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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TNFRSF4	7293	broad.mit.edu	37	1	1148396	1148396	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1148396G>T	ENST00000379236.3	-	3	350	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	116					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGCTGTCCAGGGGCTGGGTG	0.701													3	16	---	---	---	---
NADK	65220	broad.mit.edu	37	1	1685503	1685503	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1685503C>A	ENST00000344463.4	-	12	1744	c.1523G>T	c.(1522-1524)gGg>gTg	p.G508V	NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000341426.5_Missense_Mutation_p.G363V|NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V			O95544	NADK_HUMAN	NAD kinase	363					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGCTCGACCCCTGCGGGGAC	0.642													6	135	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8074380	8074380	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:8074380G>T	ENST00000469499.1	-	3	413	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000377482.5_Silent_p.P93P|ERRFI1_ENST00000474874.1_Intron			Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	0					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TAAGAAGAGGGGGCAAGCTGG	0.448													8	454	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9661280	9661280	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:9661280C>A	ENST00000340305.5	+	5	733	c.724C>A	c.(724-726)Cca>Aca	p.P242T	TMEM201_ENST00000340381.6_Missense_Mutation_p.P242T|TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	242						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		ACACTTCGCCCCAGGCACCAC	0.687													5	73	---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10207136	10207136	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:10207136C>A	ENST00000377157.3	+	18	2905	c.1844C>A	c.(1843-1845)cCc>cAc	p.P615H	UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000253251.8_Missense_Mutation_p.P731H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	860					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCCTGGACCCCGCATATCCC	0.493													6	292	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024347	12024347	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12024347G>T	ENST00000196061.4	+	12	1345	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	440					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.G440W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATTGTGCAGGGGCGGCGTGT	0.617													7	213	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12313858	12313858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12313858G>T	ENST00000358136.3	+	7	774	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	215					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTTACTGGGGGATTTGCCT	0.473													7	205	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12837551	12837551	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12837551C>A	ENST00000357726.4	+	3	1288	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	421										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGATGCCCAGGGTGCTCT	0.562													5	170	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577701	16577701	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16577701G>T	ENST00000375592.3	-	10	1834	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	540										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACGTGAGGTGGGGTATGCACA	0.587													5	171	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16907919	16907919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16907919G>T	ENST00000430580.2	-	15	2262	c.1375C>A	c.(1375-1377)Ccc>Acc	p.P459T		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTTACCTGGGGGCAGATGAT	0.433													13	1160	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18808274	18808274	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:18808274C>A	ENST00000400664.1	+	1	851	c.799C>A	c.(799-801)Cgc>Agc	p.R267S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	267						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCATAGCCCGCGTCCGAAT	0.592													4	167	---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19644262	19644262	+	Missense_Mutation	SNP	C	C	A	rs141141870		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:19644262C>A	ENST00000375153.3	+	2	731	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	31						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAATGTGCCCAGGACGGCTG	0.592													8	553	---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23408760	23408760	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23408760G>T	ENST00000400181.4	+	20	2450	c.2346G>T	c.(2344-2346)cgG>cgT	p.R782R	KDM1A_ENST00000356634.3_Silent_p.R758R|KDM1A_ENST00000542151.1_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	758	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTGGGCTCGGGGCTCTTATT	0.498													5	100	---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23650124	23650124	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000478691.1	-	5	568	c.297A>G	c.(295-297)ccA>ccG	p.P99P	HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443													10	197	---	---	---	---
HMGCL	3155	broad.mit.edu	37	1	24129055	24129055	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:24129055C>A	ENST00000374483.4	-	10	1473		c.e10-1		HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Splice_Site			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GATTCACACCCTTTGAGAAAC	0.448													4	96	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26609170	26609170	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:26609170C>A	ENST00000314675.7	-	10	981	c.902G>T	c.(901-903)gGg>gTg	p.G301V	UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000374222.1_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	421						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGCACGTCCCCAATGGTGTT	0.642													5	129	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058085	27058085	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27058085C>A	ENST00000324856.7	+	3	2164	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	598					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGCTTCCCTCCACCGCAG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	154	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27427032	27427032	+	Missense_Mutation	SNP	C	C	A	rs138292060		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27427032C>A	ENST00000263980.3	-	12	2789	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	738					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGACTTTGCCCTTCAGCTCTT	0.602													7	462	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28476664	28476664	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:28476664G>T	ENST00000373857.3	-	2	1503	c.869C>A	c.(868-870)cCt>cAt	p.P290H	PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	290					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGATAACAGGGTCTAAGAC	0.532													4	101	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34286096	34286096	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:34286096C>A	ENST00000373381.4	-	8	1349	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	351	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCTTTTGCCCCTTTCGGGTA	0.463													7	421	---	---	---	---
TEKT2	27285	broad.mit.edu	37	1	36552430	36552430	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:36552430C>A	ENST00000207457.3	+	5	741	c.614C>A	c.(613-615)cCc>cAc	p.P205H		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	205					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTTGACCCCACACGTGTA	0.552													5	113	---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265330	38265330	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38265330C>A	ENST00000373045.6	+	4	1210	c.829C>A	c.(829-831)Cct>Act	p.P277T	MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	277						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGACGTCCCCTGAGGCCTG	0.572													7	241	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38357094	38357094	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38357094C>A	ENST00000373023.2	-	8	898	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000373026.1_Missense_Mutation_p.G269W|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCCCTTCCCATTTGGTCTC	0.448													7	293	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39768669	39768669	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39768669C>A	ENST00000564288.1	+	23	3485	c.2708C>A	c.(2707-2709)cCc>cAc	p.P903H	MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000372915.3_Missense_Mutation_p.P908H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	908	SH3.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGATCAGCCCCACAGGGAAC	0.473													5	86	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39910390	39910390	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39910390G>T	ENST00000564288.1	+	80	20265	c.19488G>T	c.(19486-19488)aaG>aaT	p.K6496N	MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000372915.3_Missense_Mutation_p.K6395N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6505					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTTGACAAGGGCAGACTCA	0.458													5	112	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39927561	39927561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39927561C>A	ENST00000564288.1	+	93	22307	c.21530C>A	c.(21529-21531)cCc>cAc	p.P7177H	MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000372915.3_Missense_Mutation_p.P7076H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7076	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGTTCCCCACCACCAAG	0.378													6	387	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40688302	40688302	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40688302G>T	ENST00000372771.4	+	6	894	c.867G>T	c.(865-867)gaG>gaT	p.E289D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	289					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATCTGAGGGGCAGGATA	0.373													6	251	---	---	---	---
ZFP69B	65243	broad.mit.edu	37	1	40928275	40928275	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40928275G>T	ENST00000411995.2	+	6	994	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AATGGGTAAGGGGCAAATCCC	0.403													6	310	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050098	42050098	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:42050098G>T	ENST00000372584.1	-	3	1385	c.371C>A	c.(370-372)cCc>cAc	p.P124H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P124H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	124					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTCTCATGGGGTCAACCAG	0.607													6	241	---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44386558	44386558	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:44386558C>A	ENST00000262915.3	+	12	1380	c.1203C>A	c.(1201-1203)ccC>ccA	p.P401P	ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P332P|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	332					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCAACGCACCCCTGCACTACT	0.587													4	43	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47515758	47515758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47515758C>A	ENST00000371901.3	+	12	1692	c.1442C>A	c.(1441-1443)cCc>cAc	p.P481H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	481						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACTCCAGACCCCACCAGGCCT	0.468													7	284	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47746590	47746590	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47746590C>A	ENST00000360380.3	-	13	1903	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	514					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGGGGTTCCCTTTCTTATAG	0.418													9	222	---	---	---	---
USP1	7398	broad.mit.edu	37	1	62910475	62910475	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:62910475G>T	ENST00000339950.4	+	6	1439	c.624G>T	c.(622-624)ttG>ttT	p.L208F	USP1_ENST00000371146.1_Missense_Mutation_p.L208F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	208					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATGTATTTTGGGAAACATTC	0.338													5	235	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67861329	67861329	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:67861329C>A	ENST00000262345.1	+	16	2786	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	716					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCAAGTGACCCCAGTTTTCAG	0.537													5	106	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68906685	68906685	+	Splice_Site	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428													4	79	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510218	77510218	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:77510218C>A	ENST00000477717.1	+	3	826	c.591C>A	c.(589-591)ccC>ccA	p.P197P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	197					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGTGCTGCCCCGGCTGAAGG	0.577													6	235	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:91405265C>A	ENST00000370440.1	-	3	1863	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCACTGCCCCATGTGCAAT	0.393													7	258	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94517240	94517240	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94517240G>T	ENST00000370225.3	-	17	2688	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T	ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	868					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGGAAGTGGGGTTCCATAG	0.398													5	100	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103462681	103462681	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:103462681C>A	ENST00000358392.2	-	26	2550		c.e26-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318													8	529	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104117851	104117851	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:104117851G>T	ENST00000361355.4	+	8	1501	c.885G>T	c.(883-885)tgG>tgT	p.W295C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	295					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATAGGAACTGGGGAGAAGGTT	0.418													15	1340	---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108185310	108185310	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:108185310G>T	ENST00000370056.4	-	20	2119	c.1845C>A	c.(1843-1845)ccC>ccA	p.P615P	VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	615	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGTAAAGGGGGTCCTTCAT	0.478													6	203	---	---	---	---
CSF1	1435	broad.mit.edu	37	1	110466551	110466551	+	Silent	SNP	C	C	A	rs151241389		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110466551C>A	ENST00000329608.6	+	6	1699	c.1308C>A	c.(1306-1308)ccC>ccA	p.P436P	CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	436					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTGCTGCCCCTTGGGGAGC	0.682													5	132	---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110562206	110562206	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110562206G>T	ENST00000369799.5	+	15	1790	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	475					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGCACCCGAGGGGCGATACAA	0.408													7	267	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408													62	156	---	---	---	---
CEPT1	10390	broad.mit.edu	37	1	111703854	111703854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:111703854G>T	ENST00000545121.1	+	4	773	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	189						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TTGTTTTGCGGGGACATTTAT	0.383													9	575	---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114454708	114454708	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:114454708G>T	ENST00000369563.3	+	4	1940	c.1494G>T	c.(1492-1494)agG>agT	p.R498S	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	498					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAATTCAGGGGTCTAGCAC	0.507								Other identified genes with known or suspected DNA repair function					6	245	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115222228	115222228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:115222228G>T	ENST00000369538.3	-	6	1003	c.956C>A	c.(955-957)cCc>cAc	p.P319H	AMPD1_ENST00000520113.2_Missense_Mutation_p.P323H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	ATCTCGGTGGGGGTTGTTTTT	0.433													7	303	---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116202355	116202355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116202355C>A	ENST00000355485.2	+	3	436	c.165C>A	c.(163-165)ccC>ccA	p.P55P	VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	55					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTGGAGAGCCCCTGTTGGGAA	0.488													6	190	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116931321	116931321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116931321G>T	ENST00000537345.1	+	6	926	c.563G>T	c.(562-564)gGg>gTg	p.G188V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G188V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	188					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTTGTGGTTGGGGATCTGGTG	0.418													7	271	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116932153	116932153	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116932153C>A	ENST00000537345.1	+	8	1210	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.P283T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	283					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGGCCAGACCCCCATTGCTGC	0.493													7	227	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117516926	117516926	+	Missense_Mutation	SNP	G	G	T	rs142086076		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117516926G>T	ENST00000393203.2	+	7	2295	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	716	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCACTGTCGAGGGAGCAGCAC	0.438													6	240	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	rs140355100		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617													56	108	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	117944807	117944807	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117944807G>T	ENST00000356554.3	+	2	1037		c.e2-1		MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTTTCTCACAGGGAAGAGGAA	0.353													4	159	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882782	144882782	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:144882782C>A	ENST00000369359.4	-	27	3686	c.3648G>T	c.(3646-3648)aaG>aaT	p.K1216N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1079N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1079					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTCGCCCTTCTCCTTGT	0.517			T	PDGFRB	MPD								10	792	---	---	---	---
POLR3C	10623	broad.mit.edu	37	1	145601557	145601557	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:145601557G>T	ENST00000334163.3	-	7	1009	c.849C>A	c.(847-849)ccC>ccA	p.P283P	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	283					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGGGTGAAGGGAGCACTAG	0.418													5	118	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057837	152057837	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057837G>T	ENST00000368806.1	-	3	2385	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	774							calcium ion binding	p.P774H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTGACCAGGGGACTGAAGA	0.502													8	316	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057905	152057905	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057905G>T	ENST00000368806.1	-	3	2317	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	751							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCTCTTGGGGACTTTCAT	0.453													10	399	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127798	152127798	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152127798C>A	ENST00000316073.3	-	3	1841	c.1777G>T	c.(1777-1779)Ggg>Tgg	p.G593W		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	593	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTTTGCCCTTGTATTTCC	0.458													9	560	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188056	152188056	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152188056C>A	ENST00000368801.2	-	3	6124	c.6049G>T	c.(6049-6051)Ggg>Tgg	p.G2017W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2017					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGCCCATGGGTAGAG	0.562													17	1601	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152195662	152195662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152195662C>A	ENST00000368801.2	-	2	143	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	23	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCATACTCCCCATGCTGGGT	0.418													7	241	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3753D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617									Ichthyosis				9	710	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277601	152277601	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152277601G>T	ENST00000368799.1	-	3	9796	c.9761C>A	c.(9760-9762)cCc>cAc	p.P3254H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3254H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCTGGGGTGTCTGGA	0.582									Ichthyosis				9	589	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280128	152280128	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152280128C>A	ENST00000368799.1	-	3	7269	c.7234G>T	c.(7234-7236)Ggg>Tgg	p.G2412W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2412	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAAAGACCCTGAACGTCCA	0.602									Ichthyosis				6	332	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284559	152284559	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152284559C>A	ENST00000368799.1	-	3	2838	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	935	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G935W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGACCCCTCTGATTGT	0.572									Ichthyosis				9	580	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671631	152671631	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152671631C>A	ENST00000368779.1	+	2	305	c.254C>A	c.(253-255)cCc>cAc	p.P85H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCAGAGCCCCGATTGTTGT	0.652													5	91	---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000368768.1	-	2	381	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657													14	39	---	---	---	---
LCE1A	353131	broad.mit.edu	37	1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622													4	14	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153998193	153998193	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:153998193C>A	ENST00000368559.3	-	30	4019		c.e30-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like							integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTCCTTCCCTAGGGAACAA	0.473													7	333	---	---	---	---
C1orf189	388701	broad.mit.edu	37	1	154173005	154173005	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:154173005G>T	ENST00000368525.3	-	3	159	c.134C>A	c.(133-135)cCg>cAg	p.P45Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	45										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGTGGCATACGGGTTTCTTCT	0.517													9	468	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155385613	155385613	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155385613C>A	ENST00000368346.3	-	6	6569	c.5930G>T	c.(5929-5931)aGg>aTg	p.R1977M	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1977					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTCTTTTCCCTTGGGATGAG	0.453													7	342	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155883915	155883915	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155883915G>T	ENST00000368321.3	-	14	1865	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	614										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTGTTTCCTAGGGAGCCATCC	0.443													6	173	---	---	---	---
PMF1	11243	broad.mit.edu	37	1	156203446	156203446	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156203446G>T	ENST00000368277.3	+	3	304	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368273.4_Missense_Mutation_p.G101W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W	NM_007221.3	NP_009152.2			polyamine-modulated factor 1									p.G99R(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAAAGAGGAGGGGAACCTAGA	0.478													6	310	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156255745	156255745	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156255745G>T	ENST00000405535.2	+	2	899	c.728G>T	c.(727-729)gGg>gTg	p.G243V	TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	243						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTGCGCTGCGGGGTCTTTGCC	0.607													6	227	---	---	---	---
HAPLN2	60484	broad.mit.edu	37	1	156593630	156593630	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156593630C>A	ENST00000255039.1	+	4	524	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	39	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682													3	14	---	---	---	---
RRNAD1	51093	broad.mit.edu	37	1	156702827	156702827	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156702827G>T	ENST00000368216.4	+	4	1110	c.480G>T	c.(478-480)gtG>gtT	p.V160V	RRNAD1_ENST00000368218.4_Silent_p.V160V|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	160						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TTGTAGACGTGGGCTCAGGCC	0.517													5	165	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157494290	157494290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:157494290C>A	ENST00000361835.3	-	10	2175	c.2018G>T	c.(2017-2019)gGg>gTg	p.G673V	FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	673	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGCAGGTCCCCCACCACAGC	0.552													4	78	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159043120	159043120	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159043120C>A	ENST00000368130.4	-	2	458	c.170G>T	c.(169-171)gGg>gTg	p.G57V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	57	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGACACCGCCCCAGCATTTTG	0.393													6	154	---	---	---	---
DARC	2532	broad.mit.edu	37	1	159176132	159176132	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159176132C>A	ENST00000537147.1	+	3	1746	c.903C>A	c.(901-903)ccC>ccA	p.P301P	DARC_ENST00000368122.2_Silent_p.P301P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	301					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGCTACGCCCCTGCTCCTCG	0.602													8	465	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159785241	159785241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159785241G>T	ENST00000321935.6	+	10	1278	c.1192G>T	c.(1192-1194)Ggg>Tgg	p.G398W	FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000368106.3_Missense_Mutation_p.G391W	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	391						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTTCACCGTGGGGAGAAAGGT	0.542													4	87	---	---	---	---
TAGLN2	8407	broad.mit.edu	37	1	159889590	159889590	+	Missense_Mutation	SNP	C	C	A	rs150286561		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159889590C>A	ENST00000368097.4	-	3	526	c.216G>T	c.(214-216)gaG>gaT	p.E72D	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	72	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCCTGCCCCTCGGGGTACA	0.552													7	355	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160260403	160260403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160260403G>T	ENST00000241704.7	-	32	3723	c.3494C>A	c.(3493-3495)cCc>cAc	p.P1165H	COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1165					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGTCAAAGGGGTTGTGCAT	0.493													8	285	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160267460	160267460	+	Missense_Mutation	SNP	C	C	A	rs112109460		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160267460C>A	ENST00000241704.7	-	20	2282	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	COPA_ENST00000368069.3_Missense_Mutation_p.G694W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	685					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGTGGTTCCCCTGCAGCAGG	0.468													6	210	---	---	---	---
CD48	962	broad.mit.edu	37	1	160651144	160651144	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160651144C>A	ENST00000368046.3	-	3	587	c.500G>T	c.(499-501)gGg>gTg	p.G167V	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	167	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTTTTGTCCCCATACCAGGT	0.443													7	360	---	---	---	---
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:161192276G>T	ENST00000594609.1	+	2	211	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000463812.1_Silent_p.P26P																							TCTTGATCAGGGGTGTCAGCT	0.507													9	421	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165175156	165175156	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:165175156G>T	ENST00000342310.3	-	8	1315	c.933C>A	c.(931-933)ccC>ccA	p.P311P	LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTGTCGGAAGGGATCTGAGC	0.592													5	154	---	---	---	---
FAM78B	149297	broad.mit.edu	37	1	166039992	166039992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166039992C>A	ENST00000338353.3	-	3	861	c.272G>T	c.(271-273)tGg>tTg	p.W91L	FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	91										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGGCAGTTCCCAGCTTGACCT	0.483													4	82	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166927175	166927175	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166927175C>A	ENST00000271417.3	-	2	265	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	70	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGACATGCCCAAGGATTCTC	0.542													6	232	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169696959	169696959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:169696959C>A	ENST00000333360.7	-	9	1528	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	463	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATTCAAATCCCTCCTCACAGC	0.498													6	251	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176984012	176984012	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:176984012C>A	ENST00000367654.3	-	8	1674		c.e8-1		ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGCATTCCCCTTAGAAGCAG	0.423													7	516	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180794397	180794397	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:180794397C>A	ENST00000367590.4	+	9	1249	c.1051C>A	c.(1051-1053)Ctt>Att	p.L351I	XPR1_ENST00000367589.3_Missense_Mutation_p.L351I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	351						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCCACTTGCCCTTTATGGATT	0.438													8	476	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183177169	183177169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183177169G>T	ENST00000264144.4	+	2	298	c.233G>T	c.(232-234)aGg>aTg	p.R78M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	78	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CACAGAGAAAGGGACCGCTGT	0.507													10	509	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183514075	183514075	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183514075C>A	ENST00000367537.3	+	17	2142	c.1947C>A	c.(1945-1947)ccC>ccA	p.P649P	SMG7_ENST00000347615.2_Silent_p.P666P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000507469.1_Silent_p.P620P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	666	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGTTTCCGCCCCCAACATATG	0.438													6	262	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183617132	183617132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183617132G>T	ENST00000308641.4	-	2	1056	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	262					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTTTAAGGGGTAGCTCTC	0.448													6	279	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186280621	186280621	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186280621C>A	ENST00000445192.2	+	10	3731	c.3686C>A	c.(3685-3687)cCc>cAc	p.P1229H	PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1229	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCAGGGTACCCCAAACCAATT	0.353													6	333	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.4	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid								14	63	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404276	197404276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:197404276G>T	ENST00000367397.1	+	5	2284	c.1426G>T	c.(1426-1428)Ggg>Tgg	p.G476W	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367400.3_Missense_Mutation_p.G1095W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1095	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGGCCTGCAAGGGTGTCTAAG	0.368													6	213	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200587192	200587192	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200587192G>T	ENST00000367350.4	-	2	1098	c.660C>A	c.(658-660)ccC>ccA	p.P220P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	220	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGGAAGCAATGGGTGGTCTAT	0.398													9	505	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880632	200880632	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200880632C>A	ENST00000367342.4	+	9	1466	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	C1orf106_ENST00000413687.2_Silent_p.P337P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCGCCTTTCCCCGCCGCCGCC	0.662													6	239	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202096908	202096908	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:202096908C>A	ENST00000367282.5	+	2	776	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTCTGTGCCCTGGGCATTGA	0.587													4	102	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204380335	204380335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:204380335G>T	ENST00000367188.4	-	1	584	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	69					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCAAGGAGCTGGGAGAGCAGT	0.572													5	192	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207959026	207959026	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:207959026G>T	ENST00000358170.2	+	12	1282	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	376					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GAAGAAGAAAGGGTAAATTAA	0.338													6	360	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217604600	217604600	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:217604600C>A	ENST00000366935.3	-	10	1584	c.1474G>T	c.(1474-1476)Ggg>Tgg	p.G492W		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	492	G-patch.					intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCAGAGATCCCCTTGCCATCT	0.493													7	349	---	---	---	---
BPNT1	10380	broad.mit.edu	37	1	220247316	220247316	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:220247316C>A	ENST00000469520.2	-	4	667	c.218G>T	c.(217-219)gGg>gTg	p.G73V	BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	73					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TACCTCTTCCCCTATAATTGT	0.388													9	384	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225607004	225607004	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:225607004G>T	ENST00000338179.2	-	5	726	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	201	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCCCGGATGGGGGTCACTTCA	0.498													6	169	---	---	---	---
TRIM11	81559	broad.mit.edu	37	1	228582614	228582614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:228582614G>T	ENST00000493030.2	-	5	4533	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.P400Q			Q96F44	TRI11_HUMAN	tripartite motif containing 11	400	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGCCTGGGTGGGTCCCGGAG	0.597													4	83	---	---	---	---
CAPN9	10753	broad.mit.edu	37	1	230933908	230933908	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:230933908G>T	ENST00000354537.1	+	18	1992	c.1910G>T	c.(1909-1911)cGg>cTg	p.R637L	CAPN9_ENST00000271971.2_Splice_Site_p.R663L|CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	663	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R663L(1)|p.R637L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCCTATCAGGGGTGTTCCAG	0.502											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	411	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233489601	233489601	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:233489601G>T	ENST00000366624.3	+	3	1296	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	MLK4_ENST00000366623.3_Silent_p.R345R	NM_032435.2	NP_115811.2																					TCCCCTATCGGGGCATTGATG	0.512													7	164	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235950607	235950607	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGGAAAATATTCTCCTGTG	0.418													7	457	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236746435	236746435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:236746435C>A	ENST00000366582.3	-	18	2417	c.2303G>T	c.(2302-2304)tGg>tTg	p.W768L	HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	768					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATAATGTGCCCACAGCTCCAC	0.413													7	441	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237060398	237060398	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237060398G>T	ENST00000366577.5	+	32	4085	c.3691G>T	c.(3691-3693)Ggg>Tgg	p.G1231W	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.G1180W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1231	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTGCTGTGGGGAAGATTTC	0.408													6	318	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237802315	237802315	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237802315G>T	ENST00000366574.2	+	46	7246	c.6929G>T	c.(6928-6930)gGg>gTg	p.G2310V	RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2310	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTACTTTAGGGGAGAGTGTG	0.383													4	51	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247751791	247751791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:247751791G>T	ENST00000320065.1	+	1	130	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACTATTTTGGGGAATACCAC	0.408													8	444	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428													9	676	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525150	248525150	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248525150C>A	ENST00000366475.1	+	1	268	c.268C>A	c.(268-270)Ccc>Acc	p.P90T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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;0.0265)			CCTCCACACCCCCATGTACTT	0.478													8	501	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9595849	9595849	+	Silent	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000460593.1	+	13	2593	c.1455C>G	c.(1453-1455)ccC>ccG	p.P485P	CPSF3_ENST00000238112.3_Silent_p.P522P			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383													14	121	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20113344	20113344	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:20113344G>T	ENST00000345530.3	-	28	3636	c.3521C>A	c.(3520-3522)cCc>cAc	p.P1174H	WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1174										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCATAAGGGGCAGAAGCT	0.398													6	336	---	---	---	---
CGREF1	10669	broad.mit.edu	37	2	27324218	27324218	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27324218C>A	ENST00000402394.1	-	6	1149	c.881G>T	c.(880-882)gGg>gTg	p.G294V	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.G277V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	277					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTTTCCCCTGGAAGTTC	0.557													8	563	---	---	---	---
