Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LILRA2	11027	broad.mit.edu	37	19	55098805	55098805	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:55098805G>T	ENST00000251377.3	+	9	1577	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	LILRA2_ENST00000251376.3_Missense_Mutation_p.G465W|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G482W|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G453W					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGATGCAGCCGGGAGGTGAAC	0.567000													9	38					0.0692343	0.0717368	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090695	238090695	+	RNA	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:238090695G>T	ENST00000450451.1	+	0	2201					NR_027247.2																						GACCTGACAGGCTACCTCATG	0.617000													11	18					1.58986e-06	2.11436e-06	1	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55286745	55286745	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:55286745C>A	ENST00000336077.6	+	4	539	c.499C>A	c.(499-501)Cat>Aat	p.H167N	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H167N|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	167	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGGGGAGGCCCATGAACGTAG	0.612000													40	122					5.34276e-22	9.7761e-22	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42585432	42585432	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:42585432G>A	ENST00000600245.1	+	2	3329	c.2674G>A	c.(2674-2676)Gtc>Atc	p.V892I	ZNF574_ENST00000359044.4_Missense_Mutation_p.V892I|ZNF574_ENST00000222339.7_Missense_Mutation_p.V982I			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCTGAGGGGGTCCAGATCAG	0.607000													6	81					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123556329	123556329	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:123556329G>T	ENST00000422452.2	-	24	4327	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.L1415M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGCTGACCAGGAAATGATCG	0.527000													19	125					6.94344e-10	1.05688e-09	1	1	0
TSSC1	7260	broad.mit.edu	37	2	3200658	3200658	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:3200658C>A	ENST00000398659.4	-	7	868	c.728G>T	c.(727-729)aGc>aTc	p.S243I	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.S216I			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	216							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGACCTCATGCTCCGGGTGTC	0.627000													3	16					0.115264	0.118008	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101834385	101834385	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:101834385G>T	ENST00000506729.1	-	1	335	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P55Q|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P55Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P55Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P55Q			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	55						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAAGGCCTCTGGAAGTAGTCT	0.572000													23	255					1.64293e-13	2.77044e-13	1	1	0
CILP2	148113	broad.mit.edu	37	19	19654200	19654200	+	Missense_Mutation	SNP	G	G	T	rs141923821		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:19654200G>T	ENST00000586018.1	+	7	1241	c.1139G>T	c.(1138-1140)cGg>cTg	p.R380L	CILP2_ENST00000291495.4_Missense_Mutation_p.R374L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	374						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCACTGCCCGGCTCACTGTA	0.652000													15	56					3.45872e-05	4.35292e-05	1	1	0
SSTR3	6753	broad.mit.edu	37	22	37602592	37602592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:37602592G>T	ENST00000328544.3	-	2	1784	c.1251C>A	c.(1249-1251)taC>taA	p.Y417*	SSTR3_ENST00000402501.1_Nonsense_Mutation_p.Y417*	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	417					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCCTACAGGTAGCTGATGC	0.647000													8	50					0.000157383	0.000186689	1	1	0
TBATA	219793	broad.mit.edu	37	10	72536994	72536994	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:72536994C>A	ENST00000299290.1	-	7	994	c.605G>T	c.(604-606)cGc>cTc	p.R202L	TBATA_ENST00000456372.2_Missense_Mutation_p.R202L	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GTGAGATCTGCGGCGGCCGAC	0.627000													7	63					0.0293803	0.030751	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412520	105412520	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:105412520G>A	ENST00000333244.5	-	7	9387	c.9268C>T	c.(9268-9270)Ctg>Ttg	p.L3090L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3090						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTTTCAGGTCCAGCTTG	0.612000													9	197					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113303862	113303862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:113303862C>A	ENST00000297405.5	-	56	9095	c.8851G>T	c.(8851-8853)Gga>Tga	p.G2951*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G2911*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G2881*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G2782*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2951	Sushi 20.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAAAATTTCCATGTTCTATT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	138					2.61681e-11	4.20647e-11	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887191	25887191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:25887191C>A	ENST00000376351.3	+	11	2995	c.2636C>A	c.(2635-2637)tCa>tAa	p.S879*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	879						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTGTGCAAGTCAGCAAGCGCT	0.498000													26	131					1.64293e-13	2.77044e-13	1	1	0
PHF1	5252	broad.mit.edu	37	6	33383636	33383636	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:33383636G>A	ENST00000374516.3	+	15	1736	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	PHF1_ENST00000374512.3_Silent_p.V453V	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTC	0.532000													15	173					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112552	112552	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:112552G>A	ENST00000262316.6	-	7	1079	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R313C	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	313					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGGTGGCTGCGCTCAAGCTCG	0.667000													12	116					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27568866	27568866	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:27568866G>C	ENST00000544915.1	+	14	1768	c.1549G>C	c.(1549-1551)Gta>Cta	p.V517L	ARNTL2_ENST00000546179.1_Missense_Mutation_p.V514L|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.V537L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.V551L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.V503L|ARNTL2_ENST00000542388.1_Missense_Mutation_p.V466L|ARNTL2_ENST00000395901.2_Missense_Mutation_p.V514L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	551					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TACTCATACTGTAAACTGCAG	0.269000													5	66					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896564	896564	+	Silent	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:896564C>G	ENST00000381922.3	-	1	396	c.294G>C	c.(292-294)acG>acC	p.T98T	ANGPT4_ENST00000546022.1_Silent_p.T98T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	98					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCAGCCACTGCGTGTTGTTCT	0.602000													22	120					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75677224	75677224	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:75677224C>A	ENST00000370855.5	-	23	2089	c.1976G>T	c.(1975-1977)gGg>gTg	p.G659V	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G659V|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G529V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	659						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGGTAAGACCCAAAAATGAC	0.388000													5	77					0.00307968	0.00343221	1	1	0
NEB	4703	broad.mit.edu	37	2	152548389	152548389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:152548389G>A	ENST00000427231.2	-	23	2402	c.2200C>T	c.(2200-2202)Cag>Tag	p.Q734*	NEB_ENST00000172853.10_Nonsense_Mutation_p.Q734*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q734*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q734*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q734*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q734*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	734					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTACACTGGTCCAGCTTC	0.343000													5	14					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772153	99772153	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:99772153C>A	ENST00000370185.3	+	7	2376	c.1879C>A	c.(1879-1881)Cca>Aca	p.P627T	LPPR4_ENST00000370184.1_Missense_Mutation_p.P469T|LPPR4_ENST00000457765.1_Missense_Mutation_p.P569T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		627							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAGGCTCACCCAGAGAACAA	0.557000													7	39					0.0381472	0.0396854	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95918632	95918632	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:95918632A>G	ENST00000334258.5	-	6	1240	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	SYNE3_ENST00000553340.1_Missense_Mutation_p.L409P|SYNE3_ENST00000557275.1_Missense_Mutation_p.L409P|SYNE3_ENST00000554873.1_Missense_Mutation_p.L166P	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GAGTGGCTTCAGGTTGTGAGG	0.612000											OREG0022900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	62					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909927	28909927	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:28909927G>T	ENST00000257192.4	+	5	657	c.445G>T	c.(445-447)Gat>Tat	p.D149Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	149	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAGGGTTTTGGATATAAATGA	0.398000													5	81					0.014758	0.015799	1	1	0
CNGA4	1262	broad.mit.edu	37	11	6260715	6260715	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:6260715G>T	ENST00000379936.2	+	2	279	c.164_splice	c.e2+1	p.R55_splice	CNGA4_ENST00000533426.1_Splice_Site_p.R15_splice	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	55					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCGTGTGCAGGTATGGCAGC	0.537000													16	113					6.72482e-11	1.07431e-10	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24839564	24839564	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:24839564C>A	ENST00000413692.2	+	3	1293	c.1149C>A	c.(1147-1149)gcC>gcA	p.A383A	NFATC4_ENST00000555453.1_Silent_p.A308A|NFATC4_ENST00000553469.1_Silent_p.A352A|NFATC4_ENST00000556169.1_Silent_p.A308A|NFATC4_ENST00000539237.2_Silent_p.A352A|NFATC4_ENST00000250373.4_Silent_p.A320A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Silent_p.A352A|NFATC4_ENST00000554661.1_Silent_p.A250A|NFATC4_ENST00000554050.1_Silent_p.A320A|NFATC4_ENST00000554966.1_Silent_p.A333A|NFATC4_ENST00000555590.1_Silent_p.A333A|NFATC4_ENST00000422617.3_Silent_p.A308A|NFATC4_ENST00000554344.1_Silent_p.A250A|NFATC4_ENST00000553879.1_Silent_p.A250A|NFATC4_ENST00000554591.1_Silent_p.A383A|NFATC4_ENST00000557451.1_Silent_p.A250A|NFATC4_ENST00000553708.1_Silent_p.A320A|NFATC4_ENST00000424781.2_Silent_p.A333A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	320					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATGTGGGGGCCCCACCAGCTG	0.667000													11	48					9.70103e-10	1.47227e-09	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109694116	109694116	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:109694116C>A	ENST00000465301.2	+	3	517	c.271C>A	c.(271-273)Cta>Ata	p.L91I	RGAG1_ENST00000540313.1_Missense_Mutation_p.L91I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	91										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCCCACCCCTAATGCCAGC	0.542000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	317					6.32553e-13	1.04951e-12	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22710824	22710824	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:22710824G>T	ENST00000400546.1	+	8	1263	c.1014G>T	c.(1012-1014)gtG>gtT	p.V338V	NCAM2_ENST00000535285.1_Silent_p.V363V|NCAM2_ENST00000284894.7_Silent_p.V196V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	338	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAGAGCTGTGGATGGCTTCA	0.383000													10	38					0.000442599	0.000517871	1	1	0
MS4A6E	245802	broad.mit.edu	37	11	60105415	60105415	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:60105415C>A	ENST00000300182.4	+	2	414	c.349C>A	c.(349-351)Ctg>Atg	p.L117M		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	117						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CAAAGCCAGTCTGGCTGTAAG	0.363000													9	73					1.33987e-11	2.17413e-11	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21191717	21191717	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:21191717C>A	ENST00000602326.1	-	19	3094	c.2511G>T	c.(2509-2511)gtG>gtT	p.V837V	EIF4G3_ENST00000536266.1_Silent_p.V435V|EIF4G3_ENST00000400422.1_Silent_p.V831V|EIF4G3_ENST00000374935.3_Silent_p.V551V|EIF4G3_ENST00000264211.8_Silent_p.V831V|EIF4G3_ENST00000537738.1_Silent_p.V321V|EIF4G3_ENST00000374937.3_Silent_p.V837V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	831	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCGGAAATTCACTGTGTTAC	0.383000													12	70					1.36491e-13	2.31676e-13	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155003853	155003853	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:155003853C>A	ENST00000302805.2	+	2	751	c.320C>A	c.(319-321)cCt>cAt	p.P107H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	107					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACACCCTCACCTTCAGGCCAA	0.562000													18	95					3.41278e-10	5.27244e-10	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176018311	176018311	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:176018311T>A	ENST00000510636.1	+	29	3914	c.3640T>A	c.(3640-3642)Tac>Aac	p.Y1214N	CDHR2_ENST00000506348.1_Missense_Mutation_p.Y1214N|CDHR2_ENST00000261944.5_Missense_Mutation_p.Y1214N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1214					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACTAACATGTACAACACTGA	0.592000													8	46					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354144	103354144	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:103354144G>T	ENST00000358392.2	-	62	4950	c.4633C>A	c.(4633-4635)Cct>Act	p.P1545T	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1533T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1417T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1494T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1533	Nonhelical region (C-terminal).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAGACCCAGGAGGCCCTGGA	0.418000													11	53					4.68919e-08	6.72117e-08	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7320633	7320633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:7320633G>T	ENST00000302926.2	+	7	2096	c.2023G>T	c.(2023-2025)Gag>Tag	p.E675*	NLGN2_ENST00000575301.1_Nonsense_Mutation_p.E675*	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	675					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTACTCCACGGAGCTGAGCGT	0.716000													5	17					8.12818e-05	9.7994e-05	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344077	38344077	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:38344077C>T	ENST00000374618.3	+	5	1203	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.S348L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S341L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S341L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	341						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGGGAGAAGTCACATCTCACT	0.403000													12	130					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152088940	152088940	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:152088940C>A	ENST00000535861.1	+	8	647	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF185_ENST00000370268.4_Missense_Mutation_p.A200D|ZNF185_ENST00000324823.6_Missense_Mutation_p.A65D|ZNF185_ENST00000318504.7_Missense_Mutation_p.A200D|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000370270.1_Missense_Mutation_p.A60D|ZNF185_ENST00000539731.1_Missense_Mutation_p.A200D|ZNF185_ENST00000449285.2_Missense_Mutation_p.A200D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	200						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCAGCGGCCAAGAAGAGC	0.612000													8	33					0.27861	0.28024	1	1	0
VMP1	81671	broad.mit.edu	37	17	57842496	57842496	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:57842496G>T	ENST00000262291.4	+	6	889	c.579G>T	c.(577-579)atG>atT	p.M193I	VMP1_ENST00000537567.1_Missense_Mutation_p.M59I|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_Start_Codon_SNP_p.M1I|VMP1_ENST00000536180.1_Missense_Mutation_p.M96I	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	193					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		p.M193I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AAGCCTGCATGTGGGTAAGAT	0.373000													7	70					0.00198382	0.00223993	1	1	0
PCM1	5108	broad.mit.edu	37	8	17796448	17796448	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:17796448A>G	ENST00000325083.8	+	5	981	c.542A>G	c.(541-543)aAt>aGt	p.N181S	PCM1_ENST00000518537.1_Missense_Mutation_p.N181S|PCM1_ENST00000524226.1_Missense_Mutation_p.N181S|PCM1_ENST00000519253.1_Missense_Mutation_p.N181S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	181					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCTTTAAGTAATGACCTCTTG	0.423000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								10	50					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152031267	152031267	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:152031267G>T	ENST00000370274.3	+	5	736	c.543_splice	c.e5+1	p.R181_splice	NSDHL_ENST00000440023.1_Splice_Site_p.R181_splice	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	181					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TTACAGGAGAGGGTATGTACC	0.418000													15	114					6.31663e-08	8.92981e-08	1	1	0
MORC4	79710	broad.mit.edu	37	X	106228379	106228379	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:106228379A>T	ENST00000355610.4	-	5	895	c.621T>A	c.(619-621)ttT>ttA	p.F207L	MORC4_ENST00000255495.7_Missense_Mutation_p.F207L|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	207							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATGGCATCAAACTGGGCCA	0.408000													7	153					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451500	38451500	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:38451500C>A	ENST00000322350.5	+	19	2973	c.2627C>A	c.(2626-2628)cCc>cAc	p.P876H	EGFLAM_ENST00000336740.6_Missense_Mutation_p.P642H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.P884H|EGFLAM_ENST00000506135.1_Missense_Mutation_p.P19H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.P19H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.P19H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.P242H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	884	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAGACAGCCCCATGAGACCC	0.522000													10	168					1.58986e-06	2.11436e-06	1	1	0
SCARA5	286133	broad.mit.edu	37	8	27764669	27764669	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:27764669G>T	ENST00000354914.3	-	6	1577	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000518030.1_Missense_Mutation_p.F321L|SCARA5_ENST00000380385.2_Missense_Mutation_p.F139L|SCARA5_ENST00000301906.4_Missense_Mutation_p.F321L|SCARA5_ENST00000524352.1_Missense_Mutation_p.F364L	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	364	Collagen-like.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TATTACCTTTGAACCCACGCA	0.607000													20	101					3.62473e-10	5.56655e-10	1	1	0
OR2W1	26692	broad.mit.edu	37	6	29012573	29012573	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:29012573C>A	ENST00000377175.1	-	1	444	c.380G>T	c.(379-381)tGt>tTt	p.C127F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CAAGGGCTTACATATAGCTGT	0.383000													10	70					2.17888e-05	2.75564e-05	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80661056	80661056	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:80661056G>T	ENST00000458043.2	+	21	2393	c.2387G>T	c.(2386-2388)aGg>aTg	p.R796M	OTOGL_ENST00000547103.1_Missense_Mutation_p.R796M	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTCATTATAGGGGCAGTGTT	0.393000													4	10					0.00909568	0.00986002	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39752135	39752135	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:39752135C>G	ENST00000395670.3	-	8	1479	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	KIF21A_ENST00000361418.5_Missense_Mutation_p.D354H|KIF21A_ENST00000541463.2_Missense_Mutation_p.D354H|KIF21A_ENST00000361961.3_Missense_Mutation_p.D354H|KIF21A_ENST00000544797.2_Missense_Mutation_p.D354H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	354					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCCATAAAGTCTCTGTCTGAA	0.368000													19	201					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142251120	142251120	+	RNA	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:142251120C>A	ENST00000390360.3	-	0	38																											CCACACAGCACAGGAGCCTGA	0.542000													26	71					1.17739e-12	1.94101e-12	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135750262	135750262	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:135750262C>A	ENST00000250617.6	-	22	3462	c.2257G>T	c.(2257-2259)Gtg>Ttg	p.V753L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V599L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V599L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V626L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	753					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGCCTCCGCACCAGCTTTTCT	0.433000													19	171					5.35267e-07	7.3262e-07	1	1	0
PSEN2	5664	broad.mit.edu	37	1	227083161	227083161	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:227083161A>C	ENST00000366782.1	+	13	1827	c.1327A>C	c.(1327-1329)Aag>Cag	p.K443Q	PSEN2_ENST00000472139.2_Missense_Mutation_p.K266Q|PSEN2_ENST00000422240.2_Missense_Mutation_p.K409Q|PSEN2_ENST00000366783.3_Missense_Mutation_p.K410Q|PSEN2_ENST00000391872.2_Missense_Mutation_p.K443Q|PSEN2_ENST00000340188.4_Missense_Mutation_p.K377Q|PSEN2_ENST00000471728.1_3'UTR			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	410				NLVRPFMDTLASHQLYI -> RKHSRFIQMN (in Ref. 3).	amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGCTGTGTTCAAGAAGGCGCT	0.607000													11	31					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646129	71646129	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:71646129G>A	ENST00000408926.3	+	5	1126	c.592G>A	c.(592-594)Gga>Aga	p.G198R	XKR9_ENST00000520030.1_Missense_Mutation_p.G198R|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	198						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GCTTCTTAATGGATTATGTCC	0.353000													11	60					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902396	51902396	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:51902396G>T	ENST00000268919.4	+	1	2158	c.2002G>T	c.(2002-2004)Gtg>Ttg	p.V668L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	668					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGACCTCCACGTGAAGAGCAA	0.438000													6	53					0.217242	0.219368	1	1	0
MGAM	8972	broad.mit.edu	37	7	141724919	141724919	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:141724919G>A	ENST00000475668.2	+	8	1006	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	MGAM_ENST00000549489.2_Missense_Mutation_p.G318R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	318	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTGTCCTTTGGGGTGTTTCT	0.383000													15	80					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69752385	69752385	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:69752385A>T	ENST00000395198.3	-	10	1371	c.1124T>A	c.(1123-1125)tTt>tAt	p.F375Y	HERC4_ENST00000373700.4_Missense_Mutation_p.F375Y|HERC4_ENST00000412272.2_Missense_Mutation_p.F375Y|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.F265Y	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	375					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GTAATGTGAAAAGCTTTGATC	0.259000													5	17					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325402	31325402	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:31325402G>C	ENST00000269197.5	+	12	5590	c.5590G>C	c.(5590-5592)Ggc>Cgc	p.G1864R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCAGTTCCGGCATCAGTCA	0.468000													20	264					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64864036	64864036	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:64864036G>T	ENST00000328747.7	+	4	1208	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	ZNF92_ENST00000450302.2_Missense_Mutation_p.G268W|ZNF92_ENST00000431504.1_Missense_Mutation_p.G261W|ZNF92_ENST00000357512.2_Missense_Mutation_p.G305W	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AATCCATACTGGGGAAAAACC	0.333000													10	36					2.52707e-12	4.15276e-12	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959311	117959311	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:117959311C>T	ENST00000310164.2	+	4	611	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGTCTCGGTCCTATAATGGCC	0.572000													8	87					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757848	5757848	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:5757848C>A	ENST00000317121.3	+	1	168	c.102C>A	c.(100-102)caC>caA	p.H34Q	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGGCAACACTGGCTATCTC	0.498000													8	58					3.09899e-07	4.28707e-07	1	1	0
ANK2	287	broad.mit.edu	37	4	114199086	114199086	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:114199086G>T	ENST00000357077.4	+	16	1830	c.1777G>T	c.(1777-1779)Ggg>Tgg	p.G593W	ANK2_ENST00000506722.1_Missense_Mutation_p.G572W|ANK2_ENST00000264366.6_Missense_Mutation_p.G593W|ANK2_ENST00000394537.3_Missense_Mutation_p.G593W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	593					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGATTCTGCAGGGAAGGTAAA	0.418000													7	40					0.0293803	0.030751	1	1	0
DSG1	1828	broad.mit.edu	37	18	28935062	28935062	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:28935062C>A	ENST00000257192.4	+	15	3115	c.2903C>A	c.(2902-2904)aCt>aAt	p.T968N	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.T327N|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	968					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGTGGCACCACTGGGATCAGC	0.572000													19	166					1.78486e-19	3.24292e-19	1	1	0
ATF6	22926	broad.mit.edu	37	1	161762105	161762105	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:161762105G>T	ENST00000367942.3	+	6	743	c.676G>T	c.(676-678)Gca>Tca	p.A226S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	226					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTTACAACCTGCACCCACTAA	0.383000													59	141					7.47603e-22	1.36312e-21	1	1	0
