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
KIF17	57576	broad.mit.edu	37	1	21009246	21009246	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:21009246G>A	uc001bdr.4	-	10	2481	c.2363C>T	c.(2362-2364)tCg>tTg	p.S788L	KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	788					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCCTCATCCGAGTTCTGCAG	0.607												
DNALI1	7802	broad.mit.edu	37	1	38025070	38025070	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:38025070C>T	uc001cbj.3	+	2	446	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DNALI1_uc010oie.2_Intron	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	124					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCCTGTCCGCAGGGAACT	0.587												
TIE1	7075	broad.mit.edu	37	1	43784978	43784978	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:43784978G>T	uc001ciu.3	+	17	3172	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	999	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGACTTCGGCCTTTCTCG	0.577												
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A	rs146128865	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152284263G>A	uc001ezu.1	-	2	3135	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1033	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)			GGCGGGATCCGTGTCTTTCTC	0.567									Ichthyosis			
LCE3A	353142	broad.mit.edu	37	1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152595450C>T	uc010pdt.2	-	0	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	44					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657												
HMCN1	83872	broad.mit.edu	37	1	186045741	186045741	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:186045741A>G	uc001grq.1	+	53	8701	c.8472A>G	c.(8470-8472)gtA>gtG	p.V2824V	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2824	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGATAAAGTATTGATTTTGC	0.428												
LEFTY2	7044	broad.mit.edu	37	1	226127598	226127598	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:226127598G>A	uc001hpt.2	-	1	598	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	119					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGAAGAGCCGCAGCACGGCC	0.741												
OR2T1	26696	broad.mit.edu	37	1	248569915	248569915	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:248569915T>C	uc010pzm.2	+	0	620	c.620T>C	c.(619-621)tTc>tCc	p.F207S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTGGATGGCTTCCTCCTAACC	0.537												
OR51A7	119687	broad.mit.edu	37	11	4929295	4929295	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:4929295G>T	uc010qyq.2	+	0	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGGCAGAGAGGCTTAAGG	0.478												
OR52B6	340980	broad.mit.edu	37	11	5602633	5602633	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:5602633T>A	uc010qzi.2	+	0	527	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATTATGTTTCCATCCATC	0.498												
PIK3C2A	5286	broad.mit.edu	37	11	17111388	17111388	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:17111388C>T	uc001mmq.4	-	31	5023	c.4958G>A	c.(4957-4959)cGg>cAg	p.R1653Q	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1653	C2.				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)	AAAATTCTCCCGCAGAGATTC	0.413												
MS4A14	84689	broad.mit.edu	37	11	60184370	60184370	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:60184370T>C	uc001npj.3	+	4	2494	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	643	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATGCCAAGATTCAGAATCCC	0.473												
RBM14	5936	broad.mit.edu	37	11	66411465	66411465	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:66411465C>T	uc009yrj.3	+	2	1445	c.957C>T	c.(955-957)ccC>ccT	p.P319P	RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	510	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCAGTCCCCACTGTTGGAG	0.622												
POU2AF1	5450	broad.mit.edu	37	11	111229596	111229596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:111229596C>T	uc001plg.4	-	1	319	c.64G>A	c.(64-66)Gtc>Atc	p.V22I		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	22					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACACGGACGCCCTGGTAT	0.647			T	BCL6	NHL							
CD3E	916	broad.mit.edu	37	11	118183512	118183512	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:118183512T>C	uc001psq.4	+	5	539	c.283T>C	c.(283-285)Tat>Cat	p.Y95H	CD3E_uc010rya.2_Missense_Mutation_p.Y95H	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	95	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCAAAGTGGTTATTATGTCTG	0.443												
C1QTNF5	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:119215663G>A	uc010rzg.1	-	5	853	c.693C>T	c.(691-693)ctC>ctT	p.L231L	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	231	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGACCACCAGGAGGTGGCTGG	0.617												
OR10G7	390265	broad.mit.edu	37	11	123909127	123909127	+	Silent	SNP	G	G	A	rs147011748	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:123909127G>A	uc001pzq.1	-	0	582	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N194N(2)|p.N194K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537												