KRTCAP3	200634	broad.mit.edu	37	2	27666311	27666311	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27666311G>T	ENST00000543753.1	+	5	574	c.527G>T	c.(526-528)gGg>gTg	p.G176V	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552													5	162	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688721	27688721	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688721C>A	ENST00000260570.3	-	17	1824	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	574					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCTTTCCCCCGCCCCGCTC	0.488													9	623	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	572					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCCCCGCCCCGCTCCAGAC	0.488													11	602	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32418958	32418958	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32418958G>T	ENST00000282587.5	+	8	439	c.402G>T	c.(400-402)acG>acT	p.T134T	SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	134						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTTTTTAGGGGAAGATTAT	0.358													6	312	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32474764	32474764	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32474764G>T	ENST00000404025.2	-	5	2657	c.2169C>A	c.(2167-2169)ccC>ccA	p.P723P	NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	723					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTATGGTGAGGGGACTGGCTT	0.458													6	358	---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873715	37873715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:37873715G>T	ENST00000295324.3	-	2	1016	c.16C>A	c.(16-18)Cca>Aca	p.P6T	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	6					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				AGGTAAATTGGGGTCTTGGCT	0.418													7	376	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38536592	38536592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:38536592G>T	ENST00000378954.4	-	9	1001	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	334					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAATTTTCAGGGGCAAGCAGC	0.328													6	185	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44100976	44100976	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:44100976G>T	ENST00000272286.2	+	9	1352	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCATCCATGGGGCGGAGGCC	0.537													7	463	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48018072	48018072	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48018072C>A	ENST00000234420.5	+	2	419	c.267C>A	c.(265-267)gaC>gaA	p.D89E	MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D89E(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGTTGTGACTTCTCACCAG	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	201	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026149	48026149	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48026149C>A	ENST00000234420.5	+	4	1179	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCTCTGCCCCTCAAAATTC	0.443			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	260	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027463	48027463	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48027463C>A	ENST00000234420.5	+	4	2493	c.2341C>A	c.(2341-2343)Cca>Aca	p.P781T	MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.P781T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTTGTGCCCCACTCTGTAA	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	428	---	---	---	---
REL	5966	broad.mit.edu	37	2	61118892	61118892	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61118892G>T	ENST00000295025.8	+	2	405	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	REL_ENST00000394479.3_Missense_Mutation_p.G29W	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog		RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAAATGTGAAGGGCGATCAGC	0.453			A		Hodgkin Lymphoma								5	211	---	---	---	---
REL	5966	broad.mit.edu	37	2	61148946	61148946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61148946G>T	ENST00000295025.8	+	11	1456	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	REL_ENST00000394479.3_Missense_Mutation_p.G347V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGCCTACAGGGGTTTCAAGT	0.408			A		Hodgkin Lymphoma								6	228	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449806	62449806	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:62449806C>A	ENST00000301998.4	+	2	703	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	151						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATTAAGTCCCTCACTCCACA	0.498													6	228	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68882252	68882252	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557													32	86	---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69554133	69554133	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:69554133G>T	ENST00000357308.4	-	19	2146	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	GFPT1_ENST00000361060.5_Silent_p.P638P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	656	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCACTGAGTGGGGCACCTTGA	0.473													5	171	---	---	---	---
SNRNP27	11017	broad.mit.edu	37	2	70122252	70122252	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70122252C>A	ENST00000244227.3	+	2	486	c.61C>A	c.(61-63)Cgg>Agg	p.R21R	SNRNP27_ENST00000409116.1_Silent_p.R21R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	21	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleic acid binding	p.R21W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCCACATCCCGGGAGAGAGA	0.562													6	273	---	---	---	---
SNRPG	6637	broad.mit.edu	37	2	70515272	70515272	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70515272G>T	ENST00000482975.2	-	3	839	c.72C>A	c.(70-72)ccC>ccA	p.P24P	SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000272348.2_Silent_p.P36P			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	36					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						GGTTCATAAAGGGATCAAATC	0.368													5	172	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690103	74690103	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:74690103G>T	ENST00000409065.1	-	4	760	c.623C>A	c.(622-624)cCc>cAc	p.P208H	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000233616.4_Silent_p.P271P|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000535045.1_3'UTR			Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	0					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGTCAGCAGGGGCAGTCCTG	0.517													9	323	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97530119	97530119	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97530119C>A	ENST00000305476.5	-	10	1095	c.963G>T	c.(961-963)tgG>tgT	p.W321C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	321	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						ACATGTCACCCCTGTCACAGC	0.582													5	172	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97531227	97531227	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97531227C>A	ENST00000305476.5	-	6	600	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	156	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACACTTGCCCTTCCCATCTT	0.567													6	96	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103141515	103141515	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103141515C>A	ENST00000295269.4	+	10	2308	c.1851C>A	c.(1849-1851)ccC>ccA	p.P617P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	617					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCAAACCCCAAACAAGTG	0.498													7	447	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103148815	103148815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103148815C>A	ENST00000295269.4	+	12	2522	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	689					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCAGGATCCCCATCCATCAC	0.458													6	199	---	---	---	---
SULT1C4	27233	broad.mit.edu	37	2	108998896	108998896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:108998896C>A	ENST00000272452.2	+	3	677	c.351C>A	c.(349-351)ccC>ccA	p.P117P	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.P117P(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CACATCTTCCCTTTCACTTGC	0.388													7	473	---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118577355	118577355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:118577355C>A	ENST00000263239.2	+	3	629	c.501C>A	c.(499-501)ccC>ccA	p.P167P	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	167							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGTCTGCCCCTGGGACTGA	0.423													4	80	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408804	128408804	+	Silent	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000544369.1	+	4	1190	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667													45	106	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128467377	128467377	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128467377C>A	ENST00000322313.4	-	19	3520	c.3362G>T	c.(3361-3363)aGg>aTg	p.R1121M		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1121					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAACCATCCCTTCCTCTGGG	0.557													6	380	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541067	133541067	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:133541067C>A	ENST00000409261.1	-	14	3690	c.3317G>T	c.(3316-3318)gGg>gTg	p.G1106V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1106	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCATTTACCCCTAAGAAGGA	0.498													8	465	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136026567	136026567	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:136026567G>T	ENST00000401392.1	-	11	1563	c.1351C>A	c.(1351-1353)Cta>Ata	p.L451I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L451I			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	451	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGGGTGTCTAGGGTTCCATTT	0.408													6	378	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139322356	139322356	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:139322356C>A	ENST00000280098.4	+	9	1295	c.916C>A	c.(916-918)Ctt>Att	p.L306I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	306						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGCAGATACCCTTGTCCTTGC	0.413													7	377	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166929887	166929887	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:166929887G>T	ENST00000423058.2	-	1	262	c.245C>A	c.(244-246)cCc>cAc	p.P82H	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|SCN1A_ENST00000303395.4_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	82						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GATATAGTAGGGGTCCAGGTC	0.438													6	295	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167142854	167142854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:167142854G>T	ENST00000375387.4	-	11	1937	c.1597C>A	c.(1597-1599)Ccc>Acc	p.P533T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P532T|SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	532						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACCTGATTGGGGGTAGACAAC	0.443													8	547	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099319	168099319	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:168099319C>A	ENST00000409195.1	+	9	1506	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	298					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAGTCCCCTGAACTGCC	0.408													7	180	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169847386	169847386	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:169847386C>A	ENST00000263817.6	-	9	957	c.833G>T	c.(832-834)gGg>gTg	p.G278V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	278	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGCCACCACCCCTGCTTTGGC	0.398													7	349	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171260843	171260843	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:171260843C>A	ENST00000334231.6	+	20	2391	c.2391C>A	c.(2389-2391)ccC>ccA	p.P797P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000408978.4_Silent_p.P788P			Q8WXR4	MYO3B_HUMAN	myosin IIIB	788	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCCAGAAACCCCTGGGACTGC	0.493													5	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395544	179395544	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179395544G>T	ENST00000589042.1	-	358	106022	c.105798C>A	c.(105796-105798)ccC>ccA	p.P35266P	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000591111.1_Silent_p.P33625P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33625							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTGTCTCTGTGGGTGATACGG	0.488													4	110	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413235	179413235	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179413235G>T	ENST00000589042.1	-	339	93342	c.93118C>A	c.(93118-93120)Cct>Act	p.P31040T	TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000591111.1_Missense_Mutation_p.P29399T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29399	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TCAAGAAGAGGGGCATCCCAC	0.507													7	386	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179545040	179545040	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179545040C>A	ENST00000589042.1	-	139	33583	c.33359G>T	c.(33358-33360)aGg>aTg	p.R11120M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10803	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TGCGACAACCCTCTTGGGCTT	0.403													8	432	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640649	179640649	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179640649C>A	ENST00000589042.1	-	28	6166	c.5942G>T	c.(5941-5943)aGg>aTg	p.R1981M	TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000591111.1_Missense_Mutation_p.R1981M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1716							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TCTTTCAGCCCTTTTCAACTT	0.428													8	492	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182780991	182780991	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:182780991G>T	ENST00000431877.2	+	11	2803	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	875						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AACATATCAGGGGCTACTTGT	0.522													5	181	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183593382	183593382	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:183593382C>A	ENST00000264065.7	+	6	913	c.498C>A	c.(496-498)ccC>ccA	p.P166P	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTAGCTCCCACAGTATGTA	0.299													6	238	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189863408	189863408	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:189863408G>T	ENST00000304636.3	+	29	2156	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	662	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGGTCCAAAGGGTGATGCCG	0.368													4	88	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197184291	197184291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:197184291C>A	ENST00000260983.3	-	9	1505	c.1323G>T	c.(1321-1323)atG>atT	p.M441I	HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGAGGCACCCATGGACCTCT	0.502													4	94	---	---	---	---
FAM126B	285172	broad.mit.edu	37	2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.3	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512													33	60	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206562332	206562332	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:206562332C>A	ENST00000360409.3	+	2	929	c.138C>A	c.(136-138)ccC>ccA	p.P46P	NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000357785.5_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	46	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCGGTTACCCCCAGGACTACC	0.502													10	611	---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207615682	207615682	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:207615682G>T	ENST00000374412.3	-	6	1303	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	343					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTAAAACAGGGCGTGAATA	0.328													5	169	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209192967	209192967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:209192967C>A	ENST00000264380.4	+	21	3840	c.3682C>A	c.(3682-3684)Cag>Aag	p.Q1228K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1228					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTTCTGCCCAGTCCAGCAA	0.438													5	285	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	38					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.G38V(3)|p.G38E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCGGAGCAGGGGAAGGACTT	0.532													4	81	---	---	---	---
RPE	6120	broad.mit.edu	37	2	210881324	210881324	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210881324G>T	ENST00000359429.6	+	4	533	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	146	Substrate binding.				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGTGGAACCGGGGTTTGGAGG	0.438													6	278	---	---	---	---
PECR	55825	broad.mit.edu	37	2	216914052	216914052	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:216914052C>A	ENST00000265322.7	-	6	722	c.648G>T	c.(646-648)tgG>tgT	p.W216C	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	216					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGCTTTGTCCCCAGGAACCAT	0.358													6	318	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508775	219508775	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508775C>A	ENST00000411696.2	-	7	3243	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	ZNF142_ENST00000449707.1_Missense_Mutation_p.G822W			P52746	ZN142_HUMAN	zinc finger protein 142	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCACCCGCCCCTCTAGCACC	0.577													7	300	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508853	219508853	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508853G>T	ENST00000411696.2	-	7	3165	c.2386C>A	c.(2386-2388)Cca>Aca	p.P796T	ZNF142_ENST00000449707.1_Missense_Mutation_p.P796T			P52746	ZN142_HUMAN	zinc finger protein 142	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGTAATGGGGGCAAGGGT	0.532													7	310	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219617870	219617870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219617870G>T	ENST00000392102.1	+	18	3560	c.3220G>T	c.(3220-3222)Ggg>Tgg	p.G1074W	TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1074					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGCTACAAAGGGTTCCACAT	0.517													8	556	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220047109	220047109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:220047109C>A	ENST00000430297.2	+	9	1526	c.1390C>A	c.(1390-1392)Cct>Act	p.P464T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	464						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCCTCCCCTTCCATTCT	0.617													6	138	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222428928	222428928	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:222428928C>A	ENST00000281821.2	-	3	387	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	116						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCAAGTCCCCATGACGCCC	0.463													6	358	---	---	---	---
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:228197205C>A	ENST00000524634.1	+	0	228				MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000353339.3_Silent_p.P110P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P			Q9GZY8	MFF_HUMAN	mitochondrial fission factor							integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398													12	844	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233671322	233671322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:233671322G>T	ENST00000373566.3	+	16	2024	c.1827G>T	c.(1825-1827)tgG>tgT	p.W609C	GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.W587C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	587	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAAATGTGGGGAAGGGTTC	0.458													6	352	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526904	234526904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234526904C>A	ENST00000373450.4	+	1	614	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCACAGTGCCCTGCTCCTCTT	0.493													7	425	---	---	---	---
UGT1A3	54659	broad.mit.edu	37	2	234638401	234638401	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234638401G>T	ENST00000482026.1	+	1	648	c.629G>T	c.(628-630)aGg>aTg	p.R210M	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCATGCAAAGGGTCAAGAAC	0.453													8	439	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238274414	238274414	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238274414G>T	ENST00000295550.4	-	12	6217	c.5765C>A	c.(5764-5766)cCc>cAc	p.P1922H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1922	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGACGTAGGGGTGCTGGCT	0.612													6	126	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238275770	238275770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238275770G>T	ENST00000295550.4	-	11	5512	c.5060C>A	c.(5059-5061)cCc>cAc	p.P1687H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1687	Nonhelical region.|VWFA 9.		P -> S (in dbSNP:rs35273032).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCGTCAGTGGGGTCAGAGTT	0.473													4	65	---	---	---	---
RAB17	64284	broad.mit.edu	37	2	238494758	238494758	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238494758G>T	ENST00000264601.3	-	2	669	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	14					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GGCTGGCTGGGGGCAGCCCTG	0.582													4	82	---	---	---	---
MTERFD2	130916	broad.mit.edu	37	2	242035730	242035730	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:242035730G>T	ENST00000391980.2	-	4	887	c.829C>A	c.(829-831)Cct>Act	p.P277T	MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	277										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTCTTATCAGGGGTTTGGTAC	0.468													6	319	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	367694	367694	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:367694C>A	ENST00000256509.2	+	4	786	c.144C>A	c.(142-144)ccC>ccA	p.P48P	CHL1_ENST00000397491.2_Silent_p.P48P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	48	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGCCTTTCCCTTCGATGAGT	0.348													5	140	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1424996	1424996	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:1424996G>T	ENST00000446702.2	+	19	3048	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S			Q9UQ52	CNTN6_HUMAN	contactin 6	807	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGCCCCAAGGGGAACTTCTC	0.438													8	448	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:10976836C>A	ENST00000254488.2	+	13	1763	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P566Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGCATCCCGCTCTGGATC	0.602													6	192	---	---	---	---
HDAC11	79885	broad.mit.edu	37	3	13538270	13538270	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:13538270C>A	ENST00000295757.3	+	4	470	c.287C>A	c.(286-288)cCc>cAc	p.P96H	HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	96	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ACAGAAATCCCCCCCGTTATC	0.587											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	88	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15131941	15131941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:15131941C>A	ENST00000253699.3	-	5	867	c.254G>T	c.(253-255)gGg>gTg	p.G85V	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	85					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGATCAACCCCTCCATAGCT	0.443													6	201	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16358387	16358387	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:16358387C>A	ENST00000334133.4	-	10	1957	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	562						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCCCCGTCCCTGGCATCCTC	0.567													7	388	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:25833460C>A	ENST00000280701.3	+	2	1048	c.949C>A	c.(949-951)Cct>Act	p.P317T	OXSM_ENST00000420173.2_Missense_Mutation_p.P234T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	317					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428													6	205	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27436109	27436109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:27436109C>A	ENST00000295736.5	-	20	3060	c.2990G>T	c.(2989-2991)gGg>gTg	p.G997V	SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	997						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGGTTGTTCCCCTGGAGCAGA	0.433													5	166	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710260	31710260	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:31710260C>A	ENST00000396556.2	-	10	2092	c.1970G>T	c.(1969-1971)gGg>gTg	p.G657V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	657					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)		ATTCCATTCCCCATGGGCTTT	0.418													8	345	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37388772	37388772	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:37388772G>T	ENST00000361924.2	+	21	6935	c.6561G>T	c.(6559-6561)atG>atT	p.M2187I	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2187	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATATGATGGGTCGTGAGA	0.363													5	168	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38138188	38138188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38138188G>T	ENST00000308059.6	+	15	2321	c.2300G>T	c.(2299-2301)gGg>gTg	p.G767V	DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	767					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)		ATCATCCCAGGGGAGAACTAC	0.488													6	319	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38167373	38167373	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38167373C>A	ENST00000333167.8	-	10	1170		c.e10-1		ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ACTGTCAGCCCTGCAGACAAG	0.582													4	142	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39227674	39227674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:39227674G>T	ENST00000340369.3	-	2	3491	c.3263C>A	c.(3262-3264)cCc>cAc	p.P1088H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1088							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCTGGATGGGGTTGGAAGT	0.597													5	133	---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40456250	40456250	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:40456250G>T	ENST00000301825.3	+	6	634	c.516G>T	c.(514-516)agG>agT	p.R172S	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	172						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTGACTTTAGGGGTGCTCAAA	0.428													6	344	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41275023	41275023	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:41275023G>T	ENST00000349496.5	+	9	1469	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	397					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCCATAGGAAGGGATGGAAGG	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				6	329	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44673623	44673623	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:44673623C>A	ENST00000396058.1	+	3	744	c.577C>A	c.(577-579)Ctt>Att	p.L193I	ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I			O14709	ZN197_HUMAN	zinc finger protein 197	193					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGCTTCTGCCCTTTCCCAGGA	0.498													7	475	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46492139	46492139	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46492139C>A	ENST00000231751.4	-	7	1023	c.728G>T	c.(727-729)aGg>aTg	p.R243M	LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	243	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATACTCGTCCCTTTCAGCCTC	0.557													6	168	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542219	46542219	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46542219C>A	ENST00000296142.3	+	2	1101	c.529C>A	c.(529-531)Cca>Aca	p.P177T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	177					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATCTCAGACCCCAAGAGTACA	0.522													5	152	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47951275	47951275	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:47951275C>A	ENST00000426837.2	-	10	4774	c.4687G>T	c.(4687-4689)Ggg>Tgg	p.G1563W	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	933					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATCACATGCCCTTCATCGATC	0.438													5	206	---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48506045	48506045	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48506045G>T	ENST00000412052.1	+	11	2222	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000320211.3_Missense_Mutation_p.C680F|ATRIP_ENST00000346691.4_Intron	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	680					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.C680F(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCCAACTGCCAGTGTAAT	0.607								Other conserved DNA damage response genes					5	158	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508890	48508890	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48508890C>A	ENST00000296443.9	+	3	1723	c.836C>A	c.(835-837)cCt>cAt	p.P279H	TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000422277.2_Missense_Mutation_p.P334H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	334					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAAGGACCCTGGAGCCCTA	0.602													5	112	---	---	---	---
CCDC71	64925	broad.mit.edu	37	3	49201177	49201177	+	Silent	SNP	C	C	A	rs142878485		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49201177C>A	ENST00000321895.6	-	2	571	c.465G>T	c.(463-465)cgG>cgT	p.R155R		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	155										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGCACCCCGGGCATGGC	0.592													4	72	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49692404	49692404	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49692404C>A	ENST00000296452.4	+	5	5529	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1805					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAACCTACCCAACCAAGTAG	0.592													6	198	---	---	---	---
ALAS1	211	broad.mit.edu	37	3	52240720	52240720	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52240720C>A	ENST00000394965.2	+	8	1478	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	373					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGATCTGACCCCTCAGTCCCC	0.473													6	200	---	---	---	---
WDR82	80335	broad.mit.edu	37	3	52293888	52293888	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52293888C>A	ENST00000296490.3	-	6	825	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	182					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GCAAATGGCCCCTGCAAAAGA	0.403													6	224	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52547910	52547910	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52547910C>A	ENST00000321725.6	+	32	3436	c.3360C>A	c.(3358-3360)ccC>ccA	p.P1120P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1120					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTACTGCCCCCCCGAGGGG	0.622													9	354	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52557149	52557149	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52557149G>T	ENST00000321725.6	+	63	7095	c.7019G>T	c.(7018-7020)gGg>gTg	p.G2340V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2340	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCTTCTATGGGGTGTGTGGG	0.622													5	91	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53905310	53905310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53905310C>A	ENST00000335754.3	-	11	1616	c.1516G>T	c.(1516-1518)Gga>Tga	p.G506*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	506					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.G506*(1)|p.G211*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGGCTTTTCCTTCAAACAGC	0.547													6	234	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53912392	53912392	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53912392G>T	ENST00000335754.3	-	3	497	c.397C>A	c.(397-399)Cct>Act	p.P133T	ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	133					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ACCTGTTCAGGGGACACAGGA	0.363													7	425	---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57882650	57882650	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:57882650C>A	ENST00000383718.3	+	15	1527	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000428312.1_Missense_Mutation_p.L481I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	481					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.L464F(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAAGTGTCCCTTTTAAAAGG	0.343													6	236	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66467662	66467662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:66467662C>A	ENST00000383703.3	-	4	997	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	LRIG1_ENST00000273261.3_Missense_Mutation_p.G132W			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	132						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGCTGGCTCCCCTCCACGCTG	0.483													7	369	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88202481	88202481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:88202481G>T	ENST00000318887.3	+	2	545	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	79					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGCAACACAGGGGATTGTTAT	0.398													5	191	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93615462	93615462	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93615462C>A	ENST00000394236.3	-	9	1239	c.923G>T	c.(922-924)gGg>gTg	p.G308V	PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	308	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAAAACAACCCCTGCAAACTG	0.373													6	294	---	---	---	---
ARL13B	200894	broad.mit.edu	37	3	93769675	93769675	+	Missense_Mutation	SNP	G	G	T	rs139897675		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93769675G>T	ENST00000535334.1	+	8	1363	c.840G>T	c.(838-840)tgG>tgT	p.W280C	ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000394222.3_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	383							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TAGTTGGCTGGGGAACCCCTA	0.378													5	132	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93803223	93803223	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93803223G>T	ENST00000314622.4	+	3	606	c.395G>T	c.(394-396)gGg>gTg	p.G132V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	132							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTAAGGGATGGGGAGAAGGTT	0.453													6	133	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:96706580G>T	ENST00000389672.5	+	3	895	c.857G>T	c.(856-858)gGg>gTg	p.G286V	EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	191						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAGACATTGGGGCGTGCATT	0.458													9	573	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97662113	97662113	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97662113C>A	ENST00000182096.4	+	19	3088	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAAATCAGCCCCTGGAGGGAG	0.363													5	103	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806257	97806257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97806257C>A	ENST00000358642.2	+	1	241	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTCTATAACCCCTAGGATGCT	0.418													7	477	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488													66	96	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113286504	113286504	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113286504C>A	ENST00000264852.4	+	3	1188	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SIDT1_ENST00000393830.3_Silent_p.P154P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	154						integral to membrane		p.P154P(2)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCATGGCACCCCTGGGTGCTC	0.502													6	345	---	---	---	---
ZDHHC23	254887	broad.mit.edu	37	3	113672875	113672875	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113672875G>T	ENST00000330212.3	+	3	789	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	164						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGTCCCCAAAGGGCGTGTGGG	0.517													6	269	---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122340367	122340367	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:122340367G>T	ENST00000483793.1	+	6	802	c.762G>T	c.(760-762)ggG>ggT	p.G254G	PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000464300.2_Silent_p.G380G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATGTTCCTGGGGGAAAAGATG	0.418													5	177	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128971467	128971467	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:128971467G>T	ENST00000314797.6	+	4	277	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	58					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TTAACACAGGGGGAGCACCTG	0.532													6	209	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132211347	132211347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:132211347C>A	ENST00000260818.6	+	33	3961	c.3713C>A	c.(3712-3714)cCc>cAc	p.P1238H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1238							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGTATTGCCCCATTCCTATA	0.408													10	581	---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403													21	165	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140122471	140122471	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:140122471G>T	ENST00000458420.3	+	3	423	c.233G>T	c.(232-234)gGg>gTg	p.G78V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	78	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCTGCAGGGGAAATCTGT	0.542										HNSCC(16;0.037)			9	328	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141272749	141272749	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:141272749C>A	ENST00000286364.3	+	6	613	c.578C>A	c.(577-579)cCt>cAt	p.P193H	RASA2_ENST00000452898.1_Missense_Mutation_p.P193H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	193	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGCTGTGACCCTTATGCAACA	0.318													6	288	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877858	150877858	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:150877858C>A	ENST00000474524.1	+	7	1115	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	359					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATGGTCCCCTGGTTTATG	0.522													6	336	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151166339	151166339	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:151166339C>A	ENST00000282466.3	-	4	1429	c.1430G>T	c.(1429-1431)aGg>aTg	p.R477M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	477	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTTATCCCTTGAAATCAT	0.473													8	329	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143934	160143934	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160143934C>A	ENST00000357388.3	+	17	3002	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T	SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	851					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTACAGCCCCTGACAAAAA	0.338													8	430	---	---	---	---
PPM1L	151742	broad.mit.edu	37	3	160783260	160783260	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160783260G>T	ENST00000498165.1	+	3	745	c.644G>T	c.(643-645)gGg>gTg	p.G215V	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	215	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACTCGCGCGGGGTCCTGTGT	0.483													6	161	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905816	164905816	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:164905816G>T	ENST00000475390.1	-	2	3246	c.2803C>A	c.(2803-2805)Ctt>Att	p.L935I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	935						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAGAAGAGAAGGGTTTCTTTG	0.498										HNSCC(40;0.11)			8	426	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172070714	172070714	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:172070714C>A	ENST00000336824.4	+	22	2735	c.2636C>A	c.(2635-2637)cCt>cAt	p.P879H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	879	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTACCCTGATTCACCT	0.547													5	141	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039469	184039469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:184039469C>A	ENST00000342981.4	+	9	1511	c.1097C>A	c.(1096-1098)cCa>cAa	p.P366Q	EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P366Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	366					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCATGGTCCCATCTGAAGAT	0.552													7	280	---	---	---	---
TPRG1	285386	broad.mit.edu	37	3	188925227	188925227	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:188925227G>T	ENST00000345063.3	+	2	221	c.54G>T	c.(52-54)gaG>gaT	p.E18D	TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	18										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TGAAGCAAGAGGGAGATGACC	0.458													5	182	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194379704	194379704	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:194379704G>T	ENST00000265245.5	-	7	1055	c.741C>A	c.(739-741)ccC>ccA	p.P247P		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	247					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACCATTCAGGGGAATGGCTC	0.453													6	343	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094919	196094919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:196094919G>T	ENST00000296328.4	-	8	888	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATTTTTTGGGGGGACTGCTA	0.403													6	278	---	---	---	---