DNM3	26052	broad.mit.edu	37	1	172007534	172007534	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:172007534C>A	ENST00000358155.4	+	7	1101	c.925C>A	c.(925-927)Cat>Aat	p.H309N	DNM3_ENST00000367733.2_Missense_Mutation_p.H309N|DNM3_ENST00000355305.5_Missense_Mutation_p.H309N|DNM3_ENST00000367731.1_Missense_Mutation_p.H309N|DNM3_ENST00000520906.1_Missense_Mutation_p.H309N	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	309					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCATAGAACATGAAGTAGA	0.428000													15	90					0.00244969	0.00275992	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26213004	26213004	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:26213004G>T	ENST00000379034.1	+	2	1190	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	347	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACCGGCAGGTGTGCAACAGTG	0.493000													17	124					7.87624e-14	1.34574e-13	1	1	0
NEFH	4744	broad.mit.edu	37	22	29885855	29885855	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:29885855A>G	ENST00000310624.6	+	4	2259	c.2226A>G	c.(2224-2226)gaA>gaG	p.E742E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	748	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGTGAAGGAAGAAGCTAAGT	0.547000													16	113					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927174	130927174	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:130927174C>T	ENST00000261655.4	-	8	835	c.672G>A	c.(670-672)gtG>gtA	p.V224V	RIMBP2_ENST00000535703.1_Silent_p.V132V|RIMBP2_ENST00000536002.1_Silent_p.V132V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	224	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGTTGGAGGGCACCAGACCCC	0.592000													4	59					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21959512	21959512	+	Silent	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:21959512T>C	ENST00000377072.3	+	10	1278	c.930T>C	c.(928-930)acT>acC	p.T310T	MLLT10_ENST00000446906.2_Silent_p.T310T|MLLT10_ENST00000377059.3_Silent_p.T310T|MLLT10_ENST00000307729.7_Silent_p.T310T	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	310					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCAGAGACTAGAGGGTCAG	0.463000			T	"""MLL, PICALM, CDK6"""	AL								9	76					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90992861	90992861	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:90992861A>G	ENST00000268182.5	+	11	1272	c.1148A>G	c.(1147-1149)cAg>cGg	p.Q383R	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	383					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGTGCTGCCCAGCAATATCAG	0.458000													4	19					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815037	106815037	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:106815037C>G	ENST00000407775.2	+	8	2977	c.2727C>G	c.(2725-2727)taC>taG	p.Y909*	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Y640*|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Y777*|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Y777*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	909					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATGTCAGCTACGAAAGAAGCA	0.468000													10	23					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34132240	34132240	+	Silent	SNP	G	G	A	rs61751893		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:34132240G>A	ENST00000331923.4	-	6	1230	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Silent_p.Y347Y	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		AGGATGAGCCGTAAGGCATTG	0.403000													11	112					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266586	113266586	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:113266586C>A	ENST00000369630.3	+	4	502	c.285C>A	c.(283-285)caC>caA	p.H95Q	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCTGCCCACTGTGCTCGTA	0.617000													7	47					8.12818e-05	9.7994e-05	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961618	34961618	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:34961618C>A	ENST00000329357.5	+	1	706	c.670C>A	c.(670-672)Cgc>Agc	p.R224S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	224	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCAGTCTCCGCCCAGAGCC	0.657000													15	86					1.3612e-06	1.81964e-06	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811596	23811596	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:23811596G>T	ENST00000314520.3	+	1	1143	c.667G>T	c.(667-669)Gct>Tct	p.A223S	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	223						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCCCCCGAGGCTCCTCTACA	0.592000													5	36					0.00116845	0.00133982	1	1	0
EPM2A	7957	broad.mit.edu	37	6	145956520	145956520	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:145956520C>A	ENST00000367519.3	-	3	1104	c.579G>T	c.(577-579)caG>caT	p.Q193H	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	193					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CCCATTCAGTCTGGAAATTCA	0.448000													17	124					6.49762e-13	1.07461e-12	1	1	0
ATG7	10533	broad.mit.edu	37	3	11400018	11400018	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:11400018G>T	ENST00000354449.3	+	13	1436	c.1411G>T	c.(1411-1413)Gtc>Ttc	p.V471F	ATG7_ENST00000446450.2_Missense_Mutation_p.V432F|ATG7_ENST00000354956.5_Missense_Mutation_p.V471F	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	471			V -> A (in dbSNP:rs36117895).		autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CCATGATGTCGTCTTCCTATT	0.517000													11	80					3.86212e-05	4.77903e-05	1	1	0
ACACB	32	broad.mit.edu	37	12	109613747	109613747	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:109613747G>A	ENST00000338432.7	+	8	1347	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ACACB_ENST00000377848.3_Missense_Mutation_p.E410K|ACACB_ENST00000377854.5_Missense_Mutation_p.E410K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	410	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTGACAGTGGAGTGGACAGA	0.498000													6	63					0	0	1	0	0
ZNF740	283337	broad.mit.edu	37	12	53579215	53579215	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:53579215T>A	ENST00000416904.3	+	4	649	c.204T>A	c.(202-204)gaT>gaA	p.D68E		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						GCAAAGATGATGACAGCTTGT	0.438000													3	32					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097165	119097165	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:119097165C>G	ENST00000328252.3	+	13	3792	c.3423C>G	c.(3421-3423)aaC>aaG	p.N1141K	PAPPA_ENST00000534838.1_Missense_Mutation_p.N179K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1141					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTGCAGGAACAATCCCCTGA	0.632000													9	42					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143922575	143922575	+	Missense_Mutation	SNP	G	G	C	rs147246218		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:143922575G>C	ENST00000220940.1	+	3	205	c.115G>C	c.(115-117)Gac>Cac	p.D39H		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	39	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGTCATAAATGACTTCAACTG	0.448000													12	129					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019971	20019971	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:20019971C>G	ENST00000551509.1	-	1	301	c.250G>C	c.(250-252)Gga>Cga	p.G84R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	84										endometrium(4)|kidney(1)|lung(4)	9						TCGTGGTCTCCAGAAGTGCCC	0.592000													19	504					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709790	154709790	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:154709790G>T	ENST00000274063.4	-	1	482	c.198C>A	c.(196-198)caC>caA	p.H66Q		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	66	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCATGGTCTCGTGGCCCAGCA	0.612000													25	132					4.26978e-12	6.97217e-12	1	1	0
PRR16	51334	broad.mit.edu	37	5	120021757	120021757	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:120021757T>C	ENST00000379551.2	+	3	556	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	PRR16_ENST00000505123.1_Missense_Mutation_p.S20P|PRR16_ENST00000407149.2_Missense_Mutation_p.S90P|PRR16_ENST00000446965.1_Missense_Mutation_p.S20P	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	90										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAACAGCCTCCAGCCTAGA	0.532000													8	89					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426976	111426976	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:111426976G>A	ENST00000393934.3	+	2	937	c.367G>A	c.(367-369)Gat>Aat	p.D123N	PLCXD2_ENST00000477665.1_Missense_Mutation_p.D123N	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	123	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CAAACCAGGGGATGCCGACCA	0.512000													10	100					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627703	170627703	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:170627703C>T	ENST00000476287.1	+	2	1333	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	FAM120B_ENST00000537664.1_Missense_Mutation_p.P432S|FAM120B_ENST00000540480.1_Missense_Mutation_p.P421S|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	409					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGACCCTGAACCCAGGCAAGA	0.517000													17	361					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117527114	117527114	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:117527114C>A	ENST00000254029.3	+	4	1101	c.706C>A	c.(706-708)Cca>Aca	p.P236T	WDR44_ENST00000371825.3_Missense_Mutation_p.P236T|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.P211T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	236	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGCACGCCCACCTCCTCC	0.522000													35	198					2.68265e-12	4.39444e-12	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165239	123165239	+	Silent	SNP	G	G	A	rs141004029	byFrequency	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:123165239G>A	ENST00000349780.4	-	34	5331	c.5152C>T	c.(5152-5154)Ctg>Ttg	p.L1718L	CDK5RAP2_ENST00000359309.3_Silent_p.L1677L|CDK5RAP2_ENST00000360190.4_Silent_p.L1639L|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Silent_p.L1686L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1718					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTGGCCCACAGGTGGTGGCCA	0.597000													8	88					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11103021	11103021	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:11103021A>T	ENST00000400897.3	-	6	815	c.800T>A	c.(799-801)aTt>aAt	p.I267N		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	267	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTTTGTTTCAATCCTGTGGGG	0.502000													10	89					0	0	1	0	0
MTCP1	4515	broad.mit.edu	37	X	154293986	154293986	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:154293986T>A	ENST00000369476.3	-	3	763	c.184A>T	c.(184-186)Acc>Tcc	p.T62S	MTCP1_ENST00000482244.1_5'UTR|MTCP1_ENST00000362018.2_Missense_Mutation_p.T62S|CMC4_ENST00000369484.3_Intron	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	62					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTGGGAGGTAAGAAGGTGA	0.488000			T	TRA@	T cell prolymphocytic leukemia								11	108					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642667	156642667	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:156642667G>T	ENST00000368223.3	-	4	1445	c.1313C>A	c.(1312-1314)gCc>gAc	p.A438D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	438	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCTGGCAGGAATGGC	0.662000													18	66					5.35267e-07	7.3262e-07	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521045	39521045	+	Missense_Mutation	SNP	C	C	G	rs61741660	byFrequency	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:39521045C>G	ENST00000251646.3	-	6	1132	c.1083G>C	c.(1081-1083)gaG>gaC	p.E361D		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	361	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGTCCTCGCTCTCCAGCAGGC	0.567000													14	108					0	0	1	0	0
MRGBP	55257	broad.mit.edu	37	20	61430922	61430922	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:61430922G>T	ENST00000370487.3	+	5	613	c.542G>T	c.(541-543)cGg>cTg	p.R181L		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		AAGCGCAGCCGGGTCACCGAC	0.582000													16	80					6.94344e-10	1.05688e-09	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40124835	40124835	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:40124835G>T	ENST00000235628.1	-	6	1064	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	355					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGTCCGCCGGGGTGTCTGTG	0.582000													11	68					3.07112e-06	3.97167e-06	1	1	0
PFKP	5214	broad.mit.edu	37	10	3155606	3155606	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:3155606G>C	ENST00000381075.2	+	15	1467	c.1243G>C	c.(1243-1245)Gct>Cct	p.A415P	PFKP_ENST00000381125.4_Missense_Mutation_p.A423P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	423					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGCACCCGCGGCTGGGATGAA	0.607000													9	40					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053648	94053648	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:94053648G>T	ENST00000297268.6	+	41	3037	c.2565_splice	c.e41-1	p.G856_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	856			G -> R (in OI3).|G -> V (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCTATTTAGGGACCTCCTGG	0.478000										HNSCC(75;0.22)			11	66					4.3838e-07	6.03211e-07	1	1	0
DYSF	8291	broad.mit.edu	37	2	71891415	71891415	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:71891415G>C	ENST00000258104.3	+	45	5181	c.4904G>C	c.(4903-4905)tGc>tCc	p.C1635S	DYSF_ENST00000409651.1_Missense_Mutation_p.C1667S|DYSF_ENST00000410041.1_Missense_Mutation_p.C1653S|DYSF_ENST00000410020.3_Missense_Mutation_p.C1674S|DYSF_ENST00000409762.1_Missense_Mutation_p.C1652S|DYSF_ENST00000429174.2_Missense_Mutation_p.C1656S|DYSF_ENST00000409582.3_Missense_Mutation_p.C1673S|DYSF_ENST00000413539.2_Missense_Mutation_p.C1666S|DYSF_ENST00000409744.1_Missense_Mutation_p.C1643S|DYSF_ENST00000394120.2_Missense_Mutation_p.C1636S|DYSF_ENST00000409366.1_Missense_Mutation_p.C1657S|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1635	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTGACCTGCACTCTGCCT	0.567000													14	53					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198441	58198441	+	Silent	SNP	T	T	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:58198441T>G	ENST00000282296.5	+	3	983	c.798T>G	c.(796-798)ctT>ctG	p.L266L	AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Silent_p.L250L	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAACACACTTGTTCAGCACC	0.418000													35	90					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18675895	18675895	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:18675895C>A	ENST00000380548.4	+	10	1465	c.1126C>A	c.(1126-1128)Ccc>Acc	p.P376T	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P376T|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P376T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	376	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCTACCATCCCCTTCCTCG	0.368000													5	89					3.59834e-05	4.50665e-05	1	1	0
BAZ1B	9031	broad.mit.edu	37	7	72892701	72892701	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:72892701C>G	ENST00000339594.4	-	7	1428	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E364Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	364	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCTAGATGTTCTTCAGGAGAT	0.423000													9	87					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142445289	142445289	+	RNA	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:142445289G>T	ENST00000606664.1	+	0	645				MROH5_ENST00000430863.1_RNA																							GTGCAGAAGAGGGTGTGCAGT	0.672000													9	32					7.48243e-07	1.01072e-06	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41836245	41836245	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:41836245G>A	ENST00000396930.3	-	7	1501	c.958C>T	c.(958-960)Cta>Tta	p.L320L	KAT6A_ENST00000265713.2_Silent_p.L320L|KAT6A_ENST00000485568.1_Silent_p.L320L|KAT6A_ENST00000406337.1_Silent_p.L320L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	320	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TTCTTTTGTAGAAGTTTTCGT	0.353000													31	186					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031908	94031908	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:94031908G>T	ENST00000282020.4	+	4	797	c.539G>T	c.(538-540)gGa>gTa	p.G180V	GRID2_ENST00000510992.1_Missense_Mutation_p.G85V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	180					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GATATCCGTGGAATACAGGAG	0.373000													28	127					1.13719e-10	1.78356e-10	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102250470	102250470	+	Silent	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:102250470T>C	ENST00000370345.3	-	20	2740	c.2643A>G	c.(2641-2643)gtA>gtG	p.V881V		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	881	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACCAGGCCTTACCCCAGGGC	0.552000													8	37					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377366	86377366	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:86377366G>C	ENST00000604798.1	-	7	1434	c.230C>G	c.(229-231)tCt>tGt	p.S77C	MGAT4C_ENST00000552435.2_Missense_Mutation_p.S77C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.S77C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.S77C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.S106C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.S77C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.S77C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	77					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGAGAAATTAGATAAATCCTT	0.348000													12	135					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414138	48414138	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:48414138C>T	ENST00000249598.1	-	2	889	c.730G>A	c.(730-732)Gtc>Atc	p.V244I		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	244					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTGGGGGGACACTGATGTCC	0.572000													13	57					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063254	17063254	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:17063254A>G	ENST00000262096.8	+	7	1262	c.567A>G	c.(565-567)acA>acG	p.T189T		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	189						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTGCGGCAACAGATTTACAGT	0.308000													14	106					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4693834	4693834	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:4693834G>C	ENST00000354582.6	+	11	1233	c.883G>C	c.(883-885)Gga>Cga	p.G295R	ITPR1_ENST00000443694.2_Missense_Mutation_p.G295R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G295R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G295R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G295R|ITPR1_ENST00000544951.1_Missense_Mutation_p.G295R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G295R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	295	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATGTCGGGGCGGAGCAGGGTA	0.493000													3	27					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194147849	194147849	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:194147849C>A	ENST00000439040.1	-	29	3871	c.3080G>T	c.(3079-3081)tGg>tTg	p.W1027L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.W1027L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTGTTTGACCCAAAAAAAACC	0.378000													12	55					1.05317e-09	1.58899e-09	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135803	156135803	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:156135803T>C	ENST00000329476.3	+	2	1201	c.712T>C	c.(712-714)Tcc>Ccc	p.S238P	NPY2R_ENST00000506608.1_Missense_Mutation_p.S238P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	238					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TATATCATTTTCCTACACTCG	0.438000													7	104					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122658312	122658312	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:122658312T>A	ENST00000195173.4	-	5	737	c.434A>T	c.(433-435)tAc>tTc	p.Y145F	SEMA5B_ENST00000451055.2_Missense_Mutation_p.Y199F|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Y145F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	145	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTGAAGAGGTAGTTCCTGTG	0.537000													6	51					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831287	47831287	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:47831287A>T	ENST00000359568.5	+	28	5407	c.5300A>T	c.(5299-5301)cAg>cTg	p.Q1767L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1767					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCGACAGTCAGGCTGGCAGT	0.622000													13	55					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39893285	39893285	+	Splice_Site	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:39893285A>G	ENST00000564288.1	+	62	17252	c.16476_splice	c.e62+1	p.K5492_splice	MACF1_ENST00000545844.1_Splice_Site_p.K3430_splice|MACF1_ENST00000567887.1_Splice_Site_p.K5529_splice|MACF1_ENST00000372915.3_Splice_Site_p.K5497_splice|MACF1_ENST00000317713.7_Splice_Site_p.K3430_splice|MACF1_ENST00000539005.1_Splice_Site_p.K3409_splice|MACF1_ENST00000361689.2_Splice_Site_p.K3430_splice|MACF1_ENST00000289893.4_Splice_Site_p.K3932_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5497					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTCGGCACAAGGTAGGGAGT	0.408000													8	117					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:170871076G>A	ENST00000392092.2	+	3	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	84	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q84Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602000													4	54					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309285	248309285	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:248309285C>A	ENST00000366476.1	+	1	836	c.836C>A	c.(835-837)aCc>aAc	p.T279N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTATTCTACACCATCCTCACT	0.517000													13	145					0.0167234	0.0178291	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34269550	34269550	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:34269550C>A	ENST00000346562.2	+	11	2015	c.1941C>A	c.(1939-1941)ccC>ccA	p.P647P	NPAS3_ENST00000356141.4_Silent_p.P679P|NPAS3_ENST00000551492.1_Silent_p.P684P|NPAS3_ENST00000548645.1_Silent_p.P649P|NPAS3_ENST00000357798.5_Silent_p.P666P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACGAGTCCCCCTACAGCATGA	0.637000													12	82					2.32078e-09	3.45108e-09	1	1	0
WNK1	65125	broad.mit.edu	37	12	968494	968494	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:968494G>T	ENST00000537687.1	+	6	2127	c.1484G>T	c.(1483-1485)gGa>gTa	p.G495V	WNK1_ENST00000315939.6_Missense_Mutation_p.G495V|WNK1_ENST00000535572.1_Missense_Mutation_p.G495V|WNK1_ENST00000530271.2_Missense_Mutation_p.G495V|WNK1_ENST00000340908.4_Missense_Mutation_p.G88V|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	495					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGATGATGGAGAAAAAATA	0.333000													11	80					3.86212e-05	4.77903e-05	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79199899	79199899	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:79199899G>T	ENST00000264895.6	+	10	1511		c.e10+1		FRAS1_ENST00000325942.6_Splice_Site|FRAS1_ENST00000264899.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGAGAATTTGTGAGTATCAG	0.318000													5	49					5.9392e-07	8.06481e-07	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542927	14542927	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:14542927C>T	ENST00000358970.5	-	1	218	c.219G>A	c.(217-219)agG>agA	p.R73R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	73										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCCGCTCCCCCTGCAGCAGG	0.562000													18	354					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423791	33423791	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:33423791G>T	ENST00000395064.2	+	2	1182	c.914G>T	c.(913-915)gGa>gTa	p.G305V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CAGCCTGGAGGAGCAAAGGAG	0.552000													9	89					0.0581538	0.0603769	1	1	0
SF3A1	10291	broad.mit.edu	37	22	30741167	30741167	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:30741167C>A	ENST00000215793.7	-	4	560	c.406G>T	c.(406-408)Gta>Tta	p.V136L	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	136					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCTTGGATTACTTGGGCTTGG	0.567000													7	61					0.00307968	0.00343221	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356284	42356284	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:42356284G>T	ENST00000554171.1	+	5	2888	c.456G>T	c.(454-456)ctG>ctT	p.L152L	LRFN5_ENST00000554120.1_Silent_p.L152L|LRFN5_ENST00000298119.4_Silent_p.L152L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	152						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGAGGAGCTGGATCTGTCCT	0.393000										HNSCC(30;0.082)			15	69					6.31663e-08	8.92981e-08	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89034705	89034705	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:89034705G>A	ENST00000237612.3	-	9	1489	c.943_splice	c.e9-1	p.A315_splice	ABCG2_ENST00000515655.1_Splice_Site_p.A315_splice	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	315				Missing (in Ref. 10; BAA92050).	cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GATCTCTGTGGCTTTGCAATC	0.393000													13	78					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109479896	109479896	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:109479896C>T	ENST00000369971.2	-	10	1315	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	CLCC1_ENST00000302500.4_Missense_Mutation_p.A275T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A346T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A346T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.A396T|CLCC1_ENST00000369968.2_Missense_Mutation_p.A211T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.A211T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A275T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	396						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGAAATCGGCATCACCTGCT	0.517000													6	88					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386758	89386758	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:89386758C>T	ENST00000439576.2	+	6	1304	c.930C>T	c.(928-930)ccC>ccT	p.P310P	ACAN_ENST00000559004.1_Silent_p.P310P|ACAN_ENST00000558207.1_Silent_p.P310P|ACAN_ENST00000352105.7_Silent_p.P310P|ACAN_ENST00000561243.1_Silent_p.P310P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	310					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCGCTACCCCATCTCCAAGG	0.706000													10	28					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8379322	8379322	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:8379322A>G	ENST00000332175.8	+	26	4768	c.3731A>G	c.(3730-3732)aAt>aGt	p.N1244S	PTPRM_ENST00000400060.4_Missense_Mutation_p.N1258S|PTPRM_ENST00000400053.4_Missense_Mutation_p.N1182S|PTPRM_ENST00000444013.1_Missense_Mutation_p.N1031S|PTPRM_ENST00000580170.1_Missense_Mutation_p.N1257S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1244	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACTACATCAATGCTGCCCTC	0.612000													5	59					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841936	94841936	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:94841936G>T	ENST00000357742.4	+	1	442	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	MCTP2_ENST00000543482.1_Missense_Mutation_p.G148W|MCTP2_ENST00000451018.3_Missense_Mutation_p.G148W|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	148					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCCCTTGGAGGGGATGCACC	0.532000													16	94					3.41278e-10	5.27244e-10	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102025835	102025835	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:102025835G>T	ENST00000549145.1	+	7	539	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	MYBPC1_ENST00000361685.2_Missense_Mutation_p.D159Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D159Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D134Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D134Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D120Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D108Y|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D122Y|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D134Y|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D134Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D134Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D134Y|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D121Y|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D35Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D134Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	134					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAAGGCCAAAGATAACTTTGC	0.408000													15	114					3.35478e-16	5.88797e-16	1	1	0
