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
KIAA1751	85452	broad.mit.edu	37	1	1919973	1919973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:1919973C>A	uc001aim.1	-	4	430	c.274G>T	c.(274-276)GAG>TAG	p.E92*	KIAA1751_uc009vkz.1_Nonsense_Mutation_p.E92*|KIAA1751_uc001ain.1_Nonsense_Mutation_p.E92*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	92										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTGAAAAGCTCTTGCTCCTCA	0.562												
MORN1	79906	broad.mit.edu	37	1	2318864	2318864	+	Missense_Mutation	SNP	G	G	A	rs144594161	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:2318864G>A	uc001ajb.1	-	4	373	c.352C>T	c.(352-354)CGG>TGG	p.R118W	MORN1_uc009vld.2_Missense_Mutation_p.R94W|MORN1_uc001ajd.1_Missense_Mutation_p.R118W|MORN1_uc010nyy.1_Silent_p.C60C	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	118	MORN 4.									ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGACCTTCCCGCATGCCGTGG	0.602												
SLC2A5	6518	broad.mit.edu	37	1	9118284	9118284	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:9118284G>A	uc001apo.2	-	2	351	c.59C>T	c.(58-60)GCA>GTA	p.A20V	SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Missense_Mutation_p.A20V|SLC2A5_uc010oac.1_Missense_Mutation_p.A20V|SLC2A5_uc001app.3_Missense_Mutation_p.A20V	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	20	Helical; Name=1; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAGGGTTGCCAGGGCAAG	0.572												
NMNAT1	64802	broad.mit.edu	37	1	10032227	10032227	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:10032227G>A	uc001aqp.2	+	2	240	c.96G>A	c.(94-96)AAG>AAA	p.K32K		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	nicotinamide mononucleotide adenylyltransferase	32					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCAAGGACTACATGA	0.363												
AADACL3	126767	broad.mit.edu	37	1	12779578	12779578	+	Silent	SNP	G	G	A	rs139336643	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:12779578G>A	uc009vnn.1	+	2	332	c.99G>A	c.(97-99)ACG>ACA	p.T33T	AADACL3_uc001aug.1_Intron	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	33							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGGTCACGGATTTCCGCT	0.512												
PRAMEF1	65121	broad.mit.edu	37	1	12853598	12853598	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:12853598T>C	uc001auj.1	+	2	325	c.222T>C	c.(220-222)CAT>CAC	p.H74H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	74											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGACGCTTCATTTGGAGACCT	0.557												
TAS1R2	80834	broad.mit.edu	37	1	19166144	19166144	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19166144C>T	uc001bba.1	-	6	2470	c.2469G>A	c.(2467-2469)ACG>ACA	p.T823T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	823	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGGCGGGCGTGTTGCGCT	0.612												
UBR4	23352	broad.mit.edu	37	1	19423058	19423058	+	Missense_Mutation	SNP	C	C	T	rs142148172		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19423058C>T	uc001bbi.2	-	92	13481	c.13477G>A	c.(13477-13479)GCA>ACA	p.A4493T	UBR4_uc010ocv.1_Missense_Mutation_p.A56T|UBR4_uc009vph.2_Missense_Mutation_p.A127T|UBR4_uc010ocw.1_Missense_Mutation_p.A157T|UBR4_uc001bbg.2_Missense_Mutation_p.A204T|UBR4_uc001bbh.2_Missense_Mutation_p.A202T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4493					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGATCCCTGCGAGTCTGTTA	0.498												
HTR6	3362	broad.mit.edu	37	1	19992867	19992867	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19992867C>A	uc001bcl.2	+	1	1088	c.621C>A	c.(619-621)ACC>ACA	p.T207T		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	207	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TATGCTTCACCTACTGCAGGA	0.667												
UBXN11	91544	broad.mit.edu	37	1	26610635	26610635	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:26610635G>T	uc001blw.2	-	13	1348	c.1075C>A	c.(1075-1077)CAG>AAG	p.Q359K	UBXN11_uc001blz.1_Missense_Mutation_p.Q326K|UBXN11_uc001blv.2_Missense_Mutation_p.Q321K|UBXN11_uc001bly.2_Missense_Mutation_p.Q239K|UBXN11_uc001blx.2_Missense_Mutation_p.Q117K|UBXN11_uc001bma.2_Missense_Mutation_p.Q326K|UBXN11_uc001bmb.1_Missense_Mutation_p.Q359K	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	359						cytoplasm|cytoskeleton				ovary(1)	1						GGCCTCACCTGCAAGGTGTCC	0.577												
BAI2	576	broad.mit.edu	37	1	32207741	32207741	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:32207741G>A	uc001btn.2	-	8	1684	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	BAI2_uc010ogo.1_Missense_Mutation_p.R86W|BAI2_uc010ogp.1_Missense_Mutation_p.R377W|BAI2_uc010ogq.1_Missense_Mutation_p.R444W|BAI2_uc001bto.2_Missense_Mutation_p.R444W|BAI2_uc001btq.1_Missense_Mutation_p.R377W|BAI2_uc010ogr.1_Missense_Mutation_p.R377W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	444	TSP type-1 3.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCACTTCCGGCTGCGCTGT	0.667												
CSMD2	114784	broad.mit.edu	37	1	34238278	34238278	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:34238278C>T	uc001bxn.1	-	13	1647	c.1618G>A	c.(1618-1620)GGT>AGT	p.G540S	CSMD2_uc001bxm.1_Missense_Mutation_p.G580S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	540	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTGTGTCACCGTGGTGAAAC	0.542												
CSMD2	114784	broad.mit.edu	37	1	34401395	34401395	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:34401395G>A	uc001bxn.1	-	4	587	c.558C>T	c.(556-558)AGC>AGT	p.S186S	CSMD2_uc001bxm.1_Silent_p.S226S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	186	Sushi 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCACGTGGCGCTGTTCTCAG	0.632												
COL9A2	1298	broad.mit.edu	37	1	40775807	40775807	+	Silent	SNP	G	G	A	rs150444024	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:40775807G>A	uc001cfh.1	-	15	838	c.768C>T	c.(766-768)GGC>GGT	p.G256G	COL9A2_uc001cfi.1_Silent_p.G75G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	256	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CACCGATAGCGCCCACCATGC	0.617												
HIVEP3	59269	broad.mit.edu	37	1	42045430	42045430	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:42045430G>A	uc001cgz.3	-	4	6252	c.5039C>T	c.(5038-5040)TCC>TTC	p.S1680F	HIVEP3_uc001cha.3_Missense_Mutation_p.S1680F|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCTTGCGGGAGCTGGATGG	0.512												
ZNF691	51058	broad.mit.edu	37	1	43317170	43317170	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:43317170G>A	uc001cih.2	+	2	673	c.622G>A	c.(622-624)GCC>ACC	p.A208T	ZNF691_uc001cig.2_Missense_Mutation_p.A181T|ZNF691_uc009vwm.2_Missense_Mutation_p.A201T	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	212	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCCAGAGTGCCACGCTAGC	0.602												
PTPRF	5792	broad.mit.edu	37	1	44069448	44069448	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:44069448G>A	uc001cjr.2	+	16	2965	c.2625G>A	c.(2623-2625)CAG>CAA	p.Q875Q	PTPRF_uc001cjs.2_Silent_p.Q866Q|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.Q435Q|PTPRF_uc001cjv.2_Silent_p.Q335Q|PTPRF_uc001cjw.2_Silent_p.Q101Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	875	Extracellular (Potential).|Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGATGACCAGCACTTCACAG	0.622												
TMEM53	79639	broad.mit.edu	37	1	45120567	45120567	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:45120567G>A	uc001cmc.2	-	3	534	c.498C>T	c.(496-498)GCC>GCT	p.A166A	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.A93A|TMEM53_uc009vxh.1_Silent_p.A49A|TMEM53_uc010ola.1_Silent_p.A49A	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	166						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GCAGCATGGCGGCCCGGCGCT	0.662												
PTCH2	8643	broad.mit.edu	37	1	45292983	45292983	+	Splice_Site	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:45292983T>C	uc010olf.1	-	16	2384	c.2372_splice	c.e16-1	p.G791_splice	PTCH2_uc010olg.1_Splice_Site_p.G489_splice	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTGGATTCCTGGGGGAGACC	0.642									Basal_Cell_Nevus_syndrome			
CYP4B1	1580	broad.mit.edu	37	1	47279636	47279636	+	Missense_Mutation	SNP	C	C	T	rs144659997	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:47279636C>T	uc001cqm.3	+	6	757	c.673C>T	c.(673-675)CGC>TGC	p.R225C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R62C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R226C|CYP4B1_uc009vym.2_Missense_Mutation_p.R211C|CYP4B1_uc010omk.1_Missense_Mutation_p.R62C|CYP4B1_uc010oml.1_Missense_Mutation_p.R63C	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	225					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GATGCAGCAGCGCCTTGTGTC	0.582												
SLC5A9	200010	broad.mit.edu	37	1	48701406	48701406	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:48701406C>T	uc001cro.2	+	10	1199	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408W|SLC5A9_uc010omt.1_Missense_Mutation_p.R397W|SLC5A9_uc001crp.2_Missense_Mutation_p.R50W|SLC5A9_uc010omu.1_Missense_Mutation_p.R50W	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCCAGGTCTGCGGGGGCTGAT	0.582												
DNAJC6	9829	broad.mit.edu	37	1	65852598	65852598	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:65852598C>T	uc001dcd.1	+	8	1092	c.928C>T	c.(928-930)CGG>TGG	p.R310W	DNAJC6_uc001dcc.1_Missense_Mutation_p.R341W|DNAJC6_uc010opc.1_Missense_Mutation_p.R297W|DNAJC6_uc001dce.1_Missense_Mutation_p.R367W	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	310	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						CATTGGGAGCCGGCTACAGGC	0.428												
IL23R	149233	broad.mit.edu	37	1	67724745	67724745	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:67724745T>C	uc001ddo.2	+	11	1909	c.1824T>C	c.(1822-1824)ATT>ATC	p.I608I	IL23R_uc009waz.2_Silent_p.I405I|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Silent_p.I206I|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Silent_p.I190I|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Silent_p.I354I|IL23R_uc010opn.1_Silent_p.I453I|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Silent_p.I405I|IL23R_uc010opt.1_Silent_p.I249I|IL23R_uc010opu.1_Silent_p.I304I|IL23R_uc010opv.1_Silent_p.I366I|IL23R_uc010opw.1_Silent_p.I243I|IL23R_uc010opx.1_Silent_p.I249I|IL23R_uc010opy.1_Silent_p.I375I|IL23R_uc010opz.1_Silent_p.I249I|IL23R_uc010oqa.1_Silent_p.I249I|IL23R_uc010oqb.1_Silent_p.I437I|IL23R_uc010oqc.1_Silent_p.I324I|IL23R_uc010oqd.1_Silent_p.I243I|IL23R_uc010oqe.1_Silent_p.I206I|IL23R_uc010oqf.1_Silent_p.I206I|IL23R_uc010oqg.1_Silent_p.I206I|IL23R_uc010oqh.1_Silent_p.I249I|IL23R_uc001dds.2_Silent_p.I353I|IL23R_uc001ddt.2_Silent_p.I206I	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	608	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						TGCCATCTATTAATACTTATT	0.388												
HHLA3	11147	broad.mit.edu	37	1	70820683	70820683	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:70820683C>T	uc001dfa.2	+	1	191	c.49C>T	c.(49-51)CCT>TCT	p.P17S	ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_RNA|HHLA3_uc001dfb.2_Missense_Mutation_p.P17S|HHLA3_uc001dfc.2_Missense_Mutation_p.P17S	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3 isoform 2	17							protein binding				0						CGGATCTGAGCCTCCCGCAGA	0.468												
LRRIQ3	127255	broad.mit.edu	37	1	74648472	74648472	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:74648472C>A	uc001dfy.3	-	3	515	c.323G>T	c.(322-324)GGG>GTG	p.G108V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	108	LRR 3.									ovary(2)	2						CTTTGCAAACCCATTGTCATG	0.313												
SSX2IP	117178	broad.mit.edu	37	1	85136860	85136860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:85136860C>A	uc001dkh.2	-	3	318	c.43G>T	c.(43-45)GAA>TAA	p.E15*	SSX2IP_uc001dkf.2_5'Flank|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Intron|SSX2IP_uc001dki.2_Nonsense_Mutation_p.E15*|SSX2IP_uc010osa.1_Intron|SSX2IP_uc001dkj.2_Nonsense_Mutation_p.E15*|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Intron	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	15					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTTAATTACCTGAAGACAGA	0.343												
CLCA4	22802	broad.mit.edu	37	1	87025638	87025638	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:87025638G>A	uc009wcs.2	+	2	227	c.183G>A	c.(181-183)ACG>ACA	p.T61T	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAGCTTCTACGTACCTGTTTG	0.348												
