mit.edu	37	7	87144571	87144571	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:87144571G>A	uc003uiz.2	-	25	3751	c.3258C>T	c.(3256-3258)ttC>ttT	p.F1086F	ABCB1_uc011khc.2_Silent_p.F1022F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1086	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R1085W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGGGGTCGTAGAACCGCTCCA	0.517000														33			24		0	0	0.116897	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508690	24508690	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:24508690T>C	uc001iru.4	+	1	609	c.206T>C	c.(205-207)cTa>cCa	p.L69P	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.L69P|KIAA1217_uc010qcy.2_Missense_Mutation_p.L69P|KIAA1217_uc010qcz.2_Missense_Mutation_p.L69P	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	69					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGACACACCCTAGGGGGGCCC	0.502000														44			27		0	0	0.116897	0	0
C1orf9	51430	broad.mit.edu	37	1	172546697	172546697	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:172546697A>G	uc001giq.4	+	11	1598	c.1282A>G	c.(1282-1284)Aag>Gag	p.K428E	C1orf9_uc010pmm.1_Missense_Mutation_p.K428E|C1orf9_uc009wwd.3_Intron|C1orf9_uc010pmn.2_Missense_Mutation_p.K391E|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	428	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CAAGTACATAAAGGTTAGCAA	0.318000														32			19		0	0	0.043863	0	0
CADM2	253559	broad.mit.edu	37	3	86010782	86010782	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:86010782G>A	uc003dql.3	+	6	934	c.934G>A	c.(934-936)Gtt>Att	p.V312I	CADM2_uc003dqj.3_Missense_Mutation_p.V310I|CADM2_uc003dqk.3_Missense_Mutation_p.V319I|CADM2_uc003dqm.2_Missense_Mutation_p.V202I|CADM2_uc021xay.1_Missense_Mutation_p.V202I|CADM2_uc021xaz.1_Missense_Mutation_p.V202I|CADM2_uc021xba.1_Missense_Mutation_p.V202I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	310	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCGGAATATGTTCTCATTGT	0.358000														44			26		0	0	0.108266	0	0
ARMC4	55130	broad.mit.edu	37	10	28270414	28270414	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:28270414G>A	uc009xky.3	-	6	1015	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_5'UTR|ARMC4_uc001itz.3_Missense_Mutation_p.S306L|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	306							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATATTTTCTGAAAATTTTGG	0.289000														52			38		0	0	0.074837	0	0
ETV5	2119	broad.mit.edu	37	3	185783821	185783821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:185783821G>A	uc003fpy.3	-	7	882	c.817C>T	c.(817-819)Cct>Tct	p.P273S	ETV5_uc003fpz.3_Missense_Mutation_p.P231S	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	231					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCTGGCTGAGGAGGGAAGGGG	0.488000			T	"""TMPRSS2, SCL45A3"""	Prostate									37			32		0	0	0.045705	0	0
MARCH6	10299	broad.mit.edu	37	5	10430029	10430029	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:10430029T>A	uc003jet.1	+	24	2714	c.2531T>A	c.(2530-2532)tTa>tAa	p.L844*	MARCH6_uc011cmu.1_Nonsense_Mutation_p.L796*|MARCH6_uc003jeu.1_Nonsense_Mutation_p.L542*|MARCH6_uc011cmv.1_Nonsense_Mutation_p.L739*	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	844					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGCAAAACTTAGTCCATCGG	0.388000														26			46		0	0	0.139131	0	0
NWD1	284434	broad.mit.edu	37	19	16861034	16861034	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:16861034C>T	uc002neu.4	+	5	2003	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	NWD1_uc002net.4_Silent_p.L392L|NWD1_uc002nev.4_Silent_p.L321L|NWD1_uc021uqg.1_Silent_p.L392L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	527	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCAGCCTCCCAGAGTGTG	0.642000														36			33		0	0	0.069456	0	0
DMRT3	58524	broad.mit.edu	37	9	990879	990879	+	Silent	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:990879A>G	uc003zgw.1	+	1	1331	c.1293A>G	c.(1291-1293)gaA>gaG	p.E431E		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	431					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCGCCACGGAAGACCCTCGGA	0.547000														42			38		0	0	0.080422	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221515	1221515	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:1221515C>T	uc001adt.1	+	6	994	c.768C>T	c.(766-768)tcC>tcT	p.S256S	SCNN1D_uc001adu.1_Silent_p.S92S|SCNN1D_uc001adw.2_Silent_p.S158S|SCNN1D_uc001adv.2_Silent_p.S92S|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGCTGCTGTCCCTGGGAGCCC	0.677000														11			9		0	0	0.058154	0	0