NRBP1	29959	broad.mit.edu	37	2	27657624	27657624	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:27657624C>T	ENST00000233557.3	+	7	1393	c.561C>T	c.(559-561)gcC>gcT	p.A187A	NRBP1_ENST00000379852.3_Silent_p.A187A|NRBP1_ENST00000379863.3_Silent_p.A187A			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	187	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TCCTCTCTGCCCTAAGGTAAG	0.458000													21	60					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116459	141116459	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:141116459G>T	ENST00000389484.3	-	73	12159	c.11188C>A	c.(11188-11190)Cta>Ata	p.L3730I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3730	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCGACTGTAGGCATATTCTG	0.383000										TSP Lung(27;0.18)			17	125					1.5739e-10	2.45357e-10	1	1	0
CDH23	64072	broad.mit.edu	37	10	73560449	73560449	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:73560449G>T	ENST00000224721.6	+	52	7439	c.7434G>T	c.(7432-7434)ctG>ctT	p.L2478L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L233L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2473	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTATATCCTGACTGCCTTGG	0.547000													5	43					0.0215528	0.0227894	1	1	0
TRIP10	9322	broad.mit.edu	37	19	6751279	6751279	+	Missense_Mutation	SNP	A	A	G	rs67734276	by1000genomes	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:6751279A>G	ENST00000596758.1	+	14	1724	c.1724A>G	c.(1723-1725)gAg>gGg	p.E575G	TRIP10_ENST00000313244.9_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_3'UTR|TRIP10_ENST00000313285.8_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	0	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGCCACGGGGAGCCCCAGGAC	0.627000													5	60					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141543	239141543	+	RNA	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:239141543C>A	ENST00000456601.1	+	0	906																											CAGGGTCGGGCAGTGGTTTTA	0.493000													7	70					0.000673444	0.000782651	1	1	0
ABCB7	22	broad.mit.edu	37	X	74273222	74273222	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:74273222C>T	ENST00000253577.3	-	16	2269	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	ABCB7_ENST00000339447.4_Missense_Mutation_p.G708R|ABCB7_ENST00000373394.3_Missense_Mutation_p.G748R	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	748					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAACAGTTTCCACAGCCTTTC	0.328000													8	98					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731561	94731561	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:94731561G>T	ENST00000335080.5	+	3	1857	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	KDM4D_ENST00000536741.1_Missense_Mutation_p.R342L	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	342					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGCAAGACCGGGCAGTTGTG	0.597000													12	52					0.000978159	0.00113422	1	1	0
METTL3	56339	broad.mit.edu	37	14	21971952	21971952	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:21971952G>A	ENST00000298717.4	-	2	324	c.173C>T	c.(172-174)tCt>tTt	p.S58F	METTL3_ENST00000538267.1_Missense_Mutation_p.S58F	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	58					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AGGGCCACCAGAGGTGGGTGC	0.493000													9	162					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503736	140503736	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:140503736C>G	ENST00000194152.1	+	1	2156	c.2156C>G	c.(2155-2157)gCc>gGc	p.A719G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGGGCGGCCTCGGTGGGT	0.677000													43	180					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346797	10346797	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:10346797G>T	ENST00000255381.2	-	40	5825	c.5715C>A	c.(5713-5715)caC>caA	p.H1905Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1905					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTCCAGCTCGTGCTGGAGCT	0.478000													12	95					6.40141e-05	7.80881e-05	1	1	0
OR2B6	26212	broad.mit.edu	37	6	27925506	27925506	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:27925506C>A	ENST00000244623.1	+	1	488	c.488C>A	c.(487-489)aCt>aAt	p.T163N		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTACCCTGACTCTCCAGCTG	0.483000													13	183					0.00010058	0.000120416	1	1	0
GNAT3	346562	broad.mit.edu	37	7	80141143	80141143	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:80141143C>A	ENST00000398291.3	-	1	193	c.100G>T	c.(100-102)Gta>Tta	p.V34L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	34					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						AGCAGCTTTACGGTTCTTGCA	0.368000													4	28					0.014758	0.015799	1	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64722527	64722527	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:64722527G>T	ENST00000338957.4	+	5	2016	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G639V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	639							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTAAGCAAGGCCCCCACAAA	0.552000													9	25					0.000274275	0.00032165	1	1	0
TTL	150465	broad.mit.edu	37	2	113251938	113251938	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:113251938C>T	ENST00000233336.5	+	3	646	c.455C>T	c.(454-456)tCa>tTa	p.S152L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	152	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCAAAGTCATCAGCCGGTGCC	0.423000			T	ETV6	ALL								5	28					0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65141690	65141690	+	Silent	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:65141690T>A	ENST00000258145.3	-	3	431	c.261A>T	c.(259-261)ccA>ccT	p.P87P	GNS_ENST00000418919.2_Silent_p.P31P|GNS_ENST00000543646.1_Silent_p.P119P|GNS_ENST00000542058.1_Silent_p.P67P	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	87						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGAGAGCACTTGGCACATACT	0.433000													7	79					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107815775	107815775	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:107815775G>A	ENST00000379028.3	-	28	3649	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V	NRCAM_ENST00000425651.2_Missense_Mutation_p.A1060V|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1060V|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1041V|NRCAM_ENST00000351718.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1060					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACCTTTGCCTGCACCTACATC	0.373000													4	4					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043765	77043765	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:77043765C>A	ENST00000339142.2	+	5	996	c.441C>A	c.(439-441)gcC>gcA	p.A147A	C1QTNF1_ENST00000583904.1_Silent_p.A147A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Silent_p.A147A|C1QTNF1_ENST00000580454.1_Silent_p.A147A|C1QTNF1_ENST00000580474.1_Silent_p.A147A|C1QTNF1_ENST00000579760.1_Silent_p.A147A|C1QTNF1_ENST00000578229.1_Silent_p.A65A|C1QTNF1_ENST00000392445.2_Silent_p.A147A|C1QTNF1_ENST00000354124.3_Silent_p.A157A|C1QTNF1_ENST00000311661.4_Silent_p.A65A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	147	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ACTACGCCGCCTTTTCGGTGG	0.612000													34	77					4.11147e-13	6.84361e-13	1	1	0
MATN4	8785	broad.mit.edu	37	20	43929751	43929751	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:43929751T>A	ENST00000537548.1	-	6	1124	c.880A>T	c.(880-882)Agc>Tgc	p.S294C	MATN4_ENST00000372751.4_Missense_Mutation_p.S145C|MATN4_ENST00000360607.5_Missense_Mutation_p.S253C|MATN4_ENST00000372756.1_Missense_Mutation_p.S294C|MATN4_ENST00000342716.4_Missense_Mutation_p.S294C|MATN4_ENST00000372753.1_Missense_Mutation_p.S145C|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.S335C			O95460	MATN4_HUMAN	matrilin 4	335						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCCTGACAGCTCCTCCCATCA	0.572000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	53					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226753	27226753	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:27226753C>G	ENST00000361720.5	-	1	204	c.181G>C	c.(181-183)Gct>Cct	p.A61P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	61						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GAGTTAGGAGCGGCCTGCGGA	0.622000													9	51					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133489414	133489414	+	Missense_Mutation	SNP	G	G	T	rs41296590		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:133489414G>T	ENST00000402696.3	+	14	2170	c.1685G>T	c.(1684-1686)gGg>gTg	p.G562V	TF_ENST00000264998.3_Missense_Mutation_p.G435V	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	562	Transferrin-like 2.		G -> V (in dbSNP:rs41296590).		cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CAGAACACTGGGGGTAAGTGC	0.498000													11	152					6.40141e-05	7.80881e-05	1	1	0
ZNF527	84503	broad.mit.edu	37	19	37879787	37879787	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:37879787G>A	ENST00000436120.2	+	5	943	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACGATGAATGTGGTGATGCC	0.373000													29	199					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091916	143091916	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:143091916C>A	ENST00000367603.2	-	5	4702	c.3960G>T	c.(3958-3960)tcG>tcT	p.S1320S	HIVEP2_ENST00000012134.2_Silent_p.S1320S|HIVEP2_ENST00000367604.1_Silent_p.S1320S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAGCATTTGCCGAGGCAAAAT	0.493000													20	124					2.94398e-08	4.24328e-08	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20071027	20071027	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:20071027G>A	ENST00000379651.3	-	5	582	c.564C>T	c.(562-564)tcC>tcT	p.S188S	MAP7D2_ENST00000443379.3_Intron|MAP7D2_ENST00000379643.5_Silent_p.S188S|MAP7D2_ENST00000452324.3_Silent_p.S144S|MAP7D2_ENST00000543767.1_Silent_p.S81S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	188										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTGCCACGGTGGATGAAGACA	0.443000													13	96					0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99960603	99960603	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:99960603G>C	ENST00000296411.6	+	5	553	c.419G>C	c.(418-420)cGa>cCa	p.R140P	METAP1_ENST00000544031.1_Missense_Mutation_p.R90P	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	140					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GAAGGGATGCGACTTGTATGT	0.368000													17	88					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164810	139164810	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:139164810G>T	ENST00000395297.1	-	13	2078	c.1908C>A	c.(1906-1908)acC>acA	p.T636T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	636										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTCAGAGGGGGTGAGTTTCA	0.468000										HNSCC(54;0.14)			15	142					2.23348e-06	2.93999e-06	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119802225	119802225	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:119802225C>T	ENST00000313400.4	-	6	1396	c.1296G>A	c.(1294-1296)gtG>gtA	p.V432V	ASTN2_ENST00000361209.2_Silent_p.V381V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.V432V			O75129	ASTN2_HUMAN	astrotactin 2	432						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGTCTTGTTCACTGGGCTTT	0.473000													3	34					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38562659	38562659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:38562659C>A	ENST00000423485.1	-	16	2088	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	644					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCATCATCTTCAGGACCAGAA	0.338000													3	27					0.115264	0.118008	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40662138	40662138	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:40662138A>T	ENST00000454349.2	+	5	2115	c.1904A>T	c.(1903-1905)gAc>gTc	p.D635V	TNRC6B_ENST00000335727.8_Missense_Mutation_p.D635V|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	635					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACAGTGTGGGACATTGAAGAG	0.552000													8	57					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685528	125685528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:125685528G>T	ENST00000371126.1	-	1	1306	c.1064C>A	c.(1063-1065)tCg>tAg	p.S355*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	355										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAAGCTCAGCGACCGCACGCC	0.627000													7	87					0.00307968	0.00343221	1	1	0
EMD	2010	broad.mit.edu	37	X	153608050	153608050	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:153608050G>T	ENST00000369842.4	+	2	371	c.82_splice	c.e2-1	p.G28_splice	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	28	LEM.				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GTCCGGCCAGGATCAACTCGT	0.706000													5	35					0.014758	0.015799	1	1	0
UBAP2	55833	broad.mit.edu	37	9	33941703	33941703	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:33941703T>C	ENST00000379238.1	-	16	1990	c.1873A>G	c.(1873-1875)Agg>Ggg	p.R625G	UBAP2_ENST00000449054.1_Missense_Mutation_p.R625G|UBAP2_ENST00000360802.1_Missense_Mutation_p.R625G|UBAP2_ENST00000418786.2_Missense_Mutation_p.R572G|UBAP2_ENST00000379225.1_Missense_Mutation_p.R258G|UBAP2_ENST00000379239.4_Missense_Mutation_p.R358G|UBAP2_ENST00000539807.1_Missense_Mutation_p.R380G			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	625										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TATGGGATCCTGTTATGCACA	0.438000													14	76					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101153127	101153127	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:101153127C>A	ENST00000372782.3	-	4	342	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	ZMAT1_ENST00000540921.1_Missense_Mutation_p.G99C|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATTTTCTTACCAGGCACTTCA	0.308000													13	60					0.000219431	0.000259694	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10469652	10469652	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:10469652G>T	ENST00000382483.3	-	4	2179	c.1956C>A	c.(1954-1956)agC>agA	p.S652R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	652					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCAGGGCTGCTGGGTGAGG	0.632000													10	79					1.08611e-07	1.52706e-07	1	1	0
NKAP	79576	broad.mit.edu	37	X	119077419	119077419	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:119077419G>T	ENST00000371410.3	-	1	316	c.150C>A	c.(148-150)tcC>tcA	p.S50S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	50	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCCGGTCCCCGGACCGAGAGC	0.677000													3	12					0.115264	0.118008	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100169967	100169967	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:100169967G>T	ENST00000524871.1	+	20	2749	c.2459G>T	c.(2458-2460)gGc>gTc	p.G820V	CNTN5_ENST00000528682.1_Missense_Mutation_p.G820V|CNTN5_ENST00000418526.2_Missense_Mutation_p.G746V|CNTN5_ENST00000527185.1_Missense_Mutation_p.G820V|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.G820V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	820	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAACACGTGGCTGGAAGGAA	0.403000													4	35					0.150653	0.152725	1	1	0
ENPP3	5169	broad.mit.edu	37	6	132061456	132061456	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:132061456C>A	ENST00000414305.1	+	25	2721	c.2393C>A	c.(2392-2394)cCt>cAt	p.P798H	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.P798H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	798	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAAAACTGCCCTGGGTGGCTG	0.507000													7	76					0.00198382	0.00223993	1	1	0
TRO	7216	broad.mit.edu	37	X	54956235	54956235	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:54956235T>A	ENST00000173898.7	+	12	3190	c.3078T>A	c.(3076-3078)aaT>aaA	p.N1026K	TRO_ENST00000420798.2_Missense_Mutation_p.N557K|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.N629K|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1026	62 X 10 AA approximate tandem repeats.			N -> G (in Ref. 1; BAA83066).	embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAACACCAATGCTGGTTATG	0.547000													6	65					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936428	4936428	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:4936428G>T	ENST00000322013.3	-	1	494	c.466C>A	c.(466-468)Cgt>Agt	p.R156S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTACACTACGACCCAGAGAG	0.468000													7	52					0.00198382	0.00223993	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44792546	44792546	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:44792546T>C	ENST00000291182.4	-	5	1144	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCGTGGCATGTATAGGGTTTC	0.443000													31	47					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985320	240985320	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:240985320C>T	ENST00000319423.4	-	1	169	c.170G>A	c.(169-171)aGg>aAg	p.R57K		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTACATGGGCCTGTGGAGGGA	0.552000													15	96					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857945	9857945	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:9857945C>T	ENST00000396573.2	-	14	3765	c.3456G>A	c.(3454-3456)caG>caA	p.Q1152Q	GRIN2A_ENST00000396575.2_Silent_p.Q1152Q|GRIN2A_ENST00000535259.1_Silent_p.Q995Q|GRIN2A_ENST00000562109.1_Silent_p.Q1152Q|GRIN2A_ENST00000404927.2_Silent_p.Q1152Q|GRIN2A_ENST00000330684.3_Silent_p.Q1152Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1152					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACTGGGATCCTGGTAGGGGT	0.527000													13	153					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599874	128599874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:128599874C>A	ENST00000371122.4	-	22	2893	c.2764G>T	c.(2764-2766)Gga>Tga	p.G922*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.G910*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.G910*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	922					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTGCTTCTCCACGTTCAATT	0.323000													23	159					9.57634e-11	1.50652e-10	1	1	0
IGHV3-7	28452	broad.mit.edu	37	14	106518705	106518705	+	RNA	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:106518705C>G	ENST00000390598.2	-	0	125																											CACTGGACACCTGCAAACAAA	0.522000													14	171					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62836964	62836964	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:62836964C>T	ENST00000536311.1	+	6	572	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	MYT1_ENST00000360149.4_Silent_p.L70L|MYT1_ENST00000328439.1_Silent_p.L70L			Q01538	MYT1_HUMAN	myelin transcription factor 1	70					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGCTGAGCACCTGGTGTCCAA	0.627000													7	48					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123634519	123634519	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:123634519C>A	ENST00000485727.1	-	9	5961	c.1369G>T	c.(1369-1371)Gac>Tac	p.D457Y	CCDC14_ENST00000310351.4_Missense_Mutation_p.D497Y|CCDC14_ENST00000433542.2_Missense_Mutation_p.D616Y|CCDC14_ENST00000489746.1_Missense_Mutation_p.D457Y|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000488653.2_Missense_Mutation_p.D657Y			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	657						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CGAGCACTGTCCACACTAAGA	0.393000													22	138					5.45024e-15	9.37441e-15	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153132121	153132121	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:153132121C>T	ENST00000370060.1	-	19	2603	c.2414G>A	c.(2413-2415)gGc>gAc	p.G805D	L1CAM_ENST00000361981.3_Missense_Mutation_p.G800D|L1CAM_ENST00000370055.1_Missense_Mutation_p.G800D|L1CAM_ENST00000361699.4_Missense_Mutation_p.G805D|L1CAM_ENST00000538883.1_Missense_Mutation_p.G807D|L1CAM_ENST00000370057.3_Missense_Mutation_p.G805D|L1CAM_ENST00000543994.1_Missense_Mutation_p.G807D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	805	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTAGCCGATAGTGAC	0.612000													17	92					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6751281	6751281	+	Missense_Mutation	SNP	C	C	T	rs1049230	by1000genomes	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:6751281C>T	ENST00000596758.1	+	14	1726	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	TRIP10_ENST00000313244.9_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_3'UTR|TRIP10_ENST00000313285.8_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	0	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCACGGGGAGCCCCAGGACCT	0.632000													5	58					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060920	189060920	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:189060920C>A	ENST00000332517.3	+	1	348	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	70					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTCAAACGAGCGTCTGGGGAG	0.612000													16	102					2.32078e-09	3.45108e-09	1	1	0
NOX4	50507	broad.mit.edu	37	11	89133529	89133529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:89133529C>A	ENST00000535633.1	-	10	1103	c.793G>T	c.(793-795)Gga>Tga	p.G265*	NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.G289*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Nonsense_Mutation_p.G123*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.G289*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.G310*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.G264*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.G265*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.G265*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	289	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CACAAAGGTCCAGAAATCCAA	0.398000													6	54					0.0215528	0.0227894	1	1	0
TET1	80312	broad.mit.edu	37	10	70333702	70333702	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:70333702C>A	ENST00000373644.4	+	2	1816	c.1607C>A	c.(1606-1608)gCt>gAt	p.A536D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	536	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTCTCAGGCTGGTCCTAGC	0.522000													16	73					6.31663e-08	8.92981e-08	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168103980	168103980	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:168103980A>G	ENST00000409195.1	+	9	6167	c.6078A>G	c.(6076-6078)gtA>gtG	p.V2026V	XIRP2_ENST00000295237.9_Silent_p.V2026V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1804V|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1851					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGCACTGTAAAGATTGTCA	0.388000													9	72					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744526	50744526	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:50744526G>T	ENST00000300589.2	+	4	809	c.704G>T	c.(703-705)cGc>cTc	p.R235L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	235			R -> C (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCAGTCTCGCTTCCTCAGT	0.557000													9	62					1.12685e-05	1.43925e-05	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423247	56423247	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:56423247G>C	ENST00000588751.1	-	5	1960	c.1936C>G	c.(1936-1938)Cag>Gag	p.Q646E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q646E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	646							ATP binding	p.Q646K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCCTCCTGGGACTCGTGT	0.413000													30	93					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773577	43773577	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:43773577G>T	ENST00000244293.7	-	1	73	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	PSG9_ENST00000596730.1_Missense_Mutation_p.P3T|PSG9_ENST00000418820.2_Missense_Mutation_p.P3T|PSG9_ENST00000291752.5_Missense_Mutation_p.P3T|PSG9_ENST00000270077.3_Missense_Mutation_p.P3T|PSG9_ENST00000593948.1_Missense_Mutation_p.P3T|PSG9_ENST00000443718.3_Missense_Mutation_p.P3T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	3					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGGGAGGGGCCCCATGGTC	0.622000													15	109					2.35188e-11	3.79241e-11	1	1	0