ADD1	118	broad.mit.edu	37	4	2929972	2929972	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:2929972C>A	ENST00000264758.7	+	15	2217	c.2029C>A	c.(2029-2031)Cct>Act	p.P677T	ADD1_ENST00000398129.1_Missense_Mutation_p.P646T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	646					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGATCTGTCCCCTGATGAACC	0.577													8	466	---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7787997	7787997	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:7787997C>A	ENST00000420658.1	-	12	1726	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.G485V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	485						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGAGGTGCCCCCTAGATATGG	0.488													6	232	---	---	---	---
LAP3	51056	broad.mit.edu	37	4	17590565	17590565	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17590565C>A	ENST00000226299.4	+	7	1102	c.828C>A	c.(826-828)ccC>ccA	p.P276P	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	276					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGAACCACCCCTGGTGTTTG	0.443													8	254	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17839311	17839311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17839311C>A	ENST00000251496.2	+	16	2529	c.2353C>A	c.(2353-2355)Cct>Act	p.P785T		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	785					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGCCAATGCCCCTGCATCTTC	0.398													10	464	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390780	22390780	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:22390780G>T	ENST00000334304.5	-	18	2923	c.2654C>A	c.(2653-2655)cCc>cAc	p.P885H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	885					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AACAATGATGGGGATACCACC	0.413													6	355	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26432054	26432054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:26432054G>T	ENST00000342320.4	+	10	1231	c.1055G>T	c.(1054-1056)gGg>gTg	p.G352V	RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000361572.6_Missense_Mutation_p.G366V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	366					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGGCGGTGGGGACGTAGCA	0.363													5	162	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37839188	37839188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:37839188G>T	ENST00000381967.4	+	4	494	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	132					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TATCAGTCAGGGGATTCCTGT	0.463													6	351	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39109314	39109314	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:39109314C>A	ENST00000261425.3	+	9	1803	c.1651C>A	c.(1651-1653)Cct>Act	p.P551T	KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000504108.1_Missense_Mutation_p.P597T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	597						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATGTCTACCCCTAGGAGTAC	0.418													5	131	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177054	44177054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:44177054G>T	ENST00000360029.3	-	2	1458	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	392						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTTTAGAGGGGCGATCCAA	0.507										HNSCC(17;0.042)			7	424	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65147241	65147241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:65147241G>T	ENST00000381210.3	-	10	979	c.869C>A	c.(868-870)cCc>cAc	p.P290H	TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCATGTGAAGGGGTTATAATT	0.328													5	161	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69798449	69798449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:69798449C>A	ENST00000251566.4	-	3	923	c.893G>T	c.(892-894)gGg>gTg	p.G298V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	298						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCATCTTCCCCTGAACTCTG	0.358													8	373	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186567	73186567	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:73186567C>A	ENST00000286657.4	-	7	1002	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	322	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGGTTTCCCCTTTCTATGA	0.428													5	152	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77276527	77276527	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:77276527G>T	ENST00000388914.3	-	14	2388	c.2236C>A	c.(2236-2238)Ctt>Att	p.L746I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	746										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCTCTGAAGGGCATCTATC	0.438													7	468	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123291	81123291	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:81123291C>A	ENST00000339711.4	+	10	1906	c.675C>A	c.(673-675)ccC>ccA	p.P225P	PRDM8_ENST00000504452.1_Silent_p.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	225	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCGGGTCCCAAGTTTTGCA	0.697											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85664946	85664946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:85664946G>T	ENST00000322366.6	-	37	6387	c.5980C>A	c.(5980-5982)Cct>Act	p.P1994T	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1994T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1994						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACCTTTCAGGGGAAGCCTAA	0.318													6	118	---	---	---	---
HSD17B11	51170	broad.mit.edu	37	4	88303482	88303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:88303482C>A	ENST00000358290.4	-	2	558	c.243G>T	c.(241-243)aaG>aaT	p.K81N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	81					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CACCCAGTCCCTTGCATTTGG	0.398													6	385	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104510993	104510993	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:104510993G>T	ENST00000304883.2	-	5	1384	c.1244C>A	c.(1243-1245)cCc>cAc	p.P415H	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCATCGTTGGGGTCAAACAC	0.512													8	517	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114176921	114176921	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:114176921C>A	ENST00000357077.4	+	11	1074	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	341					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGCTGCCCAGGGAGACCA	0.458													7	251	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242169	126242169	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126242169C>A	ENST00000394329.3	+	1	4616	c.4603C>A	c.(4603-4605)Ctt>Att	p.L1535I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1535	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAACGCCCTTGCTGCAGA	0.433													7	372	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411433	126411433	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126411433G>T	ENST00000394329.3	+	17	13469	c.13456G>T	c.(13456-13458)Ggg>Tgg	p.G4486W	FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTCCTGCGGGGCATGTCTG	0.617													5	162	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138449941	138449941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:138449941C>A	ENST00000344876.4	-	2	2907	c.2521G>T	c.(2521-2523)Ggg>Tgg	p.G841W	PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATATTGCCCCTGGTGAAGC	0.403													7	300	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:140641171C>A	ENST00000509479.2	-	5	3579	c.2723G>T	c.(2722-2724)gGg>gTg	p.G908V	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATTCCAACCCCCTGCCCAGA	0.557													7	390	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526061	155526061	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:155526061C>A	ENST00000404648.3	-	9	1526	c.1287G>T	c.(1285-1287)ggG>ggT	p.G429G	FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000336098.3_Silent_p.G429G|FGG_ENST00000407946.1_Silent_p.G437G	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	429	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTTGGCTCCCCCCAGGTGGT	0.448													8	358	---	---	---	---
GLRB	2743	broad.mit.edu	37	4	158073995	158073995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:158073995C>A	ENST00000264428.4	+	9	1300	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	GLRB_ENST00000509282.1_Missense_Mutation_p.L344M|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	344					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			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)	GTTTGCTTCCCTGGTGGAGTA	0.488													5	168	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050386	164050386	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:164050386G>T	ENST00000274054.2	-	8	1341	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	383					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAAGATCGAGGGTATCTGGC	0.438													5	165	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541626	187541626	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:187541626G>T	ENST00000441802.2	-	10	6323	c.6114C>A	c.(6112-6114)ccC>ccA	p.P2038P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2038	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGATCGAAGGGCGTGCCAG	0.488										HNSCC(5;0.00058)			7	407	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	233690	233690	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:233690C>A	ENST00000264932.6	+	8	1109	c.994C>A	c.(994-996)Cct>Act	p.P332T	SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	332					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCGATACGCCCCTGTCGCGAA	0.527									Familial Paragangliomas				6	242	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	635690	635690	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:635690C>A	ENST00000264935.5	+	6	985	c.895C>A	c.(895-897)Cca>Aca	p.P299T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	299					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTACTTCACCCCACACCCAGG	0.532													5	115	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881607	26881607	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:26881607G>T	ENST00000231021.4	-	12	2180	c.2008C>A	c.(2008-2010)Caa>Aaa	p.Q670K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAAAAGCTTGGGTATCTTCT	0.433													6	390	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34821917	34821917	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:34821917C>A	ENST00000265109.3	+	14	1362	c.1075C>A	c.(1075-1077)Ctt>Att	p.L359I	RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	359						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTTGCTTCCCTTACCTTACA	0.368													6	238	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065849	35065849	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:35065849G>T	ENST00000382002.5	-	10	1637	c.1211C>A	c.(1210-1212)cCc>cAc	p.P404H	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	404					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGAAAATAGGGGATTTTGCC	0.493													6	251	---	---	---	---
NADK2	133686	broad.mit.edu	37	5	36217949	36217949	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:36217949C>A	ENST00000397338.1	-	6	414	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000381937.4_Missense_Mutation_p.G228W					NAD kinase 2, mitochondrial																		ATGCCAGTCCCTTCAAGGTAT	0.388													5	178	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38427338	38427338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38427338G>T	ENST00000322350.5	+	14	2384	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTGGCTCTGGGACCGGTGT	0.502													6	313	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38481998	38481998	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38481998C>A	ENST00000263409.4	-	20	3155	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	998					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAGCCTGCCCCTCCTACAGG	0.458			T	PLAG1	salivary adenoma								6	214	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AATTTCTCAAGGGCTGCATTT	0.398													4	75	---	---	---	---
C6	729	broad.mit.edu	37	5	41195902	41195902	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41195902C>A	ENST00000263413.3	-	5	843	c.579G>T	c.(577-579)atG>atT	p.M193I	C6_ENST00000337836.5_Missense_Mutation_p.M193I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	193	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCCATTGCCCATCAACTGTA	0.433													6	256	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43649338	43649338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:43649338G>T	ENST00000264663.5	+	11	1755	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	NNT_ENST00000344920.4_Missense_Mutation_p.G512W|NNT_ENST00000512996.2_Missense_Mutation_p.G381W	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	512					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGGCATTGTGGGGTATCATAC	0.502													7	442	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52183671	52183671	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:52183671G>T	ENST00000282588.6	+	8	1256	c.798G>T	c.(796-798)cgG>cgT	p.R266R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	266	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CGGAAGCCCGGGGTGCCCGAA	0.398													5	131	---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419699	72419699	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72419699G>T	ENST00000454765.2	+	2	972	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W			Q8WVE6	TM171_HUMAN	transmembrane protein 171	167						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCAGATCATGGGGCCCTTGAT	0.547													5	179	---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72427549	72427549	+	Missense_Mutation	SNP	C	C	A	rs17853415		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72427549C>A	ENST00000454765.2	+	4	1440	c.967C>A	c.(967-969)Cca>Aca	p.P323T	TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T			Q8WVE6	TM171_HUMAN	transmembrane protein 171	323				P -> S (in Ref. 2; AAH35310).		integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TGAGCCTTCCCCACCGTAAAC	0.353													6	329	---	---	---	---
CRHBP	1393	broad.mit.edu	37	5	76259235	76259235	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76259235C>A	ENST00000274368.4	+	6	1183	c.761C>A	c.(760-762)cCt>cAt	p.P254H	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	254					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGATTGGACCCTTCCAAGATG	0.453													7	408	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76349809	76349809	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76349809C>A	ENST00000312916.7	+	10	1869	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	496					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAATGTGACCCTTACGTACTT	0.393													6	232	---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76734163	76734163	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76734163C>A	ENST00000296679.4	-	10	1281	c.906G>T	c.(904-906)agG>agT	p.R302S	WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	302										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CGTATAAACCCCTTCCAACTG	0.458													8	207	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82833038	82833038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:82833038C>A	ENST00000265077.3	+	8	4781	c.4216C>A	c.(4216-4218)Cca>Aca	p.P1406T	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1406	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GACAACCACCCCATCTGTGCA	0.458													4	74	---	---	---	---
FER	2241	broad.mit.edu	37	5	108521967	108521967	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108521967G>T	ENST00000281092.4	+	19	2654	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	FER_ENST00000438717.2_Missense_Mutation_p.G582V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	757	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTCAGCTTAGGGGTTTGTCCG	0.488													6	222	---	---	---	---
FER	2241	broad.mit.edu	37	5	108523221	108523221	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108523221C>A	ENST00000281092.4	+	20	2798	c.2414C>A	c.(2413-2415)cCt>cAt	p.P805H	FER_ENST00000438717.2_Missense_Mutation_p.P630H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	805	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAATCGCCCTAAGTTCAGT	0.463													4	134	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109106195	109106195	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:109106195C>A	ENST00000261483.4	+	7	2201	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	383					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGGTTGTCCCTGGGGAGTCC	0.433													6	215	---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112349073	112349073	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:112349073G>T	ENST00000389063.2	+	11	1353	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	385					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AACATGCTGAGGGACAGCCCG	0.393													6	280	---	---	---	---
FEM1C	56929	broad.mit.edu	37	5	114860425	114860425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:114860425C>A	ENST00000274457.3	-	3	1995	c.1434G>T	c.(1432-1434)agG>agT	p.R478S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	478						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TATTCTTTCCCCTTGGATGCA	0.393													7	469	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126734475	126734475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:126734475C>A	ENST00000274473.6	+	8	1034	c.767C>A	c.(766-768)cCt>cAt	p.P256H	MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	256	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTTGCCCTTCTGGCTGG	0.522													5	123	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127670475	127670475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:127670475C>A	ENST00000508053.1	-	37	5009	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N			P35556	FBN2_HUMAN	fibrillin 2	1345	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAAGGATCCCTTTGTGTTCT	0.388													7	186	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128994403	128994403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:128994403G>T	ENST00000274487.4	+	15	2525	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	794	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATCATTAAAGGGGATTTTAA	0.343													6	337	---	---	---	---
GDF9	2661	broad.mit.edu	37	5	132200139	132200139	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:132200139C>A	ENST00000378673.2	-	2	953	c.87G>T	c.(85-87)ggG>ggT	p.G29G	GDF9_ENST00000296875.2_Silent_p.G29G|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	29					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTTCTCCCCCAGAAGCCT	0.517													5	149	---	---	---	---
PKD2L2	27039	broad.mit.edu	37	5	137235236	137235236	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137235236C>A	ENST00000508638.1	+	5	611	c.556C>A	c.(556-558)Cct>Act	p.P186T	PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186T	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACCAACTCCCCTTGGCACTG	0.353													6	238	---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137844470	137844470	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137844470G>T	ENST00000499810.2	-	10	1468	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	ETF1_ENST00000360541.5_Silent_p.P373P|ETF1_ENST00000503014.1_Silent_p.P359P	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	373					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCCAACAGGGGCATGCTCT	0.413													6	288	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180997	140180997	+	Missense_Mutation	SNP	G	G	T	rs149543626		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140180997G>T	ENST00000522353.2	+	1	215	c.215G>T	c.(214-216)gGg>gTg	p.G72V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGACACGGGGACCTTCTG	0.627													5	186	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502609	140502609	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140502609C>A	ENST00000194152.1	+	1	1029	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGACAATCCCCCAGAACTTA	0.443													8	402	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558651	140558651	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140558651C>A	ENST00000239444.2	+	1	1281	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCATGCCCCAGAAGTTAC	0.448													11	792	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140723735	140723735	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140723735G>T	ENST00000253812.6	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCTTCGTGGGCAACATCG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	329	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755086	140755086	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140755086C>A	ENST00000517434.1	+	1	1436	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGGACCCTGACGTGGAC	0.582													6	300	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773098	140773098	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140773098C>A	ENST00000398604.2	+	1	718	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCCGGTTTTTCC	0.582													5	162	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145843328	145843328	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145843328C>A	ENST00000296702.5	+	5	1145	c.1107C>A	c.(1105-1107)ccC>ccA	p.P369P	TCERG1_ENST00000394421.2_Silent_p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTGTTCCCCTTCCTGGCA	0.448													6	372	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969654	145969654	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145969654C>A	ENST00000394413.3	-	9	1758	c.1188G>T	c.(1186-1188)ggG>ggT	p.G396G	PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|CTB-99A3.1_ENST00000512730.1_RNA			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	396					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCTTGCCCCCCACACACA	0.498													7	374	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795341	146795341	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:146795341G>T	ENST00000343218.5	-	4	948	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.L137M	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	137					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACATGCAGGGCATAGTCA	0.552													6	346	---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592													3	93	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149447876	149447876	+	Missense_Mutation	SNP	G	G	T	rs139203165	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149447876G>T	ENST00000286301.3	-	11	1819	c.1528C>A	c.(1528-1530)Ccg>Acg	p.P510T		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	510					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AACTCATCCGGGGGATGCGTG	0.597													4	83	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581948	149581948	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149581948G>T	ENST00000230671.2	+	7	1268	c.897G>T	c.(895-897)ctG>ctT	p.L299L	SLC6A7_ENST00000524041.1_Silent_p.L299L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	299						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTATTCCCTGGGTGTGGGCT	0.572													5	175	---	---	---	---
CD74	972	broad.mit.edu	37	5	149784707	149784707	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149784707C>A	ENST00000353334.6	-	5	657	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.G160W|CD74_ENST00000524315.1_Intron	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	160					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGCTCCCCTTCAGTGGC	0.547			T	ROS1	NSCLC								5	161	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150276299	150276299	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:150276299C>A	ENST00000446148.2	-	7	977	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G168W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATATTTTCCCCAGTGGATTA	0.348													8	305	---	---	---	---
G3BP1	10146	broad.mit.edu	37	5	151166205	151166205	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:151166205C>A	ENST00000543466.1	+	0	186				G3BP1_ENST00000394123.3_Silent_p.P8P|G3BP1_ENST00000356245.3_Silent_p.P8P			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1						Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCG	0.478													7	244	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160114833	160114833	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160114833G>T	ENST00000327245.5	-	5	1095	c.249C>A	c.(247-249)ccC>ccA	p.P83P	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGATTCCGGGGCAGGAAGG	0.458													6	252	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160758068	160758068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160758068G>T	ENST00000274547.2	-	9	1116	c.899C>A	c.(898-900)cCc>cAc	p.P300H	GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000393959.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	300					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTCACATAGGGGATTTTAGG	0.448													7	337	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171471911	171471911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:171471911G>T	ENST00000176763.5	-	19	3225	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	961							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAACTGTAGGGGAAGAACTT	0.587													5	136	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176309037	176309037	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176309037C>A	ENST00000292432.5	-	16	2236	c.2145G>T	c.(2143-2145)tgG>tgT	p.W715C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	715	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGGCGCCCCACTCCATGT	0.632													5	133	---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176332480	176332480	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176332480C>A	ENST00000377219.2	-	15	2132	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W	UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W|UIMC1_ENST00000377227.4_Missense_Mutation_p.G655W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	655					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCCATCCCTGGTGAAGGC	0.433													4	85	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177715351	177715351	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:177715351C>A	ENST00000390654.3	-	5	772	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	139	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGATTGCCCCTGTGGTAAT	0.443													6	213	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179193269	179193269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179193269C>A	ENST00000292599.3	+	2	1521	c.1258C>A	c.(1258-1260)Ccg>Acg	p.P420T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	420					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGCCACCCCGGCACCAGC	0.657													5	170	---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179676014	179676014	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179676014C>A	ENST00000452135.2	-	6	873	c.575G>T	c.(574-576)cGg>cTg	p.R192L	MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	192	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.R192L(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGGCGCCCGGTAGTACCG	0.552													6	515	---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687287	180687287	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:180687287G>T	ENST00000327767.4	-	1	832	c.528C>A	c.(526-528)ccC>ccA	p.P176P	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	176						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GCCCTGGAAGGGGCAAGGAAG	0.527													8	259	---	---	---	---
TFAP2A	7020	broad.mit.edu	37	6	10400801	10400801	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:10400801C>A	ENST00000379613.3	-	6	1167	c.911G>T	c.(910-912)aGg>aTg	p.R304M	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R302M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	302	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCCAAAGTCCCTGGCTAGGTG	0.527													5	140	---	---	---	---
ERVFRD-1	405754	broad.mit.edu	37	6	11105026	11105026	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:11105026G>T	ENST00000472091.1	-	2	893	c.518C>A	c.(517-519)cCc>cAc	p.P173H	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		173						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGGAGGTTTGGGGAATCTTGG	0.443													9	662	---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13316809	13316809	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:13316809G>T	ENST00000607658.1	-	4	582	c.432C>A	c.(430-432)ccC>ccA	p.P144P	TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000379300.3_Silent_p.P171P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	171	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TCACCAACTGGGGCAAGGAAT	0.478													7	256	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26465542	26465542	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:26465542G>T	ENST00000429381.1	+	5	1054	c.842G>T	c.(841-843)gGg>gTg	p.G281V	BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	281					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATTCTGTCAGGGGAAAAGGAG	0.403													6	215	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29454728	29454728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29454728C>A	ENST00000377127.3	-	1	1010	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	318						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGAGGCTCCCCACAAAGAAA	0.443													6	271	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694719	29694719	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29694719G>T	ENST00000440587.2	+	6	1068	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTTCTCCTGGGGGTGCTCTT	0.493													6	285	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30128473	30128473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30128473G>T	ENST00000449742.2	-	1	238	c.163C>A	c.(163-165)Cct>Act	p.P55T	TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	55						cytoplasm	zinc ion binding			ovary(1)	1						GGGCAAGTAGGGGACTCCTCC	0.617													9	318	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes					6	188	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31927105	31927105	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31927105C>A	ENST00000375394.2	+	2	167	c.54C>A	c.(52-54)ccC>ccA	p.P18P	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	18						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGACCTACCCCTTCGGGCCG	0.567													8	577	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31930234	31930234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31930234C>A	ENST00000375394.2	+	11	1196	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	SKIV2L_ENST00000544581.1_Silent_p.P168P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	361	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACTTCGCCCATCAAGGCCC	0.597													5	125	---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32905075	32905075	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:32905075C>A	ENST00000416244.2	-	3	690	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A166S			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	166	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.A166S(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGGCTGGGCAGTCTTGTGC	0.562													5	200	---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33164173	33164173	+	Missense_Mutation	SNP	C	C	A	rs112185934		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33164173C>A	ENST00000413614.2	-	4	962	c.743G>T	c.(742-744)gGg>gTg	p.G248V	RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	134					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCCCCAACCCCCATCACGAA	0.587													5	157	---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33246264	33246264	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33246264C>A	ENST00000451237.1	+	1	1348	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	356					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGACTGCGCCCTTTTGCTCCT	0.612													6	258	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33374079	33374079	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33374079G>T	ENST00000428849.2	+	8	2093	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	548	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGATTTCTGGGGAGCACTCC	0.657													7	255	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985545	34985545	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:34985545C>A	ENST00000360359.3	+	11	1857	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	573						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCCTGCCCACCACCAACA	0.647													5	113	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35980014	35980014	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:35980014G>T	ENST00000490799.1	-	3	677	c.324C>A	c.(322-324)ccC>ccA	p.P108P	SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	108					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCTTACCTTGGGGAACTTGCA	0.423													9	548	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36297859	36297859	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36297859C>A	ENST00000437635.2	-	2	786	c.609G>T	c.(607-609)agG>agT	p.R203S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	203										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGCTCACCCCTGCGAGCTG	0.647													6	107	---	---	---	---
ETV7	51513	broad.mit.edu	37	6	36334671	36334671	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36334671C>A	ENST00000373738.1	-	6	1569	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000340181.4_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	297					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTTTCTGCCCCGGTTCCTTC	0.552													9	588	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37336306	37336306	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:37336306G>T	ENST00000373479.4	+	3	480	c.287G>T	c.(286-288)aGg>aTg	p.R96M	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R96M	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	96					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACCTTTAAGGGTCTATTCC	0.413													6	367	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41617368	41617368	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41617368G>T	ENST00000373050.4	+	3	275	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W				Q99750	MDFI_HUMAN	MyoD family inhibitor	91					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCAGCCTCAGGGGAACCCCTT	0.632													8	442	---	---	---	---
TFEB	7942	broad.mit.edu	37	6	41703948	41703948	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41703948C>A	ENST00000358871.2	-	0	49				TFEB_ENST00000403298.4_De_novo_Start_OutOfFrame	NM_001167827.1	NP_001161299.2	P19484	TFEB_HUMAN	transcription factor EB						embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTCACCTTCCCTTGTTGGAAG	0.547			T	ALPHA	renal (childhood epithelioid)								7	410	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43166385	43166385	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43166385C>A	ENST00000252050.4	+	12	2926	c.2842C>A	c.(2842-2844)Cct>Act	p.P948T	CUL9_ENST00000354495.3_Missense_Mutation_p.P838T|CUL9_ENST00000372647.2_Missense_Mutation_p.P948T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	948					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGATGGGTCCCCTGAGCTACT	0.577													7	331	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43416688	43416688	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43416688C>A	ENST00000244533.3	+	17	4304	c.3945C>A	c.(3943-3945)ccC>ccA	p.P1315P	ABCC10_ENST00000372530.4_Silent_p.P1343P	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1343	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCTGGACCCCCAGGGCCTAC	0.562													4	76	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413													6	381	---	---	---	---
SLC25A27	9481	broad.mit.edu	37	6	46623673	46623673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:46623673C>A	ENST00000371347.5	+	2	452	c.200C>A	c.(199-201)cCc>cAc	p.P67H	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	67					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCTGCCCCCTATAGGGGA	0.507													6	188	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51609253	51609253	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51609253C>A	ENST00000371117.3	-	60	10361	c.10086G>T	c.(10084-10086)ctG>ctT	p.L3362L	PKHD1_ENST00000340994.4_Silent_p.L3362L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3362					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCAGACCCAGGGCTCTCC	0.448													6	258	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51777278	51777278	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51777278C>A	ENST00000371117.3	-	38	6493	c.6218G>T	c.(6217-6219)gGg>gTg	p.G2073V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2073					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACTTCATCCCCAGGGTTCCA	0.473													6	294	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	53989461	53989461	+	Missense_Mutation	SNP	G	G	T	rs143336016		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:53989461G>T	ENST00000514921.1	+	3	523	c.410G>T	c.(409-411)gGg>gTg	p.G137V	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000274897.5_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	137						nuclear envelope|PML body	protein binding	p.G137V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTCCGAAGGGGAAGATGAG	0.502													9	197	---	---	---	---
DST	667	broad.mit.edu	37	6	56481294	56481294	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:56481294C>A	ENST00000370765.6	-	24	7078	c.6971G>T	c.(6970-6972)gGg>gTg	p.G2324V	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1657					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCCTCTCCCCAAATGGAAA	0.383													6	251	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70034913	70034913	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:70034913G>T	ENST00000370598.1	+	21	3785	c.2964G>T	c.(2962-2964)tgG>tgT	p.W988C	BAI3_ENST00000238918.8_Splice_Site_p.W194C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	988					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTTGGATGGGGTAAGCATA	0.408													7	214	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75884838	75884838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:75884838C>A	ENST00000322507.8	-	13	2935	c.2626G>T	c.(2626-2628)Ggg>Tgg	p.G876W	COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	876	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATTGTGTCCCTTCCTTCAAT	0.498													6	347	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76124424	76124424	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:76124424C>A	ENST00000393004.2	-	2	486	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	FILIP1_ENST00000237172.7_Missense_Mutation_p.G89W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	89				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCAACTCCCCTTCCATTATA	0.383													7	489	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86324701	86324701	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:86324701C>A	ENST00000355238.6	-	11	1851	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	549	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCACGTACCCCGCGGCCTCTT	0.602													6	298	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87943065	87943065	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:87943065G>T	ENST00000369577.3	+	5	604	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGCTTTTGAGGGTCCCATCT	0.303													4	103	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90424370	90424370	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:90424370G>T	ENST00000369393.3	-	46	7076	c.6961C>A	c.(6961-6963)Cca>Aca	p.P2321T	MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2321					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGTTGTCTGGGGTGCTTGCA	0.493													5	168	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841442	100841442	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:100841442G>T	ENST00000369208.3	-	11	2273	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	SIM1_ENST00000262901.4_Silent_p.P497P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	497	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTTTGTCAGGGGCAAGGCTG	0.612													6	155	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109215669	109215669	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109215669G>T	ENST00000392644.4	+	6	839		c.e6-1		ARMC2_ENST00000368972.3_Splice_Site	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2								binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATTCCTCCTAGGGACCAGGGG	0.453													5	150	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109768401	109768401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109768401C>A	ENST00000368952.4	-	17	2449	c.2159G>T	c.(2158-2160)gGg>gTg	p.G720V	MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V|MICAL1_ENST00000358807.3_Missense_Mutation_p.G701V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	701	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GAGGTGTTCCCCACAAAGTGC	0.612													5	123	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110746101	110746101	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:110746101G>T	ENST00000368919.3	-	8	1775	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	570					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGAATCCCTGGGGGTAATCGC	0.418													6	302	---	---	---	---