CLCA4	22802	broad.mit.edu	37	1	87043755	87043755	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:87043755G>A	uc009wcs.2	+	12	2166	c.2122G>A	c.(2122-2124)GGG>AGG	p.G708R	CLCA4_uc009wct.2_Missense_Mutation_p.G471R|CLCA4_uc009wcu.2_Missense_Mutation_p.G528R	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	708						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGTAGTGAACGGTGAGTAACT	0.388												
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:92568203G>T	uc001doo.2	+	3	788	c.521G>T	c.(520-522)AGA>ATA	p.R174I	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333												
ABCA4	24	broad.mit.edu	37	1	94520763	94520763	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:94520763C>A	uc001dqh.2	-	16	2595	c.2491G>T	c.(2491-2493)GGG>TGG	p.G831W	ABCA4_uc010otn.1_Missense_Mutation_p.G757W	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	831					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATTCGTCCCCTTCCGTGGGA	0.537												
LPPR4	9890	broad.mit.edu	37	1	99771242	99771242	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:99771242G>A	uc001dse.2	+	7	1074	c.968G>A	c.(967-969)GGC>GAC	p.G323D	LPPR4_uc010oue.1_Missense_Mutation_p.G265D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	323	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAACACTAGGGCTTGTATGCT	0.453												
ATXN7L2	127002	broad.mit.edu	37	1	110033760	110033760	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110033760C>T	uc001dxr.2	+	10	1590	c.1575C>T	c.(1573-1575)TGC>TGT	p.C525C	ATXN7L2_uc001dxs.2_Silent_p.C152C|ATXN7L2_uc001dxt.2_Silent_p.C28C|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	525										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGCAGAGTGCATGGGCGGGA	0.657											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR61	83873	broad.mit.edu	37	1	110086193	110086193	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110086193C>A	uc001dxy.2	+	2	1232	c.549C>A	c.(547-549)TCC>TCA	p.S183S		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	183	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGGGTCTCCTGGGAGGAAG	0.607												
KCNC4	3749	broad.mit.edu	37	1	110765765	110765765	+	Silent	SNP	C	C	T	rs151032487		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110765765C>T	uc001dzh.2	+	2	915	c.858C>T	c.(856-858)GGC>GGT	p.G286G	KCNC4_uc001dzf.2_Silent_p.G286G|KCNC4_uc009wfr.2_Silent_p.G286G|KCNC4_uc001dzg.2_Silent_p.G286G|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	286	Helical; Name=Segment S2; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACATCGAGGGCGTATGTGTGC	0.582												
RBM15	64783	broad.mit.edu	37	1	110882916	110882916	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110882916G>T	uc001dzl.1	+	1	972	c.889G>T	c.(889-891)GGC>TGC	p.G297C	RBM15_uc001dzm.1_Missense_Mutation_p.G297C|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	297					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCCCTGGTGGCGCTGCTTT	0.627			T	MKL1	acute megakaryocytic leukemia							
WNT2B	7482	broad.mit.edu	37	1	113052050	113052050	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:113052050G>A	uc001ecb.2	+	1	681	c.166G>A	c.(166-168)GTA>ATA	p.V56I	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	56					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCGGCCCGCGTAGACACGTC	0.721												
NOTCH2	4853	broad.mit.edu	37	1	120493447	120493447	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:120493447C>A	uc001eik.2	-	15	2635	c.2379G>T	c.(2377-2379)CAG>CAT	p.Q793H	NOTCH2_uc001eil.2_Missense_Mutation_p.Q793H|NOTCH2_uc001eim.3_Missense_Mutation_p.Q710H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	793	Extracellular (Potential).|EGF-like 20; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATATTCACCTGGCAGTTAT	0.408			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	144922001	144922001	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:144922001T>A	uc001elw.3	-	9	1319	c.1028A>T	c.(1027-1029)GAT>GTT	p.D343V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D409V|PDE4DIP_uc001emc.1_Missense_Mutation_p.D343V|PDE4DIP_uc001emd.1_Missense_Mutation_p.D343V|PDE4DIP_uc001emb.1_Missense_Mutation_p.D506V|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.D130V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	343					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCTGAAGATCAAGCAGAGC	0.493			T	PDGFRB	MPD							
HFE2	148738	broad.mit.edu	37	1	145415461	145415461	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:145415461G>A	uc001eni.2	+	3	605	c.280G>A	c.(280-282)GCC>ACC	p.A94T	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	94					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGGCGCACCGCCCGCACCTG	0.692												
TMOD4	29765	broad.mit.edu	37	1	151145996	151145996	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151145996C>T	uc001exc.3	-	4	566	c.376G>A	c.(376-378)GCT>ACT	p.A126T	TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Intron	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	126					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACATTTCAGCATCTGTGGCA	0.547												
TDRKH	11022	broad.mit.edu	37	1	151753980	151753980	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151753980G>A	uc009wnb.1	-	3	390	c.208C>T	c.(208-210)CGG>TGG	p.R70W	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Missense_Mutation_p.R70W|TDRKH_uc001ezc.3_Missense_Mutation_p.R70W|TDRKH_uc001eza.3_Missense_Mutation_p.R70W|TDRKH_uc001ezd.3_Missense_Mutation_p.R70W|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	70	KH 1.						RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCTTGCCGGCCAATGATG	0.463												
LINGO4	339398	broad.mit.edu	37	1	151774063	151774063	+	Missense_Mutation	SNP	C	C	T	rs142939659		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151774063C>T	uc001ezf.1	-	2	1308	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	373	Extracellular (Potential).|LRRCT.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTGGCGGCGGAGCCGGAG	0.617												
TCHH	7062	broad.mit.edu	37	1	152081442	152081442	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:152081442G>A	uc001ezp.2	-	2	4251	c.4251C>T	c.(4249-4251)CGC>CGT	p.R1417R	TCHH_uc009wne.1_Silent_p.R1417R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1417	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCTCGCGGAATTTTC	0.587												
RUSC1	23623	broad.mit.edu	37	1	155291940	155291940	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:155291940C>A	uc001fkj.2	+	2	605	c.376C>A	c.(376-378)CTC>ATC	p.L126I	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.L126I|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	126						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTTGCGGGACCTCCCTGGTGA	0.647												
YY1AP1	55249	broad.mit.edu	37	1	155630355	155630355	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:155630355C>T	uc001fln.2	-	11	1508	c.1484G>A	c.(1483-1485)CGG>CAG	p.R495Q	YY1AP1_uc001flg.2_Missense_Mutation_p.R234Q|YY1AP1_uc010pgg.1_Missense_Mutation_p.R334Q|YY1AP1_uc010pgh.1_Missense_Mutation_p.R438Q|YY1AP1_uc010pgi.1_Missense_Mutation_p.R587Q|YY1AP1_uc001flh.2_Missense_Mutation_p.R567Q|YY1AP1_uc009wqt.2_Missense_Mutation_p.R418Q|YY1AP1_uc001flk.2_Missense_Mutation_p.R438Q|YY1AP1_uc001fll.2_Missense_Mutation_p.R449Q|YY1AP1_uc009wqv.2_Missense_Mutation_p.R166Q|YY1AP1_uc001flm.2_Missense_Mutation_p.R438Q|YY1AP1_uc001fli.2_Missense_Mutation_p.R449Q|YY1AP1_uc009wqu.2_Missense_Mutation_p.R282Q|YY1AP1_uc001flj.2_Missense_Mutation_p.R429Q|YY1AP1_uc009wqw.2_Missense_Mutation_p.R418Q|YY1AP1_uc001flo.2_Missense_Mutation_p.R383Q|YY1AP1_uc001flp.2_Missense_Mutation_p.R449Q|YY1AP1_uc010pgj.1_3'UTR	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	495					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTGAGGAATCCGGAGCACCAT	0.552												
NES	10763	broad.mit.edu	37	1	156639679	156639679	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:156639679G>T	uc001fpq.2	-	4	4434	c.4301C>A	c.(4300-4302)GCT>GAT	p.A1434D		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1434	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACCGCCCAGCCCCTGGctc	0.458												
FCRL3	115352	broad.mit.edu	37	1	157660199	157660199	+	Silent	SNP	G	G	A	rs141302640		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:157660199G>A	uc001frb.2	-	9	1828	c.1536C>T	c.(1534-1536)CAC>CAT	p.H512H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.H512H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.H238H|FCRL3_uc001frc.1_Silent_p.H512H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	512	Ig-like C2-type 6.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGTCATCCTCGTGATAAAACC	0.582												
FCRL3	115352	broad.mit.edu	37	1	157665355	157665355	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:157665355G>C	uc001frb.2	-	8	1467	c.1175C>G	c.(1174-1176)GCC>GGC	p.A392G	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A392G|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A118G|FCRL3_uc001frc.1_Missense_Mutation_p.A392G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	392	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CACAGTGTGGGCCCTGGGAGC	0.572												
SPTA1	6708	broad.mit.edu	37	1	158647573	158647573	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158647573G>T	uc001fst.1	-	7	1063	c.864C>A	c.(862-864)ACC>ACA	p.T288T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	288	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGTCCTCAGAGGTGAGTACAG	0.463												
MNDA	4332	broad.mit.edu	37	1	158813189	158813189	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158813189G>T	uc001fsz.1	+	3	586	c.386G>T	c.(385-387)AGG>ATG	p.R129M		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	129					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GCAAGAGGGAGGATTCCTGTA	0.473												
PYHIN1	149628	broad.mit.edu	37	1	158914815	158914815	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158914815A>G	uc001ftb.2	+	7	1587	c.1342A>G	c.(1342-1344)AGC>GGC	p.S448G	PYHIN1_uc001ftc.2_Missense_Mutation_p.S439G|PYHIN1_uc001ftd.2_Missense_Mutation_p.S448G|PYHIN1_uc001fte.2_Missense_Mutation_p.S439G	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	448					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					AACCCCATCCAGCAGTTCCTT	0.458												
IGSF9	57549	broad.mit.edu	37	1	159900491	159900491	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:159900491C>A	uc001fur.2	-	14	2002	c.1804G>T	c.(1804-1806)GCT>TCT	p.A602S	IGSF9_uc001fuq.2_Missense_Mutation_p.A586S|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	602	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCCGGAGCAGACAAGACG	0.607												
FCGR2A	2212	broad.mit.edu	37	1	161487843	161487843	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:161487843G>A	uc001gan.2	+	7	912	c.859G>A	c.(859-861)GGC>AGC	p.G287S	FCGR2A_uc001gam.2_Missense_Mutation_p.G286S|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	287	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCTGACGGCGGCTACATGAC	0.299												
SH2D1B	117157	broad.mit.edu	37	1	162372593	162372593	+	Splice_Site	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:162372593C>A	uc001gbz.1	-	2	257	c.135_splice	c.e2-1	p.S45_splice	SH2D1B_uc001gca.1_Splice_Site_p.S45_splice	NM_053282	NP_444512	O14796	SH21B_HUMAN	SH2 domain containing 1B											pancreas(1)	1	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTTTAAACCTGTGGAAAAA	0.343												
GPA33	10223	broad.mit.edu	37	1	167024308	167024308	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:167024308G>A	uc001gea.1	-	6	1076	c.732C>T	c.(730-732)GGC>GGT	p.G244G		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	244	Helical; (Potential).					integral to plasma membrane	receptor activity				0						CTGCAACCACGCCCACCGCGA	0.582												
SLC19A2	10560	broad.mit.edu	37	1	169446634	169446634	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:169446634C>T	uc001gge.3	-	2	770	c.566G>A	c.(565-567)AGC>AAC	p.S189N	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	189	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					GACATTCAGGCTGAACAGCGA	0.493												