SNORD113-5	767565	broad.mit.edu	37	14	101404533	101404533	+	RNA	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:101404533G>A	ENST00000607261.1	+	0	10					NR_003233.1																						CTGGATCAATGATGAGTATTG	0.353000													58	144					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157555993	157555993	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:157555993G>C	ENST00000271532.1	-	6	1235	c.1100C>G	c.(1099-1101)cCt>cGt	p.P367R	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	367	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCTGGACAGGGCCGTAGCT	0.493000											OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	29	91					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735666	37735666	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:37735666C>A	ENST00000539465.1	+	13	1929	c.1336C>A	c.(1336-1338)Cgt>Agt	p.R446S	FRMPD1_ENST00000541302.1_Missense_Mutation_p.R315S|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R446S|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R268S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	446	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAACATCAGCCGTGTAGAGCT	0.453000													13	79					2.27111e-07	3.15874e-07	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10702986	10702986	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:10702986C>A	ENST00000377022.3	-	20	4409	c.4092G>T	c.(4090-4092)atG>atT	p.M1364I	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTCAGAGGACATGGCGCCTG	0.662000													6	30					0.00116845	0.00133982	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766696	77766696	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:77766696C>A	ENST00000521891.2	+	10	7987	c.7539C>A	c.(7537-7539)caC>caA	p.H2513Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2468Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2468Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2487Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2468						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACCAGCACATGCACTTCC	0.488000										HNSCC(33;0.089)			17	155					9.7654e-05	0.000117185	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155200721	155200721	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:155200721C>T	ENST00000460012.1	-	23	3361	c.3004G>A	c.(3004-3006)Ggg>Agg	p.G1002R	PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002R|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1040R|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1040					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGTGTCCCCTTGGCTGGTA	0.448000													16	119					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023144	18023144	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:18023144G>T	ENST00000205890.5	+	2	1368	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	344	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACTACCTGGATCCCTATGC	0.587000													17	106					3.32936e-07	4.59345e-07	1	1	0
ADH1B	125	broad.mit.edu	37	4	100235202	100235202	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:100235202C>T	ENST00000305046.8	-	6	671	c.604G>A	c.(604-606)Gga>Aga	p.G202R	ADH1B_ENST00000394887.3_Missense_Mutation_p.G162R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	202					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGACCCCTCCCAGGCCAAAC	0.468000													41	289					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28534608	28534608	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:28534608A>T	ENST00000357727.2	+	3	550	c.160A>T	c.(160-162)Atg>Ttg	p.M54L	CREB5_ENST00000396299.2_Missense_Mutation_p.M21L|CREB5_ENST00000396300.2_Missense_Mutation_p.M47L|CREB5_ENST00000409603.1_Missense_Mutation_p.M21L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	54					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AACAGACAATATGTTATCAGG	0.423000													11	86					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105623807	105623807	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:105623807C>T	ENST00000393127.2	+	4	794	c.348C>T	c.(346-348)tcC>tcT	p.S116S	GRIA4_ENST00000393125.2_Silent_p.S116S|GRIA4_ENST00000530497.1_Silent_p.S116S|GRIA4_ENST00000428631.2_Silent_p.S116S|GRIA4_ENST00000525187.1_Silent_p.S116S|GRIA4_ENST00000282499.5_Silent_p.S116S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	116					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TACATATCTCCCTCATCACAC	0.473000													14	74					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135940592	135940592	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:135940592G>C	ENST00000372080.4	+	4	531	c.515G>C	c.(514-516)gGg>gCg	p.G172A	CEL_ENST00000351304.7_Missense_Mutation_p.G169A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	169					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGCCCCCTTGGGTTCCTCAGC	0.622000													14	207					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98307736	98307736	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:98307736T>C	ENST00000371142.4	-	8	1186	c.970A>G	c.(970-972)Atg>Gtg	p.M324V	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	324						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTACTGAGCATTGATCCCCTC	0.323000													19	79					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985321	240985321	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:240985321T>A	ENST00000319423.4	-	1	168	c.169A>T	c.(169-171)Agg>Tgg	p.R57W		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TACATGGGCCTGTGGAGGGAG	0.557000													15	97					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3422440	3422440	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:3422440G>C	ENST00000336727.3	+	10	3737	c.2833G>C	c.(2833-2835)Gac>Cac	p.D945H	RGS12_ENST00000538395.1_Missense_Mutation_p.D287H|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.D945H|RGS12_ENST00000344733.5_Missense_Mutation_p.D945H|RGS12_ENST00000338806.4_Missense_Mutation_p.D297H|RGS12_ENST00000306648.7_Missense_Mutation_p.D343H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	945						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGAGCCTGGACCTGGTGAG	0.602000													6	34					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454580	48454580	+	Splice_Site	SNP	T	T	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:48454580T>G	ENST00000358536.4	-	24	4805		c.e24-2		PLXNB1_ENST00000448774.2_Splice_Site|PLXNB1_ENST00000456774.1_Splice_Site|PLXNB1_ENST00000358459.4_Splice_Site|PLXNB1_ENST00000296440.6_Splice_Site	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCTTCCTCCTGCTCAGCCCC	0.602000													5	67					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479788	4479788	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:4479788G>A	ENST00000237837.1	-	3	622	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	159					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTCCTCCGGGACAGGAACT	0.632000													16	75					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139574	90139574	+	RNA	SNP	T	T	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:90139574T>G	ENST00000492446.1	+	0	372																											AGTATAATAGTTACCCTCCCA	0.517000													10	83					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28534607	28534607	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:28534607T>A	ENST00000357727.2	+	3	549	c.159T>A	c.(157-159)aaT>aaA	p.N53K	CREB5_ENST00000396299.2_Missense_Mutation_p.N20K|CREB5_ENST00000396300.2_Missense_Mutation_p.N46K|CREB5_ENST00000409603.1_Missense_Mutation_p.N20K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	53					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AAACAGACAATATGTTATCAG	0.423000													11	89					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4735201	4735201	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:4735201G>A	ENST00000354582.6	+	33	4407	c.4057G>A	c.(4057-4059)Gtg>Atg	p.V1353M	ITPR1_ENST00000302640.8_Missense_Mutation_p.V1338M|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1344M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1329M|ITPR1_ENST00000443694.2_Missense_Mutation_p.V1338M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1344M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1353					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGATGTCCTCGTGTTCTACAA	0.488000													17	219					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657355	123657355	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:123657355G>T	ENST00000422452.2	-	17	2955	c.2892C>A	c.(2890-2892)gtC>gtA	p.V964V	TENM1_ENST00000371130.3_Silent_p.V964V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTGCATGGTGACTTTCTCTA	0.478000													17	122					1.67942e-08	2.44796e-08	1	1	0
THBS2	7058	broad.mit.edu	37	6	169641875	169641875	+	Missense_Mutation	SNP	G	G	T	rs146617741		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:169641875G>T	ENST00000366787.3	-	6	1122	c.873C>A	c.(871-873)agC>agA	p.S291R		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	291					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGAGGTTCTCGCTGAGCTGGT	0.647000													5	60					0.014758	0.015799	1	1	0
NRXN2	9379	broad.mit.edu	37	11	64418096	64418096	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:64418096A>T	ENST00000265459.6	-	15	3394	c.2933T>A	c.(2932-2934)gTg>gAg	p.V978E	NRXN2_ENST00000377551.1_Missense_Mutation_p.V978E|NRXN2_ENST00000409571.1_Missense_Mutation_p.V971E|NRXN2_ENST00000377559.3_Missense_Mutation_p.V938E|AP001092.4_ENST00000433606.1_RNA	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	978	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAGGTCAAACACGTAGTGGAT	0.607000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	68					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	988806	988806	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:988806C>T	ENST00000315939.6	+	11	3084	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1312L|WNK1_ENST00000340908.4_Missense_Mutation_p.S407L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	814					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACACAACCCTCGGTTGTTCCA	0.527000													6	105					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181754455	181754455	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:181754455C>A	ENST00000526775.1	+	41	5688	c.5521_splice	c.e41-1	p.A1841_splice	CACNA1E_ENST00000367570.1_Splice_Site_p.A1860_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.A1467_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.A1860_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.A1841_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.A1792_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.A1811_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1860					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTTCTAGCCTCTGACCTGA	0.478000													10	20					0.00829132	0.00910281	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18276506	18276506	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:18276506C>A	ENST00000377369.2	+	7	1468	c.1195C>A	c.(1195-1197)Ctt>Att	p.L399I	SLC39A12_ENST00000377374.4_Missense_Mutation_p.L399I|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L399I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L265I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	399					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L399F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAACTACAGGCTTATCTTACA	0.542000													14	91					1.5739e-10	2.45357e-10	1	1	0
CRNN	49860	broad.mit.edu	37	1	152383002	152383002	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:152383002A>G	ENST00000271835.3	-	3	618	c.556T>C	c.(556-558)Tct>Cct	p.S186P	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	186	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCCCAGAGAGTTGTATC	0.567000													33	334					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403323	42403323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:42403323C>A	ENST00000319234.4	+	2	790	c.572C>A	c.(571-573)tCa>tAa	p.S191*		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	191	Poly-Pro.				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CTGGTGCCCTCACCGCCCCCG	0.657000													9	69					0.307466	0.308662	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982713	7982713	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:7982713G>A	ENST00000328600.2	-	2	607	c.446C>T	c.(445-447)tCt>tTt	p.S149F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	149							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCGTGACAGACTCCAGCTC	0.582000													6	36					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53250391	53250391	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr13:53250391G>A	ENST00000535397.1	+	12	859	c.486G>A	c.(484-486)gaG>gaA	p.E162E	SUGT1_ENST00000343788.6_Silent_p.E250E|SUGT1_ENST00000310528.7_Silent_p.E218E			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	250					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AAAAGCCAGAGGCTGTGAGAT	0.383000													9	32					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100170098	100170098	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:100170098C>A	ENST00000524871.1	+	20	2880	c.2590C>A	c.(2590-2592)Caa>Aaa	p.Q864K	CNTN5_ENST00000528682.1_Missense_Mutation_p.Q864K|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q790K|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q864K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q864K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	864	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCCTTTTAGTCAAATTGTGGT	0.338000													5	59					0.0215528	0.0227894	1	1	0
CHP2	63928	broad.mit.edu	37	16	23768529	23768529	+	Missense_Mutation	SNP	G	G	T	rs112597134	byFrequency	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:23768529G>T	ENST00000300113.2	+	6	845	c.422G>T	c.(421-423)cGt>cTt	p.R141L		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	141	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CAGGTTCTCCGTCTGATGGTT	0.562000													4	60					0.150653	0.152725	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2975921	2975921	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:2975921C>A	ENST00000602557.1	-	43	6988	c.6433_splice	c.e43+1	p.A2145_splice	CSMD1_ENST00000602723.1_Splice_Site_p.A2145_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A2144_splice|CSMD1_ENST00000537824.1_Splice_Site_p.A2144_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A2145_splice|CSMD1_ENST00000520002.1_Splice_Site_p.A2145_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2145	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGAACTTACCATCACATCTT	0.373000													9	63					3.86212e-05	4.77903e-05	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34266696	34266696	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:34266696C>T	ENST00000346562.2	+	10	1313	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	NPAS3_ENST00000356141.4_Silent_p.I445I|NPAS3_ENST00000551492.1_Silent_p.I450I|NPAS3_ENST00000548645.1_Silent_p.I415I|NPAS3_ENST00000357798.5_Silent_p.I432I	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCATGGACATCGCACAGCTCC	0.512000													14	117					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133005619	133005619	+	Missense_Mutation	SNP	G	G	T	rs139377346	byFrequency	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:133005619G>T	ENST00000367928.4	-	6	1227	c.1214C>A	c.(1213-1215)aCg>aAg	p.T405K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	405					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TAAATTAGTCGTTTTACATTT	0.388000													6	72					2.0095e-06	2.65872e-06	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851683	14851683	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:14851683T>A	ENST00000358984.4	+	36	3563	c.3383T>A	c.(3382-3384)aTg>aAg	p.M1128K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1213										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAACTTCAAATGACCCTAAAA	0.373000													4	41					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77107811	77107811	+	Silent	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr18:77107811G>C	ENST00000426216.2	+	24	2741	c.2724G>C	c.(2722-2724)acG>acC	p.T908T	ATP9B_ENST00000307671.7_Silent_p.T908T|ATP9B_ENST00000543761.1_Silent_p.T229T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	908					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCTCCATCACGCAGTTCCGGC	0.597000													15	65					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568266	7568266	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:7568266G>A	ENST00000340209.4	+	2	457	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCCCACCCCGCGCCAGAGTA	0.662000													37	144					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600406	54600406	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:54600406G>T	ENST00000284648.6	-	4	313	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.P43Q|OSCAR_ENST00000351806.4_Missense_Mutation_p.P28Q|OSCAR_ENST00000358375.4_Missense_Mutation_p.P39Q|OSCAR_ENST00000359649.4_Missense_Mutation_p.P43Q|OSCAR_ENST00000391761.1_Missense_Mutation_p.P28Q			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	39	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AACTGTAGCCGGCTGAGCTCC	0.612000													26	68					5.61819e-17	1.00311e-16	1	1	0
CLEC5A	23601	broad.mit.edu	37	7	141635616	141635616	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:141635616G>T	ENST00000546910.1	-	5	539	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.L92M|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.L92M	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	115	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTCTCACCAGTTTCTCTGGC	0.473000													19	122					8.34094e-07	1.12081e-06	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101555608	101555608	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:101555608G>T	ENST00000284395.5	+	13	2000		c.e13+1		LRRK1_ENST00000388948.3_Splice_Site			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						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)			ACTGAGGCAGGTGTGTGTGGG	0.572000											OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0.00909568	0.00986002	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140783162	140783162	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:140783162T>A	ENST00000573521.1	+	1	643	c.643T>A	c.(643-645)Tcg>Acg	p.S215T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGCCTCGGATGGCGG	0.602000													4	42					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25975974	25975974	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:25975974G>A	ENST00000395473.2	+	11	2502	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.G301E|LGALS9_ENST00000302228.5_Missense_Mutation_p.G313E|LGALS9_ENST00000413914.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	345	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTGGAAGTGGGGGGCGACATC	0.617000													15	191					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55839101	55839101	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:55839101C>A	ENST00000373965.2	-	18	2496	c.2102G>T	c.(2101-2103)aGg>aTg	p.R701M	PCDH15_ENST00000395432.2_Missense_Mutation_p.R657M|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R694M|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R701M|PCDH15_ENST00000395430.1_Missense_Mutation_p.R694M|PCDH15_ENST00000361849.3_Missense_Mutation_p.R694M|PCDH15_ENST00000373957.3_Missense_Mutation_p.R672M|PCDH15_ENST00000395433.1_Missense_Mutation_p.R672M|PCDH15_ENST00000414778.1_Missense_Mutation_p.R699M|PCDH15_ENST00000373955.1_Missense_Mutation_p.R694M|PCDH15_ENST00000409834.1_Missense_Mutation_p.R305M|PCDH15_ENST00000437009.1_Missense_Mutation_p.R623M|PCDH15_ENST00000395446.1_Missense_Mutation_p.R694M|PCDH15_ENST00000395438.1_Missense_Mutation_p.R694M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	694	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCATCTGGCCTGCCATCTGA	0.433000										HNSCC(58;0.16)			45	190					1.06522e-23	1.97008e-23	1	1	0
CCR2	729230	broad.mit.edu	37	3	46399923	46399923	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:46399923C>G	ENST00000292301.4	+	2	1390	c.905C>G	c.(904-906)cCc>cGc	p.P302R	CCR2_ENST00000445132.2_Missense_Mutation_p.P302R|CCR2_ENST00000400888.2_Missense_Mutation_p.P302R|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	302					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TGCATCAATCCCATCATCTAT	0.498000													18	131					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592192	81592192	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:81592192G>T	ENST00000394660.2	+	14	2885	c.2525G>T	c.(2524-2526)aGa>aTa	p.R842I	IL16_ENST00000302987.4_Missense_Mutation_p.R842I|IL16_ENST00000394652.2_Missense_Mutation_p.R141I|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	842					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCAGGCAGAGAATCAGCTCC	0.592000													3	25					0.115264	0.118008	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71425637	71425637	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:71425637G>T	ENST00000373657.1	-	3	3213	c.2611C>A	c.(2611-2613)Cat>Aat	p.H871N	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.H994N			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	994					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)					GTTTTGCTATGCACAAACCCT	0.393000													18	133					4.63292e-17	8.30065e-17	1	1	0
DDX17	10521	broad.mit.edu	37	22	38891937	38891937	+	Silent	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:38891937T>A	ENST00000396821.3	-	6	843	c.744A>T	c.(742-744)ctA>ctT	p.L248L	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.L169L	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	169	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GAGCCAGAACTAGACACTGAA	0.368000													10	97					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881323	26881323	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:26881323A>G	ENST00000231021.4	-	12	2464	c.2292T>C	c.(2290-2292)taT>taC	p.Y764Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	764					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGAGGTAATCATAATCTTGGT	0.428000													26	155					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375125	118375125	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:118375125A>T	ENST00000534358.1	+	27	8541	c.8518A>T	c.(8518-8520)Aac>Tac	p.N2840Y	KMT2A_ENST00000354520.4_Missense_Mutation_p.N2799Y|KMT2A_ENST00000389506.5_Missense_Mutation_p.N2837Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGACAATAACAACAGTGATGA	0.448000													16	147					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551345	99551345	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:99551345C>A	ENST00000373034.4	-	6	5052	c.3377G>T	c.(3376-3378)aGc>aTc	p.S1126I	PCDH19_ENST00000255531.7_Missense_Mutation_p.S1079I|PCDH19_ENST00000420881.2_Missense_Mutation_p.S1078I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1126					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGAATGGGGCTGACCTCATG	0.507000													42	160					5.78141e-17	1.02869e-16	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96354717	96354717	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:96354717C>G	ENST00000324765.8	+	20	2619	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q758E|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q758E|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q754E|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q758E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	758	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TCTTCCTGAGCAGAAGATACT	0.328000													4	30					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108172	95108172	+	RNA	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:95108172G>T	ENST00000469935.1	+	0	777					NR_015340.1																						GGGAAGCTCGGGGCCTGGGAG	0.587000													31	102					6.02846e-25	1.12706e-24	1	1	0
SLC16A6	9120	broad.mit.edu	37	17	66274420	66274420	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:66274420C>T	ENST00000327268.4	-	3	206	c.42G>A	c.(40-42)gtG>gtA	p.V14V	SLC16A6_ENST00000580666.1_Silent_p.V14V|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	14						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTTCAGTATACACATTGGCTT	0.398000													14	48					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133198153	133198153	+	Silent	SNP	C	C	T	rs138785836		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:133198153C>T	ENST00000343948.4	+	10	1089	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000389110.3_Intron|P2RX2_ENST00000352418.4_Intron			Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	354					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGGGTCCCAGCGGGTGCGGGG	0.592000													4	59					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284654	43284654	+	RNA	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:43284654T>A	ENST00000511537.1	-	0	281					NR_033868.1																						GGTGGTACTCTTCCAAGGTAG	0.438000													4	16					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262472	45262472	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:45262472G>T	ENST00000303230.4	-	8	2281	c.2224C>A	c.(2224-2226)Cag>Aag	p.Q742K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	742	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						tgcggcggctgggactgctgt	0.637000													13	39					0.00136819	0.00156192	1	1	0
ZNF484	83744	broad.mit.edu	37	9	95609412	95609412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:95609412C>A	ENST00000395505.2	-	3	1641	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E555*|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E517*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.E553*|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCACTGCATTCATAATGTCTC	0.413000													7	168					8.12818e-05	9.7994e-05	1	1	0
EPB41L1	2036	broad.mit.edu	37	20	34770228	34770228	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:34770228C>T	ENST00000338074.2	+	6	686	c.525C>T	c.(523-525)ttC>ttT	p.F175F	EPB41L1_ENST00000373946.3_Silent_p.F144F|EPB41L1_ENST00000373941.1_Silent_p.F175F|EPB41L1_ENST00000441639.1_Silent_p.F113F|EPB41L1_ENST00000373950.2_Silent_p.F78F|EPB41L1_ENST00000202028.5_Silent_p.F113F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	175	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTCAAGTTCTACCCGCCTG	0.572000													6	50					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434196	69434196	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:69434196G>T	ENST00000317746.2	-	1	49	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	3					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATCCATTTCAGAGACATCCTG	0.403000													46	381					1.4374e-25	2.69708e-25	1	1	0
AOC1	26	broad.mit.edu	37	7	150555073	150555073	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:150555073G>A	ENST00000493429.1	+	4	2099	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	AOC1_ENST00000467291.1_Silent_p.L505L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.L505L|AOC1_ENST00000416793.2_Silent_p.L505L					amine oxidase, copper containing 1																		ACACCCACCTGATTGGCAACA	0.597000													12	102					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363866	84363866	+	Translation_Start_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:84363866C>A	ENST00000395409.3	-	0	108				SATL1_ENST00000509231.1_Missense_Mutation_p.G37W|SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTTGCACTCCCTTGGTTCATG	0.448000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	58					2.23348e-06	2.93999e-06	1	1	0