SACS	26278	broad.mit.edu	37	13	23915199	23915199	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr13:23915199G>A	uc001uon.2	-	9	3405	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	SACS_uc001uoo.2_Missense_Mutation_p.S792F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	939					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTATAAGAGGAAATTCCCTG	0.363000														41			66		0	0	0.139131	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000														84			8		0	0	0.069234	0	0
MARCH1	55016	broad.mit.edu	37	4	164506934	164506934	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:164506934G>A	uc003iqs.2	-	5	572	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MARCH1_uc003iqr.2_Silent_p.F113F	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	130					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.F113F(1)|p.F130F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCATTATGAAGTCATACT	0.493000														86			44		0	0	0.139131	0	0
BMP5	653	broad.mit.edu	37	6	55684502	55684502	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:55684502C>T	uc003pcq.3	-	1	1346	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	BMP5_uc011dxf.2_Missense_Mutation_p.E212K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	212					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTAATTGTTTCATTTTCAAAT	0.323000														23			24		0	0	0.108266	0	0
EFR3A	23167	broad.mit.edu	37	8	132998461	132998461	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:132998461G>A	uc003yte.3	+	16	2094	c.1890G>A	c.(1888-1890)atG>atA	p.M630I		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	630						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCGAACTATGGAAGCCCCTT	0.333000														28			8		0	0	0.093190	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695411	48695411	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr17:48695411G>A	uc002irk.1	+	30	5601	c.5229G>A	c.(5227-5229)gtG>gtA	p.V1743V	CACNA1G_uc002irj.1_Silent_p.V1709V|CACNA1G_uc002irl.1_Silent_p.V1720V|CACNA1G_uc002irm.1_Silent_p.V1709V|CACNA1G_uc002irn.1_Silent_p.V1702V|CACNA1G_uc002iro.1_Silent_p.V1709V|CACNA1G_uc002irp.1_Silent_p.V1743V|CACNA1G_uc002irq.1_Silent_p.V1720V|CACNA1G_uc002irr.1_Silent_p.V1743V|CACNA1G_uc002irs.1_Silent_p.V1732V|CACNA1G_uc002irt.1_Silent_p.V1725V|CACNA1G_uc002iru.1_Silent_p.V1709V|CACNA1G_uc002irv.1_Silent_p.V1732V|CACNA1G_uc002irw.1_Silent_p.V1720V|CACNA1G_uc002irx.1_Silent_p.V1656V|CACNA1G_uc002iry.1_Silent_p.V1645V|CACNA1G_uc002isg.1_Silent_p.V1604V|CACNA1G_uc002ish.1_Silent_p.V1611V|CACNA1G_uc002isi.1_Silent_p.V1599V|CACNA1G_uc002irz.1_Silent_p.V1649V|CACNA1G_uc002isa.1_Silent_p.V1622V|CACNA1G_uc002isd.1_Silent_p.V1631V|CACNA1G_uc002isb.1_Silent_p.V1663V|CACNA1G_uc002isc.1_Silent_p.V1645V|CACNA1G_uc002ise.1_Silent_p.V1611V|CACNA1G_uc002isf.1_Silent_p.V1638V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1743					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTTCCAGGTGGGGAACCTGG	0.557000														23			19		0	0	0.055883	0	0
CCDC60	160777	broad.mit.edu	37	12	119968748	119968748	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:119968748G>A	uc001txe.3	+	12	1896	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	477										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATCCTGGTGAAACTGCAGA	0.498000														50			51		0	0	0.139131	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071977	100071977	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:100071977G>A	uc003uva.3	-	2	1604	c.849C>T	c.(847-849)ttC>ttT	p.F283F	TSC22D4_uc011kjv.2_Silent_p.F44F|TSC22D4_uc010lgx.3_Silent_p.F283F|TSC22D4_uc003uvc.4_Silent_p.F283F	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	283					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTACTGCTCCGAAGGGGTCTG	0.607000														29			27		0	0	0.099896	0	0
CCDC146	57639	broad.mit.edu	37	7	76903049	76903049	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:76903049G>A	uc003uga.3	+	9	1339	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	CCDC146_uc010ldp.3_Intron	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	404										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CATTATCTGAGAGAAGGCGAG	0.378000														54			46		0	0	0.139131	0	0