BAT2L2	23215	broad.mit.edu	37	1	171504578	171504578	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:171504578G>A	uc010pmg.1	+	13	2145	c.1879G>A	c.(1879-1881)GTT>ATT	p.V627I		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	627	Glu-rich.						protein C-terminus binding				0						GGAGGAACCCGTTTTCACTAG	0.423												
PIGC	5279	broad.mit.edu	37	1	172411046	172411046	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:172411046G>A	uc001gil.2	-	2	998	c.717C>T	c.(715-717)GCC>GCT	p.A239A	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Silent_p.A239A|PIGC_uc001gio.2_Silent_p.A239A	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	239	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GGCCTCCCACGGCTGAAAATG	0.507												
CACNA1E	777	broad.mit.edu	37	1	181620522	181620522	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:181620522C>A	uc001gow.2	+	7	1165	c.1000C>A	c.(1000-1002)CTC>ATC	p.L334I	CACNA1E_uc009wxr.2_Missense_Mutation_p.L241I|CACNA1E_uc009wxs.2_Missense_Mutation_p.L241I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	334	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CTTCATCCCCCTCATCATCAT	0.433												
GLUL	2752	broad.mit.edu	37	1	182353567	182353567	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:182353567G>A	uc001gpa.1	-	7	1307	c.1095C>T	c.(1093-1095)GGC>GGT	p.G365G	GLUL_uc010pnt.1_Silent_p.G152G|GLUL_uc001gpb.1_Silent_p.G365G|GLUL_uc001gpc.1_Silent_p.G365G|GLUL_uc001gpd.1_Silent_p.G365G	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	365					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	AGGGCTCATCGCCGGTTTCAT	0.527												
DHX9	1660	broad.mit.edu	37	1	182856560	182856560	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:182856560C>T	uc001gpr.2	+	28	3967	c.3804C>T	c.(3802-3804)GGC>GGT	p.G1268G	DHX9_uc001gps.2_Silent_p.G1054G|DHX9_uc001gpt.2_Silent_p.G547G|DHX9_uc009wyd.2_Silent_p.G233G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1268				FGQGRGGGGY -> LDIEEEVAAIKLGYVSSVCRQ (in Ref. 1; AAB48855).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						GAGGAGGTGGCGGCTATTAAA	0.493												
HMCN1	83872	broad.mit.edu	37	1	186030998	186030998	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186030998G>A	uc001grq.1	+	47	7557	c.7328G>A	c.(7327-7329)CGG>CAG	p.R2443Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2443	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGGATGCTACGGCTGATGCAG	0.398												
HMCN1	83872	broad.mit.edu	37	1	186105833	186105833	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186105833C>T	uc001grq.1	+	87	13575	c.13346C>T	c.(13345-13347)ACT>ATT	p.T4449I	HMCN1_uc001grs.1_Missense_Mutation_p.T18I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4449	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCAGTGGAAACTGTTATTAAT	0.408												
TPR	7175	broad.mit.edu	37	1	186310500	186310500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186310500G>A	uc001grv.2	-	28	4069	c.3772C>T	c.(3772-3774)CAG>TAG	p.Q1258*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1258	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTCATGCTGAGCCATTGTT	0.348			T	NTRK1	papillary thyroid							
FAM58B	339521	broad.mit.edu	37	1	200183336	200183336	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:200183336C>T	uc009wzi.1	+	1	681	c.645C>T	c.(643-645)GTC>GTT	p.V215V		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	215					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					CCGCCGAGGTCGAGGCTGAGA	0.557												
PKP1	5317	broad.mit.edu	37	1	201286806	201286806	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:201286806G>T	uc001gwd.2	+	5	1204	c.953G>T	c.(952-954)AGC>ATC	p.S318I	PKP1_uc001gwe.2_Missense_Mutation_p.S318I|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	318	ARM 3.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GTGTTCAGGAGCACCACCAAC	0.652												
LAD1	3898	broad.mit.edu	37	1	201351409	201351409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:201351409G>A	uc001gwm.2	-	9	1754	c.1519C>T	c.(1519-1521)CAG>TAG	p.Q507*		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	507						basement membrane	structural molecule activity				0						TCAGATTTCTGTCCCCACTGA	0.602												
DSTYK	25778	broad.mit.edu	37	1	205138544	205138544	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:205138544A>G	uc001hbw.2	-	3	1135	c.1071T>C	c.(1069-1071)GAT>GAC	p.D357D	DSTYK_uc001hbx.2_Silent_p.D357D|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	357						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CCTTGGCTGCATCCACCAGGC	0.517												
PTPN14	5784	broad.mit.edu	37	1	214542949	214542949	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:214542949G>C	uc001hkk.1	-	17	3393	c.3122C>G	c.(3121-3123)ACC>AGC	p.T1041S		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1041	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAACTTCGTGGTGACCTTGAA	0.478												
PTPN14	5784	broad.mit.edu	37	1	214638021	214638021	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:214638021T>C	uc001hkk.1	-	2	397	c.126A>G	c.(124-126)ACA>ACG	p.T42T	PTPN14_uc010pty.1_Intron	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	42	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATTCTTGCCCTGTGCTTTCCA	0.587												
MARK1	4139	broad.mit.edu	37	1	220791774	220791774	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:220791774C>T	uc001hmn.3	+	8	1272	c.675C>T	c.(673-675)CCC>CCT	p.P225P	MARK1_uc009xdw.2_Silent_p.P225P|MARK1_uc010pun.1_Silent_p.P225P|MARK1_uc001hmm.3_Silent_p.P203P	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	225	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		ATGCTGCTCCCGAGCTTTTCC	0.428												
DISP1	84976	broad.mit.edu	37	1	223116452	223116452	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:223116452G>C	uc001hnu.1	+	2	434	c.287G>C	c.(286-288)AGT>ACT	p.S96T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	96					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGCCATAGCAGTCACCAAGAG	0.522												
OBSCN	84033	broad.mit.edu	37	1	228404781	228404781	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:228404781G>A	uc009xez.1	+	8	2489	c.2445G>A	c.(2443-2445)GCG>GCA	p.A815A	OBSCN_uc001hsn.2_Silent_p.A815A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	815	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGGCCCGGCGCAGTTTGAGT	0.647												
OBSCN	84033	broad.mit.edu	37	1	228476477	228476477	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:228476477G>A	uc009xez.1	+	38	10271	c.10227G>A	c.(10225-10227)AGG>AGA	p.R3409R	OBSCN_uc001hsn.2_Silent_p.R3409R|OBSCN_uc001hsq.1_Silent_p.R665R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3409	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATAGCCTGAGGCAGGACGGGG	0.657												
SIPA1L2	57568	broad.mit.edu	37	1	232629283	232629283	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:232629283C>A	uc001hvg.2	-	2	1765	c.1607G>T	c.(1606-1608)AGG>ATG	p.R536M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	536					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCACTTGTCCTGAAAGCCAC	0.468												
HEATR1	55127	broad.mit.edu	37	1	236755385	236755385	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:236755385A>T	uc001hyd.1	-	11	1455	c.1330T>A	c.(1330-1332)TTA>ATA	p.L444I		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	444					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTCCTCTAATACAACATCT	0.318												
OR1C1	26188	broad.mit.edu	37	1	247921546	247921546	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:247921546G>A	uc010pza.1	-	1	163	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGGAATGGAGGTGAGAGTCA	0.473												
OR2L2	26246	broad.mit.edu	37	1	248202124	248202124	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:248202124G>A	uc001idw.2	+	1	651	c.555G>A	c.(553-555)ACG>ACA	p.T185T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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;0.0278)			CTATGTTGACGCTAGCCTGCA	0.448												
UCN3	114131	broad.mit.edu	37	10	5415694	5415694	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:5415694C>T	uc001ihx.1	+	2	235	c.11C>T	c.(10-12)CCG>CTG	p.P4L		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	urocortin 3 preproprotein	4						extracellular region	hormone activity				0						ATGCTGATGCCGGTCCACTTC	0.602												
PTPLA	9200	broad.mit.edu	37	10	17632370	17632370	+	Missense_Mutation	SNP	T	T	A	rs140078758		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:17632370T>A	uc001ipg.2	-	7	895	c.860A>T	c.(859-861)GAT>GTT	p.D287V		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	287	Cytoplasmic (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						CATTTAATCATCCTTTTCTAC	0.323												
NEBL	10529	broad.mit.edu	37	10	21101815	21101815	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:21101815C>T	uc001iqi.2	-	24	2798	c.2401G>A	c.(2401-2403)GTG>ATG	p.V801M	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Missense_Mutation_p.V138M	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	801	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GGATCGTCCACGACGGGAGTA	0.463												
RET	5979	broad.mit.edu	37	10	43606743	43606743	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:43606743C>T	uc001jal.2	+	7	1542	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	RET_uc001jak.1_Missense_Mutation_p.T451M|RET_uc010qez.1_Missense_Mutation_p.T197M	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	451	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCAGCACGCTAGGGGTG	0.582		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
C10orf72	196740	broad.mit.edu	37	10	50315810	50315810	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50315810G>A	uc001jhf.2	-	2	315	c.286C>T	c.(286-288)CGG>TGG	p.R96W	C10orf72_uc001jhh.2_Missense_Mutation_p.R96W	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	96	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						AGCCTCCGCCGTTTGGCGCTG	0.607												
OGDHL	55753	broad.mit.edu	37	10	50955158	50955158	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50955158A>G	uc001jie.2	-	9	1226	c.1084T>C	c.(1084-1086)TCC>CCC	p.S362P	OGDHL_uc009xog.2_Missense_Mutation_p.S389P|OGDHL_uc010qgt.1_Missense_Mutation_p.S305P|OGDHL_uc010qgu.1_Missense_Mutation_p.S153P|OGDHL_uc009xoh.2_Missense_Mutation_p.S153P	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	362					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TCCAGGTGGGAGGGGTTGGCA	0.607												
OGDHL	55753	broad.mit.edu	37	10	50955201	50955201	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50955201G>A	uc001jie.2	-	9	1183	c.1041C>T	c.(1039-1041)CGC>CGT	p.R347R	OGDHL_uc009xog.2_Silent_p.R374R|OGDHL_uc010qgt.1_Silent_p.R290R|OGDHL_uc010qgu.1_Silent_p.R138R|OGDHL_uc009xoh.2_Silent_p.R138R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	347					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGTTGGTGACGCGGTTGATCC	0.587												
PCDH15	65217	broad.mit.edu	37	10	55581906	55581906	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:55581906G>T	uc001jju.1	-	33	5975	c.5580C>A	c.(5578-5580)TCC>TCA	p.S1860S	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.S1857S|PCDH15_uc010qhw.1_Silent_p.S1820S|PCDH15_uc010qhx.1_Silent_p.S1791S|PCDH15_uc010qhy.1_Silent_p.S1867S|PCDH15_uc010qhz.1_Silent_p.S1862S|PCDH15_uc010qia.1_Silent_p.S1840S|PCDH15_uc010qib.1_Silent_p.S1837S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1860	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTCATAGAGGACTTAATTT	0.388										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61958143	61958143	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:61958143G>A	uc001jky.2	-	14	1836	c.1644C>T	c.(1642-1644)GCC>GCT	p.A548A	ANK3_uc010qih.1_Silent_p.A531A|ANK3_uc001jkz.3_Silent_p.A542A|ANK3_uc001jlb.1_Silent_p.A77A|ANK3_uc001jlc.1_Silent_p.A209A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	548	ANK 15.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAAGGAACGCGGCCACATCCT	0.498												
DNA2	1763	broad.mit.edu	37	10	70202690	70202690	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70202690T>C	uc001jof.2	-	9	1657	c.1657A>G	c.(1657-1659)ATG>GTG	p.M553V	DNA2_uc001jog.1_Missense_Mutation_p.M467V|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	467					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GAAGCAGGCATTAGCCAGATA	0.368												