BNIP1	662	broad.mit.edu	37	5	172590834	172590834	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:172590834G>T	ENST00000231668.9	+	7	830	c.726G>T	c.(724-726)ctG>ctT	p.L242L	BNIP1_ENST00000393770.4_Silent_p.L165L|BNIP1_ENST00000352523.6_Silent_p.L208L|BNIP1_ENST00000351486.5_Silent_p.L199L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	199					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCGGGAGCTGACGGACAAGC	0.483000													7	89					0.0293803	0.030751	1	1	0
CETP	1071	broad.mit.edu	37	16	57003425	57003425	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:57003425G>T	ENST00000200676.3	+	3	491	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.A121S|CETP_ENST00000566128.1_Missense_Mutation_p.A56S	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	121					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTACACCACTGCCTGGTGGTA	0.582000													7	136					0.0293803	0.030751	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31409138	31409138	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:31409138G>T	ENST00000389202.2	+	5	384	c.335G>T	c.(334-336)aGa>aTa	p.R112I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	112					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCCTGCACAGAGTCTGTGGG	0.652000													4	21					0.00909568	0.00986002	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86773044	86773044	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:86773044G>C	ENST00000373119.4	+	1	293	c.148G>C	c.(148-150)Ggc>Cgc	p.G50R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G50R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	50						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCCGGTTCAGGGCAGGTTGAA	0.547000													7	82					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535335	24535335	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:24535335G>T	ENST00000264463.4	-	5	1207	c.700C>A	c.(700-702)Caa>Aaa	p.Q234K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	234	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACCACTTGGTATTGCTCT	0.453000										HNSCC(23;0.051)			13	95					9.31168e-06	1.19226e-05	1	1	0
CHD5	26038	broad.mit.edu	37	1	6203990	6203990	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:6203990C>A	ENST00000262450.3	-	13	2035	c.1934_splice	c.e13-1	p.E646_splice	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	646	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCATCAGCTCCCTGGGAAAC	0.647000													21	75					1.2644e-06	1.69463e-06	1	1	0
WDR49	151790	broad.mit.edu	37	3	167218056	167218056	+	Silent	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:167218056C>G	ENST00000308378.3	-	14	2165	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.L585L|WDR49_ENST00000476376.1_Silent_p.L445L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	620										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCAGCTCTTCCAGGGCTCCAA	0.443000													42	211					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30522575	30522575	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:30522575G>T	ENST00000375938.4	+	12	1141	c.888G>T	c.(886-888)agG>agT	p.R296S	TTLL9_ENST00000535842.1_Missense_Mutation_p.R296S|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.G264V|TTLL9_ENST00000310998.4_Missense_Mutation_p.R261S|TTLL9_ENST00000375922.4_Missense_Mutation_p.R238S			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	296	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CACTCTTCAGGGACATCGACA	0.597000													13	91					1.36491e-13	2.31676e-13	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885901	88885901	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:88885901C>A	ENST00000319675.3	-	1	395	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	100										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGATGATGCCGTACTTGGA	0.547000													23	124					9.57634e-11	1.50652e-10	1	1	0
HYAL1	3373	broad.mit.edu	37	3	50339834	50339834	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:50339834C>T	ENST00000266031.4	-	1	1169	c.554G>A	c.(553-555)gGc>gAc	p.G185D	HYAL1_ENST00000395143.2_Missense_Mutation_p.G185D|HYAL1_ENST00000395144.2_Missense_Mutation_p.G185D|HYAL1_ENST00000457214.2_Missense_Mutation_p.G3D|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.G185D			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	185						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CTGGAGGGTGCCTGCCATCCA	0.637000													4	42					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797391	101797391	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:101797391C>T	ENST00000375001.3	+	18	2598	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	725	Triple-helical region 2 (COL2).				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)				CTCCTGGACCCCCTGGGCCCC	0.577000													22	85					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277274	114277274	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:114277274G>A	ENST00000357077.4	+	38	7553	c.7500G>A	c.(7498-7500)acG>acA	p.T2500T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.T2467T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2467					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACTCTTGACGGAAGTGGCCT	0.527000													17	115					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72950295	72950295	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:72950295C>G	ENST00000425042.2	-	14	1879	c.1802G>C	c.(1801-1803)gGc>gCc	p.G601A		NM_030630.2	NP_085133.1			HID1 domain containing																		GGGGCGGGAGCCCTCCATGGA	0.682000													3	10					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356346	121356346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:121356346G>T	ENST00000339397.4	+	6	988	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TTCAGTTAAGGAACAAAAACC	0.388000													6	71					2.0095e-06	2.65872e-06	1	1	0
C7orf10	79783	broad.mit.edu	37	7	40723699	40723699	+	Silent	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:40723699T>C	ENST00000309930.5	+	13	1179	c.1155T>C	c.(1153-1155)caT>caC	p.H385H	C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	370							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ccttggcccatggccccttcc	0.478000													10	60					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363392	84363392	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:84363392G>T	ENST00000509231.1	-	1	662	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K	SATL1_ENST00000395409.3_Missense_Mutation_p.Q8K|SATL1_ENST00000332921.5_Missense_Mutation_p.Q8K			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	8	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACGCCTGGTTGCCACATGCCT	0.572000													8	143					0.00307968	0.00343221	1	1	0
UVSSA	57654	broad.mit.edu	37	4	1369228	1369228	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:1369228G>T	ENST00000389851.4	+	9	1812	c.1365G>T	c.(1363-1365)tcG>tcT	p.S455S	UVSSA_ENST00000511563.1_Silent_p.S6S|UVSSA_ENST00000511216.1_Silent_p.S455S|UVSSA_ENST00000512728.1_Silent_p.S6S|UVSSA_ENST00000507531.1_Silent_p.S455S	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	455																	AGGAGGTGTCGGACCCCACCT	0.642000													5	71					1.23904e-05	1.57474e-05	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8808110	8808110	+	Silent	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:8808110G>C	ENST00000324436.3	-	1	1062	c.942C>G	c.(940-942)ggC>ggG	p.G314G		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	314						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGTGGAGAGGCCGACGGGTG	0.647000													9	56					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22034501	22034501	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:22034501C>T	ENST00000306385.5	+	5	1249	c.579C>T	c.(577-579)ggC>ggT	p.G193G	BMP1_ENST00000397816.3_Silent_p.G193G|BMP1_ENST00000354870.5_Silent_p.G193G|BMP1_ENST00000397814.3_Silent_p.G193G|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.G193G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	193	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTCGCCGCGGCGGGGGCCCCC	0.701000													3	16					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230382	32230382	+	Silent	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:32230382T>C	ENST00000382142.3	-	16	1916	c.1746A>G	c.(1744-1746)gaA>gaG	p.E582E	MTMR12_ENST00000264934.5_Silent_p.E472E|MTMR12_ENST00000280285.5_Silent_p.E528E|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	582	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGATCTGTTTCTTCCCTGA	0.353000													7	117					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264921	231264921	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:231264921A>T	ENST00000243810.6	+	15	1277	c.1277A>T	c.(1276-1278)cAt>cTt	p.H426L	SP140L_ENST00000396563.4_Missense_Mutation_p.H391L|SP140L_ENST00000444636.1_Missense_Mutation_p.H426L|SP140L_ENST00000415673.2_Missense_Mutation_p.H426L			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	426						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGAGTCTTCCATGAGGACTGC	0.517000													7	59					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103379962	103379962	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:103379962C>A	ENST00000358392.2	-	52	4278		c.e52-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAACAGGACCCTAGAATGACG	0.363000													4	41					0.00909568	0.00986002	1	1	0
MYH15	22989	broad.mit.edu	37	3	108139993	108139993	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:108139993C>T	ENST00000273353.3	-	29	3887	c.3831G>A	c.(3829-3831)aaG>aaA	p.K1277K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1277						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACTGAGTCACCTTATCTAGCT	0.453000													29	141					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51617237	51617237	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:51617237G>A	ENST00000522124.1	+	16	1777	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	SNTG1_ENST00000518864.1_Silent_p.V372V|SNTG1_ENST00000517473.1_Silent_p.V372V|SNTG1_ENST00000276467.5_Silent_p.V372V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	372	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTTCTCAGTGGAGCTGGAAA	0.542000													11	78					0	0	1	0	0
PDCD5	9141	broad.mit.edu	37	19	33078159	33078159	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:33078159T>C	ENST00000590247.1	+	6	525	c.330_splice	c.e6-1	p.F111_splice	PDCD5_ENST00000586035.1_Splice_Site_p.F73_splice|PDCD5_ENST00000379316.3_Splice_Site_p.S35_splice|PDCD5_ENST00000592786.1_3'UTR	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	111					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TTCCTCCCAGTTCAACAGAAG	0.353000													12	75					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595459	82595459	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:82595459A>G	ENST00000423517.2	-	4	3982	c.3645T>C	c.(3643-3645)ccT>ccC	p.P1215P	PCLO_ENST00000333891.8_Silent_p.P1215P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1154					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTTTCTTCAGGGAGTGGCT	0.368000													56	200					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204408126	204408126	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:204408126G>A	ENST00000367187.3	-	24	4009	c.3453C>T	c.(3451-3453)ttC>ttT	p.F1151F	PIK3C2B_ENST00000424712.2_Silent_p.F1123F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1151	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCGGTCCTTGAACGAGCCGG	0.597000													11	35					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730626	173730626	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:173730626C>A	ENST00000506823.1	+	6	1325	c.668C>A	c.(667-669)gCc>gAc	p.A223D	GALNTL6_ENST00000508122.1_Missense_Mutation_p.A206D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	223	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCATCTATGGCCAGAGGAGAA	0.527000													16	77					0.00316338	0.0035179	1	1	0
LRTM2	654429	broad.mit.edu	37	12	1943698	1943698	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:1943698G>T	ENST00000543818.1	+	5	1766	c.924G>T	c.(922-924)atG>atT	p.M308I	LRTM2_ENST00000299194.1_Missense_Mutation_p.M308I|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.M308I|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	308						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGCGAGCCATGGGCACGGTGA	0.672000													6	53					3.59834e-05	4.50665e-05	1	1	0
PCLO	27445	broad.mit.edu	37	7	82585284	82585284	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:82585284C>A	ENST00000423517.2	-	5	5322	c.4985G>T	c.(4984-4986)gGa>gTa	p.G1662V	PCLO_ENST00000333891.8_Missense_Mutation_p.G1662V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1593					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGTAGCCCTCCTCCTCCAGT	0.368000													43	132					3.38236e-24	6.30071e-24	1	1	0
FLNB	2317	broad.mit.edu	37	3	58141750	58141750	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:58141750C>T	ENST00000295956.4	+	41	7001	c.6836C>T	c.(6835-6837)cCg>cTg	p.P2279L	FLNB_ENST00000348383.5_Missense_Mutation_p.P2238L|FLNB_ENST00000419752.2_Missense_Mutation_p.P2099L|FLNB_ENST00000429972.2_Missense_Mutation_p.P2268L|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Missense_Mutation_p.P2255L|FLNB_ENST00000493452.1_Missense_Mutation_p.P2086L|FLNB_ENST00000490882.1_Missense_Mutation_p.P2310L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2279	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TACCTGGTGCCGGTCATCGCA	0.562000													5	56					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510154	77510154	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:77510154A>T	ENST00000477717.1	+	3	762	c.527A>T	c.(526-528)tAc>tTc	p.Y176F		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	176					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCCAGCAGCTACATGCGGCGG	0.612000													23	106					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936211	38936211	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:38936211A>T	ENST00000302328.3	-	15	2846	c.2648T>A	c.(2647-2649)cTg>cAg	p.L883Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.L883Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.L883Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.L883Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	883					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTCCATGACCAGGGGAATGAT	0.507000													20	107					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51617238	51617238	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:51617238G>C	ENST00000522124.1	+	16	1778	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	SNTG1_ENST00000518864.1_Missense_Mutation_p.E373Q|SNTG1_ENST00000517473.1_Missense_Mutation_p.E373Q|SNTG1_ENST00000276467.5_Missense_Mutation_p.E373Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	373	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTTCTCAGTGGAGCTGGAAAG	0.542000													11	77					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18317640	18317640	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:18317640C>G	ENST00000396253.3	-	12	1660	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	HPS5_ENST00000438420.2_Missense_Mutation_p.E400Q|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E514Q	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	514						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTATCTGTCTCAAACATCACT	0.363000									Hermansky-Pudlak syndrome				8	55					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													6	42					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252969	124252969	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:124252969T>C	ENST00000375013.2	-	1	289	c.271A>G	c.(271-273)Att>Gtt	p.I91V		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGGAGATAATATTCTTTTTT	0.368000													11	100					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90844395	90844395	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:90844395G>A	ENST00000394980.1	+	5	1246	c.927G>A	c.(925-927)caG>caA	p.Q309Q	MMRN1_ENST00000264790.2_Silent_p.Q309Q|MMRN1_ENST00000508372.1_Silent_p.Q51Q|MMRN1_ENST00000394981.1_Silent_p.Q275Q			Q13201	MMRN1_HUMAN	multimerin 1	309	Poly-Gln.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGCTGAGCAGCAGCAGCAGC	0.448000													53	216					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681232	44681232	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:44681232G>A	ENST00000590089.1	+	7	2184	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	ZNF226_ENST00000454662.2_Missense_Mutation_p.C606Y|ZNF226_ENST00000337433.5_Missense_Mutation_p.C606Y|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AAAATTCACTGTAGGATCCAC	0.463000													41	88					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127521	3127521	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:3127521C>A	ENST00000380266.3	-	2	2517	c.2196G>T	c.(2194-2196)gtG>gtT	p.V732V	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	732	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATAACTCTACCACACGGTAGC	0.488000													21	139					2.39187e-15	4.15558e-15	1	1	0
CD28	940	broad.mit.edu	37	2	204591549	204591549	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:204591549G>T	ENST00000324106.7	+	2	395	c.246G>T	c.(244-246)acG>acT	p.T82T	CD28_ENST00000458610.2_Silent_p.T96T|CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	82	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTCAAAAACGGGGTTCAACT	0.428000													11	96					6.40141e-05	7.80881e-05	1	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364518	142364518	+	RNA	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:142364518G>T	ENST00000390397.2	+	0	189																											ATGATAGAATGTACTGGTATC	0.438000													12	36					3.07112e-06	3.97167e-06	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3111910	3111910	+	Nonstop_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:3111910C>A	ENST00000446632.2	-	12	1836	c.1262G>T	c.(1261-1263)tGa>tTa	p.*421L	IL5RA_ENST00000445864.2_Nonstop_Mutation_p.*212L|IL5RA_ENST00000438560.1_3'UTR|IL5RA_ENST00000256452.3_Nonstop_Mutation_p.*421L|IL5RA_ENST00000418488.2_Nonstop_Mutation_p.*326L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	0					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAGTGACAGTCAAAACACAGA	0.453000													11	179					1.05317e-09	1.58899e-09	1	1	0
GRK7	131890	broad.mit.edu	37	3	141497311	141497311	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:141497311A>T	ENST00000264952.2	+	1	322	c.185A>T	c.(184-186)cAg>cTg	p.Q62L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	62	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGTGTGAGCAGCAGCCCATC	0.677000													3	25					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91690072	91690072	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:91690072C>T	ENST00000375835.4	-	4	987	c.681G>A	c.(679-681)ctG>ctA	p.L227L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	227	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGGAGATGGTCAGAGAGATGC	0.522000													5	65					0	0	1	0	0
CARTPT	9607	broad.mit.edu	37	5	71015211	71015211	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:71015211G>A	ENST00000296777.4	+	1	222	c.91G>A	c.(91-93)Gcc>Acc	p.A31T		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	31					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	CCAGGAGGACGCCGAGCTCCA	0.652000													7	69					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003852	155003852	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:155003852C>A	ENST00000302805.2	+	2	750	c.319C>A	c.(319-321)Cct>Act	p.P107T		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	107					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TACACCCTCACCTTCAGGCCA	0.567000													17	97					4.7546e-09	7.02973e-09	1	1	0
ITFG2	55846	broad.mit.edu	37	12	2927335	2927335	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:2927335G>T	ENST00000228799.2	+	4	437	c.298G>T	c.(298-300)Gtg>Ttg	p.V100L	ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	100										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACCTGCCAAGGTGTTGGATGC	0.527000													8	70					0.00307968	0.00343221	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577138	33577138	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:33577138G>C	ENST00000504830.1	-	19	3328	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S913C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	998	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCCGGCTAGAAGGGCATTG	0.517000										HNSCC(64;0.19)			25	198					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29498275	29498275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:29498275G>T	ENST00000389048.3	-	10	2811	c.1905C>A	c.(1903-1905)taC>taA	p.Y635*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	635	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACTGGTGAGGTAGCAGTCCA	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	54					4.68919e-08	6.72117e-08	1	1	0
NDUFC2	4718	broad.mit.edu	37	11	77790712	77790712	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:77790712C>A	ENST00000281031.4	-	1	553	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	NDUFC2_ENST00000525085.1_Missense_Mutation_p.D27Y|NDUFC2_ENST00000534029.1_Missense_Mutation_p.D27Y|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.D27Y|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.D27Y|NDUFC2_ENST00000527806.1_Missense_Mutation_p.D27Y|NDUFC2_ENST00000528164.1_Missense_Mutation_p.D27Y	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa											large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGCCGCGGGTCGGTCAGCTTG	0.647000													3	11					0.115264	0.118008	1	1	0
SRMS	6725	broad.mit.edu	37	20	62172643	62172643	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:62172643C>T	ENST00000217188.1	-	7	1226	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TTGGCCGCCTCAGGCGCTGTC	0.622000													18	159					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89703638	89703638	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:89703638G>T	ENST00000393092.3	+	7	909	c.618G>T	c.(616-618)ctG>ctT	p.L206L	DPEP1_ENST00000421184.1_Silent_p.L206L|DPEP1_ENST00000261615.4_Silent_p.L206L	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	206					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TGAACCGTCTGGGGGTCCTCA	0.657000													6	64					8.12818e-05	9.7994e-05	1	1	0
CYFIP2	26999	broad.mit.edu	37	5	156768109	156768109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:156768109G>T	ENST00000347377.6	+	23	3048	c.2617G>T	c.(2617-2619)Gaa>Taa	p.E873*	CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.E898*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.E677*|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R157I|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.E798*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.E873*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.E572*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.E847*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	898					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCACCCAAGAACCACAACG	0.463000													10	46					0.00621372	0.00685102	1	1	0
ZBTB22	9278	broad.mit.edu	37	6	33284169	33284169	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:33284169G>A	ENST00000431845.2	-	2	676	c.525C>T	c.(523-525)tcC>tcT	p.S175S	ZBTB22_ENST00000418724.1_Silent_p.S175S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCACTCCCGGATGGCACCC	0.632000													9	63					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507476	17507476	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:17507476G>T	ENST00000229922.2	+	5	909	c.377G>T	c.(376-378)gGg>gTg	p.G126V	CAP2_ENST00000465994.1_Missense_Mutation_p.G126V|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.G100V|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	126					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGAAACCGGGGGAGTAACATG	0.498000													13	71					5.50884e-06	7.08868e-06	1	1	0
OR13C2	392376	broad.mit.edu	37	9	107367201	107367201	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:107367201T>A	ENST00000542196.1	-	1	750	c.708A>T	c.(706-708)aaA>aaT	p.K236N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TAGAGGAAGCTTTGCTTCTCC	0.393000													11	130					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600401	29600401	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr13:29600401C>A	ENST00000431530.3	+	1	1654	c.1596C>A	c.(1594-1596)acC>acA	p.T532T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	522						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGAAAGCACCTCAGCAAGAG	0.483000													9	52					3.09899e-07	4.28707e-07	1	1	0
NAV3	89795	broad.mit.edu	37	12	78553040	78553040	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:78553040A>G	ENST00000397909.2	+	23	5016	c.4843A>G	c.(4843-4845)Agt>Ggt	p.S1615G	NAV3_ENST00000228327.6_Missense_Mutation_p.S1615G|NAV3_ENST00000266692.7_Missense_Mutation_p.S1438G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1615G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1615						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCGATTGCAAAGTCTAACTAT	0.388000										HNSCC(70;0.22)			12	45					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78401105	78401105	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:78401105C>A	ENST00000397909.2	+	8	1960	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S596Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S596Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S596Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	596						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTTCTGGTTCCTGTACCATG	0.522000										HNSCC(70;0.22)			36	122					6.84511e-11	1.08679e-10	1	1	0
ZNF528	84436	broad.mit.edu	37	19	52919085	52919085	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:52919085G>T	ENST00000360465.3	+	7	1406	c.980G>T	c.(979-981)tGt>tTt	p.C327F	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCTTACAGTTGTAATAAATGT	0.378000													25	58					6.21321e-17	1.10172e-16	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77353506	77353506	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:77353506A>T	ENST00000451710.3	-	35	5842	c.5605T>A	c.(5605-5607)Tac>Aac	p.Y1869N	TRPM6_ENST00000376864.4_Missense_Mutation_p.Y1869N|TRPM6_ENST00000376871.3_Missense_Mutation_p.Y702N|TRPM6_ENST00000376872.3_Missense_Mutation_p.Y820N|TRPM6_ENST00000361255.3_Missense_Mutation_p.Y1860N|TRPM6_ENST00000360774.1_Missense_Mutation_p.Y1865N|TRPM6_ENST00000449912.2_Missense_Mutation_p.Y1860N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1865	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAATGGCAGTAGATTAAGAAA	0.453000													8	66					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243385065	243385065	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:243385065C>T	ENST00000366542.1	-	3	207	c.156G>A	c.(154-156)acG>acA	p.T52T	CEP170_ENST00000366543.1_Silent_p.T52T|CEP170_ENST00000366544.1_Silent_p.T52T	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	52	FHA.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AATGCTCATCCGTAGACGCAT	0.333000													10	17					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626942	128626942	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:128626942G>T	ENST00000335251.5	+	11	1866	c.1763G>T	c.(1762-1764)aGa>aTa	p.R588I	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	588										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCTGAAGGAAGATATTTTTTG	0.408000													25	165					5.35356e-11	8.57899e-11	1	1	0