ACSM4	341392	broad.mit.edu	37	12	7456944	7456944	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:7456944G>A	uc001qsx.1	+	0	17	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	6					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTTTTTTCCGCTACCAGACA	0.468												
SLCO1B3	28234	broad.mit.edu	37	12	21036410	21036410	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21036410C>T	uc010sil.2	+	10	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	519					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATTACTCAGCACACTTGGGT	0.338												
ABCC9	10060	broad.mit.edu	37	12	21997448	21997448	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21997448C>T	uc001rfh.3	-	25	3304	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCTGAAAAGCGATTGAGAAT	0.353												
STK38L	23012	broad.mit.edu	37	12	27467499	27467499	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:27467499A>G	uc001rhr.3	+	6	779	c.580A>G	c.(580-582)Att>Gtt	p.I194V	STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	194	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAGTTCTACATTTCAGAGAC	0.378												
CACNB3	784	broad.mit.edu	37	12	49218455	49218455	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:49218455A>G	uc001rsl.2	+	4	870	c.411A>G	c.(409-411)agA>agG	p.R137R	CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	137					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TTCTCAGGAGATCTGGGAACC	0.483												
RNF17	56163	broad.mit.edu	37	13	25444863	25444863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:25444863C>T	uc001upr.3	+	31	4474	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1478					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		CCTCCTCTGACGGATTTTAGA	0.423												
PCDH20	64881	broad.mit.edu	37	13	61985634	61985634	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:61985634C>T	uc001vid.4	-	1	2962	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	PCDH20_uc010thj.2_Silent_p.E866E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	839					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)		GTTCTTTCTCCTCTATATTAA	0.393												
OR4K17	390436	broad.mit.edu	37	14	20586156	20586156	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:20586156G>A	uc001vwo.1	+	0	591	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGAACTTGCCCTTTTGTG	0.428												
CLEC14A	161198	broad.mit.edu	37	14	38724256	38724256	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:38724256G>T	uc001wum.1	-	0	1319	c.972C>A	c.(970-972)gaC>gaA	p.D324E		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	324						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGCTTCTCGTCGACCCTGA	0.602												
PLEKHG3	26030	broad.mit.edu	37	14	65208951	65208951	+	Missense_Mutation	SNP	C	C	G	rs150120531	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:65208951C>G	uc001xhp.2	+	15	3118	c.3079C>G	c.(3079-3081)Cgc>Ggc	p.R1027G	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	906					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P1027Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACTGCACCCCCGCATCGTGCA	0.662												
AK7	122481	broad.mit.edu	37	14	96864516	96864516	+	Missense_Mutation	SNP	A	A	T	rs17853407		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:96864516A>T	uc001yfn.2	+	1	254	c.210A>T	c.(208-210)aaA>aaT	p.K70N	AK7_uc001yfm.1_Missense_Mutation_p.K70N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	70					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTCAACCAAAGTGAAGGAAG	0.507												
JAG2	3714	broad.mit.edu	37	14	105609273	105609273	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:105609273C>T	uc001yqg.3	-	25	3880	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1159					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gtccgccctgcgcggcggcgg	0.721												
PIF1	80119	broad.mit.edu	37	15	65110455	65110455	+	Splice_Site	DEL	C	C	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:65110455delC	uc002ant.2	-	10	1594	c.1528_splice	c.e10+1	p.G510_splice	PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	510	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCAACACTTACCTCTCCCTTC	0.582												
LRRK1	79705	broad.mit.edu	37	15	101595366	101595366	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:101595366G>A	uc002bwr.3	+	26	4589	c.4270G>A	c.(4270-4272)Gtg>Atg	p.V1424M	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1424	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCCCTAGGCGTGGAGGGCAC	0.567												
APOBR	55911	broad.mit.edu	37	16	28507939	28507939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:28507939C>T	uc002dqb.2	+	1	1610	c.1577C>T	c.(1576-1578)gCc>gTc	p.A526V	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A55V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	517	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACTCCAGAGGCCAGGCCTGAG	0.652												
SLC5A2	6524	broad.mit.edu	37	16	31500623	31500623	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:31500623G>A	uc002ecf.4	+	11	1648	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	543					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.L542F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCACCCTCACGGTCTCCCTGT	0.637												