TET1	80312	broad.mit.edu	37	10	70332938	70332938	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70332938G>T	uc001jok.3	+	2	1348	c.843G>T	c.(841-843)AAG>AAT	p.K281N		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	281					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AATCTCTTAAGTTATCTGATT	0.428												
TET1	80312	broad.mit.edu	37	10	70450669	70450669	+	Missense_Mutation	SNP	G	G	A	rs146039331		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70450669G>A	uc001jok.3	+	12	6014	c.5509G>A	c.(5509-5511)GCT>ACT	p.A1837T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1837					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GATGCCATCCGCTCCTCACCC	0.483												
CDH23	64072	broad.mit.edu	37	10	73405660	73405660	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:73405660G>A	uc001jrx.3	+	12	1590	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCGACCTCCGTCCAGGGGAA	0.567												
KCNMA1	3778	broad.mit.edu	37	10	78713616	78713616	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:78713616G>A	uc001jxn.2	-	21	2604	c.2427C>T	c.(2425-2427)TAC>TAT	p.Y809Y	KCNMA1_uc001jxj.2_Silent_p.Y755Y|KCNMA1_uc001jxk.1_Silent_p.Y427Y|KCNMA1_uc009xrt.1_Silent_p.Y600Y|KCNMA1_uc001jxl.1_Silent_p.Y434Y|KCNMA1_uc001jxo.2_Silent_p.Y751Y|KCNMA1_uc001jxm.2_Silent_p.Y751Y|KCNMA1_uc001jxq.2_Silent_p.Y754Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	809	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGTAGAGTCGTACTTCTTCA	0.488												
FAM35A	54537	broad.mit.edu	37	10	88911847	88911847	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:88911847A>T	uc001kei.3	+	3	850	c.736A>T	c.(736-738)ATT>TTT	p.I246F		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	246										ovary(2)|skin(2)	4						TCTCAGTATAATTACCTCCAG	0.388												
PCGF5	84333	broad.mit.edu	37	10	93038067	93038067	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:93038067C>T	uc001khh.2	+	10	1012	c.765C>T	c.(763-765)TTC>TTT	p.F255F	PCGF5_uc010qnk.1_Silent_p.F255F|PCGF5_uc001khi.2_Silent_p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			lung(1)	1						GAATTGATTTCGGTTAGACCA	0.388												
ENTPD1	953	broad.mit.edu	37	10	97605164	97605164	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:97605164C>A	uc001klh.3	+	6	948	c.624C>A	c.(622-624)ACC>ACA	p.T208T	ENTPD1_uc001kle.1_Silent_p.T215T|ENTPD1_uc001kli.3_Silent_p.T215T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.T220T|ENTPD1_uc010qok.1_Silent_p.T100T|ENTPD1_uc010qol.1_Silent_p.T100T|ENTPD1_uc010qom.1_Silent_p.T208T|ENTPD1_uc010qon.1_Silent_p.T70T|ENTPD1_uc009xva.2_Silent_p.T70T|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	208	Extracellular (Potential).			T -> TGET (in Ref. 8; AA sequence).	cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATCAGGAAACCTTTGGAGCTT	0.463												
DNTT	1791	broad.mit.edu	37	10	98079060	98079060	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:98079060G>A	uc001kmf.2	+	3	590	c.420G>A	c.(418-420)CCG>CCA	p.P140P	DNTT_uc001kmg.2_Silent_p.P140P	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	140					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGCCCCCCGAAGACTCCAC	0.393												
HPS6	79803	broad.mit.edu	37	10	103825418	103825418	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:103825418C>G	uc001kuj.2	+	1	272	c.187C>G	c.(187-189)CCC>GCC	p.P63A		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	63						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GTCGCGAGGGCCCGGCGCGGA	0.761									Hermansky-Pudlak_syndrome			
NFKB2	4791	broad.mit.edu	37	10	104161261	104161261	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:104161261C>T	uc001kvb.2	+	20	2544	c.2279C>T	c.(2278-2280)CCG>CTG	p.P760L	NFKB2_uc001kva.2_Missense_Mutation_p.P760L|NFKB2_uc001kvd.2_Missense_Mutation_p.P760L|NFKB2_uc009xxc.2_Missense_Mutation_p.P760L	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	760			Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CCCCTGACCCCGCCCAGCCCA	0.602			T	IGH@	B-NHL							
TMEM180	79847	broad.mit.edu	37	10	104231116	104231116	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:104231116G>A	uc001kvt.2	+	6	1010	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	TMEM180_uc001kvs.2_Missense_Mutation_p.R113Q|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.R113Q|TMEM180_uc001kvu.2_Missense_Mutation_p.R264Q	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	264						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCACGCCATCGGAACTTCCTG	0.622												
DUSP5	1847	broad.mit.edu	37	10	112258088	112258088	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:112258088C>T	uc001kzd.2	+	1	464	c.209C>T	c.(208-210)GCG>GTG	p.A70V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	70	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCGACGAGGCGGCGCGCGCG	0.647												
VWA2	340706	broad.mit.edu	37	10	116049200	116049200	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:116049200G>A	uc001lbl.1	+	12	2395	c.2074G>A	c.(2074-2076)GCC>ACC	p.A692T	VWA2_uc001lbk.1_Missense_Mutation_p.A692T|VWA2_uc009xyf.1_Missense_Mutation_p.A388T	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	692	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GGCAGCTTACGCCGACCTGCG	0.647												
HTRA1	5654	broad.mit.edu	37	10	124266390	124266390	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124266390G>A	uc001lgj.2	+	4	1089	c.961G>A	c.(961-963)GCC>ACC	p.A321T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	321	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCAGACCGACGCCATCATCAA	0.592												
HMX3	340784	broad.mit.edu	37	10	124896863	124896863	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124896863G>A	uc010quc.1	+	2	690	c.690G>A	c.(688-690)ACG>ACA	p.T230T		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	230	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGAAGAAGACGCGCACAGTCT	0.667												
HMX3	340784	broad.mit.edu	37	10	124896921	124896921	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124896921C>T	uc010quc.1	+	2	748	c.748C>T	c.(748-750)CGC>TGC	p.R250C		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	250	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACATGAAGCGCTATCTGAG	0.612												
MMP21	118856	broad.mit.edu	37	10	127462428	127462428	+	Silent	SNP	C	C	T	rs150959910		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:127462428C>T	uc001liu.2	-	2	669	c.669G>A	c.(667-669)GCG>GCA	p.A223A		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	223					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATGTCGACCGCGGCCCCGG	0.731												
MKI67	4288	broad.mit.edu	37	10	129913669	129913669	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:129913669C>T	uc001lke.2	-	7	1198	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	335					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGAAAGCTGGCGCCCACAGCC	0.493												
KNDC1	85442	broad.mit.edu	37	10	134999993	134999993	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:134999993C>T	uc001llz.1	+	6	1142	c.1141C>T	c.(1141-1143)CGC>TGC	p.R381C	KNDC1_uc001lma.1_Missense_Mutation_p.R316C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGTGCAGGCCGCAGCACGGA	0.672												
ANO9	338440	broad.mit.edu	37	11	420496	420496	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:420496G>A	uc001lpi.2	-	19	1838	c.1753C>T	c.(1753-1755)CGG>TGG	p.R585W	ANO9_uc001lph.2_Missense_Mutation_p.R278W|ANO9_uc010qvv.1_Missense_Mutation_p.R441W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	585	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACCAGGCGCCGCTGCAACCAG	0.701												
DEAF1	10522	broad.mit.edu	37	11	688398	688398	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:688398G>A	uc001lqq.1	-	3	1143	c.450C>T	c.(448-450)GTC>GTT	p.V150V	DEAF1_uc009ycf.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	150					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CTGTGTGGACGACAATCAGTG	0.622												
MUC2	4583	broad.mit.edu	37	11	1094719	1094719	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1094719C>T	uc001lsx.1	+	34	12920	c.12893C>T	c.(12892-12894)ACT>ATT	p.T4298I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4298						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCCCCAGCACTGTGCAGACG	0.637												
MUC5B	727897	broad.mit.edu	37	11	1253735	1253735	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1253735G>A	uc009ycr.1	+	32	4002	c.3876G>A	c.(3874-3876)TCG>TCA	p.S1292S	MUC5B_uc009yct.1_Silent_p.S633S|MUC5B_uc001ltb.2_Silent_p.S636S|MUC5B_uc001lta.2_Silent_p.S301S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	633	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCTTCTCGCGCTGCCACT	0.672												
MUC5B	727897	broad.mit.edu	37	11	1268790	1268790	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1268790G>A	uc009ycr.1	+	50	12390	c.12264G>A	c.(12262-12264)TCG>TCA	p.S4088S	MUC5B_uc001ltb.2_Silent_p.S3563S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3560	7 X Cys-rich subdomain repeats.|Thr-rich.|HAT 2.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCCACATCGGCCCCCATAA	0.701												
KRTAP5-1	387264	broad.mit.edu	37	11	1605918	1605918	+	Missense_Mutation	SNP	C	C	T	rs145180041		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1605918C>T	uc001ltu.1	-	1	596	c.562G>A	c.(562-564)GGT>AGT	p.G188S	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	188	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAAGAACCGCAGCCCCCC	0.677												
FAM160A2	84067	broad.mit.edu	37	11	6239210	6239210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6239210G>A	uc001mcl.3	-	9	1965	c.1606C>T	c.(1606-1608)CGA>TGA	p.R536*	FAM160A2_uc001mck.3_Nonsense_Mutation_p.R550*|FAM160A2_uc001mcm.2_Nonsense_Mutation_p.R536*	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	536					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GTAGGCCGTCGGCCAGGGCTG	0.657												
CNGA4	1262	broad.mit.edu	37	11	6261463	6261463	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6261463G>A	uc001mco.2	+	4	546	c.439G>A	c.(439-441)GCG>ACG	p.A147T	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTCTCCGCGCGCCCCGCCT	0.587												
RRP8	23378	broad.mit.edu	37	11	6622702	6622702	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6622702A>G	uc001med.2	-	3	673	c.594T>C	c.(592-594)TGT>TGC	p.C198C	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	198					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						ACTTGTTCTTACATCTTCTCT	0.552												
DCHS1	8642	broad.mit.edu	37	11	6651257	6651257	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6651257C>T	uc001mem.1	-	10	5178	c.4768G>A	c.(4768-4770)GGC>AGC	p.G1590S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1590	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGAAGTGGCCGTCCCCGCCA	0.682												
OR2D2	120776	broad.mit.edu	37	11	6913341	6913341	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6913341G>A	uc010rau.1	-	1	391	c.391C>T	c.(391-393)CGT>TGT	p.R131C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTAGGGTAACGCAGAGGATTG	0.498												
MICAL2	9645	broad.mit.edu	37	11	12225871	12225871	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12225871C>T	uc001mjz.2	+	4	627	c.339C>T	c.(337-339)GTC>GTT	p.V113V	MICAL2_uc010rch.1_Silent_p.V113V|MICAL2_uc001mjy.2_Silent_p.V113V|MICAL2_uc001mka.2_Silent_p.V113V|MICAL2_uc010rci.1_Silent_p.V113V|MICAL2_uc001mkb.2_Silent_p.V113V|MICAL2_uc001mkc.2_Silent_p.V113V	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CCAAAGTGGTCGTGGTGGAGA	0.567												
MICAL2	9645	broad.mit.edu	37	11	12264287	12264287	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12264287G>A	uc001mjz.2	+	20	2914	c.2626G>A	c.(2626-2628)GCC>ACC	p.A876T	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.A876T|MICAL2_uc010rci.1_Missense_Mutation_p.A876T|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	876						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GGCTCACCTTGCCTCCATGTT	0.512												
FAR1	84188	broad.mit.edu	37	11	13749177	13749177	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:13749177C>T	uc001mld.2	+	11	1487	c.1332C>T	c.(1330-1332)TAC>TAT	p.Y444Y		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	444					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						CTAAGAAGTACGTATTGAATG	0.373												
