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
IL6R	3570	broad.mit.edu	37	1	154407131	154407131	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:154407131G>A	ENST00000368485.3	+	4	1032	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	IL6R_ENST00000344086.4_Missense_Mutation_p.G199R	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	199					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.G199W(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTAGTGTCGGGAGCAAGTT	0.493000													38	91					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	by1000genomes	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1																						ACCTCAGGAGACTGCTGGTGC	0.627000													4	47					0	0	1	0	0
NXT2	55916	broad.mit.edu	37	X	108785890	108785890	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:108785890C>T	ENST00000218004.1	+	5	669	c.567C>T	c.(565-567)ttC>ttT	p.F189F	NXT2_ENST00000372103.1_Silent_p.F106F|NXT2_ENST00000372106.1_Silent_p.F134F|NXT2_ENST00000372107.1_Silent_p.F106F	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	134					mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GTGATTGCTTCCGTTTTCAAG	0.378000													24	31					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10581790	10581790	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:10581790G>A	ENST00000234111.4	-	11	1596	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G	ODC1_ENST00000405333.1_Silent_p.G362G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	362					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TCCGATCGAGGCCATCACATG	0.453000													8	58					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408307	28408307	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:28408307C>T	ENST00000261609.7	-	69	10787	c.10679G>A	c.(10678-10680)cGg>cAg	p.R3560Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3560					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCGGCCCGGCTGCACAC	0.647000													47	98					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38418792	38418792	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:38418792G>C	ENST00000323571.4	+	4	452	c.212G>C	c.(211-213)aGt>aCt	p.S71T	WIPF2_ENST00000583130.1_Missense_Mutation_p.S71T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S71T|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	71						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AAAGGAAGCAGTGGTGGCTAT	0.537000										HNSCC(43;0.11)			20	67					0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26691519	26691519	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:26691519G>T	ENST00000536498.1	-	10	1816	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	SEBOX_ENST00000438614.1_Missense_Mutation_p.S140Y|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000431468.1_Missense_Mutation_p.S141Y			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	141					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGTGCCGCTGGAGGGTGGAGG	0.622000													13	26					0.00010058	0.000104172	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43701117	43701117	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:43701117C>T	ENST00000263801.3	-	26	5815	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1858K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1810K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1860K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1855					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTGCTCCTCAAGGCTGTAC	0.483000								Other conserved DNA damage response genes					13	60					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189421	167189421	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:167189421G>T	ENST00000476257.1	-	3	500	c.202C>A	c.(202-204)Cag>Aag	p.Q68K	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.Q68K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.Q68K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.Q68K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	68					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATCTGCTGCTGTGCTTTTCCT	0.388000													16	41					1.5739e-10	1.69048e-10	1	1	0
ABCB8	11194	broad.mit.edu	37	7	150731831	150731831	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:150731831A>T	ENST00000358849.4	+	5	773	c.680A>T	c.(679-681)gAc>gTc	p.D227V	ABCB8_ENST00000297504.6_Missense_Mutation_p.D244V|ABCB8_ENST00000477092.1_Missense_Mutation_p.D227V|ABCB8_ENST00000542328.1_Missense_Mutation_p.D139V|ABCB8_ENST00000477719.1_Missense_Mutation_p.D227V|ABCB8_ENST00000498578.1_Missense_Mutation_p.D227V|ABCB8_ENST00000356058.4_Missense_Mutation_p.D264V	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	244	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTTCTTTGACGCCAATAAG	0.527000													35	49					0	0	1	0	0
C9orf66	157983	broad.mit.edu	37	9	215080	215080	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:215080G>A	ENST00000382387.2	-	1	813	c.317C>T	c.(316-318)aCc>aTc	p.T106I	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	106										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCCAGCGCTGGTGTGAAGCGG	0.741000													5	7					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012466	55012466	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:55012466G>C	ENST00000371336.3	+	2	484	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	CASS4_ENST00000360314.3_Missense_Mutation_p.E95Q|CASS4_ENST00000434344.1_Missense_Mutation_p.E95Q	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	95					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGCCAGCTCAGAGGAGACCTA	0.662000													28	63					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877960	2877960	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:2877960G>C	ENST00000586426.1	+	4	1088	c.1001G>C	c.(1000-1002)aGa>aCa	p.R334T	ZNF556_ENST00000307635.2_Missense_Mutation_p.R335T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACACGCGAGAACGCATGCT	0.502000													17	46					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	67					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35075012	35075012	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:35075012G>C	ENST00000378643.3	-	12	2039	c.1548C>G	c.(1546-1548)gcC>gcG	p.A516A	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	516					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTAATTAGGGCGGCTGCCC	0.547000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					121	47					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74092152	74092152	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:74092152C>T	ENST00000443185.2	-	4	2235	c.1918G>A	c.