SLC16A10	117247	broad.mit.edu	37	6	111540220	111540220	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:111540220C>A	ENST00000368850.3	+	4	834	c.348C>A	c.(346-348)ccC>ccA	p.P116P	SLC16A10_ENST00000368851.5_Silent_p.P430P			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	430					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGTCTATACCCATGACTGTTG	0.393													4	123	---	---	---	---
COL10A1	1300	broad.mit.edu	37	6	116446572	116446572	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116446572G>T	ENST00000327673.4	-	1	491	c.84C>A	c.(82-84)ccC>ccA	p.P28P	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTATGCCTGTGGGCATTTGGT	0.393													7	499	---	---	---	---
FAM26E	254228	broad.mit.edu	37	6	116832984	116832984	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116832984C>A	ENST00000368599.3	+	1	176	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	42						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTAAGTGCCCCTGCAGCACT	0.468													6	224	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129785457	129785457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129785457G>T	ENST00000421865.2	+	50	7064	c.7015G>T	c.(7015-7017)Ggg>Tgg	p.G2339W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2339					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATAGTGAGGGGACTATTCA	0.418													8	272	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129837448	129837448	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129837448C>A	ENST00000421865.2	+	65	9374	c.9325C>A	c.(9325-9327)Ctg>Atg	p.L3109M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3109	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCAAGGCCCTGGAACTGAG	0.468													4	92	---	---	---	---
CTAGE9	643854	broad.mit.edu	37	6	132030025	132030025	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132030025C>A	ENST00000314099.8	-	1	2181	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	711	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						TGAATGGGCCCCTTGTATCCA	0.522													8	288	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132047228	132047228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132047228G>T	ENST00000414305.1	+	21	2169	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	614	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGGAGGCCTAGGGTACTGCAG	0.388													5	216	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138583871	138583871	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:138583871G>T	ENST00000251691.4	+	12	1417	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	417					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCATCAAGGGTGGCATCG	0.488													5	199	---	---	---	---
ADGRG6	57211	broad.mit.edu	37	6	142736944	142736944	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:142736944G>T	ENST00000230173.6	+	20	3157	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	894					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAATTGCGAAGGGATTATCCC	0.393													5	203	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146276179	146276179	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:146276179G>T	ENST00000367503.3	-	2	678	c.280C>A	c.(280-282)Cct>Act	p.P94T	SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367505.2_Missense_Mutation_p.P94T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	94					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACAGACAAAGGGGAAAAAATA	0.363													6	311	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161652	151161652	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:151161652C>A	ENST00000367328.1	+	17	4090	c.3778C>A	c.(3778-3780)Caa>Aaa	p.Q1260K	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1260K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1260					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTAAATGCCCAAATTGCAAC	0.403													5	174	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152708417	152708417	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:152708417G>T	ENST00000367255.5	-	54	8878	c.8277C>A	c.(8275-8277)ccC>ccA	p.P2759P	SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2759					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGTTGTAAGGGATGTTCTA	0.478										HNSCC(10;0.0054)			6	239	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160905230	160905230	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:160905230G>T	ENST00000335388.5	-	0	897					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTAACACCAAGGGCCTTCCAC	0.498													4	82	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627813	170627813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:170627813C>A	ENST00000476287.1	+	2	1443	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	445					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACTCTGAACCCAGGCAAGAAG	0.498													7	568	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2985561	2985561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:2985561C>A	ENST00000396946.4	-	4	653	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCTTTGCCCCTTGGTATGT	0.493			Mis		DLBCL								6	386	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7557428	7557428	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:7557428C>A	ENST00000399429.3	-	7	994	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	285					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTACATACCCCTGGACCTCT	0.433													7	349	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25194743	25194743	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:25194743G>T	ENST00000409280.1	-	6	790	c.482C>A	c.(481-483)cCc>cAc	p.P161H	C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	161										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CGTGAAGGTGGGGAACATGGC	0.502													4	79	---	---	---	---
FKBP14	55033	broad.mit.edu	37	7	30065991	30065991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:30065991C>A	ENST00000222803.5	-	1	309	c.134G>T	c.(133-135)gGg>gTg	p.G45V		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	45	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCAAATCCCCTCCTTTGGT	0.433													6	273	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32582773	32582773	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:32582773C>A	ENST00000318709.4	+	2	335	c.114C>A	c.(112-114)ccC>ccA	p.P38P	AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	38						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTACCCGCCCCTGATTCCAG	0.423													8	342	---	---	---	---
HERPUD2	64224	broad.mit.edu	37	7	35674969	35674969	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:35674969G>T	ENST00000396081.1	-	6	1521	c.717C>A	c.(715-717)ccC>ccA	p.P239P	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCTGGTGGGGGTTCTTCTC	0.473													7	327	---	---	---	---
WBSCR28	135886	broad.mit.edu	37	7	73279465	73279465	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73279465C>A	ENST00000320531.2	+	2	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	72						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAGCCTGCCCCCTGGGCCAG	0.667													8	198	---	---	---	---
LAT2	7462	broad.mit.edu	37	7	73635998	73635998	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73635998G>T	ENST00000460943.1	+	10	1253	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	122					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TTACAACTGGGGGCGGTTCTC	0.577													5	187	---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73661093	73661093	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73661093C>A	ENST00000055077.3	-	5	393	c.333G>T	c.(331-333)agG>agT	p.R111S	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	111					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CGTCAATGCCCCTGAAAGAAT	0.418													5	181	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82545722	82545722	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:82545722G>T	ENST00000333891.9	-	7	11917	c.11580C>A	c.(11578-11580)ccC>ccA	p.P3860P	PCLO_ENST00000437081.1_Silent_p.P580P|PCLO_ENST00000423517.2_Silent_p.P3860P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				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						ATTCAGTTTGGGGAGCAGTTC	0.463													10	496	---	---	---	---
CPSF4	10898	broad.mit.edu	37	7	99051673	99051673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99051673C>A	ENST00000436336.2	+	7	741	c.580C>A	c.(580-582)Ccg>Acg	p.P194T	CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.P219T|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.P219T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAGAACCCCGCAGGTCAT	0.557													8	367	---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084289	99084289	+	Missense_Mutation	SNP	G	G	T	rs139820028		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99084289G>T	ENST00000331410.5	+	5	726	c.456G>T	c.(454-456)agG>agT	p.R152S	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATACAGCAGGGGCTTCCTTC	0.413													5	191	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99091246	99091246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99091246C>A	ENST00000337673.6	-	3	1795	c.1592G>T	c.(1591-1593)gGg>gTg	p.G531V	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	531					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAATCTTTCCCCACATTCAAG	0.458													6	391	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99117481	99117481	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99117481C>A	ENST00000394170.2	+	4	836	c.585C>A	c.(583-585)ccC>ccA	p.P195P	ZKSCAN5_ENST00000326775.5_Silent_p.P195P|ZKSCAN5_ENST00000451158.1_Silent_p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTTCCCTTCCCCTGAAGGACA	0.532													5	136	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100151028	100151028	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100151028C>A	ENST00000300176.4	+	4	612	c.490C>A	c.(490-492)Cct>Act	p.P164T	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCTCCACCCCTGTGCAGGG	0.552													5	183	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100352869	100352869	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100352869C>A	ENST00000542585.1	+	0	3293				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCAAATGCCCGCTACGAATC	0.572													8	319	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100549663	100549663	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100549663C>A	ENST00000379458.4	+	2	244	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACTACCTCCCCCCATGACAC	0.557													5	163	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675141	100675141	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100675141C>A	ENST00000306151.4	+	3	508	c.444C>A	c.(442-444)ccC>ccA	p.P148P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	148	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGACGTGCCCATGTCAACAC	0.458													7	318	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107188737	107188737	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107188737C>A	ENST00000393603.2	-	4	697	c.426G>T	c.(424-426)caG>caT	p.Q142H	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000347053.3_Missense_Mutation_p.Q142H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	142					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAACAGCTCCCTGTAAAGCCC	0.348													8	459	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107395935	107395935	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107395935G>T	ENST00000440859.3	+	5	906	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GATGTGTCCAGGGTAAGATAA	0.313													6	284	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112423930	112423930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:112423930C>A	ENST00000312814.6	-	2	1511	c.951G>T	c.(949-951)tgG>tgT	p.W317C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TATGGAATCCCCAAAGAGTTA	0.353													8	416	---	---	---	---
CAV2	858	broad.mit.edu	37	7	116146187	116146187	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116146187C>A	ENST00000343213.2	+	2	355	c.313C>A	c.(313-315)Cca>Aca	p.P105T	CAV2_ENST00000222693.4_3'UTR	NM_198212.2	NP_937855.1	P51636	CAV2_HUMAN	caveolin 2	0					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TACTTGGACCCCAGGTCTGGA	0.408													5	186	---	---	---	---
MET	4233	broad.mit.edu	37	7	116435754	116435754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116435754C>A	ENST00000397752.3	+	20	4044	c.3844C>A	c.(3844-3846)Cca>Aca	p.P1282T	MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000318493.6_Missense_Mutation_p.P1300T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1282	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGAGGAGCCCCACCTTATCC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	392	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121731808	121731808	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:121731808C>A	ENST00000393376.1	-	17	2060	c.1965G>T	c.(1963-1965)gtG>gtT	p.V655V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	655	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCAAAACTCCCACTGGACTCC	0.398													4	90	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135047678	135047678	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:135047678G>T	ENST00000541284.1	-	12	2431	c.2101C>A	c.(2101-2103)Ccc>Acc	p.P701T	CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T|CNOT4_ENST00000451834.1_Missense_Mutation_p.P698T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	370					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATCTGTGGGGGTTTTGCTG	0.527													9	509	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140434425	140434425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:140434425C>A	ENST00000288602.6	-	18	2333	c.2273G>T	c.(2272-2274)gGg>gTg	p.G758V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	758					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACCATATCCCCCTGCCTGGAT	0.438		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	752	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141408679	141408679	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141408679C>A	ENST00000397541.2	+	1	527	c.121C>A	c.(121-123)Cca>Aca	p.P41T	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	41					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGCCAAACCCCAGAGAAGGG	0.473													6	277	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141758042	141758042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141758042G>T	ENST00000475668.2	+	31	3787	c.3733G>T	c.(3733-3735)Ggg>Tgg	p.G1245W	MGAM_ENST00000549489.2_Missense_Mutation_p.G1245W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1245	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G1245W(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGTCTTTGGGGTTCCAGCT	0.463													9	597	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143140817	143140817	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143140817C>A	ENST00000332690.1	+	1	272	c.272C>A	c.(271-273)cCt>cAt	p.P91H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	91					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P91L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATACAACCCTGTACTGCAG	0.478													7	296	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141423	143141423	+	Missense_Mutation	SNP	C	C	A	rs144018396	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143141423C>A	ENST00000332690.1	+	1	878	c.878C>A	c.(877-879)cCc>cAc	p.P293H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	293					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAGTTCACCCCATCATTCTG	0.493													7	326	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143827062	143827062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143827062C>A	ENST00000408899.2	+	1	912	c.857C>A	c.(856-858)cCc>cAc	p.P286H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATGCTGAACCCCCTGATATAT	0.542													8	362	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148800929	148800929	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148800929C>A	ENST00000378061.2	-	4	2166	c.2034G>T	c.(2032-2034)agG>agT	p.R678S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAAGCTGCCCCTGATGCAGT	0.552													6	239	---	---	---	---
ZNF783	100289678	broad.mit.edu	37	7	148963960	148963960	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148963960G>T	ENST00000434415.1	+	3	634	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	157					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGCTGGAGTGGGGCAAGCTGG	0.592													6	263	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150696367	150696367	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:150696367C>A	ENST00000297494.3	+	9	1403	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	NOS3_ENST00000484524.1_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	349	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTGGAGTTCCCCGCAGCCCCC	0.632													5	164	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158451099	158451099	+	Splice_Site	SNP	T	T	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409339.3	-	17	2104	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000409423.1_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383													14	31	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830703	2830703	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:2830703C>A	ENST00000602557.1	-	58	9417	c.8862G>T	c.(8860-8862)agG>agT	p.R2954S	CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2954	Sushi 22.					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)		CAGGGGAGCCCCTCAGCTGGT	0.567													5	112	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8185557	8185557	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:8185557C>A	ENST00000520004.1	-	5	2999	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V	SGK223_ENST00000330777.4_Missense_Mutation_p.G912V			Q86YV5	SG223_HUMAN		912							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGGGGGCCCCTTTGCACTG	0.662													4	51	---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20072428	20072428	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:20072428G>T	ENST00000276390.2	+	10	1067	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	343					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GCGAGTGGAAGGGAGAAACGG	0.438													5	110	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25327468	25327468	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:25327468C>A	ENST00000330560.3	+	7	1269	c.792C>A	c.(790-792)ccC>ccA	p.P264P	CDCA2_ENST00000380665.3_Silent_p.P249P	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	264					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGTCTCTTCCCCTTTCAGAGC	0.348													5	185	---	---	---	---
RNF122	79845	broad.mit.edu	37	8	33408563	33408563	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:33408563C>A	ENST00000256257.1	-	4	670	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	90						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CACACTTACCCCATATAATTG	0.512													7	348	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793285	37793285	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:37793285G>T	ENST00000307599.4	-	7	965	c.866C>A	c.(865-867)cCc>cAc	p.P289H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	289					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CGTGTTGGGGGGGTTTAGCCA	0.602													4	36	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38109666	38109666	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38109666C>A	ENST00000397166.2	+	13	2003	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000529845.1_5'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	493					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTGAAATACCCCCGGCTCATC	0.383													8	320	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205040	38205040	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38205040G>T	ENST00000317025.8	-	2	1167	c.650C>A	c.(649-651)cCc>cAc	p.P217H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	217					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTCTAATTTGGGGATTTTGTG	0.343			T	NUP98	AML								6	322	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541471	55541471	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:55541471G>T	ENST00000220676.1	+	4	5177	c.5029G>T	c.(5029-5031)Ggg>Tgg	p.G1677W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1677					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATTCTGAAGGGCAGTCATT	0.413													8	581	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56723475	56723475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56723475C>A	ENST00000260129.5	+	11	2656	c.2179C>A	c.(2179-2181)Ctt>Att	p.L727I		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	727	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TAAGATTGCCCTTGCTCGCAA	0.353													8	580	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863046	56863046	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56863046C>A	ENST00000520220.2	+	5	524	c.250C>A	c.(250-252)Ctt>Att	p.L84I	LYN_ENST00000519728.1_Missense_Mutation_p.L105I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	105	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGCAAAGTCCCTTTTAACAAA	0.388													8	621	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61654708	61654708	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61654708C>A	ENST00000423902.2	+	2	1196	c.717C>A	c.(715-717)ccC>ccA	p.P239P	CHD7_ENST00000524602.1_Silent_p.P239P|CHD7_ENST00000525508.1_Silent_p.P239P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	239					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCACGTGCCCCAGCAGAGTC	0.577													6	231	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61773508	61773508	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61773508C>A	ENST00000423902.2	+	35	8133	c.7654C>A	c.(7654-7656)Cca>Aca	p.P2552T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2552					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATAGAGACCCCACCAACAAG	0.488													6	192	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68028335	68028335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68028335C>A	ENST00000262210.5	+	11	1490	c.1459C>A	c.(1459-1461)Ctt>Att	p.L487I	CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	522	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGCAGCGCCCTTGGTGAAAT	0.443													8	254	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68204210	68204210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68204210C>A	ENST00000262215.3	-	6	1177	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	263					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCAAGGTCCCCTTCGTGTTC	0.423													8	568	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69434117	69434117	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:69434117C>A	ENST00000337103.4	+	5	2108	c.516C>A	c.(514-516)ccC>ccA	p.P172P	C8orf34_ENST00000539993.1_Silent_p.P197P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	197					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGCTGATCCCCTAGCTGCTG	0.443													6	186	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71128949	71128949	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:71128949G>T	ENST00000452400.2	-	3	213	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGAGGGGTCAGAGGT	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	356	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74495061	74495061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:74495061C>A	ENST00000355780.5	-	11	1288	c.1070G>T	c.(1069-1071)gGg>gTg	p.G357V	STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000521451.1_Missense_Mutation_p.G169V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	389	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTGTTTTCCCCTGTCTGAAA	0.368													8	372	---	---	---	---
FABP9	646480	broad.mit.edu	37	8	82371443	82371443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:82371443C>A	ENST00000379071.2	-	2	258	c.203G>T	c.(202-204)gGg>gTg	p.G68V	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	68							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AAATTCTTCCCCCAGCTTGAA	0.403													8	500	---	---	---	---
ATP6V0D2	245972	broad.mit.edu	37	8	87126083	87126083	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:87126083C>A	ENST00000285393.3	+	2	418	c.276C>A	c.(274-276)ccC>ccA	p.P92P	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	92					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCTGGAGCCCCTCAGCACAT	0.438													9	459	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100883834	100883834	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:100883834C>A	ENST00000358544.2	+	61	11840	c.11729C>A	c.(11728-11730)cCc>cAc	p.P3910H	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3910					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGCCTTCCCCGTCACAGAA	0.557													6	262	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102570793	102570793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102570793C>A	ENST00000251808.3	+	4	769	c.431C>A	c.(430-432)cCc>cAc	p.P144H	GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	144						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATCAGCTTCCCCGAGAGCTCT	0.522													7	299	---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102731682	102731682	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102731682C>A	ENST00000395923.1	-	4	635	c.176G>T	c.(175-177)gGg>gTg	p.G59V	NCALD_ENST00000311028.3_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	59					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAGCATCCCCATAAGGGAA	0.423													7	562	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106811108	106811108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106811108C>A	ENST00000407775.2	+	7	1146	c.896C>A	c.(895-897)cCc>cAc	p.P299H	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	299					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCCTGTGCCCCTTCCCACAG	0.498													7	316	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815538	106815538	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106815538C>A	ENST00000407775.2	+	8	3478	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1076					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAAATCTCCCTCGTGGATCT	0.478													4	74	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110412391	110412391	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:110412391G>T	ENST00000378402.5	+	13	1203	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	367					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)			AAAAACGCCTGGGTACATGGG	0.448										HNSCC(38;0.096)			8	665	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120759089	120759089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:120759089G>T	ENST00000378164.2	-	23	3262	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	988					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTCTGGCAAGGGTAAACAGG	0.438													6	323	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122626619	122626619	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:122626619C>A	ENST00000303924.4	-	4	1926	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	463						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGATGTGCCCCACCCAGCTT	0.408													8	538	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627													25	57	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124096568	124096568	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124096568G>T	ENST00000287380.1	+	4	597	c.507G>T	c.(505-507)gtG>gtT	p.V169V	TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000378080.2_Silent_p.V64V	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GCCAGTCTGTGGGTATACAGA	0.413													6	303	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124693587	124693587	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124693587C>A	ENST00000262219.6	-	12	1034	c.967G>T	c.(967-969)Ggg>Tgg	p.G323W	ANXA13_ENST00000419625.1_Missense_Mutation_p.G282W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	282					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTTTGATCCCCTGAAGGTCC	0.443													8	494	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992823	124992823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124992823G>T	ENST00000522917.1	+	11	1388	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	394						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTCATTCAGGGGCAGAATCT	0.512											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	352	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131138263	131138263	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:131138263C>A	ENST00000357668.1	-	16	1481	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ASAP1_ENST00000518721.1_Missense_Mutation_p.G485V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	485	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATATGAACCCCCATTTCCCT	0.398													6	308	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135524772	135524772	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:135524772C>A	ENST00000520727.1	-	15	3570	c.3271G>T	c.(3271-3273)Ggg>Tgg	p.G1091W	ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000377838.3_Missense_Mutation_p.G1103W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCTGTGTCCCTTGAACGTCT	0.527													8	498	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139737668	139737668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139737668G>T	ENST00000303045.6	-	24	2601	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	719	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGACACCAGGGGGTCCTGGA	0.582										HNSCC(7;0.00092)			7	229	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146015222	146015222	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:146015222C>A	ENST00000262584.3	-	6	973	c.741G>T	c.(739-741)cgG>cgT	p.R247R	RPL8_ENST00000394920.2_Silent_p.R247R|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	247					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TCTTGGTTCCCCGGAGACGTC	0.587													9	493	---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1056357	1056357	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:1056357G>T	ENST00000382251.3	+	5	1099	c.770G>T	c.(769-771)aGg>aTg	p.R257M	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	257					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TATAAAGAAAGGGAGATGTTG	0.478													6	266	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2073246	2073246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:2073246C>A	ENST00000382203.1	+	11	1990	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	594					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTGACCTCCCTGTCAAAGTG	0.517													4	81	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5811200	5811200	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:5811200G>T	ENST00000339450.5	-	7	1327	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	413					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATACGAGAGGGGTAGGCAAT	0.418													6	185	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8518276	8518276	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:8518276C>A	ENST00000381196.4	-	18	1658	c.1115G>T	c.(1114-1116)gGg>gTg	p.G372V	PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	372	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTCGCCACCCCATCAATTTC	0.478										TSP Lung(15;0.13)			8	252	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168467	13168467	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:13168467C>A	ENST00000319217.7	-	22	3399	c.3152G>T	c.(3151-3153)gGg>gTg	p.G1051V	MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1051	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATGCAGTCCCCAATGGCAAT	0.463													9	448	---	---	---	---
IFNA21	3452	broad.mit.edu	37	9	21166427	21166427	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:21166427G>T	ENST00000380225.1	-	1	232	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTCCTGGGGGAATCCAAA	0.512													7	314	---	---	---	---
ACO1	48	broad.mit.edu	37	9	32420870	32420870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32420870G>T	ENST00000309951.6	+	8	953	c.815G>T	c.(814-816)gGg>gTg	p.G272V	ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCCAGGTTGGGGTAGTGGGC	0.483													6	252	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631563	32631563	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32631563C>A	ENST00000242310.4	-	1	4104	c.4015G>T	c.(4015-4017)Ggg>Tgg	p.G1339W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1339					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTTGGTCCCTTCAACCTTG	0.428													11	620	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633778	32633778	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32633778C>A	ENST00000242310.4	-	1	1889	c.1800G>T	c.(1798-1800)cgG>cgT	p.R600R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	600					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAAGGTGCCCCGAAGACCCT	0.488													7	405	---	---	---	---
PRSS3	5646	broad.mit.edu	37	9	33796754	33796754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:33796754C>A	ENST00000361005.5	+	2	325	c.325C>A	c.(325-327)Ctc>Atc	p.L109I	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	109	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CGGTGGCTCCCTCATCAGCGA	0.572													5	156	---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:34971620C>A	ENST00000242315.3	+	2	407	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	KIAA1045_ENST00000544237.1_Silent_p.R109R|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													5	255	---	---	---	---
CD72	971	broad.mit.edu	37	9	35618112	35618112	+	Missense_Mutation	SNP	C	C	A	rs150199723		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35618112C>A	ENST00000396757.1	-	3	253	c.89G>T	c.(88-90)gGg>gTg	p.G30V	CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	30					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCATCAGCCCCTGGGTCTAG	0.557													6	279	---	---	---	---
SPAG8	26206	broad.mit.edu	37	9	35811260	35811260	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35811260G>T	ENST00000340291.2	-	2	907	c.783C>A	c.(781-783)ccC>ccA	p.P261P	SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.P259P	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	261						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TAATGTCTGGGGGTTTCCATA	0.522													8	385	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37541291	37541291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:37541291C>A	ENST00000432825.2	-	2	523	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCCAACTTCCCCTGCCCTACA	0.562													7	240	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396013	38396013	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:38396013G>T	ENST00000377698.3	+	2	421	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	90					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTTCCGCCTGGGGTCCCCATG	0.667													5	143	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40773146	40773146	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:40773146C>A	ENST00000602553.1	-	5	2423	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTTCTCCCCCGTGTGAAT	0.403													12	854	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72131016	72131016	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:72131016G>T	ENST00000265381.4	-	2	1333	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	371	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCTCGTCGGGGGTGTAAGGC	0.592													5	163	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77365581	77365581	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:77365581G>T	ENST00000451710.3	-	30	5293	c.5056C>A	c.(5056-5058)Ctc>Atc	p.L1686I	TRPM6_ENST00000360774.1_Splice_Site_p.L1686M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1686					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L1686L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AATACTCACAGGGAGTTCCTA	0.393													5	139	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85925435	85925435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:85925435C>A	ENST00000304195.3	-	9	1008	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	268	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.G164W(1)|p.G268W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AATGTCTTCCCTTCAAACTTC	0.408													8	526	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86506251	86506251	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:86506251C>A	ENST00000297814.2	-	6	1911	c.1768G>T	c.(1768-1770)Ggg>Tgg	p.G590W	KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	590					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATAATGCCCCAAATGAGTA	0.378													6	281	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88938005	88938005	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88938005C>A	ENST00000277141.6	-	14	2951	c.527G>T	c.(526-528)gGg>gTg	p.G176V	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G887V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	887					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTCCTCATCCCCTGACCCAGT	0.463													7	293	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88960033	88960033	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88960033G>T	ENST00000375961.2	-	5	1070	c.856C>A	c.(856-858)Cca>Aca	p.P286T	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	286					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGTTGGTGGGGGTAACGTA	0.413													7	286	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91972384	91972384	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:91972384C>A	ENST00000375807.3	+	15	2243	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	724					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAACATTCCCTTTGTGTTTG	0.483													7	485	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95227269	95227269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95227269C>A	ENST00000375544.3	-	5	887	c.644G>T	c.(643-645)gGg>gTg	p.G215V	ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	215					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCAAATGCCCCTGGCTCTAT	0.398													6	345	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277239	95277239	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277239C>A	ENST00000344604.5	-	4	877	c.728G>T	c.(727-729)gGg>gTg	p.G243V	ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	243					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTGCTGTCCCCCTCACTGTA	0.527													10	676	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277276	95277276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277276G>T	ENST00000344604.5	-	4	840	c.691C>A	c.(691-693)Cct>Act	p.P231T	ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	231					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTAGATTCAGGGGTCTCTCTC	0.498													8	578	---	---	---	---
KLF4	9314	broad.mit.edu	37	9	110248118	110248118	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:110248118C>A	ENST00000374672.4	-	5	1827	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	486					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGGCGGTGCCCCGTGTGTTTA	0.532													6	233	---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625668	111625668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:111625668G>T	ENST00000333999.3	+	1	1066	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	356						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACCTCATGGGGAACATCCT	0.577													5	170	---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898575	112898575	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898575C>A	ENST00000374530.3	+	8	931	c.751C>A	c.(751-753)Cca>Aca	p.P251T	AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000259318.7_Missense_Mutation_p.P20T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		20							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CACCTCTACCCCACATCCCAT	0.498													7	350	---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898615	112898615	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898615C>A	ENST00000374530.3	+	8	971	c.791C>A	c.(790-792)cCg>cAg	p.P264Q	AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.P33Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		33							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TATTCACCCCCGCATAATGGC	0.488													5	340	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118949849	118949849	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118949849C>A	ENST00000328252.3	+	2	1201	c.832C>A	c.(832-834)Cac>Aac	p.H278N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	278	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGCGCCCACACTGCTCT	0.567													6	170	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118974050	118974050	+	Missense_Mutation	SNP	C	C	A	rs146832580	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118974050C>A	ENST00000328252.3	+	4	2126	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	586					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAGTGACCCCTGCATGGAG	0.562													6	251	---	---	---	---