NAV2	89797	broad.mit.edu	37	11	20078176	20078176	+	Splice_Site	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:20078176T>C	uc010rdm.1	+	21	5360	c.4999_splice	c.e21+2	p.V1667_splice	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2							nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ATGAGTTAGGTGAGTAAGCAG	0.448												
TCP11L1	55346	broad.mit.edu	37	11	33087384	33087384	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:33087384A>G	uc001mud.2	+	8	1381	c.981A>G	c.(979-981)TTA>TTG	p.L327L	TCP11L1_uc009yju.2_Silent_p.L142L|TCP11L1_uc010rei.1_Silent_p.L327L|TCP11L1_uc001mue.2_Silent_p.L327L|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	327											0						AGACAGTTTTAATGGACCAGT	0.592											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COMMD9	29099	broad.mit.edu	37	11	36293244	36293244	+	RNA	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:36293244G>T	uc009yki.1	-	2		c.328C>A						Q9P000	COMD9_HUMAN	Homo sapiens cDNA FLJ45212 fis, clone BRCAN2018667.											ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGAAGAGTGGGAATGGCATC	0.358												
CHST1	8534	broad.mit.edu	37	11	45672341	45672341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:45672341G>A	uc001mys.1	-	4	804	c.133C>T	c.(133-135)CGA>TGA	p.R45*		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	45	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCGCACAGTCGCTCGGCCAGC	0.667												
CREB3L1	90993	broad.mit.edu	37	11	46339020	46339020	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46339020G>A	uc001ncf.2	+	10	1675	c.1240G>A	c.(1240-1242)GTC>ATC	p.V414I	CREB3L1_uc001ncg.2_Missense_Mutation_p.V48I	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	414	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CGCAGACGGCGTCTACACGGC	0.657			T	FUS	myxofibrosarcoma							
ZNF408	79797	broad.mit.edu	37	11	46726912	46726912	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46726912G>A	uc001nde.1	+	5	1892	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	ZNF408_uc010rgw.1_Silent_p.P546P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	554	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						ACTTGTGCCCGGTGTGTGGCA	0.667												
LRP4	4038	broad.mit.edu	37	11	46918528	46918528	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46918528C>T	uc001ndn.3	-	8	960	c.814G>A	c.(814-816)GCA>ACA	p.A272T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	272	Extracellular (Potential).|LDL-receptor class A 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		AACTGTTCTGCCGTACACATG	0.552												
PACSIN3	29763	broad.mit.edu	37	11	47202237	47202237	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:47202237G>T	uc001ndw.2	-	5	554	c.216C>A	c.(214-216)CCC>CCA	p.P72P	PACSIN3_uc001ndx.2_Silent_p.P72P|PACSIN3_uc001ndy.2_Silent_p.P72P|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	72	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						TGCCATACTGGGGGCCTGCAG	0.652												
OR1S1	219959	broad.mit.edu	37	11	57982468	57982468	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:57982468T>C	uc010rkc.1	+	1	252	c.252T>C	c.(250-252)ATT>ATC	p.I84I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				TTGCTGATATTTCCTCCATTT	0.433												
OR5B2	390190	broad.mit.edu	37	11	58190331	58190331	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:58190331G>A	uc010rkg.1	-	1	404	c.404C>T	c.(403-405)ACG>ATG	p.T135M		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACACTGGCCGTCATGGTGGT	0.507												
GLYATL2	219970	broad.mit.edu	37	11	58602201	58602201	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:58602201G>T	uc001nnd.3	-	6	717	c.586C>A	c.(586-588)CTC>ATC	p.L196I	GLYATL2_uc009ymq.2_Missense_Mutation_p.L196I	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	196						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AAATCCTGGAGGCAGCGTTCA	0.448												
OSBP	5007	broad.mit.edu	37	11	59344479	59344479	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:59344479A>G	uc001noc.1	-	13	2560	c.2080T>C	c.(2080-2082)TAC>CAC	p.Y694H	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	694					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAGAAGTAGTACATGTTTTCT	0.458												
PATL1	219988	broad.mit.edu	37	11	59419061	59419061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:59419061G>A	uc001noe.3	-	12	1623	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*	PATL1_uc009yms.1_Nonsense_Mutation_p.R464*|PATL1_uc010rkw.1_Nonsense_Mutation_p.R199*	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	494	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						ATCATTTTTCGGGGATTATTC	0.368												
AHNAK	79026	broad.mit.edu	37	11	62303479	62303479	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:62303479C>T	uc001ntl.2	-	3	392	c.92G>A	c.(91-93)GGC>GAC	p.G31D	AHNAK_uc001ntk.1_Missense_Mutation_p.G31D	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	31	PDZ.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACAAAGACGCCGTCGTCCCT	0.647												
INTS5	80789	broad.mit.edu	37	11	62414812	62414812	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:62414812T>C	uc001nud.2	-	2	2793	c.2740A>G	c.(2740-2742)ATG>GTG	p.M914V	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	914					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCTCAGCCATGACAGCCACT	0.617												
LGALS12	85329	broad.mit.edu	37	11	63283104	63283104	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:63283104A>G	uc001nxa.2	+	8	1124	c.783A>G	c.(781-783)AGA>AGG	p.R261R	LGALS12_uc001nxb.2_Silent_p.R252R|LGALS12_uc001nxc.2_Silent_p.R262R|LGALS12_uc001nxd.2_Silent_p.R200R|LGALS12_uc001nxe.2_Silent_p.R191R|LGALS12_uc009yot.2_Silent_p.R221R	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	261	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						TCGCAGACAGAACTCTGGCCT	0.557												
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:63307030C>T	uc001nxf.3	+	2	120	c.52C>T	c.(52-54)CGC>TGC	p.R18C		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						TGAGATTTTCCGCCTTGGCTA	0.483												
SLC22A11	55867	broad.mit.edu	37	11	64337280	64337280	+	Silent	SNP	G	G	A	rs34836439		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64337280G>A	uc001oai.2	+	9	1913	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.P405P	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	513	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TCTTCCTCCCGGAGACCCAGG	0.622												
EHD1	10938	broad.mit.edu	37	11	64622143	64622143	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64622143C>T	uc001obu.1	-	5	1522	c.1267G>A	c.(1267-1269)GGG>AGG	p.G423R	EHD1_uc001obt.1_Missense_Mutation_p.G106R|EHD1_uc001obv.1_Missense_Mutation_p.G423R|EHD1_uc010rnq.1_Missense_Mutation_p.G437R	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	423					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						TAGCCGTGCCCGAACGGCCCG	0.667												
SLC22A20	440044	broad.mit.edu	37	11	64981434	64981434	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64981434G>A	uc010roc.1	+	1	88	c.85G>A	c.(85-87)GGC>AGC	p.G29S	SLC22A20_uc010rob.1_Missense_Mutation_p.G29S	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	29	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						GCTGCCCTGCGGCCTGCTGGC	0.667												
EHBP1L1	254102	broad.mit.edu	37	11	65347567	65347567	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65347567C>T	uc001oeo.3	+	5	593	c.328C>T	c.(328-330)CGG>TGG	p.R110W	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	110										central_nervous_system(1)	1						TAAGGGGCAGCGGAAGGTGCT	0.652												
SIPA1	6494	broad.mit.edu	37	11	65408583	65408583	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65408583C>T	uc001ofb.2	+	2	358	c.191C>T	c.(190-192)ACG>ATG	p.T64M	SIPA1_uc010rom.1_Missense_Mutation_p.T64M|SIPA1_uc001ofd.2_Missense_Mutation_p.T64M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	64					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						AGGCCCCCCACGCCAGCCAGC	0.736												
MUS81	80198	broad.mit.edu	37	11	65632486	65632486	+	Splice_Site	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65632486A>G	uc001ofv.3	+	13	1626	c.1273_splice	c.e13-2	p.G425_splice	MUS81_uc001ofw.3_Intron|MUS81_uc001ofx.3_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog						DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		TTCTTCCCTCAGGGCCACACC	0.642								Homologous_recombination				
BBS1	582	broad.mit.edu	37	11	66287195	66287195	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66287195C>T	uc001oij.1	+	8	711	c.699C>T	c.(697-699)CCC>CCT	p.P233P	BBS1_uc001oii.1_Silent_p.P270P|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Intron|BBS1_uc001oik.1_Silent_p.P157P|BBS1_uc001oil.1_Silent_p.P233P	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	233					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						TGCTTGACCCCGAGGCCTTCA	0.597									Bardet-Biedl_syndrome			
LRFN4	78999	broad.mit.edu	37	11	66625421	66625421	+	Missense_Mutation	SNP	G	G	A	rs143224387	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66625421G>A	uc001ojr.2	+	1	546	c.206G>A	c.(205-207)CGC>CAC	p.R69H	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R69H|LRFN4_uc001ojs.2_Missense_Mutation_p.R69H	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	69	Extracellular (Potential).|LRR 1.					integral to membrane					0						CCTGACTTCCGCAACATGACG	0.662												
PC	5091	broad.mit.edu	37	11	66638891	66638891	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66638891C>T	uc001ojn.1	-	4	431	c.382G>A	c.(382-384)GCC>ACC	p.A128T	PC_uc001ojo.1_Missense_Mutation_p.A128T|PC_uc001ojp.1_Missense_Mutation_p.A128T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	128	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCCTGGGCGAAGTCCGCT	0.632												
PC	5091	broad.mit.edu	37	11	66638919	66638919	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66638919G>A	uc001ojn.1	-	4	403	c.354C>T	c.(352-354)TAC>TAT	p.Y118Y	PC_uc001ojo.1_Silent_p.Y118Y|PC_uc001ojp.1_Silent_p.Y118Y	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	118	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGAGGAACCCGTAGCCAGGGT	0.627												
CORO1B	57175	broad.mit.edu	37	11	67207611	67207611	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:67207611C>T	uc001olj.1	-	7	1021	c.985G>A	c.(985-987)GTC>ATC	p.V329I	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.V329I|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.V329I	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	329					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACTTGCTGACCTCCAGGCCC	0.617												
XRRA1	143570	broad.mit.edu	37	11	74554923	74554923	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:74554923G>A	uc009yub.2	-	18	2433	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Missense_Mutation_p.R324W|XRRA1_uc001ovo.2_Missense_Mutation_p.R309W|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.R426W|XRRA1_uc001ovr.2_Missense_Mutation_p.R324W|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	701					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						GTAATGTTCCGGGGATCCCGC	0.552												
MYO7A	4647	broad.mit.edu	37	11	76910863	76910863	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:76910863G>A	uc001oyb.2	+	35	5124	c.4852G>A	c.(4852-4854)GCA>ACA	p.A1618T	MYO7A_uc010rsm.1_Missense_Mutation_p.A1569T|MYO7A_uc001oyc.2_Missense_Mutation_p.A1580T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.G791S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1618	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CCCCAACCCCGGTGAGTGGCT	0.453												
BIRC2	329	broad.mit.edu	37	11	102248749	102248749	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:102248749G>A	uc001pgy.2	+	9	3091	c.1692G>A	c.(1690-1692)AGG>AGA	p.R564R	BIRC2_uc010ruq.1_Silent_p.R515R|BIRC2_uc010rur.1_Silent_p.R564R	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	564					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AATTGAGGAGGTTGCAAGAAG	0.358												