NOL3	8996	broad.mit.edu	37	16	67208819	67208819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:67208819C>T	uc010vjd.2	+	2	774	c.581C>T	c.(580-582)cCg>cTg	p.P194L	NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	194					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcccgagcccgacttcgaGG	0.672												
FOXL1	2300	broad.mit.edu	37	16	86613224	86613224	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:86613224G>A	uc002fjr.3	+	0	1110	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	299					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCGCTCCTGGCCGCCTCCTC	0.672												
TRPV1	7442	broad.mit.edu	37	17	3493599	3493599	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:3493599G>A	uc010vro.2	-	3	725	c.692C>T	c.(691-693)gCg>gTg	p.A231V	TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	231					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCATGGGCCGCAGCCTGGAC	0.572												
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:39274424G>C	uc002hvz.3	-	0	183	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672												
POTEC	388468	broad.mit.edu	37	18	14542809	14542809	+	Missense_Mutation	SNP	C	C	T	rs113041483		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr18:14542809C>T	uc010dln.3	-	0	791	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	113										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCTTGCCGCTCCCCCTG	0.597												
ABCA7	10347	broad.mit.edu	37	19	1056425	1056425	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:1056425C>T	uc002lqw.4	+	32	4744	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1505					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.A1504V(1)|p.R1505L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		AGGCCCGGCCCGCCACGCCCA	0.612												
EMR1	2015	broad.mit.edu	37	19	6906478	6906478	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:6906478C>T	uc002mfw.3	+	8	1022	c.984C>T	c.(982-984)ccC>ccT	p.P328P	EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	328	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGTGATACCCGATAATAAGC	0.388												
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667												
ZNF676	163223	broad.mit.edu	37	19	22364159	22364159	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:22364159G>C	uc002nqs.1	-	2	678	c.360C>G	c.(358-360)aaC>aaG	p.N120K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAAAGACGTTTGCATATT	0.328												
PSG7	5676	broad.mit.edu	37	19	43441294	43441294	+	Translation_Start_Site	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:43441294C>T	uc002ovl.4	-	0					PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_5'UTR	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617												
C5AR1	728	broad.mit.edu	37	19	47823567	47823567	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:47823567G>A	uc002pgj.1	+	1	582	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	178					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGGGTGGTCCGGGAGGAGTAC	0.637												
SPHK2	56848	broad.mit.edu	37	19	49132307	49132307	+	Silent	SNP	A	A	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:49132307A>C	uc002pjw.3	+	4	2125	c.1428A>C	c.(1426-1428)tcA>tcC	p.S476S	SPHK2_uc010xzt.2_Silent_p.S355S|SPHK2_uc002pjt.3_Silent_p.S208S|SPHK2_uc002pjr.3_Silent_p.S414S|SPHK2_uc002pjs.3_Silent_p.S414S|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.S378S	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	414					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)		tggcccactcacccctgcatc	0.677												
POLD1	5424	broad.mit.edu	37	19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:50918754G>A	uc010eny.3	+	19	2703	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	875					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)				
CCDC148	130940	broad.mit.edu	37	2	159215014	159215015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:159215014_159215015insT	uc002tzq.3	-	1	407_408	c.93_94insA	c.(91-96)caattgfs	p.Q31fs	CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	31										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AATGCACGCAATTGTTGATAGT	0.322												
ITGB6	3694	broad.mit.edu	37	2	160993973	160993973	+	Silent	SNP	G	G	A	rs61737765	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:160993973G>A	uc002ubh.2	-	9	1647	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	544	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGTCTCACGCAGGAGAAAT	0.527												
COL6A3	1293	broad.mit.edu	37	2	238275681	238275681	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:238275681C>T	uc002vwl.2	-	10	5434	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1717	Nonhelical region.|VWFA 9.				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)		TTAGTGTTGGCGTGTCTTCCC	0.542												
SNX5	27131	broad.mit.edu	37	20	17929612	17929612	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:17929612C>T	uc002wqc.3	-	9	926	c.840G>A	c.(838-840)gaG>gaA	p.E280E	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	280	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	p.E280D(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAACTCGACCCTCTACTTTCT	0.383												