C7orf57	136288	broad.mit.edu	37	7	48080933	48080933	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:48080933T>A	ENST00000348904.3	+	3	270	c.58T>A	c.(58-60)Tgg>Agg	p.W20R	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.W65R|C7orf57_ENST00000539619.1_Missense_Mutation_p.W20R|C7orf57_ENST00000430738.1_Missense_Mutation_p.W65R	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	20										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTCTATAGATTGGTATTACCA	0.567000													4	51					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74089345	74089345	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:74089345A>G	ENST00000394070.2	+	10	1737	c.1234A>G	c.(1234-1236)Act>Gct	p.T412A	STAMBP_ENST00000409707.1_Missense_Mutation_p.T412A|STAMBP_ENST00000394073.1_Missense_Mutation_p.T412A|STAMBP_ENST00000339566.3_Missense_Mutation_p.T412A|STAMBP_ENST00000486458.1_3'UTR	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	412					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAGCCACGTGACTGTTGTGGA	0.428000													10	49					0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49729948	49729948	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:49729948C>A	ENST00000334221.3	-	1	1023	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	105	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GGCACGTAGCCGGCAGCGGGC	0.736000													6	4					0.00116845	0.00133982	1	1	0
BTK	695	broad.mit.edu	37	X	100625027	100625027	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:100625027G>A	ENST00000308731.7	-	5	513	c.350C>T	c.(349-351)aCt>aTt	p.T117I	BTK_ENST00000372880.1_Missense_Mutation_p.T117I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	117	PH.		T -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGTTCTTCAGTTGGGGAGAA	0.418000									Agammaglobulinemia, X-linked				15	107					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132562035	132562035	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:132562035G>T	ENST00000333577.4	+	54	9406	c.9297G>T	c.(9295-9297)gtG>gtT	p.V3099V	EP400_ENST00000389562.2_Silent_p.V3062V|EP400_ENST00000330386.6_Silent_p.V2982V|EP400_ENST00000332482.4_Silent_p.V3026V|EP400_ENST00000389561.2_Silent_p.V3063V			Q96L91	EP400_HUMAN	E1A binding protein p400	3099					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGCCCAGGTGGTTCAGCAGA	0.682000													6	66					0.00116845	0.00133982	1	1	0
XPOT	11260	broad.mit.edu	37	12	64815144	64815144	+	Missense_Mutation	SNP	A	A	G	rs141202142	byFrequency	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:64815144A>G	ENST00000332707.5	+	9	1502	c.973A>G	c.(973-975)Att>Gtt	p.I325V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	325	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ACTACAAGCTATTGAAACAAA	0.318000													23	82					0	0	1	0	0
VPS29	51699	broad.mit.edu	37	12	110933846	110933846	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:110933846C>T	ENST00000549578.1	-	2	231	c.166G>A	c.(166-168)Gtt>Att	p.V56I	VPS29_ENST00000360579.7_Missense_Mutation_p.V60I|VPS29_ENST00000546588.1_Missense_Mutation_p.V88I|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	56					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACAATATGAACATCACCAGCC	0.393000													6	90					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607377	84607377	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:84607377C>A	ENST00000344803.2	+	4	2039	c.1992C>A	c.(1990-1992)ttC>ttA	p.F664L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GAAAGTCCTTCAAGGTCCATG	0.478000													6	100					0.000157383	0.000186689	1	1	0
POU5F1B	5462	broad.mit.edu	37	8	128429069	128429069	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:128429069G>T	ENST00000465342.2	+	2	2115	c.958G>T	c.(958-960)Ggt>Tgt	p.G320C	POU5F1B_ENST00000391675.1_Missense_Mutation_p.G320C|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GCCCCATTTTGGTACCCCAGG	0.582000													6	18					0.217242	0.219368	1	1	0
TENM4	26011	broad.mit.edu	37	11	78369407	78369407	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:78369407T>C	ENST00000278550.7	-	34	8468	c.8006A>G	c.(8005-8007)cAg>cGg	p.Q2669R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCCCCGTACTGGAGCTGGAT	0.607000													4	35					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336206	147336206	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:147336206G>T	ENST00000361727.3	+	13	2422	c.1906G>T	c.(1906-1908)Gtg>Ttg	p.V636L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	636	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGAGGACAAAGTGTGGACCAT	0.463000										HNSCC(39;0.1)			32	130					8.53417e-09	1.2546e-08	1	1	0
JAG2	3714	broad.mit.edu	37	14	105612832	105612832	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:105612832C>T	ENST00000331782.3	-	22	3002	c.2599G>A	c.(2599-2601)Ggg>Agg	p.G867R	JAG2_ENST00000347004.2_Missense_Mutation_p.G829R	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	867					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)		CTCCCGAACCCGATCACTGTG	0.682000													14	52					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967644	87967644	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:87967644A>C	ENST00000369577.3	+	8	4340	c.4297A>C	c.(4297-4299)Aat>Cat	p.N1433H	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1428H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATGCAGTAAATTTGCAGCA	0.423000													19	142					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492399	73492399	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:73492399C>T	ENST00000314256.7	+	24	3484	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	KIAA0195_ENST00000579208.1_Silent_p.S681S|KIAA0195_ENST00000375248.5_Silent_p.S1040S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1030					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGTTGCTCCTGGGAGACCT	0.627000													21	58					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924236	45924236	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:45924236G>T	ENST00000395629.2	+	5	1218	c.888G>T	c.(886-888)cgG>cgT	p.R296R	MAPK8IP1_ENST00000241014.2_Silent_p.R306R			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	306					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CTGAGAGCCGGATGTCAGTCA	0.662000													3	25					0.004672	0.00516221	1	1	0
FCGR1A	2209	broad.mit.edu	37	1	149755764	149755764	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:149755764G>C	ENST00000369168.4	+	3	312	c.258G>C	c.(256-258)caG>caC	p.Q86H	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	86	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAGGTGCCAGAGAGGTCTCT	0.537000													14	77					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4164240	4164240	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:4164240C>A	ENST00000294016.3	-	2	1742	c.1204G>T	c.(1204-1206)Ggc>Tgc	p.G402C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	402	Guanylate cyclase 1.				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGTGAAGCCCACGATATCT	0.502000													11	83					3.07112e-06	3.97167e-06	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242815228	242815228	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:242815228G>C	ENST00000343216.3	+	2	1549	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	507						integral to membrane											ATTACCAGAAGAGGCAGCTGA	0.662000													10	107					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882965	126882965	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:126882965C>A	ENST00000339582.2	-	2	1102	c.294G>T	c.(292-294)ctG>ctT	p.L98L	GRM8_ENST00000405249.1_Silent_p.L98L|GRM8_ENST00000444921.2_Silent_p.L98L|GRM8_ENST00000358373.3_Silent_p.L98L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	98					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGCGGACACCCAGAGTGATGT	0.488000										HNSCC(24;0.065)			20	67					9.7654e-05	0.000117185	1	1	0
N4BP3	23138	broad.mit.edu	37	5	177547593	177547593	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:177547593G>A	ENST00000274605.5	+	3	1104	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	249						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCCCCCTACGAGTTCTCCTG	0.667000													9	38					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21883951	21883951	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:21883951T>A	ENST00000399982.2	-	5	1896	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E332V|CHD8_ENST00000557364.1_Missense_Mutation_p.E611V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	611					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGGATAGGCTCAGGTTTTAT	0.423000													25	111					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	556008	556008	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:556008G>A	ENST00000230449.4	-	19	2073	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	EXOC2_ENST00000448181.3_Silent_p.F241F	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	646					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TAGGTTGTTGGAAGACCTGTA	0.343000													15	105					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717508	142717508	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:142717508G>T	ENST00000381779.4	-	2	1642	c.1417C>A	c.(1417-1419)Cca>Aca	p.P473T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P473T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P473T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	473						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAATTTGGCATGGAGTCA	0.393000													24	126					6.36457e-07	8.61974e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419676	105419676	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:105419676C>T	ENST00000333244.5	-	7	2231	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	704						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGCCTCCACCTTCGGCGCAG	0.612000													13	239					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33313130	33313130	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:33313130G>T	ENST00000378526.4	+	3	804	c.671G>T	c.(670-672)cGg>cTg	p.R224L	LIG3_ENST00000586407.1_3'UTR|LIG3_ENST00000262327.5_Missense_Mutation_p.R224L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	224			R -> W (in dbSNP:rs3744356).		base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACCAATCCCCGGAAATTTTCT	0.443000								Other BER factors					24	219					1.96895e-08	2.85387e-08	1	1	0
MAP4	4134	broad.mit.edu	37	3	47951053	47951053	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:47951053C>A	ENST00000426837.2	-	10	4996	c.4909G>T	c.(4909-4911)Gtt>Ttt	p.V1637F	MAP4_ENST00000264724.11_Missense_Mutation_p.V227F|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	994					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GGAATCTGAACTGCAACAGAC	0.423000													12	186					9.31168e-06	1.19226e-05	1	1	0
TENM1	10178	broad.mit.edu	37	X	123637455	123637455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:123637455C>A	ENST00000422452.2	-	19	3463	c.3400G>T	c.(3400-3402)Gga>Tga	p.G1134*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.G1134*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GACCAGCCTCCTAGGTTAGAA	0.368000													38	275					1.07121e-22	1.97408e-22	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50318463	50318463	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:50318463G>A	ENST00000404971.1	-	20	5175	c.3836C>T	c.(3835-3837)gCa>gTa	p.A1279V	NRXN1_ENST00000401710.1_Missense_Mutation_p.A257V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1231V|NRXN1_ENST00000342183.5_Missense_Mutation_p.A204V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1239V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1239V|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1239V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1231V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGCTTACCTGCAGGGTAGCG	0.448000													27	212					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976541	74976541	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:74976541C>G	ENST00000261978.4	-	21	3559	c.3173G>C	c.(3172-3174)cGg>cCg	p.R1058P	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1058P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1058	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCATGAGGCCCGGCTGGCACA	0.612000													20	74					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869192	31869192	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:31869192G>C	ENST00000334058.2	-	1	259	c.237C>G	c.(235-237)ttC>ttG	p.F79L		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	79						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGGTTAAATTGAATGATCTTC	0.358000													10	155					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296273	10296273	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:10296273C>G	ENST00000403437.2	-	37	5432	c.5338G>C	c.(5338-5340)Gcc>Ccc	p.A1780P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1780					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCAGGTGGGCGCTGGTGTCC	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	164					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052763	97052763	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:97052763C>T	ENST00000326771.2	+	4	677	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FHL5_ENST00000541107.1_Silent_p.S99S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	99	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACGAGTGCTCCTCCAAGTGCT	0.517000													7	78					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33386978	33386978	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:33386978C>A	ENST00000539936.1	-	4	495	c.257G>T	c.(256-258)gGc>gTc	p.G86V	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G29V			O14520	AQP7_HUMAN	aquaporin 7	86					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGAGATGCGGCCTGCCACGTG	0.582000													7	140					0.0381472	0.0396854	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118647436	118647436	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:118647436G>T	ENST00000354673.2	-	5	721	c.341C>A	c.(340-342)aCt>aAt	p.T114N	IGSF11_ENST00000393775.2_Missense_Mutation_p.T115N|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Missense_Mutation_p.T114N|IGSF11_ENST00000441144.2_Missense_Mutation_p.T114N|IGSF11_ENST00000491903.1_Missense_Mutation_p.T115N|IGSF11_ENST00000489689.1_Missense_Mutation_p.T115N	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	115	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTAGGTGCCAGTGTCTGATAA	0.512000													11	60					2.80697e-09	4.16207e-09	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87339212	87339212	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:87339212C>A	ENST00000304053.6	+	8	1277	c.794C>A	c.(793-795)tCt>tAt	p.S265Y	NTRK2_ENST00000323115.4_Missense_Mutation_p.S265Y|NTRK2_ENST00000376214.1_Missense_Mutation_p.S265Y|NTRK2_ENST00000359847.3_Missense_Mutation_p.S265Y|NTRK2_ENST00000395866.2_Missense_Mutation_p.S109Y|NTRK2_ENST00000376208.1_Missense_Mutation_p.S265Y|NTRK2_ENST00000277120.3_Missense_Mutation_p.S265Y|NTRK2_ENST00000376213.1_Missense_Mutation_p.S265Y|NTRK2_ENST00000395882.1_Missense_Mutation_p.S265Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	265	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AAGCAGATCTCTTGTGTGGCG	0.388000										TSP Lung(25;0.17)			43	176					1.34996e-11	2.18364e-11	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50149279	50149279	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:50149279G>T	ENST00000404971.1	-	24	5786	c.4447C>A	c.(4447-4449)Ctg>Atg	p.L1483M	NRXN1_ENST00000401710.1_Missense_Mutation_p.L431M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L1435M|NRXN1_ENST00000342183.5_Missense_Mutation_p.L378M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1443M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L1413M|NRXN1_ENST00000406316.2_Missense_Mutation_p.L1413M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1435M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1413					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGATGCACAGGGCGGCAGCG	0.562000													10	59					1.33987e-11	2.17413e-11	1	1	0
PTCD1	26024	broad.mit.edu	37	7	99022942	99022942	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:99022942T>C	ENST00000292478.4	-	6	1463	c.1213A>G	c.(1213-1215)Aga>Gga	p.R405G	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R454G|PTCD1_ENST00000555673.1_Missense_Mutation_p.R454G	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGGCACTCTGGCTTCCGGA	0.632000													29	134					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								4	52					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882966	126882966	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:126882966A>T	ENST00000339582.2	-	2	1101	c.293T>A	c.(292-294)cTg>cAg	p.L98Q	GRM8_ENST00000405249.1_Missense_Mutation_p.L98Q|GRM8_ENST00000444921.2_Missense_Mutation_p.L98Q|GRM8_ENST00000358373.3_Missense_Mutation_p.L98Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	98					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCGGACACCCAGAGTGATGTT	0.493000										HNSCC(24;0.065)			20	66					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111599	142111599	+	RNA	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:142111599G>A	ENST00000390378.1	-	0	136																											GGTGTGCCCAGAGATAGGAGA	0.532000													32	111					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38047450	38047450	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:38047450A>G	ENST00000261439.4	+	10	1910	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R519G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	519						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TAATAAAGCCAGAGGCCTGCA	0.428000													14	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566707	55566707	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:55566707G>T	ENST00000373965.2	-	36	5081	c.4687C>A	c.(4687-4689)Ctc>Atc	p.L1563I	PCDH15_ENST00000414778.1_Missense_Mutation_p.L1560I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	414					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTCCGTGAGGCAGGCACGG	0.468000										HNSCC(58;0.16)			36	147					7.11191e-15	1.21918e-14	1	1	0
TCEAL5	340543	broad.mit.edu	37	X	102528906	102528906	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:102528906C>A	ENST00000372680.1	-	3	880	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTTCTGGCCCCTACCTCCG	0.493000													22	114					9.95505e-16	1.74129e-15	1	1	0
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:6924043G>T	ENST00000011653.4	+	5	750	c.492G>T	c.(490-492)caG>caT	p.Q164H	CD4_ENST00000541982.1_Missense_Mutation_p.Q109H|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAACATACAGGGGGGGAAGA	0.567000													5	64					0.00116845	0.00133982	1	1	0
CERS3	204219	broad.mit.edu	37	15	101031075	101031075	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:101031075G>A	ENST00000284382.4	-	5	658	c.235C>T	c.(235-237)Cca>Tca	p.P79S	CERS3_ENST00000538112.2_Missense_Mutation_p.P79S|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.P79S	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	79						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACAGTATTTGGTGTAACCTTT	0.303000													11	68					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017653	1017653	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:1017653G>T	ENST00000421673.2	-	31	5198	c.5148C>A	c.(5146-5148)ccC>ccA	p.P1716P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1716	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGGGTTGGGGGTGATGT	0.522000													29	555					1.77063e-15	3.08664e-15	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105876407	105876407	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:105876407G>T	ENST00000372548.4	+	6	1337	c.1228G>T	c.(1228-1230)Ggt>Tgt	p.G410C	CXorf57_ENST00000372544.2_Missense_Mutation_p.G410C	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	410										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CATTGCTGACGGTACTTCAGA	0.303000													11	125					0.00829132	0.00910281	1	1	0
HCN1	348980	broad.mit.edu	37	5	45396759	45396759	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:45396759G>T	ENST00000303230.4	-	4	1122	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	355						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCACAGCATGTGACTCATAG	0.473000													11	89					3.07112e-06	3.97167e-06	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238296688	238296688	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:238296688C>A	ENST00000295550.4	-	4	1301	c.849G>T	c.(847-849)gtG>gtT	p.V283V	COL6A3_ENST00000353578.4_Silent_p.V77V|COL6A3_ENST00000346358.4_Silent_p.V283V|COL6A3_ENST00000409809.1_Silent_p.V77V|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Silent_p.V77V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	283	Nonhelical region.|VWFA 2.				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)		TAAACTGGACCACCCCCACTC	0.522000													11	90					3.86212e-05	4.77903e-05	1	1	0
PRAME	23532	broad.mit.edu	37	22	22890790	22890790	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:22890790G>T	ENST00000543184.1	-	5	2091	c.1229C>A	c.(1228-1230)aCc>aAc	p.T410N	PRAME_ENST00000402697.1_Missense_Mutation_p.T410N|PRAME_ENST00000539862.1_Missense_Mutation_p.T394N|PRAME_ENST00000398743.2_Missense_Mutation_p.T410N|PRAME_ENST00000405655.3_Missense_Mutation_p.T410N|PRAME_ENST00000398741.1_Missense_Mutation_p.T410N|PRAME_ENST00000424204.2_Missense_Mutation_p.T394N	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	410					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GAAGCTTAAGGTTGTAAGCTG	0.557000													9	62					0.00448238	0.004974	1	1	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:7578457C>G	ENST00000420246.2	-	5	605	c.473G>C	c.(472-474)cGc>cCc	p.R158P	TP53_ENST00000269305.4_Missense_Mutation_p.R158P|TP53_ENST00000413465.2_Missense_Mutation_p.R158P|TP53_ENST00000445888.2_Missense_Mutation_p.R158P|TP53_ENST00000359597.4_Missense_Mutation_p.R158P|TP53_ENST00000455263.2_Missense_Mutation_p.R158P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	55					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373367	86373367	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:86373367A>G	ENST00000604798.1	-	8	2341	c.1137T>C	c.(1135-1137)ttT>ttC	p.F379F	MGAT4C_ENST00000332156.1_Silent_p.F379F|MGAT4C_ENST00000549405.2_Silent_p.F379F|MGAT4C_ENST00000393205.2_Silent_p.F408F|MGAT4C_ENST00000552808.2_Silent_p.F379F|MGAT4C_ENST00000548651.1_Silent_p.F379F			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	379					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATACAATCACAAAAACATCTC	0.338000													7	33					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511368	129511368	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:129511368G>T	ENST00000421865.2	+	11	1535	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	496	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGGAGGAGACTGTAGTCG	0.408000													4	63					0.00024832	0.000293211	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2910038	2910038	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:2910038C>A	ENST00000602557.1	-	51	8164	c.7609G>T	c.(7609-7611)Gtg>Ttg	p.V2537L	CSMD1_ENST00000602723.1_Missense_Mutation_p.V2537L|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2536L|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2536L|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2537L|CSMD1_ENST00000520002.1_Missense_Mutation_p.V2537L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2537	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTGACACACGGCTGTTGCT	0.502000													3	10					0.150653	0.152725	1	1	0
TAB1	10454	broad.mit.edu	37	22	39817937	39817937	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:39817937G>A	ENST00000216160.6	+	8	944	c.882G>A	c.(880-882)aaG>aaA	p.K294K	TAB1_ENST00000331454.3_Silent_p.K294K	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	294	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTTGTACAAGGCCCTAGAGG	0.637000													7	34					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70279240	70279240	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:70279240A>T	ENST00000301843.8	+	16	1506	c.1300A>T	c.(1300-1302)Aga>Tga	p.R434*	CTTN_ENST00000538675.1_Nonsense_Mutation_p.R118*|CTTN_ENST00000376561.3_Nonsense_Mutation_p.R397*|CTTN_ENST00000346329.3_Nonsense_Mutation_p.R397*	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	434						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCTGAGCTACAGAGGCCCTGT	0.637000													5	74					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009255	88009255	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:88009255C>G	ENST00000276127.4	+	3	1099	c.840C>G	c.(838-840)atC>atG	p.I280M	CPXCR1_ENST00000373111.1_Missense_Mutation_p.I280M	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	280						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTGTCCCATCTGTGGAAGGC	0.294000													10	52					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526281	16526281	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:16526281T>C	ENST00000311331.7	-	6	2010	c.1919A>G	c.(1918-1920)tAt>tGt	p.Y640C		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATAACATTTATAGGGTTTCAC	0.368000													38	165					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118724569	118724569	+	Silent	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:118724569G>C	ENST00000371527.1	-	2	1471	c.819C>G	c.(817-819)ctC>ctG	p.L273L	NKRF_ENST00000304449.5_Silent_p.L273L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.L288L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	273	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTTTCTGCAAGAGTTTTACAG	0.443000													16	145					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56399715	56399715	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:56399715C>A	ENST00000355701.3	-	10	2246	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R399L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R459L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	459						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGGCTGAGCCGAGCCTGTTC	0.642000													8	62					1.76689e-08	2.56822e-08	1	1	0