MMP8	4317	broad.mit.edu	37	11	102586154	102586154	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:102586154C>A	uc001phe.2	-	7	1016	c.917G>T	c.(916-918)AGG>ATG	p.R306M	MMP8_uc010rut.1_Missense_Mutation_p.R241M|MMP8_uc010ruu.1_Missense_Mutation_p.R283M	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	306	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CTGAGGATGCCTTCTCCAGAA	0.413												
ATM	472	broad.mit.edu	37	11	108129784	108129784	+	Silent	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:108129784A>C	uc001pkb.1	+	16	2833	c.2448A>C	c.(2446-2448)GCA>GCC	p.A816A	ATM_uc009yxr.1_Silent_p.A816A	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	816					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGACATTGCAGATATTTGTA	0.244			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
TEX12	56158	broad.mit.edu	37	11	112042549	112042549	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:112042549A>T	uc001pnc.2	+	5	414	c.282A>T	c.(280-282)AAA>AAT	p.K94N	TEX12_uc001pnd.2_Missense_Mutation_p.K94N	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	testis expressed sequence 12	94											0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AACTCTTCAAAGAAGCCAATG	0.313												
NCAM1	4684	broad.mit.edu	37	11	113078710	113078710	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:113078710A>G	uc009yyq.1	+	7	1242	c.548A>G	c.(547-549)CAC>CGC	p.H183R	NCAM1_uc001pno.2_Missense_Mutation_p.H183R	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	301	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCGACCATCCACCTCAAAGTC	0.418												
CADM1	23705	broad.mit.edu	37	11	115102146	115102146	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:115102146T>G	uc001ppi.3	-	4	618	c.489A>C	c.(487-489)GAA>GAC	p.E163D	CADM1_uc001ppf.3_Missense_Mutation_p.E163D|CADM1_uc001ppk.3_Missense_Mutation_p.E163D|CADM1_uc001ppj.3_Missense_Mutation_p.E163D|CADM1_uc001ppl.2_Missense_Mutation_p.E163D	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	163	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGCAGTTGACTTCAATCTCCT	0.453												
CEP164	22897	broad.mit.edu	37	11	117261922	117261922	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:117261922G>T	uc001prc.2	+	17	2421	c.2274G>T	c.(2272-2274)GAG>GAT	p.E758D	CEP164_uc001prb.2_Missense_Mutation_p.E761D|CEP164_uc010rxk.1_Missense_Mutation_p.E732D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.E191D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	758	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGAAGGGGAGAGGAAAGAAG	0.577												
SCN2B	6327	broad.mit.edu	37	11	118039430	118039430	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:118039430G>A	uc001psf.2	-	2	298	c.107C>T	c.(106-108)GCC>GTC	p.A36V		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	36	Ig-like C2-type.|Extracellular (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GTTGAGGGTGGCAGGTACTGT	0.592												
HSPA8	3312	broad.mit.edu	37	11	122930436	122930436	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:122930436C>T	uc001pyo.2	-	5	943	c.865G>A	c.(865-867)GAA>AAA	p.E289K	HSPA8_uc009zbc.2_Missense_Mutation_p.E53K|HSPA8_uc001pyp.2_Missense_Mutation_p.E289K|HSPA8_uc010rzu.1_Missense_Mutation_p.E212K|HSPA8_uc009zbd.1_Missense_Mutation_p.E289K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	289	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCGATTCCTTCATAGAGAGAA	0.517												
SIAE	54414	broad.mit.edu	37	11	124524549	124524549	+	Splice_Site	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:124524549A>G	uc001qan.2	-	4	657	c.544_splice	c.e4+1	p.E182_splice		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor							extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCCGTCACATACCTGAGGTGG	0.468												
NTM	50863	broad.mit.edu	37	11	132204964	132204964	+	Missense_Mutation	SNP	G	G	A	rs147788695	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:132204964G>A	uc001qgp.2	+	7	1623	c.959G>A	c.(958-960)AGC>AAC	p.S320N	NTM_uc001qgm.2_Missense_Mutation_p.S320N|NTM_uc010sch.1_Missense_Mutation_p.S322N|NTM_uc010sci.1_Missense_Mutation_p.S331N|NTM_uc010scj.1_Missense_Mutation_p.S279N|NTM_uc001qgq.2_Missense_Mutation_p.S331N|NTM_uc001qgr.2_Missense_Mutation_p.S102N	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	320					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGCGAGGTGAGCAACGGCACG	0.607												
GLB1L3	112937	broad.mit.edu	37	11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:134182352G>A	uc009zdf.2	+	14	1757	c.1397G>A	c.(1396-1398)CGC>CAC	p.R466H	GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGGAGGCCGCCTCCGTGCC	0.607												
EFCAB4B	84766	broad.mit.edu	37	12	3763474	3763474	+	Missense_Mutation	SNP	C	C	A	rs145685842		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:3763474C>A	uc001qmj.2	-	10	1522	c.950G>T	c.(949-951)CGG>CTG	p.R317L	EFCAB4B_uc010sen.1_Missense_Mutation_p.R317L|EFCAB4B_uc010seo.1_Missense_Mutation_p.R317L|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	317	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTCCAGCTCCCGGGCCAGCTC	0.562												
DYRK4	8798	broad.mit.edu	37	12	4708291	4708291	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:4708291A>G	uc001qmx.2	+	7	818	c.658A>G	c.(658-660)ATG>GTG	p.M220V	DYRK4_uc009zeh.1_Missense_Mutation_p.M335V|DYRK4_uc001qmy.1_Missense_Mutation_p.M220V	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	220	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			GTGCTTGCAGATGCTTTCGGT	0.448												
KCNA6	3742	broad.mit.edu	37	12	4920472	4920472	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:4920472C>T	uc001qng.2	+	1	2131	c.1265C>T	c.(1264-1266)ACG>ATG	p.T422M		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	422	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						ACAATGACCACGGTAGGTTAC	0.592										HNSCC(72;0.22)		
CHD4	1108	broad.mit.edu	37	12	6705221	6705221	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:6705221C>T	uc001qpo.2	-	13	2139	c.1975G>A	c.(1975-1977)GTG>ATG	p.V659M	CHD4_uc001qpn.2_Missense_Mutation_p.V652M|CHD4_uc001qpp.2_Missense_Mutation_p.V656M	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	659	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGATCTCCACATCCTCACTC	0.448												
CLSTN3	9746	broad.mit.edu	37	12	7303192	7303192	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:7303192G>A	uc001qsr.2	+	15	2576	c.2298G>A	c.(2296-2298)CGG>CGA	p.R766R	CLSTN3_uc001qss.2_Silent_p.R778R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	766	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CTCGTTATCGGCTGCGACACG	0.577												
RIMKLB	57494	broad.mit.edu	37	12	8906585	8906585	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:8906585A>T	uc001quu.2	+	5	844	c.593A>T	c.(592-594)GAG>GTG	p.E198V	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E198V|RIMKLB_uc010sgl.1_Missense_Mutation_p.E198V|RIMKLB_uc001quw.2_Missense_Mutation_p.E198V	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	198	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TATGTTAAAGAGTCTCATGGA	0.478												
PZP	5858	broad.mit.edu	37	12	9318785	9318785	+	Silent	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:9318785T>G	uc001qvl.2	-	18	2150	c.2121A>C	c.(2119-2121)GTA>GTC	p.V707V	PZP_uc009zgl.2_Silent_p.V576V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.V39V	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GTCTCTCTACTACTCCTAGAC	0.373												
OLR1	4973	broad.mit.edu	37	12	10321711	10321711	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:10321711A>G	uc001qxo.1	-	2	254	c.140T>C	c.(139-141)CTG>CCG	p.L47P	OLR1_uc010sgz.1_5'Flank|OLR1_uc010sha.1_Missense_Mutation_p.L47P	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	47	Helical; Signal-anchor for type II membrane protein; (Potential).				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						TACTAATCCCAGGCAAAGGAC	0.453												
GRIN2B	2904	broad.mit.edu	37	12	13716251	13716251	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:13716251G>A	uc001rbt.2	-	13	4100	c.3921C>T	c.(3919-3921)TTC>TTT	p.F1307F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1307	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGGTCCACGAAGGTGTCGT	0.592												
PDE3A	5139	broad.mit.edu	37	12	20792849	20792849	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:20792849A>G	uc001reh.1	+	10	2231	c.2209A>G	c.(2209-2211)AAT>GAT	p.N737D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	737	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGAATTTATGAATTATTTTCA	0.279												
PPFIBP1	8496	broad.mit.edu	37	12	27829455	27829455	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27829455G>A	uc001ric.1	+	18	1933	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	PPFIBP1_uc010sjr.1_Missense_Mutation_p.R350Q|PPFIBP1_uc001rib.1_Missense_Mutation_p.R502Q|PPFIBP1_uc001ria.2_Missense_Mutation_p.R488Q|PPFIBP1_uc001rid.1_Missense_Mutation_p.R366Q|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	519					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCGGCACTCGAAAAGTCAGA	0.512												
PPFIBP1	8496	broad.mit.edu	37	12	27829478	27829478	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27829478C>G	uc001ric.1	+	18	1956	c.1579C>G	c.(1579-1581)CGG>GGG	p.R527G	PPFIBP1_uc010sjr.1_Missense_Mutation_p.R358G|PPFIBP1_uc001rib.1_Missense_Mutation_p.R510G|PPFIBP1_uc001ria.2_Missense_Mutation_p.R496G|PPFIBP1_uc001rid.1_Missense_Mutation_p.R374G|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	527					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCCTTTGGCCGGGGCTTTTT	0.502												
PTHLH	5744	broad.mit.edu	37	12	28116399	28116399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:28116399G>A	uc001rik.2	-	3	709	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	PTHLH_uc001ril.2_Nonsense_Mutation_p.Q136*|PTHLH_uc001rim.2_Nonsense_Mutation_p.Q136*|PTHLH_uc001rin.2_Nonsense_Mutation_p.Q136*	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	136					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					TTCTTTTCCTGCTCCTTGCGT	0.527												
TSPAN11	441631	broad.mit.edu	37	12	31135580	31135580	+	Silent	SNP	G	G	A	rs143482979		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:31135580G>A	uc010sju.1	+	6	950	c.570G>A	c.(568-570)GTG>GTA	p.V190V	TSPAN11_uc001rjp.2_Silent_p.V190V|TSPAN11_uc010sjv.1_Silent_p.V180V	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	190						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGTGGTGGTGCGCTGCGGCC	0.657												
ARID2	196528	broad.mit.edu	37	12	46285562	46285562	+	Splice_Site	SNP	G	G	C	rs79280775		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:46285562G>C	uc001ros.1	+	17	4923	c.4923_splice	c.e17-1	p.K1641_splice	ARID2_uc001ror.2_Splice_Site_p.K1641_splice|ARID2_uc009zkg.1_Splice_Site_p.K1097_splice|ARID2_uc009zkh.1_Splice_Site_p.K1268_splice|ARID2_uc001rou.1_Splice_Site_p.K975_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTTTTATAGGTGGTTTCAG	0.368												
ADCY6	112	broad.mit.edu	37	12	49170977	49170977	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49170977C>T	uc001rsh.3	-	5	1946	c.1286G>A	c.(1285-1287)TGT>TAT	p.C429Y	ADCY6_uc001rsj.3_Missense_Mutation_p.C429Y|ADCY6_uc001rsi.3_Missense_Mutation_p.C429Y|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	429	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						ACAGTAGTAACAGTCCCCCAA	0.567												
WNT1	7471	broad.mit.edu	37	12	49374303	49374303	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49374303C>T	uc001rsu.2	+	3	653	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	152					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		GAATCCTGCACGTGTGACTAc	0.532												
KRT72	140807	broad.mit.edu	37	12	52981443	52981443	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:52981443G>A	uc001sar.2	-	7	1368	c.1282C>T	c.(1282-1284)CGC>TGC	p.R428C	KRT72_uc001saq.2_Missense_Mutation_p.R428C|KRT72_uc010sns.1_Missense_Mutation_p.R386C|KRT72_uc010snt.1_Missense_Mutation_p.R240C	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	428	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCAGCTTGCGGTAGGTGGCG	0.612												
HOXC6	3223	broad.mit.edu	37	12	54423566	54423566	+	Silent	SNP	C	C	T	rs61736613	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:54423566C>T	uc001sev.2	+	2	640	c.528C>T	c.(526-528)AAC>AAT	p.N176N	HOXC6_uc001ses.2_Silent_p.N94N|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	176	Homeobox.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGATCGCCAACGCGCTTTGCC	0.567												