NCOA3	8202	broad.mit.edu	37	20	46264906	46264906	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:46264906C>T	uc002xtk.3	+	11	2037	c.1776C>T	c.(1774-1776)caC>caT	p.H592H	NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	592	Ser-rich.				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						GCAGAGATCACCTCAGTGACA	0.423												
DSCAM	1826	broad.mit.edu	37	21	41455893	41455893	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr21:41455893C>T	uc002yyq.1	-	23	4625	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1391	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAAGACGTGGTCTTGG	0.433												
CDC45	8318	broad.mit.edu	37	22	19504408	19504408	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:19504408A>C	uc011aha.2	+	17	1802	c.1724A>C	c.(1723-1725)gAc>gCc	p.D575A	CDC45_uc002zpr.3_Missense_Mutation_p.D543A|CDC45_uc002zpt.3_Missense_Mutation_p.D497A	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	543					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						AACCATTTTGACCTCTCAGGT	0.572												
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:20920814_20920816delCAG	uc002zsp.3	+	6	831_833	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.3_In_Frame_Del_p.Q262del|MED15_uc010gso.3_In_Frame_Del_p.Q262del|MED15_uc002zsr.3_In_Frame_Del_p.Q236del|MED15_uc011ahs.2_In_Frame_Del_p.Q236del|MED15_uc002zss.3_In_Frame_Del_p.Q181del|MED15_uc011ahu.2_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591												
abParts	96610	broad.mit.edu	37	22	22994945	22994950	+	Splice_Site	DEL	ATGTGA	ATGTGA	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr22:22994945_22994950delATGTGA	uc021wml.1	+						abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		gtgtgtgggtatgtgagtgtgagtgt	0.549												
BSN	8927	broad.mit.edu	37	3	49689184	49689184	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:49689184G>A	uc003cxe.4	+	4	2309	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	732					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)		AGCAGCATGCGGCCTTTGCTG	0.667												
SEMA3G	56920	broad.mit.edu	37	3	52475289	52475289	+	Silent	SNP	G	G	A	rs138050174		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:52475289G>A	uc003dea.1	-	6	804	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	268	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R268C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGCAGACGCGGCCCACGC	0.612												
PLXNA1	5361	broad.mit.edu	37	3	126733439	126733439	+	Missense_Mutation	SNP	G	G	A	rs138171477		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:126733439G>A	uc003ejg.3	+	11	2723	c.2723G>A	c.(2722-2724)aGc>aAc	p.S908N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	908	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCTGTGCAGCCCTGTGGAG	0.701												
D4S234E	27065	broad.mit.edu	37	4	4411320	4411320	+	Silent	SNP	C	C	T	rs143847165		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:4411320C>T	uc011bvz.2	+	6	1548	c.267C>T	c.(265-267)ttC>ttT	p.F89F	D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	89					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TGGTCCTCTTCGCCCTGGCCT	0.617												
UGT2A3	79799	broad.mit.edu	37	4	69795715	69795715	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:69795715C>T	uc003hef.2	-	5	1431	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	467						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						TCCTTTGTGGCGCATGACAAA	0.488												
EGF	1950	broad.mit.edu	37	4	110864421	110864421	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:110864421T>C	uc003hzy.4	+	2	791	c.339T>C	c.(337-339)aaT>aaC	p.N113N	EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	113					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAGTATGTAATATAGAGAAAA	0.254												
FAT4	79633	broad.mit.edu	37	4	126241369	126241369	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:126241369C>T	uc003ifj.4	+	0	3803	c.3803C>T	c.(3802-3804)aCa>aTa	p.T1268I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1268	Cadherin 12.				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						GGTCAGGTAACACTAATTGGC	0.373												
INPP4B	8821	broad.mit.edu	37	4	143159105	143159105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:143159105G>A	uc003iix.4	-	12	1343	c.748C>T	c.(748-750)Cga>Tga	p.R250*	INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	250					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCGAATTCGCATCCACTTA	0.318												
SH3RF1	57630	broad.mit.edu	37	4	170043337	170043337	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:170043337A>G	uc003isa.1	-	6	1595	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	SH3RF1_uc010irc.1_Silent_p.A120A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	420	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCAGCGGCGGTGG	0.582												
DNAH5	1767	broad.mit.edu	37	5	13719110	13719110	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:13719110C>T	uc003jfd.2	-	71	12422	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H	DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4127	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCCAGAGGCGGAACGCATC	0.493									Kartagener syndrome			