GLRB	2743	broad.mit.edu	37	4	158059978	158059978	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:158059978G>A	uc003ipj.2	+	6	830	c.628G>A	c.(628-630)Gat>Aat	p.D210N	GLRB_uc021xtp.1_Missense_Mutation_p.D210N|GLRB_uc021xtq.1_Missense_Mutation_p.D210N	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	210					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.D210N(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CACAACTGATGATTTACGATT	0.259000														56			38		0	0	0.117977	0	0
LOC100131347	100131347	broad.mit.edu	37	17	37263782	37263783	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr17:37263782_37263783GG>AA	uc002hrf.1	+	2	337_338	c.306_307GG>AA	c.(304-309)tgggga>tgAAga	p.102_103WG>*R	PLXDC1_uc002hrg.2_Intron|PLXDC1_uc002hrh.2_Intron|PLXDC1_uc002hri.2_Intron|PLXDC1_uc002hrj.1_Intron|PLXDC1_uc002hrk.1_Intron					Homo sapiens RAD52 motif 1 pseudogene (LOC100131347), non-coding RNA.																		ACTGTCCCTGGGGAGAAGAACA	0.604000														23			14		0	0	0.115264	0	0
COL7A1	1294	broad.mit.edu	37	3	48609941	48609941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:48609941C>T	uc003ctz.2	-	87	6932	c.6931G>A	c.(6931-6933)Gag>Aag	p.E2311K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2311	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACCTTCTCTCCCTTTGCT	0.647000														34			34		0	0	0.098360	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:95522815A>G	uc010fhp.3	-	0		c.6T>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATCTTCTGCAATTCGGAGTCC	0.652000														85			4		0	0	0.047766	0	0
VN1R5	317705	broad.mit.edu	37	1	247419455	247419455	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:247419455C>T	uc010pyu.2	+	0	82	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	28					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CACAGATATCCTTTGCTTTAA	0.328000														66			48		0	0	0.124865	0	0
KLHL23	151230	broad.mit.edu	37	2	170592455	170592455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:170592455G>A	uc002ufh.2	+	3	1306	c.931G>A	c.(931-933)Gag>Aag	p.E311K	KLHL23_uc002ufi.2_Missense_Mutation_p.E311K	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	311										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTATACCAGGGAGAGCTATGG	0.423000														69			60		0	0	0.139131	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078116	46078116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr21:46078116G>A	uc002zft.3	+	0	268	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	74	14 X 5 AA approximate repeats.					intermediate filament		p.S73L(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAATCTTCGGGGTGCTGCCA	0.647000														6			40		0	0	0.098360	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														15			3		0	0	0.115264	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000														73			6		0	0	0.047766	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609948	84609948	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:84609948G>A	uc004amn.3	+	3	4610	c.4563G>A	c.(4561-4563)agG>agA	p.R1521R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1521						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TGCCCCACAGGAAGCCTGTGC	0.537000														16			10		0	0	0.058154	0	0
ZMYM3	9203	broad.mit.edu	37	X	70467680	70467680	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chrX:70467680C>A	uc004dzh.2	-	11	2231	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.Q684H|ZMYM3_uc004dzj.2_Missense_Mutation_p.Q684H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	684					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGGCAGGTCTGGGAGCAGT	0.527000														0			13		0.000219431	0.000258331	0.119110	1	0
PRR5L	79899	broad.mit.edu	37	11	36467960	36467960	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:36467960G>A	uc001mwo.4	+	6	944	c.555G>A	c.(553-555)tcG>tcA	p.S185S	PRR5L_uc001mwp.3_Silent_p.S185S|PRR5L_uc009ykk.3_Intron|PRR5L_uc010rfc.2_Silent_p.S185S	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	185										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGCTGCCCTCGTCCATTGTCC	0.587000														29			24		0	0	0.108266	0	0
DSN1	79980	broad.mit.edu	37	20	35387003	35387003	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:35387003G>A	uc010gfr.3	-	6	981	c.608C>T	c.(607-609)tCt>tTt	p.S203F	DSN1_uc002xfz.3_Missense_Mutation_p.S203F|DSN1_uc002xfy.4_5'UTR|DSN1_uc010zvs.2_Missense_Mutation_p.S96F|DSN1_uc002xga.3_Missense_Mutation_p.S203F|DSN1_uc002xgc.3_Missense_Mutation_p.S187F|DSN1_uc002xgb.3_Missense_Mutation_p.S187F	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	203					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGCTTCCAAAGAAAAATCTGA	0.289000														134			43		0	0	0.139131	0	0