OR1J2	26740	broad.mit.edu	37	9	125273777	125273777	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125273777G>T	ENST00000335302.5	+	1	697	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCAACCAAAGGGATCCACAA	0.498													6	224	---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125316129	125316129	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125316129C>A	ENST00000373688.2	+	1	739	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTGTTCCCCTCCTGCTGA	0.507													7	345	---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125622392	125622392	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125622392G>T	ENST00000373670.1	-	10	2253	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	551						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGGAGTCTTGGGTGGAGAAC	0.393													6	295	---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125760997	125760997	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125760997C>A	ENST00000373647.4	+	10	1460	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	442					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TATTCTGGCCCTTCAGCAAAC	0.373													6	264	---	---	---	---
GOLGA1	2800	broad.mit.edu	37	9	127652687	127652687	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:127652687C>A	ENST00000373555.4	-	16	1811	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	493	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAACTCTTCCCTTTGCTTCCG	0.582													7	145	---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129930977	129930977	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:129930977C>A	ENST00000259351.5	+	10	1035	c.768C>A	c.(766-768)ccC>ccA	p.P256P	RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	256	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCACCCTGCCCCATGTGCAGA	0.478													6	280	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134090730	134090730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:134090730G>T	ENST00000359428.5	+	31	5868	c.5724G>T	c.(5722-5724)ggG>ggT	p.G1908G	NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000451030.1_Silent_p.G1909G			P35658	NU214_HUMAN	nucleoporin 214kDa	1908	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CGGCCAGTGGGGGCTTTGGAT	0.507			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	151	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138714837	138714837	+	Missense_Mutation	SNP	G	G	T	rs138818284	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:138714837G>T	ENST00000389532.4	-	11	1734	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	557						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGGAACTCCGGGTCAGCCTG	0.577													5	366	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139357510	139357510	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:139357510G>T	ENST00000313050.7	-	10	4795	c.4722C>A	c.(4720-4722)ccC>ccA	p.P1574P	SEC16A_ENST00000371706.3_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1396					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGCTTCATTGGGCGACTTCC	0.552													5	121	---	---	---	---
ENTPD8	377841	broad.mit.edu	37	9	140331457	140331457	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:140331457C>A	ENST00000371506.2	-	5	602	c.419G>T	c.(418-420)aGg>aTg	p.R140M	ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000472938.1_Missense_Mutation_p.R140M	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	140						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGATGTCCCTGGCCTGAGA	0.687													4	70	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7262401	7262401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:7262401C>A	ENST00000361972.4	-	11	1392	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	434					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTAGCCGCCCCTTCACACTCA	0.522													7	237	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12155041	12155041	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12155041C>A	ENST00000263035.4	+	13	2359	c.2297C>A	c.(2296-2298)cCt>cAt	p.P766H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	766					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTTGCTTCCCCTAAGATGTTA	0.433													4	129	---	---	---	---
SEC61A2	55176	broad.mit.edu	37	10	12203061	12203061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12203061G>T	ENST00000379033.3	+	9	1189	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G370W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	370						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTTCATGTTGGGGTCATGTGC	0.423													6	231	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13361211	13361211	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13361211G>T	ENST00000327347.5	-	9	1485	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	370					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CGATGATCCGGGGTTTGTCTA	0.488													8	528	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13900904	13900904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13900904C>A	ENST00000357447.2	-	3	422	c.54G>T	c.(52-54)gaG>gaT	p.E18D	FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	18						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ATCGGCGGCCCTCCGTCATCT	0.498													5	205	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24874770	24874770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:24874770G>T	ENST00000396432.2	-	26	4934	c.4448C>A	c.(4447-4449)cCc>cAc	p.P1483H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1482					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTCGTGCTGGGGTCTTTCCT	0.423													9	589	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26849107	26849107	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:26849107G>T	ENST00000376236.4	+	12	1684	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	410	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTTAACCAGTGGGTCATGGGA	0.502													6	161	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31137869	31137869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:31137869G>T	ENST00000452305.1	-	8	1998	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGGGCTTAGGGGAAGAGCTG	0.473													9	260	---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32560609	32560609	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:32560609G>T	ENST00000319778.6	-	13	2544	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000263062.8_Missense_Mutation_p.P771T	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	771					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCATTTATTGGGGCAATAGAG	0.443													6	352	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33469173	33469173	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:33469173C>A	ENST00000265371.4	-	18	3128	c.2603G>T	c.(2602-2604)gGg>gTg	p.G868V	NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V|NRP1_ENST00000395995.1_Missense_Mutation_p.G851V			O14786	NRP1_HUMAN	neuropilin 1	868					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CAGGAGGACCCCCAGGGCACT	0.522													6	257	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43288532	43288532	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:43288532G>T	ENST00000374518.5	+	8	1092	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGAGTTGGGGGTGTGCTGT	0.483													9	339	---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44140142	44140142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:44140142G>T	ENST00000395797.1	-	3	366	c.178C>A	c.(178-180)Cca>Aca	p.P60T	ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCGAATCTGGGGATTTTTGT	0.463													7	371	---	---	---	---
UBE2D1	7321	broad.mit.edu	37	10	60127731	60127731	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:60127731C>A	ENST00000373910.4	+	6	580	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CCAGATGACCCCTTAGTACCA	0.313													6	274	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61831142	61831142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:61831142G>T	ENST00000280772.2	-	37	9688	c.9497C>A	c.(9496-9498)cCt>cAt	p.P3166H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGGTTAAAGGGCTTTTCCC	0.448													5	174	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63845636	63845636	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:63845636C>A	ENST00000279873.7	+	9	1785	c.1375C>A	c.(1375-1377)Cca>Aca	p.P459T	ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	459					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGAAAATGCCCCAAAGCCCCA	0.448													7	231	---	---	---	---
H2AFY2	55506	broad.mit.edu	37	10	71868954	71868954	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:71868954C>A	ENST00000373255.4	+	8	1208	c.944C>A	c.(943-945)cCc>cAc	p.P315H	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	315	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CCGCCTTTCCCCAGCGGCAGG	0.542													5	80	---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73578465	73578465	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:73578465G>T	ENST00000394936.3	-	13	1595	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	PSAP_ENST00000394934.1_Missense_Mutation_p.P485H			P07602	SAP_HUMAN	prosaposin	483	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGGGCCGAGGGGCAGGCTCC	0.493													6	296	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74810827	74810827	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:74810827C>A	ENST00000412021.2	-	8	1217	c.884G>T	c.(883-885)gGg>gTg	p.G295V	P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000307116.2_Missense_Mutation_p.G295V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	295						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATACCCTCCCCACGGCACAG	0.418													11	582	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79785871	79785871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:79785871C>A	ENST00000372371.3	-	2	298	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	54					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCGAGCACCCCATATAGCAA	0.537													5	150	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87487628	87487628	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:87487628C>A	ENST00000327946.7	-	10	1602	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	506						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GATGAGCTCCCCGATCATCCC	0.542										Multiple Myeloma(13;0.14)			5	181	---	---	---	---
IFIT1	3434	broad.mit.edu	37	10	91162647	91162647	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:91162647C>A	ENST00000546318.1	+	2	1809	c.522C>A	c.(520-522)ccC>ccA	p.P174P	IFIT1_ENST00000371804.3_Silent_p.P205P|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	205					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	p.P205P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTTTGCTTCCCCTAAGGCAGG	0.463													10	693	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93851634	93851634	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:93851634G>T	ENST00000412050.4	-	8	1686	c.1598C>A	c.(1597-1599)cCc>cAc	p.P533H	CPEB3_ENST00000265997.4_Missense_Mutation_p.P547H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	547							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGTTTTTCTGGGGTCCAAAGG	0.433													5	137	---	---	---	---
ALDH18A1	5832	broad.mit.edu	37	10	97366611	97366611	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:97366611C>A	ENST00000371224.2	-	18	2433	c.2296G>T	c.(2296-2298)Ggg>Tgg	p.G766W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	766	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TGGTCCTTCCCTCGCAGCAGC	0.488													7	400	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98824595	98824595	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:98824595C>A	ENST00000266058.4	-	6	769	c.524G>T	c.(523-525)gGg>gTg	p.G175V	SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	175					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACGGAAGGCCCCTTCCTCAAT	0.562													6	310	---	---	---	---
RRP12	23223	broad.mit.edu	37	10	99139075	99139075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99139075G>T	ENST00000370992.4	-	15	1884	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000414986.1_Silent_p.P530P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	591						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTTAGCCAGGGGCAAGAAGT	0.562													10	445	---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99203015	99203015	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99203015C>A	ENST00000370902.3	-	3	232	c.201G>T	c.(199-201)gtG>gtT	p.V67V	EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458													7	442	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101715791	101715791	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:101715791C>A	ENST00000342239.3	-	4	1531	c.1440G>T	c.(1438-1440)agG>agT	p.R480S	DNMBP_ENST00000324109.4_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	480					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGAAGAGCCCCTGTAAAGAG	0.473													6	300	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102107910	102107910	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102107910C>A	ENST00000370355.2	+	2	498	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	39					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AGACGATGCCCCTCTACTTGG	0.507													7	261	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102698452	102698452	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102698452C>A	ENST00000238961.4	+	11	3155	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P	FAM178A_ENST00000370269.3_Silent_p.P871P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		CTTTGTTTCCCCTGGAGAATC	0.363													6	352	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826089	103826089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826089G>T	ENST00000299238.5	+	1	943	c.858G>T	c.(856-858)ggG>ggT	p.G286G		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	286						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGACTTCGGGGGCACTGTGA	0.672									Hermansky-Pudlak syndrome				4	76	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826902	103826902	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826902C>A	ENST00000299238.5	+	1	1756	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	557						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAAAGGAACCCCCCAATGGAA	0.587									Hermansky-Pudlak syndrome				5	118	---	---	---	---
SUFU	51684	broad.mit.edu	37	10	104264005	104264005	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:104264005G>T	ENST00000369902.3	+	1	262	c.96G>T	c.(94-96)ccG>ccT	p.P32P	SUFU_ENST00000423559.2_Silent_p.P32P|SUFU_ENST00000369899.2_Silent_p.P32P	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	32					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCTTTCCCCCGGGACTGCACG	0.721			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				3	40	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105363021	105363021	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:105363021G>T	ENST00000369774.4	-	15	2230	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	652	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCCTGGTCAGGGACAGCGAG	0.572													6	313	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106737151	106737151	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:106737151G>T	ENST00000369701.3	+	4	1081	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	285						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGACGAAGGGGCGACCTAT	0.468													5	164	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111633142	111633142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:111633142G>T	ENST00000502935.1	-	16	1554	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	436					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAGGCTGTAGGGGTCCCAAAA	0.413													7	252	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115413823	115413823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115413823G>T	ENST00000369358.4	-	5	666	c.422C>A	c.(421-423)cCc>cAc	p.P141H	NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000359988.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	141						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TACAATTTCGGGGTCTGGCAG	0.463													7	454	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115540429	115540429	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115540429C>A	ENST00000354462.3	+	6	644	c.486C>A	c.(484-486)ccC>ccA	p.P162P	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P					pleckstrin homology domain containing, family S member 1																		GTATGTGTCCCTCAAAATGCC	0.453													4	105	---	---	---	---
RGS10	6001	broad.mit.edu	37	10	121275092	121275092	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:121275092C>A	ENST00000392865.1	-	4	348	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.G102W|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CGAGACTGCCCCTCCACGTTG	0.552													4	69	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970974	123970974	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:123970974C>A	ENST00000369005.1	+	9	7374	c.7034C>A	c.(7033-7035)cCc>cAc	p.P2345H	TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2345	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGGATGACCCCAATTTTAAC	0.473													8	510	---	---	---	---
BTBD16	118663	broad.mit.edu	37	10	124049456	124049456	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:124049456C>A	ENST00000368994.2	+	6	672	c.421C>A	c.(421-423)Cct>Act	p.P141T	BTBD16_ENST00000260723.4_Missense_Mutation_p.P140T			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	140										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAAAATCCCCTGCAAAGAG	0.428													6	290	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127731623	127731623	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127731623G>T	ENST00000368679.4	-	18	2408	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	700					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCCGGATGGGGCCGCTGTC	0.627													4	43	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127787032	127787032	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127787032G>T	ENST00000368679.4	-	10	1267	c.958C>A	c.(958-960)Cca>Aca	p.P320T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	320	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCATGATTGGGGCCATGCCG	0.473													7	362	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129923869	129923869	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:129923869G>T	ENST00000368654.3	-	2	438	c.63C>A	c.(61-63)ccC>ccA	p.P21P	MKI67_ENST00000368653.3_Silent_p.P21P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	21					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGGCTCAGGGGAAAGTGGG	0.527													6	189	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131640484	131640484	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:131640484G>T	ENST00000368648.3	-	13	1313	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	EBF3_ENST00000355311.5_Missense_Mutation_p.P423H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	423					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCAGGGTGGGGATCTGGTT	0.617													7	282	---	---	---	---
DUSP8	1850	broad.mit.edu	37	11	1579410	1579410	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:1579410C>A	ENST00000397374.3	-	5	756	c.629G>T	c.(628-630)cGg>cTg	p.R210L	DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GATGGGGACCCGCATGAAGCG	0.577													4	167	---	---	---	---
ZNF195	7748	broad.mit.edu	37	11	3381267	3381267	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:3381267C>A	ENST00000354599.6	-	4	859	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ZNF195_ENST00000399602.4_Missense_Mutation_p.G324V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTAATGTTCCCCTCCGGCATA	0.388													6	370	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4144501	4144501	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4144501C>A	ENST00000300738.5	+	12	1411	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	RRM1_ENST00000423050.2_Missense_Mutation_p.P306T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	403					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AACAGGCACCCCGTATATGCT	0.463													7	202	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4148347	4148347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4148347C>A	ENST00000300738.5	+	14	1757	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	RRM1_ENST00000423050.2_Missense_Mutation_p.P421H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	518					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATGAGATACCCTTTTGAGAGT	0.458													6	297	---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615305	4615305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4615305C>A	ENST00000450052.2	+	2	109	c.109C>A	c.(109-111)Cct>Act	p.P37T	OR52I1_ENST00000530443.2_Missense_Mutation_p.P13T			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGAAACCCCTGCCTCCTT	0.473													6	382	---	---	---	---
HBB	3043	broad.mit.edu	37	11	5247873	5247873	+	Missense_Mutation	SNP	C	C	A	rs33991993		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5247873C>A	ENST00000335295.4	-	2	298	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta			Not glycated.	K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAAGGTGCCCTTGAGGTTGT	0.537									Sickle Cell Trait				6	142	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758698	5758698	+	Missense_Mutation	SNP	C	C	A	rs148131819		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5758698C>A	ENST00000317121.3	+	1	1018	c.952C>A	c.(952-954)Ctt>Att	p.L318I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGTTTGCCCTTACAAAAGA	0.408													8	375	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776301	5776301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5776301G>T	ENST00000317254.3	+	1	379	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACCTTCACAGGGATGGAGTC	0.478													6	246	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9182364	9182364	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9182364C>A	ENST00000328194.3	-	12	2652	c.2332G>T	c.(2332-2334)Ggg>Tgg	p.G778W	DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	778										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCCCATGCCCTAGCTCCACA	0.498													5	169	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9191477	9191477	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9191477G>T	ENST00000328194.3	-	10	2397	c.2077C>A	c.(2077-2079)Cct>Act	p.P693T	DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	693										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACTGGGCAGGGGCATTCCTT	0.433													6	352	---	---	---	---
IPO7	10527	broad.mit.edu	37	11	9430093	9430093	+	Missense_Mutation	SNP	G	G	T	rs148503390	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9430093G>T	ENST00000379719.3	+	3	369	c.227G>T	c.(226-228)gGg>gTg	p.G76V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	76	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGCACCAGGGGATATATCC	0.368													5	191	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9867158	9867158	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9867158G>T	ENST00000256190.8	-	24	3201	c.3064C>A	c.(3064-3066)Cca>Aca	p.P1022T	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1022					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATTATTTGTGGGGTAGTTTGT	0.383													7	297	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17111359	17111359	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:17111359G>T	ENST00000265970.7	-	32	4986	c.4987C>A	c.(4987-4989)Ctg>Atg	p.L1663M	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1663					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTCAAAGGCAGGGTTACTCCA	0.423													7	513	---	---	---	---
MRGPRX2	117194	broad.mit.edu	37	11	19077926	19077926	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:19077926C>A	ENST00000329773.2	-	2	111	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	8					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTTCTGTTCCCCAGGCCGGGG	0.502													9	517	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070636	20070636	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20070636G>T	ENST00000396085.1	+	15	4626	c.4265G>T	c.(4264-4266)gGg>gTg	p.G1422V	NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1445V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1445	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCAGTGGAGGGGTCCCCAGC	0.567													6	226	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20104694	20104694	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20104694C>A	ENST00000396085.1	+	27	5837	c.5476C>A	c.(5476-5478)Cca>Aca	p.P1826T	NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000396087.3_Missense_Mutation_p.P1882T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1882	Poly-Lys.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTTCCACCCCACTGCTGAG	0.488													7	171	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358													8	255	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44146521	44146521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:44146521C>A	ENST00000395673.3	+	5	1081	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000343631.3_Missense_Mutation_p.P309Q	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	309					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCGATTACCCACAGGTGCTA	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				5	135	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45245859	45245859	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:45245859G>T	ENST00000263765.4	+	8	1185	c.936G>T	c.(934-936)caG>caT	p.Q312H	PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|PRDM11_ENST00000530656.1_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	312										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGAGACAGGGCAAAAGTC	0.507													8	345	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47281462	47281462	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47281462G>T	ENST00000467728.1	+	2	1402	c.164G>T	c.(163-165)gGg>gTg	p.G55V	NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	55					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGTACTGCAGGGGTGGGGCTG	0.657											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296695	47296695	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47296695C>A	ENST00000342922.4	+	3	1001	c.644C>A	c.(643-645)cCt>cAt	p.P215H	MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000311027.5_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	215	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGGCATCCCTCGAGGCGTA	0.498													5	172	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47299747	47299747	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47299747G>T	ENST00000342922.4	+	6	1484	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000311027.5_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	376	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACATCATTGGGGTTCCTGCC	0.458													8	502	---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47508712	47508712	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47508712C>A	ENST00000395290.2	-	2	269	c.260G>T	c.(259-261)gGg>gTg	p.G87V	CELF1_ENST00000358597.3_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	87	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTTTCTTACCCCTGGGAGGAC	0.388													6	305	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003461	50003461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:50003461G>T	ENST00000335238.4	-	1	610	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGACCAAGGGTATGAGTG	0.408													5	151	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020461	56020461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:56020461G>T	ENST00000303059.3	+	1	786	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K262N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATTCTGCTAAGGGAAGGCAAA	0.413													8	470	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077242	57077242	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:57077242G>T	ENST00000532437.1	-	5	3254	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	TNKS1BP1_ENST00000358252.3_Silent_p.P981P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	981	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGAGCTCAGGGGTCTCGTTC	0.567													8	167	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211048	59211048	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:59211048C>A	ENST00000302030.2	+	1	432	c.407C>A	c.(406-408)cCc>cAc	p.P136H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTTCTCTACCCCACTATCATG	0.542													11	505	---	---	---	---
PPP1R32	220004	broad.mit.edu	37	11	61254627	61254627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61254627G>T	ENST00000338608.2	+	11	1083	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	320								p.G320R(1)									GGAGCCCACAGGGTTCAGCCT	0.562													6	354	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61730039	61730039	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61730039C>A	ENST00000449131.2	+	9	1319	c.1233C>A	c.(1231-1233)ccC>ccA	p.P411P	BEST1_ENST00000378042.3_Silent_p.P384P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Silent_p.P471P|BEST1_ENST00000301774.9_Silent_p.P99P	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	471					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CACAGACGCCCCTCAGCCCCA	0.552													5	84	---	---	---	---
SCGB2A2	4250	broad.mit.edu	37	11	62038408	62038408	+	Silent	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000525380.1	+	2	170	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000227918.2_Silent_p.V37V			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37						extracellular region	steroid binding	p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418													55	128	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287590	62287590	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62287590G>T	ENST00000378024.4	-	5	14573	c.14299C>A	c.(14299-14301)Cct>Act	p.P4767T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4767					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCAGGGGTGTTGATG	0.517													7	335	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292624	62292624	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62292624G>T	ENST00000378024.4	-	5	9539	c.9265C>A	c.(9265-9267)Ccc>Acc	p.P3089T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3089					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCTTTGATG	0.458													12	543	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294419	62294419	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294419C>A	ENST00000378024.4	-	5	7744	c.7470G>T	c.(7468-7470)agG>agT	p.R2490S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTGGGGCCCCTGATGTTCA	0.478													6	300	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294886	62294886	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294886G>T	ENST00000378024.4	-	5	7277	c.7003C>A	c.(7003-7005)Cca>Aca	p.P2335T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2335					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCAGCTTTGGGGCAGAAACA	0.458													8	476	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295786	62295786	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62295786G>T	ENST00000378024.4	-	5	6377	c.6103C>A	c.(6103-6105)Cca>Aca	p.P2035T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2035					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATCAATG	0.493													10	682	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62375763	62375763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62375763C>A	ENST00000394773.2	-	10	1423	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	372						cytoplasm|microtubule	protein binding	p.Q372H(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAAGGCACCCTGATCCTGAA	0.532													6	259	---	---	---	---
RARRES3	5920	broad.mit.edu	37	11	63312350	63312350	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63312350C>A	ENST00000439013.2	+	3	429	c.376C>A	c.(376-378)Cgc>Agc	p.R126S	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000255688.3_Missense_Mutation_p.R126S			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	126					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.R126S(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGGCAAGTCCCGCTGTAAACA	0.517													5	287	---	---	---	---
PLA2G16	11145	broad.mit.edu	37	11	63381507	63381507	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63381507C>A	ENST00000323646.5	-	0	334				PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_De_novo_Start_OutOfFrame	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI						lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GGTGTGGACCCTCAAGGCCAG	0.627													5	119	---	---	---	---
BAD	572	broad.mit.edu	37	11	64037705	64037705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64037705C>A	ENST00000394532.3	-	3	753	c.483G>T	c.(481-483)agG>agT	p.R161S	BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	161					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGGAGCTTCCCCTGCCCAAGT	0.627													5	74	---	---	---	---
GPR137	56834	broad.mit.edu	37	11	64055537	64055537	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64055537G>T	ENST00000539851.1	+	5	1101	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	GPR137_ENST00000313074.3_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	212						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTGTGCCAGGGGACCAGTGT	0.642													5	112	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64427831	64427831	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64427831C>A	ENST00000265459.6	-	11	2823	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W	NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G788W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	788	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTCATCTGCCCCCCATCCAGC	0.617													5	115	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64525943	64525943	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64525943C>A	ENST00000164139.3	-	3	788	c.390G>T	c.(388-390)gcG>gcT	p.A130A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	130					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)	TGCCCAGCCCCGCATCCTCCT	0.652													5	163	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64537846	64537846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64537846C>A	ENST00000377390.3	-	4	608	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G91W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	91					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGCCGCTTCCCCTCGCTATTG	0.532													5	188	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64676776	64676776	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64676776G>T	ENST00000421419.2	-	15	2285	c.2171C>A	c.(2170-2172)cCc>cAc	p.P724H	ATG2A_ENST00000377264.3_Missense_Mutation_p.P724H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	724							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGTGCTCTTGGGGTCCAGGGC	0.617													4	103	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65320672	65320672	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65320672G>T	ENST00000301873.5	-	5	1294	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	342						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTAGCCCTGGGGACAGTCAG	0.627													5	132	---	---	---	---
SSSCA1	10534	broad.mit.edu	37	11	65339074	65339074	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65339074C>A	ENST00000531405.1	+	3	594	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.L157I			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157	Pro-rich.				cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						ACAGACAGCCCTCTTGCAGAA	0.617													4	104	---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65350073	65350073	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65350073C>A	ENST00000309295.4	+	9	2195	c.1930C>A	c.(1930-1932)Cca>Aca	p.P644T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	644	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CATAGAGACCCCAGGGACAGA	0.542													4	96	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66192519	66192519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66192519C>A	ENST00000311034.2	+	7	2334	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCTCTACCCCAGATCCCAG	0.582													6	188	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66367007	66367007	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66367007C>A	ENST00000533244.1	+	4	769	c.328C>A	c.(328-330)Cct>Act	p.P110T	CCS_ENST00000310190.4_Missense_Mutation_p.P91T	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	110	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACAGCTGACCCCTGAGCGCTG	0.612													4	38	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67072366	67072366	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:67072366G>T	ENST00000308127.4	+	3	405	c.227G>T	c.(226-228)gGg>gTg	p.G76V	SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	76					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCTCCACGGGGACCAGACA	0.622													4	48	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948310	71948310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:71948310C>A	ENST00000298229.2	+	26	3226	c.3022C>A	c.(3022-3024)Cct>Act	p.P1008T	INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1008	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCAGGGCCCCTGTCCCATC	0.632													5	151	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74547027	74547027	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:74547027G>T	ENST00000299563.4	+	6	1392	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	460							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGAAATGGGGGAAGAGTTA	0.473													7	357	---	---	---	---
DGAT2	84649	broad.mit.edu	37	11	75507428	75507428	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:75507428C>A	ENST00000228027.7	+	5	745	c.485C>A	c.(484-486)cCc>cAc	p.P162H	DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	162					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGATACCACCCCCATGGTATC	0.547													6	353	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs139075721	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY.					intracellular	zinc ion binding	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													6	225	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92523311	92523311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:92523311C>A	ENST00000298047.6	+	7	4555	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H|FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1513	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGATTGACCCTAGCACTGGC	0.488										TCGA Ovarian(4;0.039)			6	264	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134379	94134379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:94134379G>T	ENST00000243673.2	-	1	206	c.35C>A	c.(34-36)cCc>cAc	p.P12H	GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	12						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCACCAAGGGGAGGAGACA	0.706													5	59	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATGTCCTTGGGGTATCCGTG	0.448													7	535	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAAGGGATAAGGAA	0.433													8	312	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820932	102820932	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820932G>T	ENST00000260302.3	-	6	852	c.824C>A	c.(823-825)cCt>cAt	p.P275H	MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	275					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGGATGTTTAGGGTTGGGGTC	0.448													6	370	---	---	---	---