(1918-1920)Ggc>Agc	p.G640S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGGACTCGCCGGTGTCTCTT	0.537000													91	51					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881880	26881880	+	Missense_Mutation	SNP	C	C	T	rs114925145	by1000genomes	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:26881880C>T	ENST00000308360.7	-	11	1756	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	PIGS_ENST00000543734.1_Missense_Mutation_p.V400M|PIGS_ENST00000395346.2_Missense_Mutation_p.V453M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	461					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCAGATGCCACGTCGTCCTTA	0.592000													22	82					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56419833	56419833	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:56419833T>C	ENST00000290649.5	-	10	1588	c.1378A>G	c.(1378-1380)Atg>Gtg	p.M460V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	460	CUE.				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GACCTTACCATTGCATTGAGC	0.502000													7	13					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256594	240256594	+	Silent	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:240256594T>C	ENST00000319653.9	+	1	1415	c.1185T>C	c.(1183-1185)gcT>gcC	p.A395A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGCGGCCGCTTCCCTGCCCG	0.726000													22	74					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099441	133099441	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:133099441G>T	ENST00000515826.1	+	3	1009	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.G296W|TMEM108_ENST00000321871.6_Missense_Mutation_p.G296W			Q6UXF1	TM108_HUMAN	transmembrane protein 108	296						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCCAAGGAGGGACACCAGA	0.662000													17	63					1.45105e-14	1.63103e-14	1	1	0
KCTD20	222658	broad.mit.edu	37	6	36454708	36454708	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:36454708C>T	ENST00000373731.2	+	8	1407	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	KCTD20_ENST00000449081.2_Missense_Mutation_p.S173F|KCTD20_ENST00000544295.1_Missense_Mutation_p.S93F|KCTD20_ENST00000536244.1_Missense_Mutation_p.S194F|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	339						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GGCGGCCGGTCTGAAGTCATC	0.453000													31	85					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776690	38776690	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:38776690G>C	ENST00000308973.4	-	4	1127	c.522C>G	c.(520-522)ttC>ttG	p.F174L	TLR10_ENST00000508334.1_Missense_Mutation_p.F174L|TLR10_ENST00000361424.2_Missense_Mutation_p.F174L|TLR10_ENST00000506111.1_Missense_Mutation_p.F174L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	174					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAGAGTTCTGAATCCTAAGA	0.383000													14	30					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516652	102516652	+	RNA	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:102516652C>T	ENST00000557932.1	+	0	1600																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCGGGGACTTCTGTCTGCCTG	0.592000													4	26					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533765	141533765	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:141533765C>A	ENST00000389484.3	-	33	6373	c.5402G>T	c.(5401-5403)gGa>gTa	p.G1801V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1801					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)		GCTGCAGGTTCCTAGCTGGGC	0.368000										TSP Lung(27;0.18)			8	32					3.09899e-07	3.27995e-07	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14031662	14031662	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:14031662A>G	ENST00000318003.7	+	14	1809	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.H523R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	523					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCAAGATGCACCTGCGCCAA	0.627000													42	108					0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460294	32460294	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:32460294G>A	ENST00000306901.3	+	10	1241	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	CHRNA7_ENST00000455693.2_Missense_Mutation_p.G201R|CHRNA7_ENST00000454250.3_Missense_Mutation_p.G411R	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	382					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CGCCAGCAACGGGAACCTGCT	0.721000													10	56					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76703264	76703264	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:76703264C>T	ENST00000264917.5	+	13	1392	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	PDE8B_ENST00000340978.3_Silent_p.I402I|PDE8B_ENST00000333194.4_Silent_p.I449I|PDE8B_ENST00000346042.3_Silent_p.I352I|PDE8B_ENST00000342343.4_Silent_p.I429I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	449					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCATGACCATCGAGGCTCCCA	0.582000													56	64					0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439891	52439891	+	Missense_Mutation	SNP	G	G	A	rs61730661	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:52439891G>A	ENST00000242819.4	+	2	673	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	126			R -> C (in dbSNP:rs17076052).			extracellular region|plasma membrane		p.R126H(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAAAGTACCGCACTTTCTGG	0.468000													74	58					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3140861	3140861	+	Splice_Site	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:3140861C>G	ENST00000263650.7	-	7	766	c.606_splice	c.e7-1	p.G203_splice	OSBPL5_ENST00000525498.1_Splice_Site_p.G114_splice|OSBPL5_ENST00000389989.3_Splice_Site_p.G135_splice|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Splice_Site_p.G135_splice	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	203	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTTTGGGGCCCTGGAGAGAG	0.632000													24	30					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196907	31196907	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:31196907C>T	ENST00000357033.4	-	70	10308	c.10102G>A	c.(10102-10104)Gat>Aat	p.D3368N	DMD_ENST00000378677.2_Missense_Mutation_p.D3364N|DMD_ENST00000378702.4_Missense_Mutation_p.D300N|DMD_ENST00000378707.3_Missense_Mutation_p.D908N|DMD_ENST00000378723.3_Missense_Mutation_p.D300N|DMD_ENST00000541735.1_Missense_Mutation_p.D908N|DMD_ENST00000378680.2_Missense_Mutation_p.D300N|DMD_ENST00000359836.1_Missense_Mutation_p.D908N|DMD_ENST00000361471.4_Missense_Mutation_p.D300N|DMD_ENST00000474231.1_Missense_Mutation_p.D908N|DMD_ENST00000343523.2_Missense_Mutation_p.D908N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3368	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCGAACATCTTCTCCTGAT	0.438000													17	18					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709194	35709194	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:35709194C>A	ENST00000440995.2	+	19	2795	c.2795C>A	c.(2794-2796)aCt>aAt	p.T932N	SPEF2_ENST00000509059.1_Missense_Mutation_p.T932N|SPEF2_ENST00000356031.3_Missense_Mutation_p.T937N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	937					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTCAAAAACTCCTACTGCA	0.388000													6	71					0.0215528	0.0215528	1	1	0