MYPN	84665	broad.mit.edu	37	10	69881414	69881414	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:69881414C>T	ENST00000358913.5	+	2	707	c.219C>T	c.(217-219)gaC>gaT	p.D73D	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.D73D|MYPN_ENST00000540630.1_Silent_p.D73D	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	73	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGAATTAGACGAAAGTGTCA	0.488000													23	80					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069297	6069297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:6069297C>A	ENST00000381095.3	-	2	838	c.211G>T	c.(211-213)Gag>Tag	p.E71*	NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.E71*|NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.E71*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.E71*|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.E71*|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	71					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGTACTGCTCCACTGGACCC	0.547000													12	90					0.00136819	0.00156192	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248309286	248309286	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:248309286C>A	ENST00000366476.1	+	1	837	c.837C>A	c.(835-837)acC>acA	p.T279T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TATTCTACACCATCCTCACTC	0.517000													13	144					0.0167234	0.0178291	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812531	140812531	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:140812531G>A	ENST00000252085.3	+	1	2347	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGGAGCGCCGGCGTCGC	0.647000													23	90					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135406163	135406163	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:135406163C>T	ENST00000354042.4	-	2	897	c.208G>A	c.(208-210)Gga>Aga	p.G70R	AC091736.10_ENST00000378428.3_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	70						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGGAGGACTCCGAAGAACGGG	0.602000													4	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129823803	129823803	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:129823803G>C	ENST00000421865.2	+	59	8293		c.e59-1		LAMA2_ENST00000498257.1_Splice_Site	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTATTTTACAGGGTCCTTGTG	0.388000													10	43					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47262390	47262390	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:47262390T>A	ENST00000396220.1	-	26	3533	c.3512_splice	c.e26+1	p.S1171_splice	PREX1_ENST00000371941.3_Splice_Site_p.S1171_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1171					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GACACCCACCTGTAGGAGTCG	0.592000													3	29					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773566	43773566	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:43773566G>T	ENST00000244293.7	-	1	84	c.18C>A	c.(16-18)gcC>gcA	p.A6A	PSG9_ENST00000596730.1_Silent_p.A6A|PSG9_ENST00000418820.2_Silent_p.A6A|PSG9_ENST00000291752.5_Silent_p.A6A|PSG9_ENST00000270077.3_Silent_p.A6A|PSG9_ENST00000593948.1_Silent_p.A6A|PSG9_ENST00000443718.3_Silent_p.A6A			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	6					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGCAGGAAGGGGCTGGGAGGG	0.617000													18	109					2.37509e-13	3.97905e-13	1	1	0
ACAN	176	broad.mit.edu	37	15	89401655	89401655	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:89401655C>A	ENST00000439576.2	+	12	6213	c.5839C>A	c.(5839-5841)Cag>Aag	p.Q1947K	ACAN_ENST00000559004.1_Missense_Mutation_p.Q1947K|ACAN_ENST00000352105.7_Missense_Mutation_p.Q1947K|ACAN_ENST00000561243.1_Missense_Mutation_p.Q1947K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1947					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCTGTAACCCAGGCTCCAAC	0.532000													7	61					0.00198382	0.00223993	1	1	0
EYA1	2138	broad.mit.edu	37	8	72184123	72184123	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:72184123G>T	ENST00000340726.3	-	10	1475	c.836C>A	c.(835-837)aCa>aAa	p.T279K	EYA1_ENST00000388741.2_Missense_Mutation_p.T245K|EYA1_ENST00000388740.3_Missense_Mutation_p.T246K|EYA1_ENST00000303824.7_Missense_Mutation_p.T273K|EYA1_ENST00000419131.1_Missense_Mutation_p.T274K|EYA1_ENST00000388743.2_Missense_Mutation_p.T278K|EYA1_ENST00000388742.4_Missense_Mutation_p.T279K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	279					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGTGGATTGTGCTGTACTC	0.428000													41	307					7.53189e-24	1.39801e-23	1	1	0
PARD3B	117583	broad.mit.edu	37	2	205829958	205829958	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:205829958T>A	ENST00000406610.2	+	3	513	c.306T>A	c.(304-306)gaT>gaA	p.D102E	PARD3B_ENST00000358768.2_Missense_Mutation_p.D102E|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102E|PARD3B_ENST00000351153.1_Missense_Mutation_p.D102E|PARD3B_ENST00000462231.1_Missense_Mutation_p.D102E	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	102					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGAGCCCAGATGCTTTTGAGA	0.483000													7	37					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189871694	189871694	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:189871694C>A	ENST00000304636.3	+	44	3403	c.3233C>A	c.(3232-3234)cCt>cAt	p.P1078H	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1078	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCTCCCGGTCCTGCTGGTTCC	0.388000													14	39					1.15088e-07	1.61373e-07	1	1	0
TFDP1	7027	broad.mit.edu	37	13	114287474	114287474	+	Silent	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr13:114287474A>G	ENST00000375370.5	+	6	560	c.348A>G	c.(346-348)ctA>ctG	p.L116L	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Silent_p.L21L|TFDP1_ENST00000538138.1_Silent_p.L21L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	116					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCAAGGGCCTACGGCATTTCT	0.532000										TSP Lung(29;0.18)			7	44					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975863	20975863	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:20975863G>T	ENST00000261383.3	-	53	9342	c.9343C>A	c.(9343-9345)Ctg>Atg	p.L3115M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3115	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGTTTTCCAGCATCCTCATG	0.458000													34	171					1.30998e-17	2.35523e-17	1	1	0
NKAIN2	154215	broad.mit.edu	37	6	124604158	124604158	+	Missense_Mutation	SNP	T	T	A	rs150356557		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:124604158T>A	ENST00000368417.1	+	2	122	c.62T>A	c.(61-63)gTg>gAg	p.V21E	NKAIN2_ENST00000368416.1_Missense_Mutation_p.V21E|NKAIN2_ENST00000546092.1_Missense_Mutation_p.V21E|NKAIN2_ENST00000545433.1_Missense_Mutation_p.V6E|NKAIN2_ENST00000476571.1_3'UTR	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	21						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TAGGTTTGTGTGCTGGAGAGG	0.368000													24	148					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183319	39183319	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:39183319C>T	ENST00000361883.5	-	1	135	c.89G>A	c.(88-90)tGt>tAt	p.C30Y		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	30	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTCACAGCAGCTTGG	0.597000													10	62					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596279	53596279	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:53596279C>A	ENST00000025008.5	-	5	722	c.198_splice	c.e5-1	p.D67_splice	RB1CC1_ENST00000435644.2_Splice_Site_p.D67_splice|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Splice_Site_p.D67_splice	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	67					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GGATTTGTATCCTATATTTTT	0.289000													3	27					0.115264	0.118008	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24788553	24788553	+	Silent	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:24788553A>T	ENST00000310677.4	-	23	2936	c.2823T>A	c.(2821-2823)tcT>tcA	p.S941S	ADCY4_ENST00000554068.2_Silent_p.S941S|ADCY4_ENST00000418030.2_Silent_p.S941S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	941					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CATCCTGTCCAGAGGTGGCAT	0.527000													15	93					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616112	35616112	+	Silent	SNP	G	G	T	rs138821361	by1000genomes	TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:35616112G>T	ENST00000310123.3	-	9	2118	c.1599C>A	c.(1597-1599)atC>atA	p.I533I	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	533						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CACTGAGGTCGATCTCGTGAT	0.642000													4	42					0.000602214	0.000701451	1	1	0
NELFB	25920	broad.mit.edu	37	9	140166575	140166575	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:140166575A>G	ENST00000343053.4	+	11	1725	c.1388A>G	c.(1387-1389)cAc>cGc	p.H463R		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		ATCTTCCTCCACCTGCTCACG	0.617000													8	53					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636413	42636413	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:42636413G>A	ENST00000315323.3	+	1	1489	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	453					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CACCAAGACCGAAAAGCTGGA	0.602000													7	88					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564270	139564270	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:139564270G>A	ENST00000358430.3	-	10	1680	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	483						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGATCCACAGAGACGTTTGA	0.448000													7	128					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261311	6261311	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:6261311G>T	ENST00000379936.2	+	4	402	c.287G>T	c.(286-288)gGc>gTc	p.G96V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	96					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGAACAGGGCATCCTGGTG	0.597000													17	90					9.16793e-09	1.34394e-08	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44128063	44128063	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:44128063C>A	ENST00000262419.6	-	7	2326	c.1856G>T	c.(1855-1857)cGg>cTg	p.R619L	KANSL1_ENST00000575318.1_Missense_Mutation_p.R619L|KANSL1_ENST00000574590.1_Missense_Mutation_p.R619L|KANSL1_ENST00000572904.1_Missense_Mutation_p.R619L|KANSL1_ENST00000432791.1_Missense_Mutation_p.R619L|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	619						MLL1 complex	protein binding										TGTGCTGTTCCGGTGAACCTG	0.468000													9	30					0.000274275	0.00032165	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158581060	158581060	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:158581060G>T	ENST00000368148.3	-	52	7434	c.7254C>A	c.(7252-7254)ggC>ggA	p.G2418G	SPTA1_ENST00000368147.3_Silent_p.G2415G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2418				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTATTAGTTGCCAAAGTAGG	0.468000													13	49					1.5842e-08	2.31571e-08	1	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156389	70156389	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:70156389G>T	ENST00000335568.5	+	5	1172	c.1170G>T	c.(1168-1170)atG>atT	p.M390I	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	390					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGATCCCTATGGTAGGCATTC	0.448000													30	198					7.01153e-11	1.1098e-10	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100821582	100821582	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:100821582C>A	ENST00000268070.4	-	4	746	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	214					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGCGAAGGCCTGCCCCACGT	0.582000													8	34					2.27111e-07	3.15874e-07	1	1	0
MYF5	4617	broad.mit.edu	37	12	81110984	81110984	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:81110984G>T	ENST00000228644.3	+	1	294	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	48					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAGCTGCAGGGCTCAGATGA	0.632000													6	37					0.00198382	0.00223993	1	1	0
NUDCD1	84955	broad.mit.edu	37	8	110255367	110255367	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:110255367C>A	ENST00000239690.4	-	10	1997	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	NUDCD1_ENST00000427660.2_Missense_Mutation_p.Q512H	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	541										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GCTTAGCAACCTGTCCTACTT	0.438000													103	269					8.98033e-41	1.70362e-40	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89061257	89061257	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr14:89061257G>T	ENST00000555900.1	+	1	499	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Missense_Mutation_p.V63L|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Missense_Mutation_p.V63L|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000302216.8_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	0						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TATTTTGACAGTGGAAGCAAA	0.313000													7	33					0.248553	0.250494	1	1	0
MACF1	23499	broad.mit.edu	37	1	39845039	39845039	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:39845039G>A	ENST00000564288.1	+	54	14218	c.13441G>A	c.(13441-13443)Gaa>Aaa	p.E4481K	MACF1_ENST00000545844.1_Missense_Mutation_p.E2419K|MACF1_ENST00000567887.1_Missense_Mutation_p.E4518K|MACF1_ENST00000372915.3_Missense_Mutation_p.E4486K|MACF1_ENST00000317713.7_Missense_Mutation_p.E2419K|MACF1_ENST00000539005.1_Missense_Mutation_p.E2398K|MACF1_ENST00000361689.2_Missense_Mutation_p.E2419K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2921K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4486					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAAAAGAGGAAGTCCTGAA	0.468000													32	348					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413367	72413367	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:72413367C>A	ENST00000395270.1	+	14	3081	c.2040C>A	c.(2038-2040)acC>acA	p.T680T	POM121_ENST00000257622.4_Silent_p.T680T|POM121_ENST00000446813.1_Silent_p.T680T|POM121_ENST00000358357.3_Silent_p.T680T|POM121_ENST00000434423.2_Silent_p.T945T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	945	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACACGAGCACCCCCACGTTCA	0.652000													7	103					0.0381472	0.0396854	1	1	0
PLK2	10769	broad.mit.edu	37	5	57755593	57755593	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:57755593G>C	ENST00000274289.3	-	1	494	c.194C>G	c.(193-195)tCg>tGg	p.S65W		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	65					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTCCGGCCCCGAGTGCGAATG	0.687000													3	22					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976695	119976695	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:119976695G>T	ENST00000313400.4	-	3	1057	c.957C>A	c.(955-957)acC>acA	p.T319T	ASTN2_ENST00000373996.3_Silent_p.T319T|ASTN2_ENST00000361209.2_Silent_p.T319T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	319						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAGAGTGTGGGTCACCTGGC	0.562000													26	116					5.45024e-15	9.37441e-15	1	1	0
SATL1	340562	broad.mit.edu	37	X	84363240	84363240	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:84363240T>G	ENST00000509231.1	-	1	814	c.735A>C	c.(733-735)caA>caC	p.Q245H	SATL1_ENST00000395409.3_Missense_Mutation_p.Q58H|SATL1_ENST00000332921.5_Missense_Mutation_p.Q58H			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	58	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGCGTCTGGTTGGCTCATGT	0.463000													23	175					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995009	55995009	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:55995009G>T	ENST00000598519.1	+	3	3002	c.2449G>T	c.(2449-2451)Ggg>Tgg	p.G817W	ZNF628_ENST00000391718.2_Missense_Mutation_p.G813W	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	813	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGAAATGAGTGGGGTGCAGCT	0.677000													20	63					3.62473e-10	5.56655e-10	1	1	0
AMPD1	270	broad.mit.edu	37	1	115222973	115222973	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:115222973C>A	ENST00000369538.3	-	5	808	c.761G>T	c.(760-762)aGc>aTc	p.S254I	AMPD1_ENST00000520113.2_Missense_Mutation_p.S258I|AMPD1_ENST00000353928.6_Missense_Mutation_p.S225I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	225					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTCATCTTTGCTGACTGCTGC	0.443000													11	146					3.07112e-06	3.97167e-06	1	1	0
FAT4	79633	broad.mit.edu	37	4	126367576	126367576	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:126367576G>T	ENST00000394329.3	+	8	7335	c.7322G>T	c.(7321-7323)gGa>gTa	p.G2441V	FAT4_ENST00000335110.5_Missense_Mutation_p.G739V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2441	Cadherin 23.				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						AGTGATGCGGGATCCCCAGAG	0.458000													30	146					1.22384e-17	2.21579e-17	1	1	0
FER1L6	654463	broad.mit.edu	37	8	124985674	124985674	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:124985674G>T	ENST00000522917.1	+	7	654	c.447_splice	c.e7-1	p.V150_splice	FER1L6_ENST00000399018.1_Splice_Site_p.V150_splice	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	150	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTCCTCAGGTCTTTCACCA	0.493000													40	78					1.30998e-17	2.35523e-17	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563600	140563600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:140563600C>A	ENST00000361016.2	+	1	2621	c.1466C>A	c.(1465-1467)tCg>tAg	p.S489*		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		489	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S489L(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.662000													34	142					1.52319e-26	2.86848e-26	1	1	0
SRPK3	26576	broad.mit.edu	37	X	153046700	153046700	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:153046700C>T	ENST00000489426.1	+	8	2656	c.290C>T	c.(289-291)tCg>tTg	p.S97L	SRPK3_ENST00000370104.1_Missense_Mutation_p.S30L|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370101.3_Missense_Mutation_p.S30L|SRPK3_ENST00000370108.3_Missense_Mutation_p.S30L|SRPK3_ENST00000393786.3_Missense_Mutation_p.S30L			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	30	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGAGTCCTCGGGCTCCGAA	0.682000													3	20					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120428831	120428831	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:120428831A>G	ENST00000354960.3	-	16	2436	c.2117T>C	c.(2116-2118)aTt>aCt	p.I706T	PDE5A_ENST00000264805.5_Missense_Mutation_p.I664T|PDE5A_ENST00000394439.1_Missense_Mutation_p.I654T|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	706	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATATTCTTCAATGGAGAGGCC	0.333000													4	58					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523749	95523749	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:95523749C>A	ENST00000297591.5	-	13	3129	c.3054G>T	c.(3052-3054)acG>acT	p.T1018T	KIAA1429_ENST00000437199.1_Silent_p.T1018T|KIAA1429_ENST00000421249.2_Silent_p.T1018T|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1018					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCAGGAGTTCCGTTAACATAG	0.473000													12	60					3.07112e-06	3.97167e-06	1	1	0
PPAPDC3	84814	broad.mit.edu	37	9	134183564	134183564	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:134183564C>A	ENST00000372264.3	+	2	1010	c.706C>A	c.(706-708)Cac>Aac	p.H236N		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	236						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGGCCGCCACCACGTCACGGA	0.657000													4	40					5.9392e-07	8.06481e-07	1	1	0
CATSPERG	57828	broad.mit.edu	37	19	38858213	38858213	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:38858213G>T	ENST00000409235.3	+	24	2949		c.e24+1		CATSPERG_ENST00000410018.1_Splice_Site|CATSPERG_ENST00000215069.4_Splice_Site	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCAGGGCAGGTAAAGGCGTG	0.557000													48	445					5.34276e-22	9.7761e-22	1	1	0
SYT10	341359	broad.mit.edu	37	12	33592414	33592414	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:33592414T>C	ENST00000228567.3	-	1	340	c.44A>G	c.(43-45)aAg>aGg	p.K15R	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	15						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTGCAGAGCCTTCTGGCACAG	0.562000													19	193					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67250456	67250456	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:67250456C>A	ENST00000392676.3	-	32	4308	c.4244_splice	c.e32+1	p.R1415_splice	ABCA5_ENST00000392677.2_Splice_Site_p.R1416_splice|ABCA5_ENST00000588877.1_Splice_Site_p.R1415_splice			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1415	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATTATTTTACCGACTTATGAC	0.323000													8	111					0.000274275	0.00032165	1	1	0
FCAR	2204	broad.mit.edu	37	19	55399671	55399671	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:55399671G>T	ENST00000469767.1	+	4	669	c.659G>T	c.(658-660)cGc>cTc	p.R220L	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000355524.3_Intron	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGTAGGTACCGCCCAGTCCAG	0.577000													10	22					6.40141e-05	7.80881e-05	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33413727	33413727	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:33413727G>C	ENST00000404816.2	+	7	1863	c.1510G>C	c.(1510-1512)Gat>Cat	p.D504H	LTBP1_ENST00000354476.3_Missense_Mutation_p.D504H|LTBP1_ENST00000418533.2_Missense_Mutation_p.D178H|LTBP1_ENST00000402934.1_Missense_Mutation_p.D178H|LTBP1_ENST00000404525.1_Missense_Mutation_p.D178H|LTBP1_ENST00000390003.4_Missense_Mutation_p.D178H|LTBP1_ENST00000407925.1_Missense_Mutation_p.D178H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	504					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCAAGAATTGATGGCCCAAC	0.468000													15	90					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43704715	43704715	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:43704715A>T	ENST00000398437.1	+	8	1366	c.1218A>T	c.(1216-1218)aaA>aaT	p.K406N	ABCG1_ENST00000340588.4_Missense_Mutation_p.K368N|ABCG1_ENST00000343687.3_Missense_Mutation_p.K271N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.K257N|ABCG1_ENST00000398457.2_Missense_Mutation_p.K262N|ABCG1_ENST00000398449.3_Missense_Mutation_p.K260N|ABCG1_ENST00000361802.2_Missense_Mutation_p.K260N			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	260					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CGCTGATGAAAGGGCTCGCTC	0.657000													11	42					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309769	45309769	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr22:45309769G>T	ENST00000313237.5	-	5	914	c.764C>A	c.(763-765)cCa>cAa	p.P255Q	PHF21B_ENST00000404079.2_Missense_Mutation_p.P201Q|PHF21B_ENST00000403565.1_Missense_Mutation_p.P51Q|PHF21B_ENST00000396103.3_Missense_Mutation_p.P213Q|PHF21B_ENST00000447824.3_Missense_Mutation_p.P201Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	255							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TCCCTGAGATGGCTCCTCTGT	0.642000													27	109					1.75199e-13	2.9447e-13	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48629629	48629629	+	Silent	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:48629629C>A	ENST00000328333.8	-	9	1253	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	COL7A1_ENST00000454817.1_Silent_p.L382L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	382	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAGTCACGCAGCAACACTG	0.647000													16	89					2.48551e-13	4.15055e-13	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167411	140167411	+	Silent	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:140167411G>C	ENST00000504120.2	+	1	1536	c.1536G>C	c.(1534-1536)gcG>gcC	p.A512A	PCDHA1_ENST00000378133.3_Silent_p.A512A|PCDHA1_ENST00000394633.3_Silent_p.A512A	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701000													27	94					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936776	15936776	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:15936776G>T	ENST00000504595.1	+	4	1438	c.957G>T	c.(955-957)ctG>ctT	p.L319L	FBXL7_ENST00000329673.7_Silent_p.L307L|FBXL7_ENST00000510662.1_Silent_p.L272L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	319					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGCGCTACCTGGTGATCTACT	0.672000													6	24					0.000157383	0.000186689	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921446	247921446	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:247921446C>G	ENST00000408896.2	-	1	536	c.263G>C	c.(262-264)gGc>gCc	p.G88A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGTCTTGGTGCCAGTCAAGAT	0.458000													5	45					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176004515	176004515	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:176004515C>T	ENST00000510636.1	+	13	1584	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	CDHR2_ENST00000506348.1_Missense_Mutation_p.A437V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A437V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	437	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGAGTATCCGCGCTGGTGGAC	0.687000													5	21					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183884240	183884240	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:183884240G>A	ENST00000313143.3	+	9	1158	c.910G>A	c.(910-912)Gag>Aag	p.E304K	DVL3_ENST00000431765.1_Missense_Mutation_p.E304K|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	304	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCAGGTAAACGAGATCAACTT	0.532000													12	181					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108389099	108389099	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:108389099T>A	ENST00000265843.4	-	5	604	c.492_splice	c.e5-1	p.Q165_splice	EXPH5_ENST00000443411.1_5'UTR|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Splice_Site_p.Q158_splice|EXPH5_ENST00000428840.1_Splice_Site_p.Q89_splice	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	165					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TATTTTTGCCTGCTAATTTTA	0.423000													5	50					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48746958	48746958	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:48746958C>T	ENST00000314191.2	-	60	8005		c.e60-1		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTCTTCCATCTGTGACATGC	0.592000								Non-homologous end-joining					13	99					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377253	54377253	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:54377253G>T	ENST00000391769.2	+	3	750	c.470G>T	c.(469-471)tGg>tTg	p.W157L	MYADM_ENST00000391770.4_Missense_Mutation_p.W157L|MYADM_ENST00000391771.1_Missense_Mutation_p.W157L|MYADM_ENST00000336967.3_Missense_Mutation_p.W157L|MYADM_ENST00000391768.2_Missense_Mutation_p.W157L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	157	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GAAGTGGCCTGGACCCGGGCC	0.647000													20	58					8.34094e-07	1.12081e-06	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228482481	228482481	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:228482481C>A	ENST00000570156.2	+	48	12757	c.12682_splice	c.e48-1	p.A4228_splice	OBSCN_ENST00000422127.1_Splice_Site_p.A3799_splice|OBSCN_ENST00000366709.4_Splice_Site_p.A918_splice|OBSCN_ENST00000366707.4_Splice_Site_p.A918_splice|OBSCN_ENST00000359599.6_Splice_Site_p.A2646_splice|OBSCN_ENST00000284548.11_Splice_Site_p.A3799_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3271	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCTTCCCAGCCCTGCCTGCC	0.557000													13	161					2.32078e-09	3.45108e-09	1	1	0