CARD17	440068	broad.mit.edu	37	11	104971436	104971436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:104971436C>A	ENST00000375707.1	-	2	94	c.78G>T	c.(76-78)ctG>ctT	p.L26L	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATAATTCACCCAGTAAGCCAT	0.438													7	439	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118501983	118501983	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:118501983G>T	ENST00000361417.2	+	8	2298	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G	PHLDB1_ENST00000356063.5_Silent_p.G629G|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	629										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGCTGATGGGGGACCTGAGG	0.667													7	238	---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:125547733C>A	ENST00000533904.1	-	2	854	c.512G>T	c.(511-513)gGg>gTg	p.G171V	ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542													5	137	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493													6	360	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839338	128839338	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:128839338C>A	ENST00000310343.9	-	22	5727	c.5728G>T	c.(5728-5730)Ggg>Tgg	p.G1910W	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1910	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCTGGAATCCCTTTGGACCCA	0.502													5	172	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752403	129752403	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:129752403C>A	ENST00000446488.3	-	9	1128	c.1025G>T	c.(1024-1026)gGg>gTg	p.G342V	NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	342					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGGTGCGACCCCTTCAGTACT	0.468													6	249	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	978200	978200	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:978200C>A	ENST00000537687.1	+	9	3951	c.3308C>A	c.(3307-3309)cCc>cAc	p.P1103H	WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	849					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCTGTTTCCCCCAAGGAACC	0.458													9	780	---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1039296	1039296	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:1039296C>A	ENST00000539046.1	-	0	82				RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000358495.3_Missense_Mutation_p.E67D			P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCGATGACCCTCAATGTAGC	0.398								Homologous recombination					4	111	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6640148	6640148	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6640148C>A	ENST00000315579.5	+	31	4825	c.4026C>A	c.(4024-4026)ccC>ccA	p.P1342P	NCAPD2_ENST00000545962.1_Silent_p.P1297P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1342					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.P1342P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CACCAGAGCCCCGCCGTACTA	0.483													5	118	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6710586	6710586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6710586C>A	ENST00000309577.6	-	6	831	c.668G>T	c.(667-669)gGg>gTg	p.G223V	CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000357008.2_Missense_Mutation_p.G223V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	223					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACTGATGCCCCAGAACTGCC	0.562													7	324	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7635313	7635313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:7635313C>A	ENST00000359156.4	-	14	3375	c.3173G>T	c.(3172-3174)gGg>gTg	p.G1058V	CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000541972.1_Missense_Mutation_p.G1046V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1058					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGAACAACCCCAAGGATCCC	0.413													6	244	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21391915	21391915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:21391915G>T	ENST00000256958.2	+	15	1964	c.1868G>T	c.(1867-1869)aGg>aTg	p.R623M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	623					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTACAGAAGGGTCTACTTG	0.264													5	188	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27933756	27933756	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:27933756C>A	ENST00000381271.2	+	1	804	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		GTGCAAGCCCCAGTTCCACCT	0.662													4	99	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29463970	29463970	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29463970G>T	ENST00000536681.3	+	7	1024	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GACTGGGAAAGGGTTTCTTCG	0.408													5	226	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29614858	29614858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29614858G>T	ENST00000318184.5	-	19	2208	c.2209C>A	c.(2209-2211)Cat>Aat	p.H737N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	737	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCTCCTGGATGGGCAGAATAG	0.458													5	226	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43847793	43847793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:43847793C>A	ENST00000389420.3	-	12	1676	c.1677G>T	c.(1675-1677)tgG>tgT	p.W559C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	559	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCCCATTCACCAT	0.413													4	44	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49415605	49415605	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:49415605G>T	ENST00000301067.7	-	54	16571	c.16572C>A	c.(16570-16572)ccC>ccA	p.P5524P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACAGTGGCAGGGGATCTTGT	0.507													4	96	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51126155	51126155	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:51126155G>T	ENST00000301180.5	+	32	3851	c.3817G>T	c.(3817-3819)Ggg>Tgg	p.G1273W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1273						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCAGACCAGAGGGATCAACCT	0.537													5	183	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52145217	52145217	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:52145217C>A	ENST00000354534.6	+	14	2388	c.2210C>A	c.(2209-2211)cCc>cAc	p.P737H	SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGTGCCACCCCTACTGGATA	0.428													6	279	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53709129	53709129	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53709129G>T	ENST00000209873.4	-	4	554	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	130					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGACAGATGGGGGAACAGGGA	0.582													4	50	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53876438	53876438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53876438C>A	ENST00000267079.2	-	12	2275	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	684					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTGAGGTCCCTTCCCTTCCA	0.637													6	261	---	---	---	---
CBX5	23468	broad.mit.edu	37	12	54639979	54639979	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:54639979C>A	ENST00000209875.4	-	4	481	c.345G>T	c.(343-345)cgG>cgT	p.R115R	CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000439541.2_Silent_p.R115R	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	115					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTCAAAGCCCCGAGCGATAT	0.413													7	371	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715238	55715238	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55715238C>A	ENST00000379668.2	+	1	893	c.855C>A	c.(853-855)ccC>ccA	p.P285P		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGAACCCCTTTATTTACA	0.408													6	335	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945163	55945163	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55945163C>A	ENST00000394256.2	+	1	181	c.153C>A	c.(151-153)ccC>ccA	p.P51P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TACTAGACCCCCACCTCCAGA	0.418													9	596	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56525301	56525301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56525301G>T	ENST00000394048.5	+	6	1019	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V|ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	252						integral to membrane		p.G252V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACTCATTGGGGACCTTCCC	0.527													7	405	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56527607	56527607	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56527607C>A	ENST00000394048.5	+	13	1687	c.1423C>A	c.(1423-1425)Ccg>Acg	p.P475T	ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	475	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACCAGATCCCCCGTCAGCTGC	0.567													5	189	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531371	56531371	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56531371C>A	ENST00000394048.5	+	18	2291	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H|ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	676	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGTCAGACCCCTATGTCAAA	0.512													7	332	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56743919	56743919	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56743919C>A	ENST00000314128.4	-	13	1194	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	391					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGACTCTGCCCCTTCTCGGGG	0.408													6	271	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	56997322	56997322	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56997322C>A	ENST00000179765.5	-	18	3310	c.3111G>T	c.(3109-3111)agG>agT	p.R1037S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1069S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1069					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCTTCGACCCCTGCGGCCAG	0.493													7	293	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57109690	57109690	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57109690G>T	ENST00000454682.1	-	3	5905	c.5624C>A	c.(5623-5625)cCc>cAc	p.P1875H	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	12					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTGGCAGAGGGGGTTGGGAC	0.572			T	BCL6	NHL								6	174	---	---	---	---
INHBE	83729	broad.mit.edu	37	12	57849951	57849951	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57849951C>A	ENST00000266646.2	+	2	589	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTACCATGCCCGCCTGTGGCT	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	245	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58126738	58126738	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:58126738C>A	ENST00000257897.3	-	6	651	c.566G>T	c.(565-567)cGg>cTg	p.R189L	AGAP2_ENST00000547588.1_Missense_Mutation_p.R525L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	525	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACCACCCGAGGGGAGGA	0.547													5	358	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71095060	71095060	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71095060C>A	ENST00000283228.2	-	7	1503	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	351					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAATGTTCCCCAAGCTACTC	0.428													5	169	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71898436	71898436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71898436C>A	ENST00000266674.5	+	2	566	c.255C>A	c.(253-255)ccC>ccA	p.P85P	LGR5_ENST00000536515.1_Silent_p.P85P|LGR5_ENST00000540815.2_Silent_p.P85P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	85						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCCGAATCCCCTGCCCAGTC	0.502													8	484	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667052	72667052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:72667052G>T	ENST00000261180.4	+	1	590	c.494G>T	c.(493-495)gGg>gTg	p.G165V	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	165					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTCTCCGGGGAGGTCAAC	0.652													4	78	---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76443026	76443026	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:76443026C>A	ENST00000261182.8	-	14	1580	c.1094G>T	c.(1093-1095)gGg>gTg	p.G365V	NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	365	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCTTCTTCCCCTTCCTATAT	0.343													6	171	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77222206	77222206	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:77222206C>A	ENST00000426126.2	+	10	1726	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	ZDHHC17_ENST00000334822.5_Silent_p.P359P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	359					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GTGCATTGCCCCTTGGGATAT	0.313													9	678	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79837937	79837937	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:79837937C>A	ENST00000261205.4	+	10	1670	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	338	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACACTTAACCCCTACTACAAT	0.363													6	326	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91347703	91347703	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:91347703G>T	ENST00000358859.2	-	1	1250	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		accAGCAGCGGGGCAAGAGAC	0.522													8	587	---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98989599	98989599	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:98989599C>A	ENST00000188376.5	+	2	606	c.252C>A	c.(250-252)ccC>ccA	p.P84P	SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	85					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTGTGGTTCCCCTGGATTTAG	0.408													7	203	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158274	102158274	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102158274G>T	ENST00000299314.7	-	13	2683	c.2421C>A	c.(2419-2421)ccC>ccA	p.P807P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	807					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCAAGTCCAGGGGTGGATTCT	0.458													7	323	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102512208	102512208	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102512208C>A	ENST00000552283.1	-	2	228	c.89G>T	c.(88-90)gGg>gTg	p.G30V	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	30					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCCTGAATCCCCATTCTCAAA	0.408													6	328	---	---	---	---
SART3	9733	broad.mit.edu	37	12	108931915	108931915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108931915G>T	ENST00000228284.3	-	8	1361	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	SART3_ENST00000431469.2_Missense_Mutation_p.P376H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	376					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGTCCAGGGGCAGTTTCT	0.418									Porokeratosis				7	196	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109522779	109522779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:109522779C>A	ENST00000257548.5	+	12	1283	c.1190C>A	c.(1189-1191)cCc>cAc	p.P397H	USP30_ENST00000392784.2_Missense_Mutation_p.P366H	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	397					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAGGGGCCCCCAAAACACAG	0.493													8	546	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110771909	110771909	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:110771909G>T	ENST00000395494.2	+	10	1862	c.1299G>T	c.(1297-1299)aaG>aaT	p.K433N	ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.K460N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	460					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCGAATTGAAGGGTCTTTCTA	0.388													6	359	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111893858	111893858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:111893858G>T	ENST00000377617.3	-	23	3880	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1240					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	p.P1240Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATGTGGGGTGGGTTGGTATA	0.517													6	251	---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112589916	112589916	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112589916C>A	ENST00000257604.5	+	10	2208	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	531					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	p.P531T(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTCTTTCTCCCCTGGGCCTTC	0.547													6	253	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622379	112622379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112622379G>T	ENST00000550722.1	-	61	10348	c.9953C>A	c.(9952-9954)cCc>cAc	p.P3318H	HECTD4_ENST00000430131.2_Missense_Mutation_p.P3042H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTCTGTGCCGGGGAAGGCCAG	0.632													5	55	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113698209	113698209	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:113698209C>A	ENST00000550785.1	+	4	534	c.365C>A	c.(364-366)cCc>cAc	p.P122H	TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000335509.6_Missense_Mutation_p.P50H|TPCN1_ENST00000392569.4_5'UTR	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	50						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCCAGGCCCCCAGTCTCAGC	0.562													4	73	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118693363	118693363	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:118693363C>A	ENST00000392533.3	-	3	500	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	4					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCACCCCTTTACGCATG	0.413													6	379	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120582545	120582545	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:120582545G>T	ENST00000300648.6	-	41	5262	c.5250C>A	c.(5248-5250)ccC>ccA	p.P1750P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1750					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGACATGGGGTGCAATGT	0.512													7	320	---	---	---	---
VPS37B	79720	broad.mit.edu	37	12	123355528	123355528	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123355528G>T	ENST00000267202.2	-	2	573	c.192C>A	c.(190-192)ccC>ccA	p.P64P		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	64	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGTCCAGCTGGGGCTGGTACA	0.453													6	277	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123812310	123812310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123812310C>A	ENST00000420886.2	-	11	1481	c.1482G>T	c.(1480-1482)tgG>tgT	p.W494C	SBNO1_ENST00000602398.1_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	494							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCCTCACCCCATATGCCAA	0.378													5	135	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131487813	131487813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:131487813C>A	ENST00000261654.5	+	10	1669	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	370					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCAGCACGCCCCAGGTCACCG	0.622													5	145	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133233834	133233834	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:133233834G>T	ENST00000320574.5	-	29	3513	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q	POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1157					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACGTGGCACTGGGTTCTTTAC	0.532								DNA polymerases (catalytic subunits)					5	151	---	---	---	---
PSPC1	55269	broad.mit.edu	37	13	20356679	20356679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:20356679C>A	ENST00000338910.4	-	1	378	c.219G>T	c.(217-219)ccG>ccT	p.P73P		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTCTCGCCCGGCTTGAGGA	0.642													4	90	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343													55	127	---	---	---	---
LNX2	222484	broad.mit.edu	37	13	28136686	28136686	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:28136686C>A	ENST00000316334.3	-	5	1217	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	363	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATAAAAACCCCTGGCTCATC	0.522													7	295	---	---	---	---
TEX26	122046	broad.mit.edu	37	13	31531071	31531071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:31531071C>A	ENST00000380473.3	+	4	387	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	125																	AACTGCCTCCCTTGGAAAATC	0.388													5	117	---	---	---	---
KL	9365	broad.mit.edu	37	13	33635044	33635044	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:33635044C>A	ENST00000380099.3	+	4	1836	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	610	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TAACCAGTCCCAGGTGAACCA	0.582													5	182	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543054	46543054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:46543054G>T	ENST00000242848.4	-	14	3973	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1209	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATTGGATGGGGAGCGAAGA	0.498													7	211	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000311191.6	+	9	1376	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408													84	82	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51961586	51961586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:51961586C>A	ENST00000311234.4	-	7	1302	c.830G>T	c.(829-831)gGg>gTg	p.G277V	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	277					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TATAGGAACCCCAGTTTTAGG	0.423													5	182	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52524476	52524476	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52524476C>A	ENST00000242839.4	-	10	2663	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	836					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AAACTTTCCCCCAGGGACCAC	0.547									Wilson disease				4	79	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52548505	52548505	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52548505C>A	ENST00000242839.4	-	2	1007	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	284	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACTTTGAACCCCTAGGAGCTG	0.468									Wilson disease				7	191	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986618	61986618	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:61986618G>T	ENST00000409186.1	-	5	3719	c.1614C>A	c.(1612-1614)ccC>ccA	p.P538P	PCDH20_ENST00000409204.4_Silent_p.P538P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	511	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTATTAAGGGTTGAAGGA	0.423													7	448	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801206	67801206	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:67801206C>A	ENST00000544246.1	-	2	2058	c.1367G>T	c.(1366-1368)aGg>aTg	p.R456M	PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	456	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCTTAACCCTTACCAGGGC	0.423													5	189	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327880	88327880	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88327880C>A	ENST00000325089.6	+	2	456	c.237C>A	c.(235-237)ccC>ccA	p.P79P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	79						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCCTCCCCGTTTCCCAA	0.453													7	450	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.					integral to membrane		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507													75	242	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99554604	99554604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:99554604C>A	ENST00000376460.1	-	12	1398	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	441					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTCTGCCCACTGCCATTC	0.552													4	62	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101257324	101257324	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:101257324G>T	ENST00000342624.5	-	19	2465	c.2207C>A	c.(2206-2208)cCc>cAc	p.P736H	TMTC4_ENST00000376234.3_Missense_Mutation_p.P717H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	717						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGATGCCGTGGGGTCAAGCTG	0.428													6	321	---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114324001	114324001	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:114324001G>T	ENST00000335678.6	+	2	931		c.e2-1			NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1						regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCACTTTTCAGGGTGCTATGG	0.537													6	372	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20864042	20864042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:20864042G>T	ENST00000262715.5	-	11	1766	c.1726C>A	c.(1726-1728)Ctc>Atc	p.L576I	TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	576	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAGCCTCGAGGGCATCAATG	0.468													4	116	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109838	21109838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21109838C>A	ENST00000320704.3	-	1	12	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGTGGTTCCCATCAGGACTC	0.438													6	306	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21967909	21967909	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21967909C>A	ENST00000298717.4	-	7	1493	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	448					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACTACTTACCCCCAGAGATTT	0.378													6	285	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23531693	23531693	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:23531693C>A	ENST00000262710.1	-	15	3424	c.3097G>T	c.(3097-3099)Ggg>Tgg	p.G1033W	ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1033					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTGTGCGCCCCAACAACTCC	0.478													6	388	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24729790	24729790	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:24729790C>A	ENST00000206765.6	-	4	746	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	208					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTGTGGACCCGCAGGTTCAG	0.607													4	157	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26949216	26949216	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:26949216G>T	ENST00000539517.2	-	3	731	c.414C>A	c.(412-414)ccC>ccA	p.P138P	NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000344429.5_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000465357.2_Silent_p.P138P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	141					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CGGTGGTCTGGGGTTGTAGAA	0.408													6	380	---	---	---	---
BNIP3P1	319138	broad.mit.edu	37	14	28733959	28733959	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:28733959C>A	ENST00000550043.1	+	0	364																											TGTGACAGCCCACCTCGCTCA	0.463													6	174	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360791	42360791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:42360791G>T	ENST00000298119.4	+	4	2913	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	575						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAACTAACGGGGCTCAAATA	0.458										HNSCC(30;0.082)			5	135	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51288706	51288706	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:51288706C>A	ENST00000245441.5	-	3	259	c.69G>T	c.(67-69)acG>acT	p.T23T	NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000382041.3_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	23	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCCTGTGCCCGTCGTGTCAA	0.577			T	PDGFRB	MPD								6	371	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510674	55510674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:55510674G>T	ENST00000395472.2	+	2	1247	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D|SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	305	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GAAAACCAGAGGGTACCTTTT	0.428													6	267	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62245576	62245576	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:62245576G>T	ENST00000216294.4	+	7	877	c.773G>T	c.(772-774)aGg>aTg	p.R258M		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	258	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGATGTGAAAGGGCAGAATCA	0.289													5	151	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64518896	64518896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64518896C>A	ENST00000358025.3	+	48	8495	c.8265C>A	c.(8263-8265)ccC>ccA	p.P2755P	SYNE2_ENST00000344113.4_Silent_p.P2755P|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2755					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTCCATTCCCCTTCTCCCAG	0.428													8	408	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64593108	64593108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64593108C>A	ENST00000357395.3	+	73	13917	c.2773C>A	c.(2773-2775)Ctc>Atc	p.L925I	SYNE2_ENST00000344113.4_Missense_Mutation_p.L4540I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4540					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCCTGACCCTCAGTCAGTG	0.423													5	151	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65220429	65220429	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:65220429C>A	ENST00000389722.3	-	32	6481	c.6428G>T	c.(6427-6429)gGg>gTg	p.G2143V	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.G2143V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCTCATCCCCAGTGGATTT	0.647													5	168	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67610144	67610144	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:67610144G>T	ENST00000478722.1	+	18	2935	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000315266.5_Missense_Mutation_p.G572V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	572	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCACATCAGGGGGTGTATCC	0.423			T	MLL	AL								7	269	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256411	69256411	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:69256411G>T	ENST00000439696.2	-	2	1157	c.856C>A	c.(856-858)Cct>Act	p.P286T	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	286					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACATGTGAGGGGACTCGGAC	0.652											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	161	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73730438C>A	ENST00000427855.1	+	20	2911	c.2809C>A	c.(2809-2811)Ccg>Acg	p.P937T	PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	937	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642													4	74	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74876080	74876080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:74876080C>A	ENST00000331628.3	-	2	615	c.368G>T	c.(367-369)gGg>gTg	p.G123V	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G123V	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	123					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCTTGTACCCCATAGGACAC	0.572													6	387	---	---	---	---
GPATCH2L	55668	broad.mit.edu	37	14	76633061	76633061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:76633061G>T	ENST00000261530.7	+	3	784	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CAATGATGAAGGGCGACAAGG	0.433													4	59	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088951	86088951	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:86088951C>A	ENST00000330753.4	+	2	1860	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	365					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCACGACCCCCGGCCTGCC	0.572													5	153	---	---	---	---
KCNK13	56659	broad.mit.edu	37	14	90650658	90650658	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:90650658G>T	ENST00000282146.4	+	2	979	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	180						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAAGGATGCGGGGCAGTGTGA	0.632													6	187	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102831	92102831	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:92102831G>T	ENST00000256343.3	-	17	1836	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	560					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGTTTCCTGGGGTTCGTTCT	0.428													6	207	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	93994952	93994952	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:93994952C>A	ENST00000553484.1	+	9	1166	c.1012C>A	c.(1012-1014)Ccg>Acg	p.P338T	UNC79_ENST00000393151.2_Missense_Mutation_p.P338T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	338						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAAACCACCCCCGTTGTATCT	0.403													5	180	---	---	---	---
SERPINA10	51156	broad.mit.edu	37	14	94756493	94756493	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:94756493C>A	ENST00000554723.1	-	2	976	c.558G>T	c.(556-558)aaG>aaT	p.K186N	SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTGAGTCCCTTAAAGAGGG	0.572													6	185	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95557424	95557424	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:95557424G>T	ENST00000541352.1	-	24	5395	c.5387C>A	c.(5386-5388)cCc>cAc	p.P1796H	DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000526495.1_Silent_p.P1850P|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR	NM_001195573.1	NP_001182502.1	Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0	RNase III 2.				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 myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	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)		CAGGGGAACGGGGTACATTTG	0.303			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				5	138	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418													6	301	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102500413	102500413	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102500413G>T	ENST00000360184.4	+	55	10678	c.10514G>T	c.(10513-10515)gGg>gTg	p.G3505V	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3505					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCATTGCTGGGGACTGTCTC	0.488													8	398	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103601680	103601680	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:103601680C>A	ENST00000560869.1	+	12	2587	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	650					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCTATTTTCCCTTATAAAGGT	0.597													6	354	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409232	105409232	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:105409232G>T	ENST00000333244.5	-	7	12675	c.12556C>A	c.(12556-12558)Cct>Act	p.P4186T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4186						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAGGGGACTGAATG	0.657													9	344	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725471	106725471	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:106725471C>A	ENST00000390609.2	-	0	159																											CCAAGCCTCCCCCAGACTCCA	0.557													6	217	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25444499	25444499	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:25444499G>T	ENST00000424208.1	+	0	1772				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GCTGAAGCGCGGGACCTACCT	0.632													4	79	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28370323	28370323	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:28370323C>A	ENST00000261609.7	-	84	12927	c.12819G>T	c.(12817-12819)tgG>tgT	p.W4273C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4273					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATTGTCGCCCCATGTATAAA	0.522													7	304	---	---	---	---
EMC4	51234	broad.mit.edu	37	15	34520689	34520689	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:34520689G>T	ENST00000267750.4	+	4	531	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		CTATCTCATTGGGAACCTGAT	0.448													7	400	---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37184642	37184642	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:37184642C>A	ENST00000338564.5	-	13	1591	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	MEIS2_ENST00000561208.1_Missense_Mutation_p.G389V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	389					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G389V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AACGTAGTCCCCTGGCATGCT	0.433													7	404	---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192388	41192388	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:41192388C>A	ENST00000220509.5	+	4	1711	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	458					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGATTGCCCTCAAGTTCCT	0.617													5	163	---	---	---	---
CKMT1B	1159	broad.mit.edu	37	15	43891443	43891443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:43891443C>A	ENST00000300283.6	+	10	1618	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	CKMT1B_ENST00000441322.1_Missense_Mutation_p.P409H	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	409					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATCCGCATCCCCACACCTGTC	0.502													5	159	---	---	---	---
CASC4	113201	broad.mit.edu	37	15	44671971	44671971	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:44671971C>A	ENST00000299957.6	+	7	1185	c.886C>A	c.(886-888)Cca>Aca	p.P296T	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.P296T	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	296						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACCTCTCTCCCCAAATATGCC	0.353													6	294	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50534614	50534614	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:50534614C>A	ENST00000267845.3	-	12	2234	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	HDC_ENST00000543581.1_Missense_Mutation_p.R578M	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	611					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GATTCTGACCCTGGAGGAGCC	0.502													7	395	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51763506	51763506	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:51763506G>T	ENST00000251076.5	-	29	7590	c.7303C>A	c.(7303-7305)Cca>Aca	p.P2435T	DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2435						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCGGTGGTGGGGTAGCATCT	0.433													7	426	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52675337	52675337	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:52675337G>T	ENST00000399231.3	-	16	2206	c.1963C>A	c.(1963-1965)Cct>Act	p.P655T	MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	655	Actin-binding (Potential).|Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACATAGTGAGGGGTAGTGGCA	0.438													7	293	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081150	53081150	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:53081150G>T	ENST00000305901.5	-	1	1059	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	311					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGCCTGTGGGATGCTGTA	0.602													4	133	---	---	---	---
DYX1C1	161582	broad.mit.edu	37	15	55742473	55742473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:55742473G>T	ENST00000321149.3	-	6	1097	c.730C>A	c.(730-732)Cct>Act	p.P244T	DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	244					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATACTCGAGGGGTAAAGTTG	0.363													5	162	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498													7	547	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59180632	59180632	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59180632C>A	ENST00000380516.2	-	17	2414	c.2327G>T	c.(2326-2328)aGg>aTg	p.R776M	SLTM_ENST00000536328.1_Missense_Mutation_p.R345M	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	776	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAACCTGCCCCTCTCTCGGTG	0.388													6	228	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59510201	59510201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59510201C>A	ENST00000288235.4	-	10	1395	c.996G>T	c.(994-996)tgG>tgT	p.W332C		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	332	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATTTGCCTCCCCACTTGCTAT	0.517													6	269	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238017	69238017	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:69238017C>A	ENST00000310673.3	+	2	298	c.144C>A	c.(142-144)ccC>ccA	p.P48P	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	48					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGTGTTCCCTCTGGGGAGC	0.373													7	227	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70358460	70358460	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:70358460G>T	ENST00000558939.1	-	7	1847	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	157	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCACTGGGGGGATTCCTGG	0.667													4	47	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72553902	72553902	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:72553902G>T	ENST00000569795.1	-	9	1229	c.542C>A	c.(541-543)cCc>cAc	p.P181H	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000287196.9_Missense_Mutation_p.P181H			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	181							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACTTACTTGGGGATGGGTGA	0.488													6	386	---	---	---	---
C15orf59	388135	broad.mit.edu	37	15	74043425	74043425	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74043425G>T	ENST00000569673.1	-	2	1251	c.47C>A	c.(46-48)cCc>cAc	p.P16H	C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	16										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACTGCTGGGGTCGTCACT	0.652													5	106	---	---	---	---
PML	5371	broad.mit.edu	37	15	74328275	74328275	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74328275C>A	ENST00000268059.6	+	8	2569	c.2473C>A	c.(2473-2475)Cgt>Agt	p.R825S	PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCAGGCGCCCGTCAAGCAGG	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""								7	424	---	---	---	---