JPH3	57338	broad.mit.edu	37	16	87723299	87723299	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:87723299G>C	ENST00000284262.2	+	4	1575	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	445					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACGACATCGAGGTGCTGTC	0.652000													8	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262258	45262258	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:45262258G>T	ENST00000303230.4	-	8	2495	c.2438C>A	c.(2437-2439)gCc>gAc	p.A813D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	813						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						AGGGATGGAGGCCAGGGACTC	0.672000													18	85					1.02788e-11	1.12062e-11	1	1	0
TFAP2A	7020	broad.mit.edu	37	6	10400743	10400743	+	Silent	SNP	G	G	A	rs1803117		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:10400743G>A	ENST00000379613.3	-	6	1225	c.969C>T	c.(967-969)ctC>ctT	p.L323L	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Silent_p.L321L|TFAP2A_ENST00000319516.4_Silent_p.L317L|TFAP2A_ENST00000482890.1_Silent_p.L321L|TFAP2A_ENST00000379608.3_Silent_p.L315L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	321	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGTCGGTTGAGAAATTCAG	0.498000													23	68					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104182618	104182618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:104182618G>A	ENST00000392876.3	-	10	1139	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	367							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGAGATACCTGCTTGTATATC	0.418000													34	99					0	0	1	0	0
LITAF	9516	broad.mit.edu	37	16	11647526	11647526	+	Translation_Start_Site	SNP	G	G	A	rs149184234		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:11647526G>A	ENST00000572255.1	-	0	234				LITAF_ENST00000571976.1_Silent_p.Y80Y|LITAF_ENST00000571688.1_Silent_p.Y80Y|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000570904.1_Silent_p.Y80Y|LITAF_ENST00000576036.1_Silent_p.Y80Y|LITAF_ENST00000574763.1_Silent_p.Y80Y|LITAF_ENST00000413364.2_Silent_p.Y80Y|LITAF_ENST00000381810.3_Silent_p.Y80Y|LITAF_ENST00000339430.5_Silent_p.Y80Y			Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor						apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	p.Y80Y(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GGTGCTGCACGTAGACCGTCT	0.512000													12	43					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313479	197313479	+	Translation_Start_Site	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:197313479G>A	ENST00000543483.1	+	0	213				CRB1_ENST00000538660.1_Missense_Mutation_p.D241N|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.D241N|CRB1_ENST00000535699.1_Missense_Mutation_p.D172N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AACTTGTCAGGATGCTCTGGG	0.463000													47	123					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43129059	43129059	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:43129059G>C	ENST00000342374.4	-	10	1457	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	SERINC3_ENST00000255175.1_Missense_Mutation_p.Q434E|SERINC3_ENST00000541235.1_Missense_Mutation_p.Q379E	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	434						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTCATGCTCTGAAACTTTGCA	0.547000													6	6					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492114	63492114	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:63492114G>A	ENST00000523211.1	+	2	203	c.71G>A	c.(70-72)aGg>aAg	p.R24K	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.R24K	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	24						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GCATTAGAGAGGCAGATCTTT	0.383000													19	89					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169676535	169676535	+	Silent	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:169676535A>G	ENST00000236147.4	-	4	727	c.567T>C	c.(565-567)aaT>aaC	p.N189N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	176	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AGGTGTAATTATTGATGATTT	0.403000													12	18					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477987	121477987	+	Silent	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:121477987A>G	ENST00000260197.7	+	37	5283	c.5154A>G	c.(5152-5154)ctA>ctG	p.L1718L	SORL1_ENST00000525532.1_Silent_p.L662L|SORL1_ENST00000532694.1_Silent_p.L564L|SORL1_ENST00000527934.1_Silent_p.L333L|SORL1_ENST00000534286.1_Silent_p.L628L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1718	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAACACTCTATACACCGTCA	0.463000													7	15					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32409029	32409029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:32409029C>A	ENST00000315456.6	+	13	1443	c.1119C>A	c.(1117-1119)tgC>tgA	p.C373*	DTNA_ENST00000283365.9_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000554864.3_Nonsense_Mutation_p.C370*|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269191.6_Intron	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	0					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.C370*(2)|p.C373*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGTGGATGCGTCTAGATGG	0.428000													9	45					1.58986e-06	1.65849e-06	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46388505	46388505	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:46388505C>T	ENST00000454345.1	+	2	824	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	233					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCAAGGCGGCCGGACCCCAGG	0.716000													2	0					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564629	102564629	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:102564629C>T	ENST00000536889.1	-	3	729	c.372G>A	c.