ORM1	5004	broad.mit.edu	37	9	117085950	117085950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:117085950G>A	uc004bik.4	+	1	233	c.122G>A	c.(121-123)gGc>gAc	p.G41D	ORM1_uc011lxo.2_Missense_Mutation_p.G41D	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	41					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	CAGATCACTGGCAAGTGGTTT	0.498000														54			40		0	0	0.111260	0	0
PCLO	27445	broad.mit.edu	37	7	82582166	82582166	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:82582166C>T	uc003uhx.2	-	4	8392	c.8103G>A	c.(8101-8103)gaG>gaA	p.E2701E	PCLO_uc003uhv.2_Silent_p.E2701E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2632					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGCAAGAGGCTCTGGAGGAA	0.403000														27			14		0	0	0.119110	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015491	203015491	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:203015491G>A	uc009xaj.3	+	12	1562	c.1562G>A	c.(1561-1563)aGa>aAa	p.R521K	PPFIA4_uc010pqf.2_Missense_Mutation_p.R81K			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	0	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGGCCCAGAGAATTGCAGCC	0.652000														7			4		0	0	0.009096	0	0
TMEM26	219623	broad.mit.edu	37	10	63170314	63170314	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr10:63170314C>T	uc001jlo.2	-	5	1242	c.873G>A	c.(871-873)gcG>gcA	p.A291A	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	291						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGAAGTTCTTCGCGGCAAAGA	0.507000														32			19		0	0	0.038395	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675835	116675835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr1:116675835G>A	uc001egc.1	+	6	1203	c.938G>A	c.(937-939)aGg>aAg	p.R313K		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	313										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CGCCTGGTGAGGAAACTGCAC	0.512000														28			28		0	0	0.125774	0	0
CPNE9	151835	broad.mit.edu	37	3	9754249	9754249	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:9754249G>A	uc021wst.1	+	7	573	c.402G>A	c.(400-402)ggG>ggA	p.G134G	CPNE9_uc003bsd.3_Silent_p.G133G	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	134	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAGTGTGGGACCATATTGC	0.532000														50			28		0	0	0.050027	0	0
LANCL2	55915	broad.mit.edu	37	7	55466279	55466279	+	Silent	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:55466279T>C	uc003tqp.3	+	2	1064	c.486T>C	c.(484-486)taT>taC	p.Y162Y		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	162					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTGTGATTTATCACAAACTCA	0.488000														40			13		0	0	0.119110	0	0
FAM179A	165186	broad.mit.edu	37	2	29240119	29240119	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:29240119C>A	uc010ezl.3	+	8	1495	c.1144C>A	c.(1144-1146)Cag>Aag	p.Q382K	FAM179A_uc010ymm.2_Missense_Mutation_p.Q382K|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	382							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGACAGGGCAGGAGCTCAC	0.602000														35			17		0.000566183	0.000660547	0.033300	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125282027	125282027	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:125282027G>T	uc010flu.3	+	8	1839	c.1475G>T	c.(1474-1476)gGa>gTa	p.G492V	CNTNAP5_uc002tno.3_Missense_Mutation_p.G491V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	491	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACTATTTTGGAGGTAAATTC	0.438000														10			4		2.56e-06	3.05548e-06	0.009096	1	0
ODF2	4957	broad.mit.edu	37	9	131256911	131256911	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:131256911C>T	uc004bvc.3	+	16	2153	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	ODF2_uc011maz.2_Silent_p.I625I|ODF2_uc011mbc.2_Silent_p.I544I|ODF2_uc022boj.1_Silent_p.I621I|ODF2_uc004bva.3_Silent_p.I669I|ODF2_uc004bvb.3_Silent_p.I601I|ODF2_uc011mbd.2_Silent_p.I625I|ODF2_uc011mbe.2_Silent_p.I620I|ODF2_uc011mbf.2_Silent_p.I606I|ODF2_uc004bvd.4_Silent_p.I625I|ODF2_uc004bve.3_Silent_p.I606I|ODF2_uc004bvh.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	625					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAAGAACATCGACCTCACAG	0.597000														32			26		0	0	0.108266	0	0
GALNT8	26290	broad.mit.edu	37	12	4835834	4835834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:4835834G>A	uc001qne.1	+	1	440	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	116						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.M116I(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAACCCAAATGAAACTCTTCC	0.498000														17			15		0	0	0.119110	0	0