TFR2	7036	broad.mit.edu	37	7	100238704	100238704	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:100238704G>C	ENST00000462107.1	-	3	468	c.181C>G	c.(181-183)Ccc>Gcc	p.P61A	TFR2_ENST00000223051.3_Missense_Mutation_p.P61A|TFR2_ENST00000431692.1_Missense_Mutation_p.P61A			Q9UP52	TFR2_HUMAN	transferrin receptor 2	61					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGCCCAGGGGCTCAGGGCCC	0.677000													4	24					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84525896	84525896	+	Silent	SNP	T	T	C			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:84525896T>C	ENST00000395226.2	+	13	1499	c.1281T>C	c.(1279-1281)atT>atC	p.I427I	AGPAT9_ENST00000264409.4_Silent_p.I427I|AGPAT9_ENST00000509044.1_3'UTR	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	427					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GCAAGATGATTGTGGGCAATG	0.393000													9	39					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49148230	49148230	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr15:49148230C>T	ENST00000332408.4	-	8	1590	c.1162G>A	c.(1162-1164)Gtt>Att	p.V388I	SHC4_ENST00000537958.1_Missense_Mutation_p.V102I|SHC4_ENST00000396535.3_Missense_Mutation_p.V145I	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	388	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ATATCTGAAACACCACCTACT	0.428000													19	103					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65435326	65435326	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:65435326C>T	ENST00000304895.4	-	9	1549	c.1419G>A	c.(1417-1419)ttG>ttA	p.L473L	GUSB_ENST00000421103.1_Silent_p.L327L|GUSB_ENST00000345660.6_Silent_p.L422L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	473					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGGAGGGGTCCAAGGATTTGG	0.567000													7	53					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462577	224462577	+	Missense_Mutation	SNP	G	G	C	rs141189708		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:224462577G>C	ENST00000305409.2	-	2	1656	c.1424C>G	c.(1423-1425)tCg>tGg	p.S475W		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	475					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGCTGGTTCGATCTAGATCT	0.443000													20	148					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168445555	168445555	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:168445555G>A	ENST00000443060.2	+	10	1425	c.1034G>A	c.(1033-1035)aGg>aAg	p.R345K	KIF25_ENST00000351261.3_Missense_Mutation_p.R293K|KIF25_ENST00000354419.2_Missense_Mutation_p.R345K			Q9UIL4	KIF25_HUMAN	kinesin family member 25	345					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCAGCCAGAGGCACCTGGCA	0.552000													10	96					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510735	84510735	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:84510735G>A	ENST00000360700.4	+	4	1436	c.550G>A	c.(550-552)Gtt>Att	p.V184I	ZNF711_ENST00000395402.1_Missense_Mutation_p.V162I|ZNF711_ENST00000373165.3_Missense_Mutation_p.V184I|ZNF711_ENST00000276123.3_Missense_Mutation_p.V184I			Q9Y462	ZN711_HUMAN	zinc finger protein 711	184					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGTTCTACAGTTACTATAAA	0.388000													20	81					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73150881	73150881	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr9:73150881G>A	ENST00000377110.2	-	25	5355	c.5112C>T	c.(5110-5112)agC>agT	p.S1704S	TRPM3_ENST00000377105.1_Silent_p.S1563S|TRPM3_ENST00000408909.2_Silent_p.S1563S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Silent_p.S1553S|TRPM3_ENST00000360823.2_Silent_p.S1566S|TRPM3_ENST00000396285.1_Silent_p.S1563S|TRPM3_ENST00000396292.4_Silent_p.S1576S|TRPM3_ENST00000357533.2_Silent_p.S1708S|TRPM3_ENST00000358082.3_Silent_p.S1566S|TRPM3_ENST00000377106.1_Silent_p.S1576S|TRPM3_ENST00000423814.3_Silent_p.S1731S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1729						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTTGTGCTTGCTTTCAAAGC	0.493000													14	112					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839138	150839138	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:150839138A>T	ENST00000397238.2	+	14	1958	c.1959_splice	c.e14+1	p.K653_splice	AGAP3_ENST00000463381.1_Splice_Site_p.K322_splice	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	617	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCCAAGGACAAGGTGGGTACA	0.627000													22	92					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923853	230923853	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:230923853G>A	ENST00000295190.4	-	2	674	c.216C>T	c.(214-216)acC>acT	p.T72T		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	72						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGACCCAGGCGGTCAGGCCGC	0.532000													6	93					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49259627	49259627	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:49259627G>A	ENST00000593756.1	+	2	706	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	FGF21_ENST00000222157.3_Missense_Mutation_p.R45Q			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	45					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGCCAAGTCCGGCAGCGGTAC	0.637000													10	33					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66217165	66217165	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:66217165G>T	ENST00000273854.3	-	14	3050	c.2450C>A	c.(2449-2451)tCt>tAt	p.S817Y	EPHA5_ENST00000354839.4_Missense_Mutation_p.S795Y|EPHA5_ENST00000511294.1_Missense_Mutation_p.S818Y|EPHA5_ENST00000432638.2_Missense_Mutation_p.S654Y	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	817	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCAAAGTCAGACACTTTGCA	0.458000										TSP Lung(17;0.13)			16	84					0.000566183	0.000660974	1	1	0
BPTF	2186	broad.mit.edu	37	17	65924504	65924504	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:65924504G>A	ENST00000321892.4	+	18	6224	c.6163G>A	c.(6163-6165)Gca>Aca	p.A2055T	BPTF_ENST00000306378.6_Missense_Mutation_p.A1929T|BPTF_ENST00000335221.5_Missense_Mutation_p.A2055T|BPTF_ENST00000424123.3_Missense_Mutation_p.A1916T			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2055					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACAGTGATTGCAACTTCCAC	0.433000													9	75					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519949	113519949	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:113519949A>G	ENST00000284601.3	-	4	1266	c.1198T>C	c.(1198-1200)Tgt>Cgt	p.C400R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	400					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGATGTGTACAGTCATCTCCT	0.398000													49	211					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204400812	204400812	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:204400812G>A	ENST00000367187.3	-	29	4821	c.4265C>T	c.(4264-4266)tCt>tTt	p.S1422F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1394F|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1422	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAGTGGGAAGAAGGGAAGAG	0.567000											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	114					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472317	136472317	+	Silent	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:136472317G>A	ENST00000308191.6	+	6	705	c.402G>A	c.(400-402)ctG>ctA	p.L134L	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	134					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TGGTAACACTGTTGTGCCACC	0.373000													8	86					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86086236	86086236	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:86086236G>T	ENST00000445632.2	+	1	303	c.31G>T	c.(31-33)Gac>Tac	p.D11Y	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.D11Y	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	11										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TGCCCTGCAGGACCTGGGCAG	0.562000													10	172					7.03913e-09	1.03777e-08	1	1	0
RYR2	6262	broad.mit.edu	37	1	237919648	237919648	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:237919648G>T	ENST00000366574.2	+	81	11523	c.11206G>T	c.(11206-11208)Gcg>Tcg	p.A3736S	RYR2_ENST00000360064.6_Missense_Mutation_p.A3742S|RYR2_ENST00000542537.1_Missense_Mutation_p.A3720S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3736					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGGCGCGGCTGAGAT	0.473000													10	37					3.07112e-06	3.97167e-06	1	1	0
KHDC1	80759	broad.mit.edu	37	6	73951300	73951300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:73951300G>T	ENST00000370384.3	-	5	1166	c.666C>A	c.(664-666)taC>taA	p.Y222*	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Nonsense_Mutation_p.Y149*	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	222						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CAATCACTTGGTAAGGGGAAG	0.498000													14	88					1.49906e-05	1.90053e-05	1	1	0
PLG	5340	broad.mit.edu	37	6	161152903	161152903	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:161152903C>A	ENST00000308192.9	+	12	1628	c.1565C>A	c.(1564-1566)cCa>cAa	p.P522Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	522	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGACAAATCCACGGGCGGGT	0.502000													5	85					1.024e-07	1.44367e-07	1	1	0
BLOC1S3	388552	broad.mit.edu	37	19	45682624	45682624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:45682624G>T	ENST00000433642.2	+	2	166	c.70G>T	c.(70-72)Gag>Tag	p.E24*	BLOC1S3_ENST00000587722.1_Nonsense_Mutation_p.E24*	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	24					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGAGGCGACCGAGACGGATTC	0.736000									Hermansky-Pudlak syndrome				7	11					8.12818e-05	9.7994e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211454926	211454926	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:211454926C>T	ENST00000233072.5	+	8	1004	c.808C>T	c.(808-810)Ctt>Ttt	p.L270F	CPS1_ENST00000430249.2_Missense_Mutation_p.L276F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	270	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAACCCAGCTCTTGCAGAACC	0.502000													39	261					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167322236	167322236	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr3:167322236C>A	ENST00000453925.2	-	2	149	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	WDR49_ENST00000479765.1_Missense_Mutation_p.D327Y|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	161										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGATAGCGTCTAAAGATGCA	0.313000													13	25					5.50884e-06	7.08868e-06	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130222706	130222706	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:130222706C>G	ENST00000276211.5	+	12	1936	c.1591C>G	c.(1591-1593)Cgt>Ggt	p.R531G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R519G|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R395G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	531					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCATTGCTCCGTGTGCCCCG	0.582000													5	28					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	12					1	1	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11543666	11543666	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:11543666G>T	ENST00000262442.3	+	10	1934	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q622H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	622	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCGCATCCAGGGTCCTTTCA	0.582000													14	125					6.31663e-08	8.92981e-08	1	1	0
UGT2A1	10941	broad.mit.edu	37	4	70460961	70460961	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr4:70460961A>T	ENST00000503640.1	-	4	1058	c.1003T>A	c.(1003-1005)Tgg>Agg	p.W335R	UGT2A1_ENST00000514019.1_Missense_Mutation_p.W501R|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W344R|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W335R|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W291R|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	335					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGTATCTCCATAAAACCTGT	0.368000													14	52					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24998157	24998157	+	Silent	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:24998157G>T	ENST00000533227.1	+	8	572	c.285G>T	c.(283-285)ctG>ctT	p.L95L	LUZP2_ENST00000336930.6_Silent_p.L181L	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	181						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTACTGATCTGGAACAAAAAT	0.358000													5	49					0.0215528	0.0227894	1	1	0
ZNF331	55422	broad.mit.edu	37	19	54080096	54080096	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:54080096C>T	ENST00000253144.9	+	7	1615	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ZNF331_ENST00000449416.1_Silent_p.R94R|ZNF331_ENST00000511593.2_Silent_p.R94R|ZNF331_ENST00000411977.2_Silent_p.R94R|ZNF331_ENST00000511154.1_Silent_p.R94R|ZNF331_ENST00000512387.1_Silent_p.R94R|ZNF331_ENST00000513999.1_Silent_p.R94R|ZNF331_ENST00000513265.1_Silent_p.R94R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GACCACAGCGCTCCAGAGGGA	0.433000			T	?	follicular thyroid adenoma								26	66					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546459	11546459	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:11546459G>T	ENST00000389362.4	-	3	588	c.553C>A	c.(553-555)Cca>Aca	p.P185T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.612000													21	404					1.85244e-09	2.78676e-09	1	1	0
TGM6	343641	broad.mit.edu	37	20	2411632	2411632	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr20:2411632G>T	ENST00000202625.2	+	12	1987	c.1926G>T	c.(1924-1926)atG>atT	p.M642I	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	642					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGCGCTGATGGTGGAGGGCA	0.597000													14	105					4.36969e-10	6.69068e-10	1	1	0
SLC6A19	340024	broad.mit.edu	37	5	1219741	1219741	+	Silent	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:1219741C>T	ENST00000304460.10	+	10	1556	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	500					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCGCCTTCTGCGAGATGTTCT	0.582000													5	95					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3583022	3583022	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:3583022G>A	ENST00000550383.1	-	11	1309	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	P2RX5_ENST00000547178.1_Missense_Mutation_p.S373F|P2RX5_ENST00000435558.1_Missense_Mutation_p.S374F|P2RX5_ENST00000225328.5_Missense_Mutation_p.S374F|P2RX5_ENST00000551178.1_Missense_Mutation_p.S349F|P2RX5_ENST00000552050.1_Missense_Mutation_p.S314F|P2RX5_ENST00000552276.1_Missense_Mutation_p.S373F|P2RX5_ENST00000345901.3_Missense_Mutation_p.S350F																							GAGCTGCTCAGATAGCCCCAG	0.652000													4	29					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132244	154132244	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:154132244C>T	ENST00000360256.4	-	18	6135	c.5935G>A	c.(5935-5937)Gga>Aga	p.G1979R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1979	F5/8 type A 3.|Plastocyanin-like 6.		G -> V (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACACATGTCCACTGAAATGA	0.413000													23	140					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674107	151674107	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr6:151674107T>A	ENST00000402676.2	+	4	4821	c.4581T>A	c.(4579-4581)agT>agA	p.S1527R	AKAP12_ENST00000354675.6_Missense_Mutation_p.S1429R|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1527R|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1422R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1527					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCAAAGTGAGTGTAGCAATTG	0.453000													14	121					0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157208747	157208747	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:157208747G>T	ENST00000262177.4	+	10	1141	c.936G>T	c.(934-936)caG>caT	p.Q312H	DNAJB6_ENST00000452797.2_Missense_Mutation_p.Q263H|DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000443280.1_Missense_Mutation_p.Q197H	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	312					intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		agcagaagcagagagaggagt	0.547000													25	59					1.55469e-16	2.73796e-16	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188167	57188167	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:57188167G>A	ENST00000331162.4	-	5	1225	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H319N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.438000													7	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084564	9084564	+	Silent	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:9084564T>A	ENST00000397910.4	-	1	7454	c.7251A>T	c.(7249-7251)acA>acT	p.T2417T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2417	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTTGTAGATGTGGGAACCT	0.488000													7	22					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877882	28877882	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:28877882G>T	ENST00000337120.5	+	1	3758	c.467G>T	c.(466-468)cGt>cTt	p.R156L	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R156L|SH2B1_ENST00000359285.5_Missense_Mutation_p.R156L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R156L|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	156	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTTTCCCTGCGTTCAGTGGGT	0.637000													6	83					1	1	1	1	0
WDR44	54521	broad.mit.edu	37	X	117540951	117540951	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:117540951C>G	ENST00000254029.3	+	10	1890	c.1495C>G	c.(1495-1497)Cag>Gag	p.Q499E	WDR44_ENST00000371825.3_Missense_Mutation_p.Q499E|WDR44_ENST00000371822.5_Missense_Mutation_p.Q474E	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	499						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TGATTTTGATCAGATCAAAGT	0.353000													17	134					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469740	10469740	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr8:10469740C>A	ENST00000382483.3	-	4	2091	c.1868G>T	c.(1867-1869)gGa>gTa	p.G623V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	623					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGAAGAGGCTCCTTCCGAGTC	0.647000													14	55					6.31663e-08	8.92981e-08	1	1	0
MED12	9968	broad.mit.edu	37	X	70341627	70341627	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:70341627G>T	ENST00000333646.6	+	7	1261	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	MED12_ENST00000374080.3_Missense_Mutation_p.Q354H|MED12_ENST00000374102.1_Missense_Mutation_p.Q354H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	354					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTGCCCTCAGCACCGGCCCC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	60					0.000157383	0.000186689	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237319	56237319	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:56237319T>A	ENST00000312240.2	-	1	695	c.655A>T	c.(655-657)Atc>Ttc	p.I219F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GCAATGAGGATGAATAAGTAA	0.433000													14	94					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858043	149858043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr1:149858043delG	ENST00000369155.2	-	1	189	c.148delC	c.(148-150)acfs	p.H50fs		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	50					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTGTCGGGGTGGACCTGCTTC	0.592													36	303	---	---	---	---					
SPHKAP	80309	broad.mit.edu	37	2	228855758	228855758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr2:228855758delG	ENST00000392056.3	-	11	4963	c.4917delC	c.(4915-4917)ccfs	p.P1639fs	SPHKAP_ENST00000344657.5_Frame_Shift_Del_p.P1610fs	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1639						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTAGATGGTGGGAATCCCCA	0.473													9	88	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127681244	127681244	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr5:127681244delC	ENST00000508053.1	-	30	3996	c.3022delG	c.(3022-3024)atfs	p.D1008fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.D1008fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.D975fs			P35556	FBN2_HUMAN	fibrillin 2	1008	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATCTTCATCCCACTTCAAG	0.527													15	99	---	---	---	---					
ITGB8	3696	broad.mit.edu	37	7	20438512	20438512	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr7:20438512delG	ENST00000222573.3	+	9	1860	c.1176delG	c.(1174-1176)gtfs	p.V392fs	ITGB8_ENST00000537992.1_Frame_Shift_Del_p.V257fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	392					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAGTTCAGGTGGAAAACCAGG	0.423													9	67	---	---	---	---					
STOX1	219736	broad.mit.edu	37	10	70644800	70644800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:70644800delG	ENST00000298596.6	+	3	1331	c.1248delG	c.(1246-1248)cafs	p.Q416fs	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Frame_Shift_Del_p.Q416fs|STOX1_ENST00000421961.2_Frame_Shift_Del_p.Q306fs	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	416						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAAAAGGCAGGGTCTGTCTG	0.468													56	177	---	---	---	---					
ATRNL1	26033	broad.mit.edu	37	10	116919851	116919851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr10:116919851delC	ENST00000355044.3	+	6	1006	c.880delC	c.(880-882)cafs	p.P294fs	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.P294fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	294						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGGATTCTGCCAAACGTTAA	0.378													20	141	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296062	19296063	+	RNA	INS	-	-	A	rs34104745		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr11:19296062_19296063insA	ENST00000527978.1	+	0	339																											gactctgtttcaaaaaaaaaaa	0.480													3	4	---	---	---	---					
OR6C76	390326	broad.mit.edu	37	12	55820201	55820201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:55820201delC	ENST00000328314.3	+	1	164	c.164delC	c.(163-165)acfs	p.T55fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACCTGAAGACCCCCATGTAT	0.408													7	184	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94976162	94976163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr12:94976162_94976163insT	ENST00000261226.4	-	2	361_362	c.230_231insA	c.(229-231)agtfs	p.S77fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.S46fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	77						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCTCTGTTACCTTTAGAATTTT	0.490													23	162	---	---	---	---					
ITGBL1	9358	broad.mit.edu	37	13	102366841	102366841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr13:102366841delG	ENST00000376180.3	+	10	1552	c.1333delG	c.(1333-1335)ggfs	p.G445fs	ITGBL1_ENST00000376162.3_Frame_Shift_Del_p.G352fs|ITGBL1_ENST00000545560.2_Frame_Shift_Del_p.G304fs	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	445	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTATATTTCTGGGGAGTTCTG	0.403													24	152	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	71220769	71220770	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr16:71220769_71220770insA	ENST00000393567.2	-	2	179_180	c.29_30insT	c.(28-30)aggfs	p.R10fs	HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.R27fs|HYDIN_ENST00000448691.1_Frame_Shift_Ins_p.R10fs|HYDIN_ENST00000448089.2_Frame_Shift_Ins_p.R10fs|HYDIN_ENST00000321489.5_Frame_Shift_Ins_p.R10fs|HYDIN_ENST00000393550.2_Frame_Shift_Ins_p.R10fs|HYDIN_ENST00000538248.1_Frame_Shift_Ins_p.R37fs|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.R27fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	10										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAACAGCCCCCATGGACTCCTC	0.376													11	99	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62757843	62757843	+	RNA	DEL	A	A	-	rs76968253		TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr17:62757843delA	ENST00000400873.3	-	0	1605					NR_026899.1																						actccgtctcaaaaaaaaaaa	0.413													2	4	---	---	---	---					
IRGC	56269	broad.mit.edu	37	19	44223558	44223559	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr19:44223558_44223559insA	ENST00000244314.5	+	2	1047_1048	c.848_849insA	c.(847-849)cggfs	p.R283fs		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	283						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGCCGGTCCCAGGGCTGGCGG	0.634													28	73	---	---	---	---					
KRTAP10-10	353333	broad.mit.edu	37	21	46057730	46057730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chr21:46057730delC	ENST00000380095.1	+	1	458	c.396delC	c.(394-396)tgfs	p.C132fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	132	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGTCTAGCTGCCAGCCAACTT	0.612													37	345	---	---	---	---					
TEX13B	56156	broad.mit.edu	37	X	107224317	107224317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:107224317delC	ENST00000302917.1	-	3	1024	c.932delG	c.(931-933)gcfs	p.G311fs		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	311										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCATCAGAGGCCCCCCAGTTG	0.562													13	131	---	---	---	---					
KLHL13	90293	broad.mit.edu	37	X	117035844	117035844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T4-01A-11D-A25L-08	TCGA-MP-A4T4-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0D3441EB-429D-4232-8A50-575D61E654C7	A2015F6F-1E33-42C2-9022-A642942AEC68	g.chrX:117035844delG	ENST00000371876.1	-	5	3700	c.1279delC	c.(1279-1281)acfs	p.H427fs	KLHL13_ENST00000540167.1_Frame_Shift_Del_p.H462fs|KLHL13_ENST00000539496.1_Frame_Shift_Del_p.H481fs|KLHL13_ENST00000262820.3_Frame_Shift_Del_p.H478fs|KLHL13_ENST00000545703.1_Frame_Shift_Del_p.H436fs|KLHL13_ENST00000541812.1_Frame_Shift_Del_p.H462fs|KLHL13_ENST00000371882.1_Frame_Shift_Del_p.H427fs|KLHL13_ENST00000371878.1_Frame_Shift_Del_p.H427fs|KLHL13_ENST00000469946.1_Frame_Shift_Del_p.H427fs			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	478					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGCCATAGTGGGGCTCACTC	0.323													29	195	---	---	---	---