(370-372)gtG>gtA	p.V124V	BEX2_ENST00000372674.1_Silent_p.V92V|BEX2_ENST00000372677.3_Silent_p.V92V	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	92					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						TCAGCTGTCTCACCTCCTCCC	0.517000													62	51					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151655871	151655871	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:151655871G>C	ENST00000368843.3	+	8	1309	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	SNX27_ENST00000368838.1_Missense_Mutation_p.E304Q|SNX27_ENST00000458013.2_Missense_Mutation_p.E397Q	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	397					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAAAGCAGAAGAAAAGTCCTA	0.358000													5	15					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158164	58158164	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:58158164A>T	ENST00000228606.4	-	6	1342	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	378					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCCTCACCTTAGCACTTCCTT	0.577000													64	178					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972528	6972528	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:6972528C>T	ENST00000229268.8	+	15	1993	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	647					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCCTCACTTCTCCTCTCCGA	0.567000													44	96					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181292	140181292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:140181292C>A	ENST00000522353.2	+	1	510	c.510C>A	c.(508-510)taC>taA	p.Y170*	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Y170*|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393000													34	33					4.74835e-14	5.29624e-14	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112930707	112930707	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:112930707G>A	ENST00000374530.3	+	11	3422	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K	AKAP2_ENST00000434623.2_Missense_Mutation_p.R939K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R1081K|AKAP2_ENST00000259318.7_Missense_Mutation_p.R837K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R1068K|AKAP2_ENST00000510514.5_Missense_Mutation_p.R1068K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R926K|AKAP2_ENST00000482335.1_3'UTR	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		837							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTTAATCGAAGAAAGAGCGCA	0.463000													11	50					0	0	1	0	0
ARF1	375	broad.mit.edu	37	1	228284873	228284873	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:228284873A>T	ENST00000541182.1	+	2	320	c.58A>T	c.(58-60)Atc>Ttc	p.I20F	ARF1_ENST00000540651.1_Missense_Mutation_p.I20F|ARF1_ENST00000272102.5_Missense_Mutation_p.I20F|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	20					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				AGAAATGCGCATCCTCATGGT	0.552000													37	147					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763781	14763781	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:14763781C>T	ENST00000358984.4	+	7	1097	c.917C>T	c.(916-918)gCt>gTt	p.A306V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A306V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	306										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCTGACGAGGCTGCACGCTTG	0.488000													12	32					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88396193	88396193	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:88396193G>A	ENST00000419482.2	+	6	863	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SMYD1_ENST00000444564.2_Missense_Mutation_p.E247K|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAACGTTAGTGAAGAACGCAA	0.483000													16	78					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616509	92616509	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:92616509G>T	ENST00000298047.6	+	23	12904	c.12887G>T	c.(12886-12888)cGc>cTc	p.R4296L	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.R4146L|FAT3_ENST00000533797.1_Missense_Mutation_p.R631L|FAT3_ENST00000409404.2_Missense_Mutation_p.R4296L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4296					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACCCTGCCGCTCCGACTGC	0.647000										TCGA Ovarian(4;0.039)			14	33					7.87624e-14	8.71798e-14	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122303468	122303468	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:122303468C>G	ENST00000334010.7	-	3	1030	c.609G>C	c.(607-609)tgG>tgC	p.W203C	CADPS2_ENST00000412584.2_Missense_Mutation_p.W203C|CADPS2_ENST00000313070.7_Missense_Mutation_p.W203C|CADPS2_ENST00000449022.2_Missense_Mutation_p.W203C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	203					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATTTGGCTATCCATGAGCTCA	0.413000													24	29					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55349376	55349376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:55349376G>C	ENST00000371269.3	-	2	400	c.302C>G	c.(301-303)tCa>tGa	p.S101*	DHCR24_ENST00000535035.1_Nonsense_Mutation_p.S60*	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	101	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GACACGTAGTGAGACAGTGAG	0.537000													55	202					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113420545	113420545	+	Splice_Site	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:113420545A>T	ENST00000297405.5	-	34	5850		c.e34+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						AGGGTCACTTACCTTGGTAAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	56					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173370	57173370	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:57173370C>T	ENST00000371244.4	+	9	1709	c.1643C>T	c.(1642-1644)aCt>aTt	p.T548I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	548					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGTCTGATTACTACTTTAGCC	0.378000													7	126					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33290907	33290907	+	Silent	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:33290907C>G	ENST00000280979.4	+	13	4058	c.3888C>G	c.(3886-3888)ctC>ctG	p.L1296L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1296					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTTGAACTCTATGAGGACA	0.438000													6	27					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592000													33	44					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70832382	70832382	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:70832382A>G	ENST00000373695.1	+	11	2465	c.1928A>G	c.