TSN	7247	broad.mit.edu	37	2	122522899	122522899	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:122522899C>T	uc002tnl.3	+	5	878	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	TSN_uc002tnm.3_Missense_Mutation_p.R168W|TSN_uc010yze.2_3'UTR|TSN_uc010flt.3_Non-coding_Transcript	NM_004622	NP_004613	Q15631	TSN_HUMAN	Homo sapiens translin (TSN), mRNA.	215					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCTCTCCATCCGGGGCTTTAA	0.512000														68			49		0	0	0.139131	0	0
TPCN2	219931	broad.mit.edu	37	11	68822718	68822718	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:68822718G>A	uc001oos.2	+	3	443	c.327G>A	c.(325-327)gcG>gcA	p.A109A	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.A109A|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	109					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	p.A109E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCAGCACGGCGGACGTGCGCT	0.587000														61			35		0	0	0.050027	0	0
VRK2	7444	broad.mit.edu	37	2	58373490	58373490	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:58373490G>A	uc002rzo.2	+	14	1808	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	VRK2_uc010fcb.2_Missense_Mutation_p.A355T|VRK2_uc002rzt.3_Missense_Mutation_p.A237T|VRK2_uc002rzs.3_Missense_Mutation_p.A355T|VRK2_uc002rzv.3_Missense_Mutation_p.A355T|VRK2_uc010fcd.3_Missense_Mutation_p.A332T|VRK2_uc002rzu.3_Missense_Mutation_p.A355T|VRK2_uc010fcc.3_Missense_Mutation_p.A237T|VRK2_uc002rzp.3_Missense_Mutation_p.A355T|VRK2_uc010ypg.2_Missense_Mutation_p.A355T	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	355						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGTCAACAAGGCACACAATAG	0.363000														23			16		0	0	0.146539	0	0
THAP10	56906	broad.mit.edu	37	15	71174870	71174870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr15:71174870C>T	uc002asv.3	-	2	858	c.697G>A	c.(697-699)Gat>Aat	p.D233N	LRRC49_uc002asu.3_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	Homo sapiens THAP domain containing 10 (THAP10), mRNA.	233							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGTCTGTATCTGTTTCTGAA	0.383000														79			54		0	0	0.139131	0	0
NPVF	64111	broad.mit.edu	37	7	25266388	25266388	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:25266388C>T	uc003sxo.3	-	1	443	c.396G>A	c.(394-396)ggG>ggA	p.G132G		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	132					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTGTTGTTCTCCCAAACCTTT	0.478000														83			188		0	0	0.139131	0	0
CCDC73	493860	broad.mit.edu	37	11	32636297	32636297	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:32636297C>T	uc001mtv.3	-	15	1611	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	523										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTGTCTTTTTCCAAGCATATC	0.318000														57			36		0	0	0.080422	0	0
SLC4A11	83959	broad.mit.edu	37	20	3215509	3215509	+	Silent	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:3215509G>A	uc010zqe.2	-	2	374	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SLC4A11_uc002wig.3_Silent_p.F56F|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.F40F	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	56					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.R82S(1)|p.F56F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCGGGCTTCGAAGGTGTCAT	0.547000														64			20		0	0	0.055883	0	0
X97876	0	broad.mit.edu	37	9	66500864	66500864	+	RNA	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr9:66500864A>G	uc004aed.1	+	2		c.957A>G								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		GAGCACCTACACGGAACTGCT	0.602000														13			3		0	0	0.033300	0	0
NMBR	4829	broad.mit.edu	37	6	142396988	142396988	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr6:142396988G>A	uc003qiu.3	-	2	1111	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	324					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGTAGGTAAAGAGCAAATGGG	0.458000														39			51		0	0	0.139131	0	0
C12orf77	196415	broad.mit.edu	37	12	25148886	25148886	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:25148886A>G	uc001rgf.3	-	2	467	c.262T>C	c.(262-264)Tgc>Cgc	p.C88R		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	88										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TTCTGGTGGCATTCGGGGGCA	0.507000														31			23		0	0	0.076483	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549197	44549197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr18:44549197C>T	uc021ujl.1	-	0	1338	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	368	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTCCACCCTTCCAGAACGGGT	0.607000														637			13		0	0	0.076483	0	0