EDC3	80153	broad.mit.edu	37	15	74948192	74948192	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74948192C>A	ENST00000315127.4	-	4	883	c.702G>T	c.(700-702)cgG>cgT	p.R234R	EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	234	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGGGATGCCCCGGGAACGGG	0.498													5	185	---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83698965	83698965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83698965C>A	ENST00000261721.4	-	5	1180	c.978G>T	c.(976-978)agG>agT	p.R326S	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	326						cytoplasmic mRNA processing body|protein complex	protein binding	p.R326R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTCCTTTCCCCTGAGACAGC	0.453													9	613	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83781633	83781633	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83781633C>A	ENST00000322019.9	+	2	451	c.177C>A	c.(175-177)ccC>ccA	p.P59P	TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000379386.4_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	59			P -> S (in dbSNP:rs1989).			integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAAACCACCCCGGGACCCAC	0.483													7	174	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84373226	84373226	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:84373226G>T	ENST00000286744.5	+	3	379	c.155G>T	c.(154-156)gGg>gTg	p.G52V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACACAACAGGGGAGCAGTTC	0.468													10	425	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86278321	86278321	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:86278321C>A	ENST00000394518.2	+	31	7476	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2461	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCGTTTCCCTGCCCCGGAG	0.507													6	365	---	---	---	---
ABHD2	11057	broad.mit.edu	37	15	89719095	89719095	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:89719095C>A	ENST00000352732.5	+	6	1111	c.591C>A	c.(589-591)ccC>ccA	p.P197P	ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	197						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGACATATCCCCTGACCCAGC	0.522													5	164	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91169054	91169054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91169054G>T	ENST00000420329.2	+	10	943	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.G266W	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	266					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCTTGGGGACCTTGAA	0.488			T	MAML2	salivary gland mucoepidermoid								10	609	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91172673	91172673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91172673C>A	ENST00000420329.2	+	11	1322	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P392H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	392					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCGTCAGCCCTCTCACGCTT	0.582			T	MAML2	salivary gland mucoepidermoid								6	330	---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981724	92981724	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:92981724C>A	ENST00000268164.3	+	4	669	c.432C>A	c.(430-432)ccC>ccA	p.P144P	ST8SIA2_ENST00000539113.1_Silent_p.P123P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	144					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTCCTCCCCAGGACTTCGC	0.537													5	248	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99672871	99672871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:99672871C>A	ENST00000336292.6	+	5	4423	c.4303C>A	c.(4303-4305)Cct>Act	p.P1435T	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1436	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCGGACTCCCCTGAGCTAGG	0.512													7	371	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100594132	100594132	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:100594132C>A	ENST00000268070.4	-	16	2370	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	755	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGTTGGTCCCTTGGCAGAGA	0.532													8	487	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	812728	812728	+	Silent	SNP	C	C	A	rs138683708		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:812728C>A	ENST00000566549.1	+	2	465	c.48C>A	c.(46-48)ccC>ccA	p.P16P	MSLN_ENST00000382862.3_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P			Q13421	MSLN_HUMAN	mesothelin	16				TPAL -> DRP (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGGACCCCCGCCCTCGGCA	0.692													5	290	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1825078	1825078	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:1825078C>A	ENST00000307394.7	+	4	514	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	EME2_ENST00000568449.1_Missense_Mutation_p.P172T			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CTGGATCTCCCCCGAGACCAC	0.657								Direct reversal of damage;Homologous recombination					6	290	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819215	2819215	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819215C>A	ENST00000301740.8	+	12	8500	c.7951C>A	c.(7951-7953)Cct>Act	p.P2651T	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2651	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctccccttccCCTGCTAAGCC	0.587													6	304	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819272	2819272	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819272C>A	ENST00000301740.8	+	12	8557	c.8008C>A	c.(8008-8010)Cct>Act	p.P2670T	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2670	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCACCCCCTGGCGAGCG	0.637													6	309	---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254942	3254942	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:3254942G>T	ENST00000304646.2	+	1	696	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCACAAAGGGAAGGTGGA	0.512													8	306	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4714730	4714730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:4714730G>T	ENST00000399577.5	+	6	675	c.582G>T	c.(580-582)cgG>cgT	p.R194R	MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000588994.1_Silent_p.R194R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	194					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGGACCGGGGCGTGTTTC	0.597													5	164	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14234515	14234515	+	Missense_Mutation	SNP	C	C	A	rs139420323		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14234515C>A	ENST00000571589.1	+	3	224	c.52C>A	c.(52-54)Cat>Aat	p.H18N	MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.H18N	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCTTTAGCCCATCTTGCTCC	0.507													5	179	---	---	---	---
LOC100129781	100129781	broad.mit.edu	37	16	14397848	14397848	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14397848G>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							GGGGTTTTGAGGGCGAGATGA	0.577													7	333	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15719561	15719561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:15719561C>A	ENST00000396368.3	-	8	1827	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	540						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGCACTTTCCCACCACAATTA	0.483													7	242	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18844357	18844357	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:18844357G>T	ENST00000446231.2	-	51	9109	c.8697C>A	c.(8695-8697)ccC>ccA	p.P2899P	SMG1_ENST00000389467.3_Silent_p.P2899P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2899			P -> A.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGTCTGCAGGGGAACGCCAT	0.468													10	501	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20448426	20448426	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20448426G>T	ENST00000331849.4	+	11	1508	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACATCACAGGGGACCGAGCT	0.488													8	327	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20803376	20803376	+	Missense_Mutation	SNP	G	G	T	rs140665877	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20803376G>T	ENST00000289416.5	+	11	1854	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	460					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.G460V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TATATCACTGGGGACAGAGGA	0.373													7	378	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21147786	21147786	+	Missense_Mutation	SNP	G	G	T	rs140282790		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21147786G>T	ENST00000261383.3	-	6	744	c.745C>A	c.(745-747)Cct>Act	p.P249T	DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	249	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCCTCAGGGGCAATCATG	0.478													7	351	---	---	---	---
PDZD9	255762	broad.mit.edu	37	16	21995621	21995621	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21995621C>A	ENST00000286143.6	-	5	897	c.576G>T	c.(574-576)gaG>gaT	p.E192D	PDZD9_ENST00000424898.2_Missense_Mutation_p.E254D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	254										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GGGCTTTACCCTCTTCAACTT	0.453													14	1392	---	---	---	---
GGA2	23062	broad.mit.edu	37	16	23498080	23498080	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:23498080G>T	ENST00000309859.4	-	7	693	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	204	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.P204H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGGTCCTCGGGGTGGTTGCT	0.507													8	544	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24104145	24104145	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:24104145C>A	ENST00000303531.7	+	6	715	c.563C>A	c.(562-564)cCc>cAc	p.P188H	PRKCB_ENST00000321728.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	188	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCTATGGACCCCAATGGCCTG	0.423													6	350	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25258052	25258052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:25258052G>T	ENST00000328086.7	-	5	2268	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	489					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AACAAGACAGGGGCACCATGG	0.443													7	396	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28602973	28602973	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28602973C>A	ENST00000317058.3	+	10	1015	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	276	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ATTCCCCTCCCCTCAATGTGG	0.582													7	210	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734623	28734623	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28734623G>T	ENST00000331666.6	+	9	1101	c.915G>T	c.(913-915)cgG>cgT	p.R305R	EIF3C_ENST00000566866.1_Silent_p.R305R|EIF3C_ENST00000564243.1_Silent_p.R295R|EIF3C_ENST00000395587.1_Silent_p.R305R|EIF3C_ENST00000566501.1_Silent_p.R305R			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						AAAGGGTCCGGGGCGGAGTGC	0.537													14	1271	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28965930	28965930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28965930C>A	ENST00000320805.4	+	3	580	c.505C>A	c.(505-507)Cca>Aca	p.P169T	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	169						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TGAGGGCTCCCCATCACCAGG	0.562													6	367	---	---	---	---
CORO1A	11151	broad.mit.edu	37	16	30197992	30197992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30197992C>A	ENST00000219150.5	+	3	577	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	91					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCTGGTGCCCGCACAATGAC	0.617													3	39	---	---	---	---
ZNF688	146542	broad.mit.edu	37	16	30581354	30581354	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30581354C>A	ENST00000223459.6	-	3	1818	c.714G>T	c.(712-714)ggG>ggT	p.G238G	ZNF688_ENST00000395219.1_Silent_p.G224G	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGCCGCCCCCCGGAGCAGG	0.706													4	32	---	---	---	---
ZNF629	23361	broad.mit.edu	37	16	30793264	30793264	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30793264G>T	ENST00000262525.4	-	3	2592	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	795					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGGATTGGGGGGTTTTTCCT	0.662													9	296	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072440	31072440	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31072440G>T	ENST00000538906.1	-	3	2593	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	ZNF668_ENST00000426488.2_Silent_p.P626P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCTCCAGGGGTGTGGGGG	0.672													5	153	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31373412	31373412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31373412G>T	ENST00000268296.4	+	11	1224	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	368					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCGTTCTGGGGGCTGTGGGG	0.582													7	333	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46638210	46638210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46638210C>A	ENST00000303383.3	-	6	1119	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	285										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AATTTTAACCCTTCCACCATG	0.363													6	323	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46649932	46649932	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46649932G>T	ENST00000303383.3	-	4	788	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	174										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GCTCCTGCAGGGGCAACCGAT	0.483													6	240	---	---	---	---
PAPD5	64282	broad.mit.edu	37	16	50250028	50250028	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:50250028C>A	ENST00000357464.3	+	5	570	c.570C>A	c.(568-570)ccC>ccA	p.P190P	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Silent_p.P202P|PAPD5_ENST00000436909.3_Silent_p.P269P			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	190					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAACCTACCCCTCTGGACTC	0.438													5	186	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174722	51174722	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:51174722G>T	ENST00000440970.1	-	2	1551	c.1120C>A	c.(1120-1122)Cat>Aat	p.H374N	SALL1_ENST00000251020.4_Missense_Mutation_p.H471N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	471	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTCCGGTATGGGAACGCAAG	0.512													4	116	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81942029	81942029	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:81942029C>A	ENST00000359376.3	+	17	1780	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	522					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGGATATACCCCCTACAGAAC	0.542													4	87	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87451234	87451234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:87451234C>A	ENST00000268616.4	-	8	1021	c.804G>T	c.(802-804)gcG>gcT	p.A268A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	268					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGAGCCCGCGCTGCCCG	0.682													4	174	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	641201	641201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:641201C>A	ENST00000308278.8	+	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	108	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGCGCCCTCCCTCACTCTTCG	0.507													6	259	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	644626	644626	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:644626C>A	ENST00000308278.8	+	5	826	c.590C>A	c.(589-591)cCc>cAc	p.P197H	FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	197	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTTCTCTTCCCCTTCATGTAC	0.542													5	139	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996055	2996055	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:2996055G>T	ENST00000331459.1	-	1	235	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	79					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGCATCTTGGGGATTGTGTT	0.547													6	269	---	---	---	---
OR1E2	8388	broad.mit.edu	37	17	3336249	3336249	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3336249G>T	ENST00000248384.1	-	1	886	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	296					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GTAGATGAAGGGGGTCAGCAT	0.453													6	165	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3937384	3937384	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3937384C>A	ENST00000381638.2	-	40	6633	c.6509G>T	c.(6508-6510)gGg>gTg	p.G2170V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2170							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAACTGTCCCCTGCAGCAAA	0.542													7	372	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5040480	5040480	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5040480G>T	ENST00000574788.1	+	19	3054	c.824G>T	c.(823-825)gGg>gTg	p.G275V	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	275	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGATTGACGGGGTAAGGAGG	0.642			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	107	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5437289	5437289	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5437289G>T	ENST00000345221.3	-	9	3534	c.2980C>A	c.(2980-2982)Cct>Act	p.P994T	NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000572272.1_Missense_Mutation_p.P994T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	994					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCTCAGTAGGGGTCATCACA	0.498													8	436	---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6331819	6331819	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:6331819C>A	ENST00000381129.3	-	3	364	c.284G>T	c.(283-285)gGg>gTg	p.G95V	AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	95	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGGTAGACCCCCGTGTGCTG	0.637													6	91	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7106238	7106238	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7106238G>T	ENST00000399510.2	-	10	1752	c.900C>A	c.(898-900)ccC>ccA	p.P300P	DLG4_ENST00000399506.2_Silent_p.P257P|DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	257					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGATGTCTGGGGGAGCATAGC	0.527													5	87	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7139749	7139749	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7139749G>T	ENST00000320316.3	-	4	723	c.497C>A	c.(496-498)cCc>cAc	p.P166H	PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	166							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AAGGGGCACGGGGGTAAGAGC	0.602													6	120	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7192148	7192148	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7192148G>T	ENST00000007699.5	-	8	1117	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	352	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CTGTTGACAGGGGCTGAGGTC	0.532													4	78	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852466	7852466	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7852466C>A	ENST00000380262.3	+	18	3568	c.2643C>A	c.(2641-2643)ccC>ccA	p.P881P	CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P859P	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	859	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GTGAGATCCCCCGGAAAGAGG	0.572													6	87	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11757555	11757555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:11757555C>A	ENST00000262442.4	+	50	9811	c.9743C>A	c.(9742-9744)cCc>cAc	p.P3248H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCAAGACCCCGAGTTCAAT	0.483													6	314	---	---	---	---
TOM1L2	146691	broad.mit.edu	37	17	17797015	17797015	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:17797015G>T	ENST00000379504.3	-	4	409	c.326C>A	c.(325-327)cCt>cAt	p.P109H	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	109	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AATGGTGGGAGGGTTGTTCTT	0.468													6	199	---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18238892	18238892	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:18238892G>T	ENST00000316694.3	-	8	1046	c.912C>A	c.(910-912)ccC>ccA	p.P304P	SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	304					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGTTGTGGGGACCTCCCT	0.517													7	392	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19235220	19235220	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:19235220C>A	ENST00000314728.5	+	10	1950	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	489	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGCCCTGACCCCTTTGAGTCT	0.582													7	240	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20107684	20107684	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:20107684C>A	ENST00000395530.2	+	2	287	c.79C>A	c.(79-81)Cca>Aca	p.P27T	SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.P108T	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	108						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CATTCCAGCCCCACGGGAATT	0.443													8	423	---	---	---	---
PROCA1	147011	broad.mit.edu	37	17	27030734	27030734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27030734C>A	ENST00000301039.2	-	4	1046	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000581289.1_3'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	313					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTCCCTGCCCCCGGCCATTG	0.572													7	212	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27043922	27043922	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27043922C>A	ENST00000395245.3	-	2	771	c.145G>T	c.(145-147)Gga>Tga	p.G49*	RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTAACTCACCCCACGGTGCCT	0.602													5	123	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958281	27958281	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27958281G>T	ENST00000269033.3	-	15	4001	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1284					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGAGATGAGGGGATTCACAG	0.542													7	166	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959328	27959328	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27959328C>A	ENST00000269033.3	-	15	2954	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G962W	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	935					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTATTTCCCTTTGCCTTTG	0.512													6	291	---	---	---	---
C17orf66	256957	broad.mit.edu	37	17	34191783	34191783	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:34191783G>T	ENST00000311880.2	-	4	580	c.432C>A	c.(430-432)ccC>ccA	p.P144P	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	144							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCACTTCAGGGGGTCCTGGG	0.542													5	141	---	---	---	---
LOC101929950	101929950	broad.mit.edu	37	17	36375117	36375117	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36375117G>T	ENST00000312412.4	-	3	400	c.401C>A	c.(400-402)cCt>cAt	p.P134H	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						CAGAGTACTAGGGAAAGACAA	0.343													4	110	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36485335	36485335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36485335G>T	ENST00000342292.4	-	11	4137	c.4117C>A	c.(4117-4119)Cct>Act	p.P1373T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1373						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGATGTCAGGGGTATGAGCT	0.597													6	182	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566496	37566496	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566496G>T	ENST00000300651.6	-	17	2201	c.1978C>A	c.(1978-1980)Ctt>Att	p.L660I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	660	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTCCATAAAGGGTTGAGAAA	0.512										HNSCC(31;0.082)			6	250	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566851	37566851	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566851G>T	ENST00000300651.6	-	17	1846	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	MED1_ENST00000394287.3_Silent_p.P541P	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	541	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCTAGCCGGGGGCAGGTTCT	0.547										HNSCC(31;0.082)			5	174	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686895	37686895	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37686895C>A	ENST00000447079.4	+	14	3832	c.3799C>A	c.(3799-3801)Cct>Act	p.P1267T	CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1267	Poly-Pro.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAGAGGCCCCCTGAGCCCCC	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	387	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38348923	38348923	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38348923C>A	ENST00000436615.3	+	12	1594	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000456989.2_Silent_p.P423P	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	574					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTGATTCCCTTCGTGCCTC	0.532													7	373	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38420795	38420795	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38420795C>A	ENST00000323571.4	+	5	607	c.367C>A	c.(367-369)Cca>Aca	p.P123T	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	123						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCTGCTGCCCCAAGGCCTCC	0.567										HNSCC(43;0.11)			6	158	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38643289	38643289	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38643289C>A	ENST00000254051.6	-	4	1445	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACGACGTACCCTCTGGGCATG	0.507													8	723	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859679	38859679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38859679C>A	ENST00000264651.2	-	1	323	c.267G>T	c.(265-267)ggG>ggT	p.G89G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	89	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCTAGAACCCCCACCAAATC	0.567													5	119	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328132	40328132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40328132G>T	ENST00000264661.3	-	5	1101	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	257					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGTGATGGGGGTGTCATCG	0.592													7	197	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40474448	40474448	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome				98	239	---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40690429	40690429	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40690429G>T	ENST00000225927.2	+	3	705	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	202						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCCTGGGGGCGAATGGG	0.587													6	262	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843875	40843875	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40843875C>A	ENST00000264638.4	+	16	2613	c.2396C>A	c.(2395-2397)cCc>cAc	p.P799H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	799					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACGCTTCCCCCCAATCCGT	0.562													9	615	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476068	42476068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:42476068G>T	ENST00000434000.1	-	9	3425	c.3143C>A	c.(3142-3144)cCc>cAc	p.P1048H	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1126H			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1126						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACCTTGTGGGGGGTCCTTGAG	0.547													5	175	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248976	44248976	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:44248976C>A	ENST00000262419.6	-	2	1004	c.534G>T	c.(532-534)ggG>ggT	p.G178G	KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G178G	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	178						MLL1 complex	protein binding										CCCGTTTTCCCCCATTGAGGG	0.478													7	337	---	---	---	---
SCRN2	90507	broad.mit.edu	37	17	45915953	45915953	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:45915953G>T	ENST00000407215.3	-	6	963	c.882C>A	c.(880-882)ccC>ccA	p.P294P	SCRN2_ENST00000290216.9_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P			Q96FV2	SCRN2_HUMAN	secernin 2	294					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGGGATCCTGGGGCAGGACAG	0.607													5	144	---	---	---	---
SNX11	29916	broad.mit.edu	37	17	46198732	46198732	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46198732C>A	ENST00000393405.2	+	8	1029	c.675C>A	c.(673-675)ccC>ccA	p.P225P	SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P|SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	225					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTCTCCCACCCCTCTCCTCAC	0.532													7	297	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608169	46608169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46608169G>T	ENST00000239174.6	-	1	190	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	33						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGAGCTTGGGGGAAAGGA	0.622													5	168	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGCCACCATCGTGAGCCTTC	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						45	122	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49057226	49057226	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:49057226C>A	ENST00000262013.7	-	26	3498	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L	SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1097					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATCCCCCACCCACGCAAGCTG	0.473													4	155	---	---	---	---
C17orf67	339210	broad.mit.edu	37	17	54892322	54892322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:54892322G>T	ENST00000397861.2	-	6	1343	c.64C>A	c.(64-66)Ccg>Acg	p.P22T	C17orf67_ENST00000575658.1_Missense_Mutation_p.P46T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	46						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GTCAAAATCGGGGAGGTCTCT	0.522													8	545	---	---	---	---
CACNG5	27091	broad.mit.edu	37	17	64873579	64873579	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:64873579C>A	ENST00000533854.1	+	2	366	c.129C>A	c.(127-129)ccC>ccA	p.P43P	CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	43					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGATTGTGCCCCAGAACCAGA	0.622													4	95	---	---	---	---
COG1	9382	broad.mit.edu	37	17	71197345	71197345	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:71197345C>A	ENST00000299886.4	+	7	1459	c.1379C>A	c.(1378-1380)cCt>cAt	p.P460H		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	460					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AGCAACTCCCCTTCAAATAAG	0.507													6	296	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72285780	72285780	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:72285780C>A	ENST00000579490.1	+	4	821	c.686C>A	c.(685-687)cCc>cAc	p.P229H	DNAI2_ENST00000311014.6_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	172					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTGGCACCCCGATGGCAAC	0.582									Kartagener syndrome				4	69	---	---	---	---
NUP85	79902	broad.mit.edu	37	17	73204669	73204669	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:73204669G>T	ENST00000245544.4	+	2	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	27					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTTTGACTGGGGTCCAGGGG	0.363													7	583	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76993250	76993250	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:76993250C>A	ENST00000302345.2	-	2	949	c.455G>T	c.(454-456)gGg>gTg	p.G152V	CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	152					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCCAGGACCCCATGGTCTTT	0.567			T	ETV4	prostate								7	403	---	---	---	---
GAA	2548	broad.mit.edu	37	17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	rs145866792	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACGGCCGCGTGCTGTGAGT	0.662													22	36	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78796034	78796034	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78796034C>A	ENST00000306801.3	+	8	1286	c.924C>A	c.(922-924)ccC>ccA	p.P308P	RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	308					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAGGACGCCCCTGGGTGAAC	0.622													11	417	---	---	---	---
TSPAN10	83882	broad.mit.edu	37	17	79612297	79612297	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:79612297G>T	ENST00000328585.4	+	0	406				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCTGTCAAGGGGTCTCTGGG	0.667													5	116	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2925282	2925282	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:2925282G>T	ENST00000261596.4	-	14	2116	c.1878C>A	c.(1876-1878)ccC>ccA	p.P626P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	626					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGTGGCTCAGGGGCTCTGTGG	0.537													5	171	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3129449	3129449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:3129449C>A	ENST00000400569.3	-	18	2908	c.2575G>T	c.(2575-2577)Ggg>Tgg	p.G859W	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Missense_Mutation_p.G859W			P52179	MYOM1_HUMAN	myomesin 1	859						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCACGCGCCCCCTGGAGGCG	0.557											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	185	---	---	---	---
SOGA2	23255	broad.mit.edu	37	18	8819031	8819031	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:8819031C>A	ENST00000359865.3	+	13	3072	c.2930C>A	c.(2929-2931)cCc>cAc	p.P977H	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1296H|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1287																	AACGTTCGCCCCTTTCCCCAC	0.527													6	152	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25565614	25565614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:25565614G>T	ENST00000269141.3	-	12	2276	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	618	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTGAATTGGGGTCTGGAGT	0.388													6	208	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32438306	32438306	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:32438306C>A	ENST00000283365.9	+	15	1689	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399113.3_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	503	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTTCTCAGCCCACGCCAGAGA	0.517													4	75	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566869	45566869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:45566869G>T	ENST00000588982.1	-	3	1111	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	204						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGTCCCTGGGGGTGTCTGAA	0.567													5	169	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284729	46284729	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:46284729C>A	ENST00000256413.3	+	8	1319	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	342					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAAAATTACCCTGCTCCAGTC	0.537													8	495	---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51690931	51690931	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:51690931G>T	ENST00000256429.3	-	5	1299	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	357					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTTTGCAGAGGGGTTGAGATG	0.438													7	165	---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038857	58038857	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:58038857C>A	ENST00000299766.3	-	1	1144	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	242					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAATCGCTCCCTTCATATTGG	0.502													6	106	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61223488	61223488	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:61223488C>A	ENST00000382768.1	+	1	96	c.96C>A	c.(94-96)ccC>ccA	p.P32P	SERPINB12_ENST00000269491.1_Silent_p.P32P			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	32					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTCTCTCCCCTGAGCCTCT	0.438													8	470	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894468	77894468	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:77894468C>A	ENST00000262198.4	+	4	1627	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	391	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGTGTCCTCCCCATAAATCAG	0.542													6	206	---	---	---	---
CDC34	997	broad.mit.edu	37	19	537038	537038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:537038C>A	ENST00000215574.4	+	4	606	c.388C>A	c.(388-390)Ctc>Atc	p.L130I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	130					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGATCTCCCTCCTGAACGA	0.627													4	91	---	---	---	---
TICAM1	148022	broad.mit.edu	37	19	4816548	4816548	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:4816548G>T	ENST00000248244.5	-	2	2071	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	614	Pro-rich.|Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCTCCCAGGGGCACCTGGC	0.701													4	34	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5218485	5218485	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:5218485G>T	ENST00000372412.4	-	25	4230	c.3997C>A	c.(3997-3999)Cct>Act	p.P1333T	PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1332T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1332					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGTGGTGAGGGGCGAGGTCG	0.537													8	493	---	---	---	---
ZNF358	140467	broad.mit.edu	37	19	7584157	7584157	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7584157C>A	ENST00000597229.1	+	2	199	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	10					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GTCAGGAACCCAGGCCACAAA	0.582													5	168	---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987016	7987016	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7987016C>A	ENST00000597584.1	+	0	391				SNAPC2_ENST00000221573.6_Missense_Mutation_p.P157T|SNAPC2_ENST00000595035.1_3'UTR			Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa						snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAGCGCCCCTGGAGGACA	0.662													6	190	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8152723	8152723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8152723C>A	ENST00000600128.1	-	53	7019	c.6605G>T	c.(6604-6606)gGg>gTg	p.G2202V	FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V			Q75N90	FBN3_HUMAN	fibrillin 3	2202	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						aCACATGGCCCCATCCTCCCG	0.562													5	168	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582													8	17	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065764	9065764	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9065764G>T	ENST00000397910.4	-	3	21885	c.21682C>A	c.(21682-21684)Cct>Act	p.P7228T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7230	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAGTGAGGGGTTGATATG	0.483													7	369	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071802	9071802	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9071802G>T	ENST00000397910.4	-	3	15847	c.15644C>A	c.(15643-15645)cCc>cAc	p.P5215H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5217	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACCAGTGGGGACTTTGGA	0.483													6	318	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10260302	10260302	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10260302C>A	ENST00000340748.4	-	25	2600	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	789	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AACATCTGCCCGTTGCTGCTG	0.582													6	306	---	---	---	---
ZGLP1	100125288	broad.mit.edu	37	19	10418870	10418870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10418870G>T	ENST00000403903.3	-	1	1686	c.488C>A	c.(487-489)cCc>cAc	p.P163H	ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	163					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CCTGTACGTGGGGATGATCTG	0.632													5	168	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10799884	10799884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10799884C>A	ENST00000449870.1	+	20	2910	c.2593C>A	c.(2593-2595)Ccg>Acg	p.P865T	ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.P861T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	861	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTACAACTCCCCGGGGTCCGG	0.612													7	272	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10935779	10935779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10935779C>A	ENST00000314646.5	+	18	2104	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000355667.6_Missense_Mutation_p.P647H			P50570	DYN2_HUMAN	dynamin 2	647					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCATGGACCCCCAACTGGAG	0.602			"""F, N, Splice, Mis, O"""		ETP ALL								5	108	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12088995	12088995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:12088995C>A	ENST00000343949.5	+	4	420	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q86K|ZNF763_ENST00000591944.1_3'UTR	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AACTTTTACCCAGGTTCCAGA	0.398													6	277	---	---	---	---