TRIO	7204	broad.mit.edu	37	5	14462975	14462975	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:14462975C>G	uc003jff.3	+	35	5614	c.5608C>G	c.(5608-5610)Ccg>Gcg	p.P1870A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1870					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGTGCCCCTGCCGCCACCCAT	0.652												
GDNF	2668	broad.mit.edu	37	5	37816010	37816010	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:37816010C>T	uc011cpi.2	-	2	579	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	127					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTCAGTGACATTTAAATGT	0.493												
PIK3R1	5295	broad.mit.edu	37	5	67589199	67589213	+	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	uc003jva.3	+	9	1767_1781	c.1187_1201delTAACCTTCAGTTCTG	c.(1186-1203)ttaaccttcagttctgtg>ttg	p.TFSSV397del	PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	397	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	0.326			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PCDHAC2	56142	broad.mit.edu	37	5	140208958	140208958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140208958C>T	uc003lho.2	+	0	1309	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACCGCGCGGGACGGGGG	0.617												
PCDHGC5	56111	broad.mit.edu	37	5	140735359	140735359	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140735359C>T	uc003ljq.2	+	0	592	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAACGCGCTCTAGA	0.562												
PPARGC1B	133522	broad.mit.edu	37	5	149219665	149219665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:149219665C>T	uc003lrc.3	+	8	2771	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	894					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAAGCGGCGGGAAAAGGC	0.577												
NRN1	51299	broad.mit.edu	37	6	5999377	5999377	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:5999377C>T	uc003mwu.3	-	2	912	c.261G>A	c.(259-261)gcG>gcA	p.A87A	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	87						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ACATATCTTTCGCCCCTTCCT	0.527												
DSP	1832	broad.mit.edu	37	6	7584664	7584664	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:7584664T>C	uc003mxp.1	+	23	7448	c.7169T>C	c.(7168-7170)aTa>aCa	p.I2390T	DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2390	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGTTGACATAGCATATAAG	0.443												
GPR146	115330	broad.mit.edu	37	7	1098107	1098107	+	Frame_Shift_Del	DEL	G	G	-	rs147446123		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:1098107delG	uc003sjx.4	+	1	1155	c.956delG	c.(955-957)cggfs	p.R319fs	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCGGGGACCGGCACTGCTCC	0.617												
PDE1C	5137	broad.mit.edu	37	7	31855673	31855673	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:31855673C>T	uc003tcm.2	-	14	2139	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	560					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGCCAGATGCGCCTTCTTCA	0.502												
CD36	948	broad.mit.edu	37	7	80295787	80295787	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:80295787G>A	uc003uhc.3	+	10	1414	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	244					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCACTGCGACATGATTAA	0.348												
DPY19L2P2	349152	broad.mit.edu	37	7	102898149	102898149	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:102898149C>T	uc003vbh.4	-	7	2232	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		CATGAATGTGCGATACCAGGA	0.308												
SLC26A4	5172	broad.mit.edu	37	7	107303838	107303838	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:107303838G>A	uc003vep.3	+	2	486	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	88					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTAGTGACGTCATTTCGGG	0.502									Pendred syndrome			
WDR91	29062	broad.mit.edu	37	7	134874110	134874110	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:134874110A>G	uc003vsp.2	-	11	1816	c.1754T>C	c.(1753-1755)gTc>gCc	p.V585A	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	585										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCCGGATGACGCCATCAGC	0.488												
OR2F2	135948	broad.mit.edu	37	7	143632553	143632553	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:143632553C>T	uc011ktv.2	+	0	228	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75R(1)|p.T75T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATGCCACAAGCGTAGTCCCCC	0.517												
NOBOX	135935	broad.mit.edu	37	7	144098293	144098293	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:144098293G>T	uc022aoj.1	-	3	690	c.690C>A	c.(688-690)caC>caA	p.H230Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	230					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACTGGGTTGTGTGTGGCAC	0.617												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:24167473delA	uc003xdy.3	+	2	300	c.217delA	c.(217-219)aaafs	p.K73fs	ADAM28_uc003xdx.3_Frame_Shift_Del_p.K73fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	73					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTTATTTGAAAAAAAACAA	0.333												