C5AR1	728	broad.mit.edu	37	19	47823556	47823557	+	Missense_Mutation	DNP	CC	TT	TT	rs141160351		TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:47823556_47823557CC>TT	uc002pgj.1	+	1	571_572	c.522_523CC>TT	c.(520-525)taccgg>taTTgg	p.R175W		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	175					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCTTCCTGTACCGGGTGGTCCG	0.634000														86			66		0	0	0.115264	0	0
HNF1B	6928	broad.mit.edu	37	17	36093584	36093584	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr17:36093584C>T	uc002hok.4	-	2	996	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	HNF1B_uc021tvu.1_Missense_Mutation_p.E29K|HNF1B_uc010wdi.2_Missense_Mutation_p.E233K|HNF1B_uc021tvv.1_Missense_Mutation_p.E259K|HNF1B_uc021tvw.1_Missense_Mutation_p.E233K|HNF1B_uc010cve.1_Missense_Mutation_p.E67K	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	259					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E259Q(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCTCTCTCTTCCTTGCTGGGG	0.587000														241			201		0	0	0.139131	0	0
MYO16	23026	broad.mit.edu	37	13	109379904	109379904	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr13:109379904C>T	uc010agk.2	+	3	1102	c.480C>T	c.(478-480)aaC>aaT	p.N160N	MYO16_uc001vqt.1_Silent_p.N138N	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	138					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCGATAACCCTGATATTG	0.403000														33			53		0	0	0.139131	0	0
SLC22A20	440044	broad.mit.edu	37	11	65003966	65003966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:65003966G>A	uc021qlh.1	+	7	1383	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SLC22A20_uc001odi.4_Non-coding_Transcript			A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 2, non-coding RNA.	449					ion transport	integral to membrane	transmembrane transporter activity	p.E234*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GTTTACCGGCGAGCTGTACCC	0.637000														12			7		0	0	0.038147	0	0
WDR69	164781	broad.mit.edu	37	2	228754594	228754594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:228754594G>A	uc002vpn.1	+	2	215	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	WDR69_uc010zlw.1_Missense_Mutation_p.E31K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	46										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCGTTAGTAGAAGAAATCCA	0.373000														23			19		0	0	0.055883	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431459	110431459	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:110431459G>A	uc003yne.3	+	21	2598	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	832					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGTACATTGGACACACATC	0.328000										HNSCC(38;0.096)				11			5		0	0	0.014758	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926820	147926820	+	Silent	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr7:147926820A>G	uc003weu.2	+	19	3846	c.3330A>G	c.(3328-3330)ggA>ggG	p.G1110G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1110	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCCAATGGACAGCCCCACA	0.423000										HNSCC(39;0.1)				17			10		0	0	0.058154	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925450	182925450	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:182925450C>T	uc003fli.1	-	22	2748	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	886	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCCCAGGCTCCATTCGTATCT	0.433000														78			48		0	0	0.139131	0	0
abParts	0	broad.mit.edu	37	14	107219125	107219125	+	RNA	SNP	T	C	C			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr14:107219125T>C	uc021ser.1	-	11		c.739A>G								Parts of antibodies, mostly variable regions.																		CAGCCCAAACTCCATGGTGAG	0.502000														16			52		0	0	0.139131	0	0