GDF11	10220	broad.mit.edu	37	12	56142639	56142639	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56142639G>A	uc001shq.2	+	2	752	c.715G>A	c.(715-717)GAC>AAC	p.D239N	GDF11_uc010spv.1_Missense_Mutation_p.D239N	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	239					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						GCAGAGCATCGACTTCAAGCA	0.612												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517												
BAZ2A	11176	broad.mit.edu	37	12	56993984	56993984	+	Splice_Site	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56993984C>T	uc001slq.1	-	24	5092	c.4898_splice	c.e24+1	p.I1633_splice	BAZ2A_uc001slp.1_Splice_Site_p.I1631_splice|BAZ2A_uc001slo.1_Splice_Site_p.I439_splice|BAZ2A_uc009zov.1_Splice_Site_p.I599_splice|BAZ2A_uc009zow.1_Splice_Site_p.I1601_splice	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						GAGTCACTCACATCTCTGTAG	0.552												
PRIM1	5557	broad.mit.edu	37	12	57127957	57127957	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57127957C>T	uc001smd.2	-	12	1281	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	406					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0						TTCTCCTTTTCGGGATTTATC	0.308												
DDIT3	1649	broad.mit.edu	37	12	57910907	57910907	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57910907C>A	uc001soi.2	-	4	375	c.195G>T	c.(193-195)GAG>GAT	p.E65D	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.E88D|DDIT3_uc009zpt.2_Missense_Mutation_p.E88D	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	65					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						CTGGCTCCTCCTCAGTCAGCC	0.512			T	FUS	liposarcoma							
KIF5A	3798	broad.mit.edu	37	12	57966494	57966494	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57966494C>T	uc001sor.1	+	15	1909	c.1701C>T	c.(1699-1701)AAC>AAT	p.N567N	KIF5A_uc010srr.1_Silent_p.N478N	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	567					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TTGTGGGCAACGGGGAGATTA	0.547												
GEFT	115557	broad.mit.edu	37	12	58006728	58006728	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:58006728C>T	uc001spb.2	+	2	573	c.113C>T	c.(112-114)GCG>GTG	p.A38V	GEFT_uc009zpy.2_Missense_Mutation_p.A77V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	38					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					TATTCCATTGCGGGCAGTGAG	0.493												
TPH2	121278	broad.mit.edu	37	12	72335393	72335393	+	Silent	SNP	C	C	T	rs74510566		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:72335393C>T	uc009zrw.1	+	2	276	c.135C>T	c.(133-135)GAC>GAT	p.D45D	TPH2_uc001swy.2_Translation_Start_Site	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	45					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.D45D(1)		ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GCAAAAATGACGACAAAGGCA	0.393												
C12orf12	196477	broad.mit.edu	37	12	91348255	91348255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:91348255C>A	uc001tbj.2	-	1	699	c.265G>T	c.(265-267)GGA>TGA	p.G89*		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	89										central_nervous_system(1)|pancreas(1)	2						CAGGGCCCTCCCCAGCACCCC	0.637												
STAB2	55576	broad.mit.edu	37	12	104031830	104031830	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:104031830A>G	uc001tjw.2	+	8	932	c.746A>G	c.(745-747)CAT>CGT	p.H249R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	249	Extracellular (Potential).|EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TGCCACCCTCATGCTCATTGT	0.507												
BTBD11	121551	broad.mit.edu	37	12	108010875	108010875	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:108010875G>C	uc001tmk.1	+	8	2532	c.2011G>C	c.(2011-2013)GAT>CAT	p.D671H	BTBD11_uc009zut.1_Missense_Mutation_p.D671H|BTBD11_uc001tmj.2_Missense_Mutation_p.D671H|BTBD11_uc001tml.1_Missense_Mutation_p.D208H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	671	ANK 2.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GCTCCTCCTGGATGCTGGGGC	0.587												
WSCD2	9671	broad.mit.edu	37	12	108600079	108600079	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:108600079C>A	uc001tms.2	+	3	1140	c.396C>A	c.(394-396)GGC>GGA	p.G132G	WSCD2_uc001tmt.2_Silent_p.G132G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	132	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGTACATCGGCTGCTACCTGG	0.512												
SSH1	54434	broad.mit.edu	37	12	109181783	109181783	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109181783G>A	uc001tnm.2	-	15	3218	c.3131C>T	c.(3130-3132)TCG>TTG	p.S1044L	SSH1_uc001tnl.2_Missense_Mutation_p.S732L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	1044	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						GCTCATCCACGAAGGGCTCTT	0.547												
MMAB	326625	broad.mit.edu	37	12	109998867	109998867	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109998867C>T	uc001tou.2	-	7	635	c.562G>A	c.(562-564)GTG>ATG	p.V188M	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.V97M|MMAB_uc001tox.2_Missense_Mutation_p.V136M	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	188					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCGGCACACGGCCCGGCAG	0.438												
C12orf51	283450	broad.mit.edu	37	12	112647918	112647918	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:112647918C>T	uc009zwc.2	-	43	6520	c.6502G>A	c.(6502-6504)GCA>ACA	p.A2168T	C12orf51_uc001ttr.1_Missense_Mutation_p.A343T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGTCAGATGCCATGGCGAAA	0.597												
C12orf51	283450	broad.mit.edu	37	12	112669482	112669482	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:112669482G>A	uc009zwc.2	-	32	4787	c.4769C>T	c.(4768-4770)GCC>GTC	p.A1590V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CCGCAGGGCGGCTGCAGCCTC	0.527												
OAS1	4938	broad.mit.edu	37	12	113354535	113354535	+	Silent	SNP	G	G	A	rs144257676	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:113354535G>A	uc001tud.2	+	4	982	c.876G>A	c.(874-876)ACG>ACA	p.T292T	OAS1_uc010syn.1_Silent_p.T291T|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Silent_p.T292T|OAS1_uc001tuc.2_Silent_p.T292T|OAS1_uc009zwf.2_Silent_p.T291T	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	292					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GGCAGCTCACGAAACCCAGGT	0.453												
TBX5	6910	broad.mit.edu	37	12	114793421	114793421	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:114793421A>G	uc001tvo.2	-	9	1968	c.1473T>C	c.(1471-1473)CAT>CAC	p.H491H	TBX5_uc001tvp.2_Silent_p.H491H|TBX5_uc001tvq.2_Silent_p.H441H	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	491					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGCACGCCATGAGAGTAGA	0.602												
SIRT4	23409	broad.mit.edu	37	12	120750797	120750797	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:120750797T>C	uc001tyc.2	+	4	923	c.903T>C	c.(901-903)AAT>AAC	p.N301N		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	301	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAAACTGAATTCTCGTTGTG	0.493												
P2RX4	5025	broad.mit.edu	37	12	121660807	121660807	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:121660807C>T	uc001tzr.2	+	5	789	c.485C>T	c.(484-486)GCG>GTG	p.A162V	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.A178V|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.A61V	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	162	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGAGGTGGCGGCCTGGTGC	0.522												
B3GNT4	79369	broad.mit.edu	37	12	122691861	122691861	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:122691861G>A	uc001ubx.2	+	3	1281	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	B3GNT4_uc001uby.2_Missense_Mutation_p.E330K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	355	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CAGCCCCCTCGAGATGTGGAC	0.627												
NCOR2	9612	broad.mit.edu	37	12	124826544	124826544	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:124826544G>A	uc010tba.1	-	34	5154	c.5037C>T	c.(5035-5037)CGC>CGT	p.R1679R	NCOR2_uc010tay.1_Silent_p.R1678R|NCOR2_uc010taz.1_Silent_p.R1662R|NCOR2_uc010tbb.1_Silent_p.R1671R|NCOR2_uc010tbc.1_Silent_p.R1661R|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1679					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGGGTAGCCGCGGATGAGGT	0.672												
AACS	65985	broad.mit.edu	37	12	125613904	125613904	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:125613904G>A	uc001uhc.2	+	14	1653	c.1447G>A	c.(1447-1449)GGC>AGC	p.G483S	AACS_uc001uhd.2_Missense_Mutation_p.G483S|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.G81S	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	483					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGGAGAGAGCGGCGAGCTGGT	0.522												
FZD10	11211	broad.mit.edu	37	12	130648101	130648101	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:130648101C>T	uc001uii.2	+	1	1070	c.614C>T	c.(613-615)GCG>GTG	p.A205V	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	205	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGAAGAGCGCGTCGTGCGCG	0.622												
PIWIL1	9271	broad.mit.edu	37	12	130856060	130856060	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:130856060G>T	uc001uik.2	+	21	2593	c.2503G>T	c.(2503-2505)GCC>TCC	p.A835S		NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	835	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGCCAGTACGCCCACAAGCT	0.453												
ULK1	8408	broad.mit.edu	37	12	132393282	132393282	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132393282G>A	uc001uje.2	+	6	678	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	137	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ATCATCCACCGCGACCTGAAA	0.602												
EP400	57634	broad.mit.edu	37	12	132549334	132549334	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132549334C>A	uc001ujn.2	+	47	8491	c.8456C>A	c.(8455-8457)CCG>CAG	p.P2819Q	EP400_uc001ujl.2_Missense_Mutation_p.P2818Q|EP400_uc001ujm.2_Missense_Mutation_p.P2738Q|EP400_uc001ujp.2_Missense_Mutation_p.P36Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2855					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGCAGCCGCCGCAGCAGCAG	0.706												
EP400	57634	broad.mit.edu	37	12	132551511	132551511	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132551511G>A	uc001ujn.2	+	48	8781	c.8746G>A	c.(8746-8748)GCA>ACA	p.A2916T	EP400_uc001ujl.2_Missense_Mutation_p.A2915T|EP400_uc001ujm.2_Missense_Mutation_p.A2835T|EP400_uc001ujp.2_Missense_Mutation_p.A126T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2952					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGAAGGCAGCAGGTGCCCG	0.667												
ZMYM2	7750	broad.mit.edu	37	13	20608469	20608469	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:20608469G>A	uc001umr.2	+	12	2342	c.2044G>A	c.(2044-2046)GAA>AAA	p.E682K	ZMYM2_uc001ums.2_Missense_Mutation_p.E682K|ZMYM2_uc001umt.2_Missense_Mutation_p.E682K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E62K|ZMYM2_uc001umw.2_Missense_Mutation_p.E135K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	682	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACATATTGCGAATACTGTCA	0.388												
TNFRSF19	55504	broad.mit.edu	37	13	24233255	24233255	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:24233255C>T	uc001uov.1	+	6	576	c.512C>T	c.(511-513)GCT>GTT	p.A171V	TNFRSF19_uc001uot.2_Missense_Mutation_p.A171V|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A39V|TNFRSF19_uc001uow.2_Missense_Mutation_p.A171V	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	171	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		ACGGCGCTGGCTGCCGTTATC	0.582												
MIPEP	4285	broad.mit.edu	37	13	24413805	24413805	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:24413805C>T	uc001uox.3	-	12	1421	c.1321G>A	c.(1321-1323)GCA>ACA	p.A441T		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	441					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GGTTTGTCTGCTCGCTGAAAA	0.348												
FLT3	2322	broad.mit.edu	37	13	28592636	28592636	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:28592636T>G	uc001urw.2	-	20	2591	c.2509A>C	c.(2509-2511)ATG>CTG	p.M837L	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	837	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.I836del(3)|p.D835_M837>VFP(2)|p.M837P(2)|p.D835_S838del(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAATCACTCATGATATCTCGA	0.443			Mis|O		AML|ALL							