DOCK5	80005	broad.mit.edu	37	8	25246735	25246735	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:25246735G>A	uc003xeg.3	+	40	4397	c.4260G>A	c.(4258-4260)tcG>tcA	p.S1420S	DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1420	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567												
BRF2	55290	broad.mit.edu	37	8	37704528	37704528	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:37704528C>T	uc003xkk.3	-	2	510	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GTTATGCTGTCGGCAGGTGAT	0.527												
SOX17	64321	broad.mit.edu	37	8	55371633	55371633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:55371633C>T	uc003xsb.4	+	1	527	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	108					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCGTGGAAGGCGCTGACGCTG	0.701												
WDR67	93594	broad.mit.edu	37	8	124113069	124113069	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:124113069A>G	uc003ypp.2	+	6	944	c.854A>G	c.(853-855)gAt>gGt	p.D285G	WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	285						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTAAGTCAAGATGGTATTATG	0.353												
ADCY8	114	broad.mit.edu	37	8	131896832	131896832	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:131896832T>G	uc003ytd.4	-	7	2343	c.2087A>C	c.(2086-2088)aAa>aCa	p.K696T	ADCY8_uc010mds.3_Missense_Mutation_p.K696T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	696					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGGAGTCTTTAAACATCAG	0.468										HNSCC(32;0.087)		
KIF24	347240	broad.mit.edu	37	9	34257897	34257897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:34257897G>A	uc003zua.4	-	10	1828	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	570					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTGAATTCGTTTTGGAGAG	0.448												
COL15A1	1306	broad.mit.edu	37	9	101810265	101810265	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:101810265C>A	uc004azb.1	+	27	2982	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	926	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAAAGGAGATCCAGGGGTCAT	0.617												
C9orf86	55684	broad.mit.edu	37	9	139726289	139726289	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:139726289G>A	uc004cjj.1	+	5	1032	c.575G>A	c.(574-576)cGt>cAt	p.R192H	C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GACGACGTGCGTGACTTCATC	0.677												
ARSH	347527	broad.mit.edu	37	X	2931164	2931164	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:2931164G>A	uc011mhj.2	+	2	291	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	97						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATGAAACGACTTTTGCCA	0.552												
ELK1	2002	broad.mit.edu	37	X	47496310	47496310	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47496310C>T	uc004dik.4	-	6	1527	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N	ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	402					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACCTGGGCGCTGCCACTGGA	0.597												
ZNF182	7569	broad.mit.edu	37	X	47842806	47842806	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47842806T>C	uc004dir.3	-	4	424	c.78A>G	c.(76-78)ctA>ctG	p.L26L	ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGTCACTAGCCCCTGTA	0.463												
WAS	7454	broad.mit.edu	37	X	48545194	48545194	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:48545194T>G	uc004dkm.4	+	6	641	c.584T>G	c.(583-585)cTg>cGg	p.L195R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	195					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCTCTCCCTGGGGCTGGCG	0.582			"""Mis, N, F, S"""			lymphoma						
SHROOM4	57477	broad.mit.edu	37	X	50377938	50377938	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:50377938C>T	uc004dpe.2	-	3	1161	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	379					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGGAATCCACGCTGGAAGCT	0.542												
ERCC6L	54821	broad.mit.edu	37	X	71425657	71425657	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:71425657T>C	uc004eaq.1	-	1	3057	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	987					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTCTGGAATTAGGTGCAGA	0.393												
AMOT	154796	broad.mit.edu	37	X	112025789	112025789	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:112025789C>A	uc004epr.3	-	7	2237	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	740					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCAAGGCAACGCTTATTGGC	0.453												
FAM70A	55026	broad.mit.edu	37	X	119410875	119410875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:119410875G>T	uc004eso.4	-	7	839	c.612C>A	c.(610-612)taC>taA	p.Y204*	FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582												
GDI1	2664	broad.mit.edu	37	X	153666947	153666947	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:153666947G>A	uc004fli.4	+	1	466	c.124G>A	c.(124-126)Gag>Aag	p.E42K	GDI1_uc011mzo.1_Missense_Mutation_p.E42K	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	42					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACGGGGGCGAGAGCTCCTC	0.617												