(1927-1929)cAt>cGt	p.H643R	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.H643R			Q96QF7	ACRC_HUMAN	acidic repeat containing	643						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TACAAGGTCCATTATGAATGT	0.458000													7	5					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191929	67191929	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:67191929G>A	ENST00000445895.2	+	9	2824	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	CARNS1_ENST00000307823.3_Missense_Mutation_p.E781K|CARNS1_ENST00000531040.1_Missense_Mutation_p.E878K|CARNS1_ENST00000423745.2_Missense_Mutation_p.E781K			A5YM72	CRNS1_HUMAN	carnosine synthase 1	781					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGTGCCTGGCGAGTATGAGGA	0.697000													6	11					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1828155	1828155	+	Missense_Mutation	SNP	G	G	C	rs62040027		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:1828155G>C	ENST00000566339.1	-	4	802	c.472C>G	c.(472-474)Ccc>Gcc	p.P158A	SPSB3_ENST00000301717.4_Missense_Mutation_p.P158A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	158	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCGTAGACGGGAGAGGTCATC	0.662000													7	68					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96653736	96653736	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:96653736C>G	ENST00000222598.4	-	1	673	c.200G>C	c.(199-201)gGc>gCc	p.G67A	DLX5_ENST00000486603.2_Missense_Mutation_p.G67A|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	67					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCTTTGCCATAGGAAGC	0.587000													26	109					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111824255	111824255	+	RNA	SNP	C	C	T	rs6537691	by1000genomes	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:111824255C>T	ENST00000369743.4	+	0	139					NR_003928.1																						CTGATGACATCGACCCCTGCC	0.532000													4	54					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343760	248343760	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:248343760T>C	ENST00000359682.2	+	1	473	c.473T>C	c.(472-474)aTt>aCt	p.I158T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GATGGAATCATTGATGCTGTA	0.443000													107	157					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079303	120079303	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:120079303C>T	ENST00000307128.5	+	4	586	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	125							protein phosphatase 2B binding	p.P125S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACATTGCTCCAGGTAACCA	0.433000													60	44					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151266315	151266315	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:151266315G>C	ENST00000274576.4	-	3	511	c.219C>G	c.(217-219)atC>atG	p.I73M	GLRA1_ENST00000545569.1_De_novo_Start_InFrame|GLRA1_ENST00000455880.2_Missense_Mutation_p.I73M|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	73					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAAGCTGTTGATGAAAATGT	0.468000													37	27					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97365786	97365786	+	RNA	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:97365786T>C	ENST00000457909.1	+	0	4402							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGTTTTCTATAATGGGAAAA	0.532000													16	38					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31532106	31532106	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:31532106T>C	ENST00000373747.3	-	2	407	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	PUM1_ENST00000426105.2_Missense_Mutation_p.Y103C|PUM1_ENST00000424085.2_Missense_Mutation_p.Y103C|PUM1_ENST00000373741.4_Missense_Mutation_p.Y139C|PUM1_ENST00000373742.2_Missense_Mutation_p.Y139C|PUM1_ENST00000423018.2_Missense_Mutation_p.Y103C|PUM1_ENST00000440538.2_Missense_Mutation_p.Y103C|PUM1_ENST00000257075.5_Missense_Mutation_p.Y103C	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	103					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTATTATTATAGCCGCCTCC	0.468000													65	83					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	82072683	82072683	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:82072683G>A	ENST00000356860.3	-	1	431	c.93C>T	c.(91-93)gtC>gtT	p.V31V	CACNA2D1_ENST00000423588.1_Silent_p.V31V|CACNA2D1_ENST00000356253.5_Silent_p.V31V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	31						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	cgACTTACGTGACGGCCGAAG	0.697000													8	42					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Translation_Start_Site	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:129168739G>A	ENST00000440957.2	+	0	75				IFT122_ENST00000504021.1_Missense_Mutation_p.D23N|IFT122_ENST00000349441.2_Missense_Mutation_p.D23N|IFT122_ENST00000348417.2_Missense_Mutation_p.D23N|IFT122_ENST00000347300.2_Missense_Mutation_p.D23N|IFT122_ENST00000296266.3_Missense_Mutation_p.D23N|IFT122_ENST00000507564.1_Missense_Mutation_p.D23N|IFT122_ENST00000431818.2_De_novo_Start_InFrame			Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)						camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408000													12	55					0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58230691	58230691	+	Silent	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:58230691T>C	ENST00000262506.3	-	2	345	c.162A>G	c.(160-162)gtA>gtG	p.V54V		NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	54	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TGGCCTCAAATACTTCACTAT	0.418000													47	120					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103780432	103780432	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:103780432G>T	ENST00000302251.5	-	7	1536	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q	PDGFD_ENST00000393158.2_Missense_Mutation_p.P368Q	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	368					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTATCGAGGTGGTCTTGAGCT	0.463000													29	52					7.01153e-11	7.58711e-11	1	1	0
OR11G2	390439	broad.mit.edu	37	14	20666183	20666183	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:20666183G>T	ENST00000357366.3	+	1	689	c.689G>T	c.(688-690)gGc>gTc	p.G230V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGCAAAAAAGGCCCTGTGATA	0.463000													29	80					9.80776e-20	1.11978e-19	1	1	0