OR7A5	26659	broad.mit.edu	37	19	14938133	14938133	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:14938133C>A	ENST00000322301.3	-	2	1008	c.921G>T	c.(919-921)tgG>tgT	p.W307C	OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCATTGTTCCCCACAACAAAT	0.433													6	230	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16973789	16973789	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:16973789G>T	ENST00000379803.1	+	10	1375	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V	SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	454	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATAGTGcaggggtcagcaaa	0.493													8	290	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17394162	17394162	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17394162C>A	ENST00000394458.3	+	5	865	c.589C>A	c.(589-591)Ctt>Att	p.L197I	ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	197						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCCTGTTCCCCTTGAAACTGT	0.597													5	214	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17648257	17648257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17648257C>A	ENST00000335393.4	+	6	731	c.593C>A	c.(592-594)cCc>cAc	p.P198H	FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	198										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						CTGCAGCACCCCTTCCGCCGG	0.617													5	159	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17943457	17943457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17943457G>T	ENST00000458235.1	-	19	2650	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	JAK3_ENST00000534444.1_Missense_Mutation_p.L851M|JAK3_ENST00000527670.1_Missense_Mutation_p.L851M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	851	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACGGCCACCAGGGCACCTGTA	0.587		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	140	---	---	---	---
SLC25A42	284439	broad.mit.edu	37	19	19218792	19218792	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19218792G>T	ENST00000318596.7	+	7	738	c.587G>T	c.(586-588)gGg>gTg	p.G196V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	196					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACCGTGCTGGGGGTCATTCCC	0.547													5	155	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19337519	19337519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19337519C>A	ENST00000252575.6	+	7	1396	c.1297C>A	c.(1297-1299)Cct>Act	p.P433T		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGCCCTACCCCTGGGGACCC	0.622													4	49	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30476158	30476158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30476158C>A	ENST00000542441.2	+	3	478	c.181C>A	c.(181-183)Ctt>Att	p.L61I	URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.L21I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	61					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CTATAATGCCCTTCGAGAAAG	0.274													9	391	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30477259	30477259	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30477259G>T	ENST00000392271.1	+	4	599	c.74G>T	c.(73-75)gGg>gTg	p.G25V	URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000542441.2_Missense_Mutation_p.G101V|URI1_ENST00000312051.6_Missense_Mutation_p.G61V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	101					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GTTTTACTGGGGGACAACTGG	0.398													7	276	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769507	31769507	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:31769507G>T	ENST00000240587.4	-	2	1519	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	398					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTCCTGCAGGGTGTCATGC	0.572													6	228	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33113352	33113352	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33113352G>T	ENST00000306065.4	-	18	1961	c.1803C>A	c.(1801-1803)ccC>ccA	p.P601P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	601					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CACACTTGAGGGGCGTCTCCT	0.527													8	514	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33424468	33424468	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33424468G>T	ENST00000305768.5	-	8	863	c.775C>A	c.(775-777)Ctt>Att	p.L259I	CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTAGTTCAAGGGTAAGGCTT	0.358													8	382	---	---	---	---
RHPN2	85415	broad.mit.edu	37	19	33535271	33535271	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33535271C>A	ENST00000254260.3	-	2	105		c.e2-1		RHPN2_ENST00000400226.4_Splice_Site	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2						signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GATTACAGCCCTGAGGAAAAA	0.428													6	124	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34832949	34832949	+	Missense_Mutation	SNP	C	C	A	rs142267455		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:34832949C>A	ENST00000299505.6	+	10	2983	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	704										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACGGGCACCCCAGGCTGGGGC	0.612													6	106	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35231965	35231965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35231965C>A	ENST00000392232.3	+	6	979	c.811C>A	c.(811-813)Ctt>Att	p.L271I	ZNF181_ENST00000492450.1_Missense_Mutation_p.L227I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTCTTACCCTTCCCCAGAC	0.393													7	366	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35749931	35749931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35749931G>T	ENST00000602122.1	+	3	1169	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.G228W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	228	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACCTCCAGGGGAACAATGA	0.592													5	113	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36210766	36210766	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36210766C>A	ENST00000222270.7	+	3	517	c.517C>A	c.(517-519)Ccc>Acc	p.P173T	KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GGCTCCTACCCCCCCAAAGAC	0.632													6	138	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36216191	36216191	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36216191C>A	ENST00000222270.7	+	11	3599	c.3599C>A	c.(3598-3600)cCc>cAc	p.P1200H	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCAGGGGGCCCCCCGATGGTG	0.597													4	50	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677768	37677768	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:37677768G>T	ENST00000532828.2	-	5	922	c.671C>A	c.(670-672)cCt>cAt	p.P224H	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTTATAAGGGAAACCTTT	0.393													6	237	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38858158	38858158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38858158C>A	ENST00000409235.3	+	24	2895	c.2780C>A	c.(2779-2781)cCc>cAc	p.P927H	CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	927					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTTTTCTACCCCTTCTTCTTG	0.552													11	976	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38881008	38881008	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38881008G>T	ENST00000338502.4	+	1	169	c.66G>T	c.(64-66)ggG>ggT	p.G22G	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G22G	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	22	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCTGTGGGGGGCGGGGGCC	0.716													4	45	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39039027	39039027	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:39039027C>A	ENST00000355481.4	+	88	12365	c.12234C>A	c.(12232-12234)ccC>ccA	p.P4078P	RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000359596.3_Silent_p.P4083P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4083					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TAACGGATCCCCGTGGCCTCA	0.552													5	189	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40880402	40880402	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:40880402C>A	ENST00000409587.1	+	10	1291	c.894C>A	c.(892-894)ccC>ccA	p.P298P	PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	298					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CGCCCCCACCCCTGTGTCCAA	0.597													5	151	---	---	---	---
CYP2A7	1549	broad.mit.edu	37	19	41386418	41386418	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:41386418C>A	ENST00000301146.4	-	3	1000	c.459G>T	c.(457-459)tcG>tcT	p.S153S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAGGAAGCCCGACTCCTCCT	0.672													4	108	---	---	---	---
CEACAM4	1089	broad.mit.edu	37	19	42132091	42132091	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42132091G>T	ENST00000221954.2	-	2	418	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	103	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGATCCATTGGGGTATACTGT	0.512													6	289	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42490070	42490070	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42490070C>A	ENST00000545399.1	-	6	744	c.591G>T	c.(589-591)aaG>aaT	p.K197N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K184N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	184					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K184K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTCTCCACCCTTGATCTCCA	0.642													5	175	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43383715	43383715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:43383715G>T	ENST00000244296.2	-	1	156	c.19C>A	c.(19-21)Cct>Act	p.P7T	PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000436291.2_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.567													6	237	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368													5	132	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45314562	45314562	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45314562C>A	ENST00000589651.1	+	2	217	c.163C>A	c.(163-165)Cct>Act	p.P55T	BCAM_ENST00000270233.6_Missense_Mutation_p.P55T			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGACTGCACCCCTACGGGAAC	0.592													6	208	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911704	45911704	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45911704G>T	ENST00000309424.3	+	3	966	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	160					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACCAGTCACAGGGCCTAGGTC	0.622													5	99	---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48305095	48305095	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:48305095G>T	ENST00000535759.1	-	4	1463	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000322175.3_Silent_p.P391P			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	391						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCTCCTCTTGGGGCTGAGACC	0.527													7	293	---	---	---	---
SPHK2	56848	broad.mit.edu	37	19	49131475	49131475	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49131475G>T	ENST00000443164.1	+	4	1704	c.999G>T	c.(997-999)gtG>gtT	p.V333V	SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000245222.4_Silent_p.V271V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGATGCCTGTGGGCATCCTCC	0.652													4	79	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49967984	49967984	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49967984C>A	ENST00000293350.4	+	12	1696	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	ALDH16A1_ENST00000540132.1_Silent_p.P348P|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	511							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGCTGTTCCCTCAACCCTGC	0.617													6	273	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52620075	52620075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52620075G>T	ENST00000600228.1	-	4	603	c.342C>A	c.(340-342)ccC>ccA	p.P114P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTTTTCATGGGGCACTGGCA	0.343													6	351	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659287	52659287	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52659287C>A	ENST00000322146.8	-	5	2170	c.1649G>T	c.(1648-1650)gGg>gTg	p.G550V	ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGCTCCCCAGTATGAAT	0.373													8	418	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53085779	53085779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53085779C>A	ENST00000540331.1	+	5	890	c.665C>A	c.(664-666)cCc>cAc	p.P222H	ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	156					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)		ATATTTCACCCCGAAGGGAAA	0.418													6	225	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762616	53762616	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53762616C>A	ENST00000341702.3	+	1	1072	c.988C>A	c.(988-990)Ctt>Att	p.L330I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	330					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGTTACGCCCTTTCCTTCAT	0.443													7	379	---	---	---	---
MIR520A	574467	broad.mit.edu	37	19	54194198	54194198	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54194198C>A	ENST00000384862.1	+	0	64					NR_030189.1																						AAGTGCTTCCCTTTGGACTGT	0.458													5	199	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54676750	54676750	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54676750G>T	ENST00000376591.4	-	1	194	c.63C>A	c.(61-63)ccC>ccA	p.P21P	TMC4_ENST00000301187.4_Silent_p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	21						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCCTCCCGGGGGGCCAGCC	0.637													7	292	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106604	55106604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55106604C>A	ENST00000453777.1	+	5	568	c.398C>A	c.(397-399)cCt>cAt	p.P133H	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P133H|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	133	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTACCCAGCCCTGTGGTGACC	0.547													5	181	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55331383	55331383	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55331383G>T	ENST00000391728.4	+	4	604	c.571G>T	c.(571-573)Ggg>Tgg	p.G191W	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGCCCTTGCAGGGACCTACAG	0.552													7	510	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55589469	55589469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55589469C>A	ENST00000201647.6	+	3	87	c.31C>A	c.(31-33)Cca>Aca	p.P11T	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	11						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAGCTGCCCCAAAGCCAAG	0.572													6	88	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55805464	55805464	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55805464C>A	ENST00000309383.1	+	5	815	c.538C>A	c.(538-540)Ctg>Atg	p.L180M	BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	180	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGGCGTCCCTGCAGGTGGG	0.607													7	362	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243925	56243925	+	Missense_Mutation	SNP	C	C	A	rs75470507		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56243925C>A	ENST00000332836.2	-	2	1299	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATCACGCCCTCAGACTCAG	0.473													6	290	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56482023	56482023	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56482023G>T	ENST00000291971.3	+	6	2566	c.2495G>T	c.(2494-2496)gGg>gTg	p.G832V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	832						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAACTGTGGGGCGTATTAC	0.478													6	307	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867524	57867524	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867524C>A	ENST00000391705.3	+	4	571	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	ZNF304_ENST00000282286.5_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGTGTGACCCACTCTTGAAA	0.502													4	93	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867922	57867922	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867922G>T	ENST00000391705.3	+	4	969	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	ZNF304_ENST00000282286.5_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGGTGATGAAGGGAAAGCCTT	0.493													5	182	---	---	---	---
ZNF587	84914	broad.mit.edu	37	19	58370392	58370392	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58370392C>A	ENST00000339656.5	+	3	794	c.612C>A	c.(610-612)ccC>ccA	p.P204P	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATGGCCCACCCTTTCAGGAGG	0.463													6	333	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453683	58453683	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58453683C>A	ENST00000282308.3	-	3	689	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	165					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGGGCTTCCCAGATACTTCA	0.468													5	180	---	---	---	---
DEFB128	245939	broad.mit.edu	37	20	168756	168756	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:168756C>A	ENST00000334391.4	-	2	110	c.53G>T	c.(52-54)gGg>gTg	p.G18V		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	18					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GAGTCTTGCCCCGTCTGTGCA	0.428													6	324	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1616989	1616989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:1616989G>T	ENST00000381580.1	-	3	673	c.494C>A	c.(493-495)cCc>cAc	p.P165H	RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.P198H			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	198	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGTCCTGTGGGGTCCACGTT	0.567													5	151	---	---	---	---
GPCPD1	56261	broad.mit.edu	37	20	5528362	5528362	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:5528362C>A	ENST00000379019.4	-	20	2176	c.1964G>T	c.(1963-1965)gGg>gTg	p.G655V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	655					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	p.G655V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATCAGACTCCCCACACAAAGA	0.488													7	280	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8862392	8862392	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:8862392C>A	ENST00000338037.6	+	32	3574	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1183					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGTTCTGCCCCTCTCTCCCT	0.488													6	276	---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393194	10393194	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10393194G>T	ENST00000347364.3	-	3	1731	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MKKS_ENST00000399054.2_Silent_p.P323P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome		Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTTAGTCAGGGGTTCCATCA	0.363													6	362	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620399	10620399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10620399G>T	ENST00000254958.5	-	26	3919	c.3404C>A	c.(3403-3405)cCc>cAc	p.P1135H	JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1135					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATCCTTGATGGGGACCGTGTT	0.478									Alagille Syndrome				5	163	---	---	---	---
NAA20	51126	broad.mit.edu	37	20	19998659	19998659	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:19998659C>A	ENST00000398602.2	+	0	626				NAA20_ENST00000484480.1_Intron|NAA20_ENST00000334982.4_Intron|NAA20_ENST00000310450.4_Intron	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit							cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						CACTGCGTCCCCTGCAGCAGA	0.517													7	333	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25666253	25666253	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:25666253C>A	ENST00000376436.1	-	3	739	c.200G>T	c.(199-201)gGg>gTg	p.G67V	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCACTTCCCCTTGCTCTAG	0.582													6	350	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35071155	35071155	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35071155C>A	ENST00000373913.3	+	6	1862	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H	DLGAP4_ENST00000373907.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	461					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCCCTGATCCCCCAGTTGTTT	0.582													17	1554	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35627245	35627245	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35627245G>T	ENST00000373664.3	-	22	3190	c.3124C>A	c.(3124-3126)Cct>Act	p.P1042T		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1042					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGTTTGGCAGGGGATTCTGCA	0.398													7	204	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35668629	35668629	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35668629G>T	ENST00000373664.3	-	14	1896	c.1830C>A	c.(1828-1830)ccC>ccA	p.P610P	RBL1_ENST00000344359.3_Silent_p.P610P	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	610	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTGGCATCAGGGGAAGATGTC	0.403													6	249	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37121612	37121612	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:37121612C>A	ENST00000262879.6	+	3	510	c.226C>A	c.(226-228)Ctt>Att	p.L76I	RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	76					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator 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						TGGACTGACCCTTCCATTGGA	0.353													6	363	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39830761	39830761	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:39830761G>T	ENST00000309060.3	-	4	3211	c.2796C>A	c.(2794-2796)ccC>ccA	p.P932P	ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	932					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGGGACACGGGGCTCCCACG	0.597													5	150	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049243	40049243	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:40049243G>T	ENST00000373233.3	-	31	6209	c.6032C>A	c.(6031-6033)cCc>cAc	p.P2011H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2011					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGATATGTGGGGAAAACGTT	0.418													5	185	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43545423	43545423	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:43545423G>T	ENST00000255136.3	+	3	496	c.414G>T	c.(412-414)cgG>cgT	p.R138R	PABPC1L_ENST00000217073.2_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ATGGCTCCCGGGGTTTCGGCT	0.557													7	286	---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44540149	44540149	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:44540149C>A	ENST00000542937.1	-	1	537	c.3G>T	c.(1-3)atG>atT	p.M1I	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000354050.4_Intron			P55058	PLTP_HUMAN	phospholipid transfer protein	0					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGCTTAAACCCATTCCTTGGA	0.587													3	25	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46262785	46262785	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:46262785C>A	ENST00000341724.6	+	10	1249	c.988C>A	c.(988-990)Cca>Aca	p.P330T	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	321					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATATTTTCCCCAACAGCTTA	0.403													6	259	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50245576	50245576	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:50245576C>A	ENST00000338821.5	-	16	1968	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	568					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATCTGCTCCCTTCATGTAAA	0.488													5	255	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57036205	57036205	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:57036205C>A	ENST00000371149.3	-	4	1377	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W	APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	383						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACCAGGCCCCCGCACCCCCA	0.632													5	111	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19716360	19716360	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:19716360G>T	ENST00000284885.3	-	11	1222	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCCAGTTGGGGTAGAAATG	0.393													6	215	---	---	---	---
KRTAP11-1	337880	broad.mit.edu	37	21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:32253560G>T	ENST00000332378.4	-	1	314	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	95						keratin filament	structural molecule activity	p.P95H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572													4	71	---	---	---	---
SON	6651	broad.mit.edu	37	21	34922453	34922453	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:34922453C>A	ENST00000356577.4	+	3	1391	c.916C>A	c.(916-918)Ctt>Att	p.L306I	SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	306					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCAGAAACCCTTGTGGTATC	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	139	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35247673	35247673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35247673C>A	ENST00000381318.3	+	34	4477	c.4189C>A	c.(4189-4191)Cct>Act	p.P1397T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1397	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACACCCCTGAAAACCA	0.577													5	106	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35467811G>T	ENST00000608209.1	+	2	826	c.314G>T	c.(313-315)gGg>gTg	p.G105V	SLC5A3_ENST00000381151.3_Missense_Mutation_p.G105V|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453													13	421	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468305	35468305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35468305C>A	ENST00000608209.1	+	2	1320	c.808C>A	c.(808-810)Cca>Aca	p.P270T	SLC5A3_ENST00000381151.3_Missense_Mutation_p.P270T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAGACCCCAGCTTCAGT	0.483													6	199	---	---	---	---
DSCR10	259234	broad.mit.edu	37	21	39580507	39580507	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:39580507C>A	ENST00000432141.1	+	0	629					NR_027695.1																						CAAGCTGTCCCCGTGTGTATG	0.483													10	718	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43541262	43541262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43541262G>T	ENST00000400424.2	+	16	2935	c.2539G>T	c.(2539-2541)Ggg>Tgg	p.G847W	UMODL1_ENST00000408910.2_Missense_Mutation_p.G919W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AAACACCCTCGGGTCTTTCAC	0.498													5	225	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43543034	43543034	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43543034C>A	ENST00000400424.2	+	17	3101	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	UMODL1_ENST00000408910.2_Missense_Mutation_p.P974H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 3; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCACCAGCCCCACCCCCCAA	0.632													5	58	---	---	---	---
ADARB1	104	broad.mit.edu	37	21	46642109	46642109	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:46642109C>A	ENST00000539173.1	+	12	2658	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ADARB1_ENST00000360697.3_Silent_p.P741P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	741					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CACTCACGCCCTGACCCGGGC	0.652													4	27	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47615609	47615609	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47615609C>A	ENST00000397728.3	-	19	1876	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	600					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TAGGTCTGCCCCATACAGGCG	0.577													5	121	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47957170	47957170	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47957170G>T	ENST00000318711.7	+	14	1862	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	DIP2A_ENST00000417564.2_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	559					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATTTCAAAAGGGATGCTGGT	0.458													7	514	---	---	---	---
MRPL40	64976	broad.mit.edu	37	22	19423373	19423373	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19423373C>A	ENST00000333130.3	+	4	1162	c.509C>A	c.(508-510)cCc>cAc	p.P170H	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	170					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AACCTGTTCCCCTTTGAGAAG	0.542													4	80	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19504130	19504130	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19504130G>T	ENST00000407835.1	+	17	1777	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V			O75419	CDC45_HUMAN	cell division cycle 45	507					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGACCGTGGTGGGCATCCCCC	0.612													4	60	---	---	---	---
IGLV2-11	28816	broad.mit.edu	37	22	23135371	23135371	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23135371G>T	ENST00000390314.2	+	0	275																											CGGCCCTCAGGGGTCCCTGAT	0.537													8	511	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165662	23165662	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23165662G>T	ENST00000390317.2	+	0	395																											CGGCCCTCAGGGGTCCCTGAT	0.552													8	458	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688975	26688975	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26688975C>A	ENST00000529632.2	+	2	894	c.698C>A	c.(697-699)cCc>cAc	p.P233H	SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	233						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGAGGCCCCCCAGGAGGAC	0.632													4	73	---	---	---	---
SRRD	402055	broad.mit.edu	37	22	26884425	26884425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26884425C>A	ENST00000215917.7	+	4	594	c.580C>A	c.(580-582)Ctt>Att	p.L194I		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process			p.L194I(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTAACACCCTTGGTGTGAC	0.458													6	307	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27021546	27021546	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:27021546C>A	ENST00000354760.3	+	4	295	c.260C>A	c.(259-261)cCc>cAc	p.P87H	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	87	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACGGCCTACCCCGCCGAGAGG	0.632													7	202	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29907141	29907141	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:29907141C>A	ENST00000490103.1	-	19	2064	c.1942G>T	c.(1942-1944)Ggg>Tgg	p.G648W	THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	648					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTTGGGCCCCTCCACACTG	0.587													5	175	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30057273	30057273	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30057273C>A	ENST00000338641.4	+	8	1196	c.755C>A	c.(754-756)cCc>cAc	p.P252H	NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	252	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGACTGACCCCCAAGATCTCC	0.498			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				5	182	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30412587	30412587	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30412587G>T	ENST00000333027.3	+	15	1902	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000401950.2_Missense_Mutation_p.G525V|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	525	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGGAGAGAGGGGAAAAGCAT	0.478													7	315	---	---	---	---
RBFOX2	23543	broad.mit.edu	37	22	36177715	36177715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:36177715G>T	ENST00000405409.2	-	3	699	c.331C>A	c.(331-333)Ccg>Acg	p.P111T	RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P181T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	120					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						AGCCGTTTCGGGGTAGATTTA	0.458													6	344	---	---	---	---
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38010280G>T	ENST00000343632.4	+	2	513	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592													4	56	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38258978	38258978	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38258978G>T	ENST00000412331.2	+	6	1020	c.438G>T	c.(436-438)ggG>ggT	p.G146G	EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	146						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTACAGGGGGGACCTTCCT	0.378													6	218	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41527561	41527561	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41527561C>A	ENST00000263253.7	+	6	2671	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	484					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGACACAACCCCAGGTGCAAG	0.498			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	138	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41551078	41551078	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41551078C>A	ENST00000263253.7	+	17	4441	c.3222C>A	c.(3220-3222)ccC>ccA	p.P1074P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1074	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATCCCTTCCCTTTCGTCAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	566	---	---	---	---
L3MBTL2	83746	broad.mit.edu	37	22	41605896	41605896	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41605896C>A	ENST00000216237.5	+	2	379	c.221C>A	c.(220-222)cCt>cAt	p.P74H	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	74					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCTCAGCCCTGGGACTCCT	0.567													5	180	---	---	---	---
POLDIP3	84271	broad.mit.edu	37	22	42998805	42998805	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:42998805G>T	ENST00000252115.5	-	2	525	c.421C>A	c.(421-423)Cct>Act	p.P141T	POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	141					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCAGAGCAGGGGTCACTGTC	0.532													6	186	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44178084	44178084	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:44178084G>T	ENST00000262726.7	-	3	368	c.115C>A	c.(115-117)Cca>Aca	p.P39T	EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTTATTTGGGGAACCATTC	0.358													8	267	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46733731	46733731	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:46733731G>T	ENST00000290846.4	+	2	478	c.138G>T	c.(136-138)ggG>ggT	p.G46G	TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	46						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		ATGAACATGGGGTCTGTACTG	0.453													5	170	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50987604	50987604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:50987604C>A	ENST00000395676.2	+	1	1143	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	337										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCTGACCCAGGTGCCCGA	0.697													5	187	---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	307979	307979	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:307979G>T	ENST00000390665.3	-	4	725	c.707C>A	c.(706-708)cCc>cAc	p.P236H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	236					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCAAGAAGGGGACAAAGTC	0.617													5	139	---	---	---	---
BMX	660	broad.mit.edu	37	X	15534241	15534241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:15534241G>T	ENST00000357607.2	+	5	520	c.332G>T	c.(331-333)aGg>aTg	p.R111M	BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.R111M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	111	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCAGAGATAAGGGGTAACCCC	0.478													5	159	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19031991	19031991	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:19031991G>T	ENST00000354791.3	-	15	1105	c.864C>A	c.(862-864)ccC>ccA	p.P288P	GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379869.3_Silent_p.P304P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	304					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGAAGGCTGGGGTGAAAGGG	0.557													4	84	---	---	---	---
RPS6KA3	6197	broad.mit.edu	37	X	20185708	20185708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:20185708C>A	ENST00000379565.3	-	17	1808	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	534	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						AAGACTTACCCCTTGTGCGTG	0.343													6	239	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22132642	22132642	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:22132642C>A	ENST00000379374.4	+	11	1805	c.1240C>A	c.(1240-1242)Ctc>Atc	p.L414I	PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	414					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGTGCCCTCCCTTATGT	0.403													5	122	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972728	29972728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:29972728C>A	ENST00000378993.1	+	10	1964	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	431	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L431I(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACGTTTTGCCCTTGAAATCCT	0.348													5	115	---	---	---	---
BTK	695	broad.mit.edu	37	X	100613415	100613415	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100613415C>A	ENST00000308731.7	-	12	1148	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	BTK_ENST00000372880.1_Missense_Mutation_p.G329W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTATCACCCCTTGAGGGTCC	0.473									Agammaglobulinemia, X-linked				4	111	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911778	100911778	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100911778C>A	ENST00000328766.5	-	5	1250	c.797G>T	c.(796-798)gGg>gTg	p.G266V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	266	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGGTATAGCCCCAGTGTGAGC	0.587													5	144	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494932	110494932	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:110494932C>A	ENST00000324068.1	-	6	905	c.738G>T	c.(736-738)tgG>tgT	p.W246C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	246	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCAGCAGACCCCAATCAGTTT	0.453													7	426	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111025269	111025269	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:111025269G>T	ENST00000262839.2	-	8	2912	c.1994C>A	c.(1993-1995)cCc>cAc	p.P665H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	665					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGGGCTGGGGATGATGTT	0.488													5	148	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185484	127185484	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:127185484C>A	ENST00000371124.3	-	1	898	c.702G>T	c.(700-702)cgG>cgT	p.R234R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGACCTCTCCCCGGCTCTTGC	0.512													5	166	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159054	129159054	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:129159054C>A	ENST00000540052.1	+	6	3822	c.3778C>A	c.(3778-3780)Ccc>Acc	p.P1260T	BCORL1_ENST00000218147.7_Missense_Mutation_p.P1260T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAGGTAACCCCCACCCCAGC	0.577													5	120	---	---	---	---
OR13H1	347468	broad.mit.edu	37	X	130678846	130678846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:130678846C>A	ENST00000338616.3	+	1	897	c.799C>A	c.(799-801)Cct>Act	p.P267T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CAAGTCCTACCCTGACCAGGA	0.453													5	186	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136652080	136652080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:136652080C>A	ENST00000287538.5	+	3	1805	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	419					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGATTCCTCCCCTGCTGCCAG	0.403													5	156	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985097	140985097	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:140985097C>A	ENST00000298296.1	+	7	1553	c.1553C>A	c.(1552-1554)cCc>cAc	p.P518H	MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATATGGACCCCGACAACCAC	0.448													5	188	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147733627	147733627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:147733627G>T	ENST00000370460.2	+	2	634	c.155G>T	c.(154-156)gGg>gTg	p.G52V	AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	52					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTTTTTGGGGAGCCATAC	0.368													5	182	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148798186	148798186	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:148798186G>T	ENST00000355220.5	+	5	1142	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	347	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATGCTGGAAGGGAGCACTTC	0.537													7	251	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150909341	150909341	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:150909341C>A	ENST00000329903.4	+	4	483	c.450C>A	c.(448-450)ccC>ccA	p.P150P		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	150					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATGCCCGTCCTTTACA	0.557													4	168	---	---	---	---