FAM129C	199786	broad.mit.edu	37	19	17648329	17648329	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:17648329G>A	uc021uqj.1	+	5	803	c.665G>A	c.(664-666)gGt>gAt	p.G222D	FAM129C_uc021uqi.1_Missense_Mutation_p.G222D|FAM129C_uc010xps.2_Missense_Mutation_p.G191D|FAM129C_uc010xpt.2_Non-coding_Transcript|FAM129C_uc002ngy.4_5'Flank|FAM129C_uc010xpu.2_5'Flank|FAM129C_uc002ngz.4_5'Flank|FAM129C_uc010eaw.3_5'Flank|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	222										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCCCTGCAGGGTGGCATCCGG	0.642000														40			39		0	0	0.098360	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020187	55020187	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr18:55020187A>G	uc002lgn.3	+	0	467	c.110A>G	c.(109-111)aAc>aGc	p.N37S		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	37					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AAAAAGGAGAACATCTTCACC	0.602000														37			27		0	0	0.116897	0	0
ZNF581	51545	broad.mit.edu	37	19	56156050	56156051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr19:56156050_56156051CC>TT	uc002qln.3	+	1	386_387	c.113_114CC>TT	c.(112-114)tcc>tTT	p.S38F	ZNF581_uc002qlq.3_Missense_Mutation_p.S38F|ZNF581_uc021vcb.1_Missense_Mutation_p.S38F|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTTCCTCCTCCATCGGATCTC	0.614000														7			4		0	0	0.115264	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523737	24523737	+	Missense_Mutation	SNP	G	A	A	rs140803711	by1000genomes	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:24523737G>A	uc002wtw.1	+	1	637	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	2					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAGTACCATGGATGGCATCAT	0.507000														52			86		0	0	0.139131	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54930811	54930811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:54930811G>A	uc001sgc.4	+	28	3236	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	NCKAP1L_uc010sox.2_Missense_Mutation_p.E595K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E1003K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1053					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGAACATTGAAACTCACCT	0.403000														52			33		0	0	0.080422	0	0
TADA2B	93624	broad.mit.edu	37	4	7056555	7056555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr4:7056555C>T	uc003gjw.4	+	1	1188	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	TADA2B_uc010idi.3_Missense_Mutation_p.P271L|TADA2B_uc021xle.1_Missense_Mutation_p.P254L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGAACCTTCCAGGCTTCGAG	0.512000														58			49		0	0	0.139131	0	0
DAO	1610	broad.mit.edu	37	12	109278890	109278891	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr12:109278890_109278891GG>TA	uc001tnr.4	+	1	779_780	c.108_109GG>TA	c.(106-111)gcggac>gcTAac	p.D37N	DAO_uc001tnq.4_Missense_Mutation_p.D37N|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	37					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGGTCTACGCGGACCGCTTCAC	0.624000														52			44		0	0	0.115264	0	0
OR4K14	122740	broad.mit.edu	37	14	20483000	20483000	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr14:20483000G>A	uc010tky.2	-	0	353	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATAGGCCATGGAAACCAGGAG	0.468000														25			27		0	0	0.091800	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420035	19420035	+	RNA	SNP	A	G	G			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr13:19420035A>G	uc010tcj.1	-	0		c.26075T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAAATAGAAAATAACATTT	0.254000														6			3		0	0	0.009096	0	0
MECOM	2122	broad.mit.edu	37	3	168819935	168819935	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:168819935G>A	uc011bpj.1	-	10	3087	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	MECOM_uc010hwk.1_Missense_Mutation_p.S721L|MECOM_uc003ffj.3_Missense_Mutation_p.S772L|MECOM_uc003ffi.3_Missense_Mutation_p.S707L|MECOM_uc011bpi.1_Missense_Mutation_p.S699L|MECOM_uc003ffn.3_Missense_Mutation_p.S707L|MECOM_uc003ffk.2_Missense_Mutation_p.S698L|MECOM_uc003ffl.2_Missense_Mutation_p.S858L|MECOM_uc011bpk.1_Missense_Mutation_p.S707L|MECOM_uc010hwn.2_Missense_Mutation_p.S886L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGAGGGCACTGACTGTAAGAG	0.507000														23			28		0	0	0.099896	0	0
C20orf152	140894	broad.mit.edu	37	20	34571961	34571961	+	Silent	SNP	C	T	T			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr20:34571961C>T	uc002xer.1	+	4	621	c.465C>T	c.(463-465)ttC>ttT	p.F155F	C20orf152_uc002xes.1_Silent_p.F155F|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	155										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCTTTTATTTCATCTACCTGG	0.522000														41			158		0	0	0.139131	0	0