GBP6	163351	broad.mit.edu	37	1	89849796	89849796	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:89849796G>C	ENST00000370456.4	+	10	1706	c.1613G>C	c.(1612-1614)aGa>aCa	p.R538T	GBP6_ENST00000535065.1_Missense_Mutation_p.R408T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	538							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATGGAGAGAGAACACCTA	0.502000													7	33					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4117860	4117860	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:4117860C>T	ENST00000324333.10	-	3	1346	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	GLIS3_ENST00000381971.3_Missense_Mutation_p.G540S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	385					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGAGGGCAACCGGCCCAGAAG	0.577000													47	120					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37293006	37293006	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:37293006G>C	ENST00000231498.3	-	34	4215	c.4012C>G	c.(4012-4014)Ccc>Gcc	p.P1338A	NUP155_ENST00000513532.1_Missense_Mutation_p.P1274A|NUP155_ENST00000381843.2_Missense_Mutation_p.P1279A|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1338					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTGGCTGGGATTCTCAACA	0.303000													13	43					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17783000	17783000	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:17783000C>G	ENST00000581396.1	-	6	664	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	TOM1L2_ENST00000318094.10_Missense_Mutation_p.E195Q|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E187Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E240Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E195Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E92Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E142Q	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	240					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GTTAACATCTCAGACATGACT	0.527000													37	153					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978722	91978722	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:91978722G>A	ENST00000420987.1	-	18	2472	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SEMA4D_ENST00000455551.2_Missense_Mutation_p.R676C|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R61C|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R676C|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R676C	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGAGCAGCGATACTCAGCG	0.572000													24	47					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139876567	139876567	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:139876567G>C	ENST00000397560.2	-	1	268	c.171C>G	c.(169-171)atC>atG	p.I57M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I57M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		57					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGTCCTTGCAGATATCGCACT	0.731000													15	72					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60989073	60989073	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:60989073G>C	ENST00000252998.1	-	10	1490	c.1334C>G	c.(1333-1335)tCg>tGg	p.S445W		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GCCCCACTCCGAGAGGTCCAG	0.736000													4	13					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1823374	1823374	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:1823374G>C	ENST00000307394.7	+	1	146	c.146G>C	c.(145-147)aGa>aCa	p.R49T	EME2_ENST00000568449.1_Missense_Mutation_p.R49T			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	49					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCCGCCGCGAGAGCCCGGGAC	0.756000								Direct reversal of damage;Homologous recombination					3	12					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64663989	64663989	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:64663989G>A	ENST00000421419.2	-	39	5492	c.5378C>T	c.(5377-5379)tCa>tTa	p.S1793L	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1791L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1791							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTGTGGATGAGCCAAAGGA	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	38					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272826	28272826	+	Silent	SNP	G	G	A	rs147124402		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:28272826G>A	ENST00000305242.5	-	6	857	c.765C>T	c.(763-765)caC>caT	p.H255H	ARMC4_ENST00000239715.3_Silent_p.H112H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	255							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTCACCATCGTGAGGTTTCA	0.393000													11	35					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205043	129205043	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:129205043T>A	ENST00000308167.5	-	7	1160	c.781A>T	c.(781-783)Aac>Tac	p.N261Y	ELF4_ENST00000335997.7_Missense_Mutation_p.N261Y	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	261					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCTCATAGTTCATGTCAGGC	0.527000			T	ERG	AML								71	66					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658273	121658273	+	Silent	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:121658273A>T	ENST00000369075.3	+	2	570	c.498A>T	c.(496-498)tcA>tcT	p.S166S	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	166	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCCCTCCTTCATATTTTGGGA	0.498000													25	67					0	0	1	0	0
CEBPD	1052	broad.mit.edu	37	8	48650481	48650481	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:48650481T>C	ENST00000408965.3	-	1	1167	c.202A>G	c.(202-204)Atg>Gtg	p.M68V		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	68					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				ACGGCGGCCATGGAGTCGATG	0.711000													13	45					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878121	2878121	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:2878121G>C	ENST00000586426.1	+	4	1249	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	ZNF556_ENST00000307635.2_Missense_Mutation_p.E389Q			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACAAACATGAGAGAAAGCA	0.448000													28	61					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170913	204170913	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:204170913G>A	ENST00000308302.3	-	3	329	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	48					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGCCAATGATGAGGGACAGGC	0.587000													9	114					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270632	53270632	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:53270632C>A	ENST00000338230.3	-	3	644	c.377G>T	c.(376-378)aGa>aTa	p.R126I		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGAGAAATTCTTTGGGATGT	0.388000													21	101					1.28384e-07	1.3688e-07	1	1	0