ANKRD23	200539	broad.mit.edu	37	2	97508103	97508105	+	Splice_Site	DEL	TTC	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:97508103_97508105delTTC	uc002sxa.3	-	2	203	c.174_splice	c.e2+1	p.K58_splice	ANKRD23_uc002sxb.3_Splice_Site|ANKRD23_uc002sxc.3_Splice_Site_p.K58_splice	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	58						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTCTCTCACTTTCTTCTTCTTCT	0.635													---	37	---	---	15	---					
NEB	4703	broad.mit.edu	37	2	152496526	152496526	+	Frame_Shift_Del	DEL	A	-	-	rs6713162	by1000genomes	TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr2:152496526delA	uc021vrb.1	-	59	8763	c.8734delT	c.(8734-8736)tccfs	p.S2912fs	NEB_uc002txu.3_Frame_Shift_Del_p.S2912fs|NEB_uc021vrc.1_Frame_Shift_Del_p.S2912fs|NEB_uc010fnx.3_Frame_Shift_Del_p.S2912fs|NEB_uc021vrd.1_Frame_Shift_Del_p.S2912fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2912			S -> P (in dbSNP:rs6713162).		muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.S2912P(2)|p.V2911G(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCCAATGGACACCCAGCCA	0.393													---	74	---	---	38	---					
MRAS	22808	broad.mit.edu	37	3	138121035	138121037	+	In_Frame_Del	DEL	AGA	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr3:138121035_138121037delAGA	uc003esh.4	+	5	1247_1249	c.551_553delAGA	c.(550-555)cagaag>cag	p.K189del	MRAS_uc011bmi.2_In_Frame_Del_p.K113del|MRAS_uc003esi.4_In_Frame_Del_p.K189del|MRAS_uc021xep.1_In_Frame_Del_p.K113del|MRAS_uc011bmj.2_In_Frame_Del_p.K113del|MRAS_uc021xeq.1_In_Frame_Del_p.K189del	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	189	Poly-Lys.				Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAAAAAGCCAGAAGAAGAAGAA	0.522													---	542	---	---	7	---					
IPO11	51194	broad.mit.edu	37	5	61763066	61763069	+	Frame_Shift_Del	DEL	GAAC	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr5:61763066_61763069delGAAC	uc011cqr.2	+	5	875_878	c.745_748delGAAC	c.(745-750)gaacgafs	p.E249fs	IPO11_uc003jtc.3_Frame_Shift_Del_p.E209fs	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	209						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GAGTTCACTAGAACGAACACTGCT	0.377													---	84	---	---	20	---					
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	-	-	rs62519837		TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr8:65494021_65494023delGCA	uc003xvi.3	+	0	1227_1229	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(2)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													---	4	---	---	2	---					
CUL5	8065	broad.mit.edu	37	11	107965175	107965176	+	In_Frame_Ins	INS	-	AAGTATCTG	AAGTATCTG			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr11:107965175_107965176insAAGTATCTG	uc001pjv.3	+	13	2168_2169	c.1501_1502insAAGTATCTG	c.(1501-1503)aaa>aAAGTATCTGaa	p.504_505insVSE	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	504					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TCAGGACATAAAAGTATCTGAA	0.277													---	23	---	---	16	---					
PKMYT1	9088	broad.mit.edu	37	16	3023032	3023033	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr16:3023032_3023033delCT	uc002csn.3	-	8	1930_1931	c.1421_1422delAG	c.(1420-1422)gagfs	p.E474fs	PAQR4_uc002csj.4_3'UTR|PAQR4_uc002csk.4_3'UTR|PAQR4_uc002csl.4_3'UTR|PAQR4_uc010uwm.2_3'UTR|PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_3'UTR|PKMYT1_uc002cso.3_Frame_Shift_Del_p.E405fs|PKMYT1_uc002csq.3_Frame_Shift_Del_p.E465fs	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	474	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCGAGGAGGCTCTGAGTTGAT	0.609													---	26	---	---	27	---					
NOL4	8715	broad.mit.edu	37	18	31538307	31538307	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr18:31538307delG	uc010dmi.3	-	6	1430	c.1132delC	c.(1132-1134)ctafs	p.L378fs	NOL4_uc010xbs.2_Frame_Shift_Del_p.L93fs|NOL4_uc002kxr.4_Frame_Shift_Del_p.L214fs|NOL4_uc010xbt.2_Frame_Shift_Del_p.L304fs|NOL4_uc010dmh.3_Frame_Shift_Del_p.L304fs|NOL4_uc010xbu.2_Frame_Shift_Del_p.L378fs|NOL4_uc002kxt.4_Frame_Shift_Del_p.L378fs|NOL4_uc010xbv.1_Frame_Shift_Del_p.L127fs	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	378						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCCCTGTTTAGTGAGAGGTCC	0.488													---	155	---	---	102	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	-	-			TCGA-FS-A1ZE-06A-11D-A197-08	TCGA-FS-A1ZE-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc90571-61b8-4672-91f8-ed87c1a4a1ab	28e16dcc-e820-4e52-a0dd-a6289195da53	g.chr22:42262949_42262951delGCA	uc003bbi.3	+	1	372_374	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	74	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													---	210	---	---	8	---