CLTC	1213	broad.mit.edu	37	17	57725621	57725621	+	Silent	SNP	T	T	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:57725621T>A	ENST00000269122.3	+	4	814	c.540T>A	c.(538-540)gcT>gcA	p.A180A	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.A180A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	180	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGTGGGAGCTATGCAGCTAT	0.373000			T	"""ALK, TFE3"""	"""ALCL, renal """								27	64					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123633990	123633990	+	Missense_Mutation	SNP	G	G	C	rs147561384	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:123633990G>C	ENST00000485727.1	-	9	6490	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C	CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000489746.1_Missense_Mutation_p.S633C|CCDC14_ENST00000488653.2_Missense_Mutation_p.S833C|CCDC14_ENST00000433542.2_Missense_Mutation_p.S792C|CCDC14_ENST00000310351.4_Missense_Mutation_p.S673C			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	833						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)		CTTTGTTGAAGAGGAACAGAT	0.423000													16	15					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421330	53421330	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:53421330G>C	ENST00000377942.3	-	1	1445	c.1242C>G	c.(1240-1242)gtC>gtG	p.V414V	PCDH8_ENST00000338862.4_Silent_p.V414V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	414	Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGAGGTGCTGACCAGGGCCA	0.746000													6	13					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380320	76380320	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:76380320C>G	ENST00000370014.3	+	11	1895	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	SENP6_ENST00000327284.8_Missense_Mutation_p.Q419E|SENP6_ENST00000447266.2_Missense_Mutation_p.Q426E|SENP6_ENST00000370010.2_Missense_Mutation_p.Q419E|SENP6_ENST00000541192.1_Missense_Mutation_p.Q22E	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	426					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.Q426E(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGTTTTCTCAAGAACCTCC	0.358000													23	13					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34050994	34050994	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr21:34050994C>G	ENST00000382499.2	-	12	1587	c.1588G>C	c.(1588-1590)Gac>Cac	p.D530H	SYNJ1_ENST00000357345.3_Missense_Mutation_p.D491H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D530H|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D494H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D491H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	491	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGAGCTTTGTCAGCTAAATCA	0.368000													12	27					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33923445	33923445	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:33923445G>C	ENST00000389232.4	+	23	2888	c.2818G>C	c.(2818-2820)Gtt>Ctt	p.V940L	RYR3_ENST00000415757.3_Missense_Mutation_p.V940L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	940	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATTGCTCATGTTAACCCAGC	0.448000													6	4					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913804	52913804	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:52913804C>T	ENST00000252242.4	-	1	667	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccatagccgcctccagcacca	0.617000													17	120					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55848868	55848868	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:55848868G>T	ENST00000247178.5	-	6	724	c.689C>A	c.(688-690)aCc>aAc	p.T230N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	230					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGTGCTGGAGGTCATGGCACT	0.507000													24	76					4.26978e-12	4.69029e-12	1	1	0
GDPGP1	390637	broad.mit.edu	37	15	90784831	90784831	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:90784831G>C	ENST00000558017.1	+	4	1111	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.E231Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	231					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										ACTGCCCGTGGAGCAGGCGCC	0.647000													21	77					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13276216	13276216	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:13276216C>T	ENST00000378681.3	-	1	115	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	UCMA_ENST00000463405.2_Missense_Mutation_p.V15M	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	15						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AGGAGCACCACGGCGGAGAAG	0.577000													4	26					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63092010	63092010	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:63092010C>G	ENST00000263991.5	+	10	1489	c.1007C>G	c.(1006-1008)cCt>cGt	p.P336R	EHBP1_ENST00000405289.1_Missense_Mutation_p.P301R|EHBP1_ENST00000354487.3_Missense_Mutation_p.P301R|EHBP1_ENST00000405015.3_Missense_Mutation_p.P301R|EHBP1_ENST00000431489.1_Missense_Mutation_p.P301R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	336						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAGGATTCTCCTCCCCAGTCT	0.368000													28	39					0	0	1	0	0
TMEM80	283232	broad.mit.edu	37	11	700673	700673	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:700673G>C	ENST00000397512.3	+	4	353	c.243G>C	c.(241-243)ctG>ctC	p.L81L	TMEM80_ENST00000397510.2_Silent_p.L89L	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	89						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGTTTCTGATGGGGATTC	0.512000													124	199					0	0	1	0	0
BEX2	84707	broad.mit.edu	37	X	102564538	102564538	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:102564538C>G	ENST00000536889.1	-	3	820	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	BEX2_ENST00000372674.1_Missense_Mutation_p.E123Q|BEX2_ENST00000372677.3_Missense_Mutation_p.E123Q	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	123					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483000													34	47					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751672	76751672	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:76751672C>T	ENST00000533140.1	+	2	1215	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	B3GNT6_ENST00000421061.1_Silent_p.F237F|B3GNT6_ENST00000354301.5_Silent_p.F358F			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	358					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TGCACCGCTTCGCGCCCTACG	0.667000													9	11					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149035254	149035254	+	Splice_Site	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:149035254C>T	ENST00000355292.3	-	8	3174		c.e8+1		NR3C2_ENST00000511528.1_Splice_Site|NR3C2_ENST00000358102.3_Splice_Site|NR3C2_ENST00000342437.4_Splice_Site|NR3C2_ENST00000344721.4_Splice_Site|NR3C2_ENST00000512865.1_Splice_Site			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCTCTACTCACGTCATGCATG	0.498000													19	12					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38890888	38890888	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:38890888C>G	ENST00000359357.3	+	70	10320	c.10066C>G	c.(10066-10068)Ctc>Gtc	p.L3356V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3320V|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3573V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCCTCCACTCTCATCGATGG	0.448000													14	34					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710430	18710430	+	Silent	SNP	G	G	A	rs139923667		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:18710430G>A	ENST00000392386.3	-	2	535	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	114	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTGGCACACGAGGTTGTCCC	0.672000													21	55					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105025701	105025701	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:105025701C>G	ENST00000507740.1	+	16	2754	c.2518C>G	c.(2518-2520)Cac>Gac	p.H840D	RIMS2_ENST00000262231.10_Missense_Mutation_p.H865D|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.H1026D	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1088	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCCATATCACAGATCCAG	0.488000										HNSCC(12;0.0054)			21	63					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38172859	38172859	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:38172859A>G	ENST00000379747.4	-	1	122	c.5T>C	c.(4-6)aTt>aCt	p.I2T	POSTN_ENST00000379742.4_Missense_Mutation_p.I2T|POSTN_ENST00000541481.1_Missense_Mutation_p.I2T|POSTN_ENST00000379743.4_Missense_Mutation_p.I2T|POSTN_ENST00000379749.4_Missense_Mutation_p.I2T|POSTN_ENST00000541179.1_Missense_Mutation_p.I2T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	2					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAAAAAGGGAATCATCTTGAG	0.428000													16	39					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447693	100447693	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:100447693C>A	ENST00000240851.4	+	4	746	c.406C>A	c.(406-408)Cct>Act	p.P136T	TFG_ENST00000490574.1_Missense_Mutation_p.P136T|TFG_ENST00000476228.1_Missense_Mutation_p.P136T|TFG_ENST00000418917.2_Missense_Mutation_p.P136T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	136					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCAATATTCCTGAAAATGG	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								17	68					3.32936e-07	3.49824e-07	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	6	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													2	4	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	8	---	---	---	---					
KRTAP5-7	440050	broad.mit.edu	37	11	71238403	71238405	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:71238403_71238405delCGG	ENST00000398536.4	+	1	91_93	c.57_59delCGG	c.(55-60)tcc>tc	p.SG19del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	19						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGCTCCGGCTGTGGGGGC	0.660													7	1341	---	---	---	---					
MPP5	64398	broad.mit.edu	37	14	67790455	67790456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:67790455_67790456insA	ENST00000261681.4	+	14	2438_2439	c.1777_1778insA	c.(1777-1779)tatfs	p.Y593fs	MPP5_ENST00000555925.1_Frame_Shift_Ins_p.Y559fs|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	593	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTTGAAACCATATATTATCTTC	0.327													11	50	---	---	---	---					
RP11-166B2.1	0	broad.mit.edu	37	16	12021340	12021341	+	In_Frame_Ins	INS	-	-	TGG			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:12021340_12021341insTGG	ENST00000399147.4	-	8	1082_1083	c.1083_1084insCCA	c.(1081-1086)gacacc>gaCCAcacc	p.361_362DT>DHT																	lung(2)	2						TCGGGTGGTGATTCCACCTCAG	0.609													4	8	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578237	7578261	+	Frame_Shift_Del	DEL	CTCCACACGCAAATTTCCTTCCACT	CTCCACACGCAAATTTCCTTCCACT	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:7578237_7578261delCTCCACACGCAAATTTCCTTCCACT	ENST00000420246.2	-	6	720_744	c.588_612delAGTGGAAGGAAATTTGCGTGTGGAG	c.(586-612)cgfs	p.RVEGNLRVE196fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RVEGNLRVE196fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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.E204*(33)|p.E198*(27)|p.V197G(14)|p.G199E(11)|p.G199V(11)|p.V197M(10)|p.G199R(9)|p.V197E(8)|p.0?(8)|p.L201F(7)|p.N200fs*47(7)|p.V197L(6)|p.V203E(6)|p.R202S(6)|p.E198K(5)|p.G199fs*48(5)|p.?(5)|p.L201fs*46(4)|p.R196R(4)|p.A189_V197delAPPQHLIRV(4)|p.R202H(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.E105*(3)|p.V203L(3)|p.E111*(3)|p.V203fs*44(3)|p.V203V(3)|p.P191_E198>Q(3)|p.G199*(3)|p.R202L(3)|p.E66*(3)|p.E204fs*5(3)|p.E72*(3)|p.V197V(2)|p.E204fs*43(2)|p.E198Q(2)|p.V203M(2)|p.N200S(2)|p.N200I(2)|p.G67V(2)|p.N200fs*9(2)|p.G106V(2)|p.G199G(2)|p.V203fs*6(2)|p.E198fs*11(2)|p.E204K(2)|p.E204G(2)|p.E204E(2)|p.L201P(1)|p.L201S(1)|p.V197A(1)|p.L201L(1)|p.E204fs*39(1)|p.P59_E66>Q(1)|p.L201fs*8(1)|p.E198G(1)|p.E198_L201>V(1)|p.V65L(1)|p.E198fs*49(1)|p.N200T(1)|p.L201*(1)|p.V203A(1)|p.Y205fs*43(1)|p.E204_N210delEYLDDRN(1)|p.I195fs*50(1)|p.G199fs*42(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*8(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.P98_E105>Q(1)|p.R202fs*7(1)|p.E111D(1)|p.G199A(1)|p.P191fs*6(1)|p.G67fs*>24(1)|p.V104L(1)|p.R202G(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.R202R(1)|p.I195_G199delIRVEG(1)|p.E198_G199ins21(1)|p.E72D(1)|p.N200D(1)|p.L201_R202>FC(1)|p.V203_E204>LV(1)|p.G106fs*48(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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)		CATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGAT	0.556		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)			14	36	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)caa>ca	p.QQ339del	CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	339	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													8	70	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													6	11	---	---	---	---					
RP11-382F24.2	0	broad.mit.edu	37	X	55308335	55308336	+	RNA	INS	-	-	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:55308335_55308336insA	ENST00000440645.1	+	0	142_143																											AGAAGAGGAGCCACCAACTGAA	0.441													6	4	---	---	---	---