SLC46A3	283537	broad.mit.edu	37	13	29287531	29287531	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:29287531C>T	uc001usi.2	-	2	1316	c.346G>A	c.(346-348)GTT>ATT	p.V116I	SLC46A3_uc001usg.2_Missense_Mutation_p.V41I|SLC46A3_uc001usj.2_Missense_Mutation_p.V116I|SLC46A3_uc001ush.2_Missense_Mutation_p.V116I|SLC46A3_uc001usk.2_Missense_Mutation_p.V41I	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	116	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGCCAAACGCTGGTTGCA	0.413												
STARD13	90627	broad.mit.edu	37	13	33703176	33703176	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:33703176C>T	uc001uuw.2	-	5	1764	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T	STARD13_uc001uuu.2_Silent_p.T538T|STARD13_uc001uuv.2_Silent_p.T428T|STARD13_uc001uux.2_Silent_p.T511T|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.T531T	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGGGTGTCGTCCGACCTT	0.483												
FREM2	341640	broad.mit.edu	37	13	39338488	39338488	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:39338488A>T	uc001uwv.2	+	3	5620	c.5311A>T	c.(5311-5313)ATC>TTC	p.I1771F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1771	Calx-beta 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGGGCATGGATCTCCTTTGA	0.343												
STOML3	161003	broad.mit.edu	37	13	39541050	39541050	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:39541050G>A	uc001uwx.2	-	7	926	c.788C>T	c.(787-789)ACG>ATG	p.T263M	STOML3_uc010tez.1_Missense_Mutation_p.T254M	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	263	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AAACACAATCGTAGAATTCTT	0.522												
ZC3H13	23091	broad.mit.edu	37	13	46542109	46542109	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:46542109C>T	uc010tfw.1	-	14	3857	c.3851G>A	c.(3850-3852)CGA>CAA	p.R1284Q	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Missense_Mutation_p.R1284Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1284	Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATGGACCTGTCGATCTGACTC	0.323												
KCNRG	283518	broad.mit.edu	37	13	50590127	50590127	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:50590127G>A	uc001vdu.2	+	1	738	c.498G>A	c.(496-498)CTG>CTA	p.L166L	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.L166L|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	166						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TACTTCCACTGCCTCCACAAA	0.453												
SLITRK5	26050	broad.mit.edu	37	13	88329509	88329509	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:88329509G>A	uc001vln.2	+	2	2085	c.1866G>A	c.(1864-1866)ACG>ACA	p.T622T	SLITRK5_uc010tic.1_Silent_p.T381T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	622	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGTTTCCACGCCCACACCCT	0.607												
MBNL2	10150	broad.mit.edu	37	13	98009823	98009823	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:98009823G>A	uc010aft.2	+	6	1708	c.892G>A	c.(892-894)GTC>ATC	p.V298I	MBNL2_uc001vmz.2_Missense_Mutation_p.V298I|MBNL2_uc001vna.2_Missense_Mutation_p.V298I|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.V143I|MBNL2_uc001vnc.2_Missense_Mutation_p.V31I	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	298					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TAACCCCAGCGTCTTGCACTA	0.532												
DOCK9	23348	broad.mit.edu	37	13	99533825	99533825	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:99533825C>A	uc001vnt.2	-	25	2790	c.2735G>T	c.(2734-2736)AGG>ATG	p.R912M	DOCK9_uc001vnw.2_Missense_Mutation_p.R911M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R912M|DOCK9_uc010tis.1_Missense_Mutation_p.R911M|DOCK9_uc010tit.1_Missense_Mutation_p.R912M|DOCK9_uc010afu.1_Missense_Mutation_p.R758M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	912					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACATATGACCTCAAGTGGCT	0.403												
NALCN	259232	broad.mit.edu	37	13	101735484	101735484	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:101735484C>T	uc001vox.1	-	32	3838	c.3649G>A	c.(3649-3651)GCA>ACA	p.A1217T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1217	Helical; Name=S1 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGAGTAATGCGATTGTCCTC	0.423												
ING1	3621	broad.mit.edu	37	13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:111372025C>T	uc001vri.2	+	2	1447	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	ING1_uc001vrf.2_Nonsense_Mutation_p.R152*|ING1_uc001vrg.2_Nonsense_Mutation_p.R127*|ING1_uc001vrh.2_Nonsense_Mutation_p.R196*	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627												
F7	2155	broad.mit.edu	37	13	113772750	113772750	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:113772750G>A	uc001vsv.2	+	9	880	c.829G>A	c.(829-831)GAC>AAC	p.D277N	F7_uc001vsw.2_Missense_Mutation_p.D255N|F7_uc010tjt.1_Missense_Mutation_p.D208N	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	277	Peptidase S1.		D -> N (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CAGCGAGCACGACGGGGATGA	0.682												
RBM23	55147	broad.mit.edu	37	14	23375437	23375437	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:23375437C>T	uc001whg.2	-	5	567	c.368G>A	c.(367-369)CGT>CAT	p.R123H	RBM23_uc001whh.2_Missense_Mutation_p.R107H|RBM23_uc001whi.2_Missense_Mutation_p.R107H|RBM23_uc010tne.1_Translation_Start_Site|RBM23_uc001whj.2_Translation_Start_Site|RBM23_uc001whk.1_Missense_Mutation_p.R123H	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	123	Arg-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GTAATGCACACGATCCTCACG	0.493												
HOMEZ	57594	broad.mit.edu	37	14	23746064	23746064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:23746064G>A	uc001wja.2	-	2	521	c.373C>T	c.(373-375)CGA>TGA	p.R125*	HOMEZ_uc001wjb.2_Nonsense_Mutation_p.R127*	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TAGACTACTCGGGCTCGAGTC	0.532												
CPNE6	9362	broad.mit.edu	37	14	24546405	24546405	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:24546405G>A	uc001wll.2	+	15	1441	c.1342G>A	c.(1342-1344)GAC>AAC	p.D448N	CPNE6_uc010tnv.1_Missense_Mutation_p.D503N|CPNE6_uc001wlm.2_Missense_Mutation_p.D273N|CPNE6_uc001wln.2_Missense_Mutation_p.D116N	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	448	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		TGTGGTGAGCGACATGGCTGA	0.597												
IPO4	79711	broad.mit.edu	37	14	24651519	24651519	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:24651519A>C	uc001wmv.1	-	25	2694	c.2563T>G	c.(2563-2565)TTT>GTT	p.F855V	IPO4_uc001wmt.1_Missense_Mutation_p.F333V|IPO4_uc001wmu.2_Missense_Mutation_p.F517V|IPO4_uc001wmx.1_Missense_Mutation_p.F719V|IPO4_uc001wmy.1_Missense_Mutation_p.F719V|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.F855V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	855					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		AAACCGGCAAAGAATGGGGCA	0.612												
GZMH	2999	broad.mit.edu	37	14	25077550	25077550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:25077550G>A	uc001wpr.1	-	2	169	c.124C>T	c.(124-126)CAA>TAA	p.Q42*	GZMH_uc010aly.1_Nonsense_Mutation_p.Q42*|GZMH_uc010alz.1_Nonsense_Mutation_p.Q42*	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	42	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CTCTTCTCTTGCAGAAACTGA	0.547												
NPAS3	64067	broad.mit.edu	37	14	33684481	33684481	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:33684481G>A	uc001wru.2	+	3	298	c.234G>A	c.(232-234)TTG>TTA	p.L78L	NPAS3_uc001wrs.2_Silent_p.L48L|NPAS3_uc001wrt.2_Silent_p.L48L|NPAS3_uc001wrv.2_Silent_p.L48L|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	78	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAAGTTGTTGCCTCTTCCTG	0.473												
MIPOL1	145282	broad.mit.edu	37	14	37969213	37969213	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:37969213T>A	uc001wuc.2	+	13	1635	c.1132T>A	c.(1132-1134)TCC>ACC	p.S378T	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S347T|MIPOL1_uc001wud.2_Missense_Mutation_p.S378T|MIPOL1_uc010ams.2_Missense_Mutation_p.S378T|MIPOL1_uc001wue.2_Missense_Mutation_p.S347T|MIPOL1_uc010amt.2_Missense_Mutation_p.S197T	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	378	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GAACATTGTTTCCATCACTCA	0.368												
LRFN5	145581	broad.mit.edu	37	14	42356114	42356114	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:42356114G>A	uc001wvm.2	+	3	1484	c.286G>A	c.(286-288)GCT>ACT	p.A96T	LRFN5_uc010ana.2_Missense_Mutation_p.A96T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	96	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCATGCTTTCGCTGACCTACG	0.348										HNSCC(30;0.082)		
LRFN5	145581	broad.mit.edu	37	14	42360855	42360855	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:42360855C>T	uc001wvm.2	+	4	2986	c.1788C>T	c.(1786-1788)CAC>CAT	p.H596H	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	596	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTGGGACACGAAGAGAATG	0.473										HNSCC(30;0.082)		
ATP5S	27109	broad.mit.edu	37	14	50789395	50789395	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:50789395G>A	uc001wxw.1	+	3	1011	c.319G>A	c.(319-321)GCC>ACC	p.A107T	ATP5S_uc001wxv.2_Missense_Mutation_p.A107T|ATP5S_uc001wxx.1_Missense_Mutation_p.A107T|ATP5S_uc010ant.1_Missense_Mutation_p.A79T	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	107					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			ovary(1)|skin(1)	2	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GGCGATCGACGCCACCGACTC	0.488												
CGRRF1	10668	broad.mit.edu	37	14	55004968	55004968	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:55004968G>A	uc001xay.2	+	6	957	c.866G>A	c.(865-867)TGC>TAC	p.C289Y	CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	289	RING-type.				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						CTCTTACCATGCAGACACACA	0.468												
GPR135	64582	broad.mit.edu	37	14	59930776	59930776	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:59930776C>T	uc010apj.2	-	1	1284	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	390	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTTGGGATTGCGGATGGCGTA	0.652												
DHRS7	51635	broad.mit.edu	37	14	60619659	60619659	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:60619659G>A	uc001xes.2	-	4	815	c.631C>T	c.(631-633)CGG>TGG	p.R211W	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.R161W|DHRS7_uc001xeu.2_Missense_Mutation_p.R211W	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	211							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGCCTTACCCGGAGAGCATGC	0.453												
DCAF5	8816	broad.mit.edu	37	14	69520750	69520750	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:69520750C>T	uc001xkp.2	-	9	2872	c.2653G>A	c.(2653-2655)GGG>AGG	p.G885R	DCAF5_uc001xkq.2_Missense_Mutation_p.G884R	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	885						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						ATTTCAGACCCGCAACAATCT	0.577												
ZFYVE1	53349	broad.mit.edu	37	14	73440842	73440842	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:73440842C>T	uc001xnm.2	-	11	2687	c.2047G>A	c.(2047-2049)GAG>AAG	p.E683K	ZFYVE1_uc001xnl.2_Missense_Mutation_p.E268K|ZFYVE1_uc010arj.2_Missense_Mutation_p.E669K	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	683						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGCACGGCCTCGCCCACCTTC	0.557												
YLPM1	56252	broad.mit.edu	37	14	75295977	75295977	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:75295977C>T	uc001xqj.3	+	19	6349	c.6225C>T	c.(6223-6225)AGC>AGT	p.S2075S	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATTGCCAGCAGAATGGAGG	0.473												
FLVCR2	55640	broad.mit.edu	37	14	76045412	76045412	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:76045412G>A	uc001xrs.2	+	1	473	c.97G>A	c.(97-99)GTC>ATC	p.V33I		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	33	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].|2.				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCATCCCAGCGTCTCGGTCCA	0.642												
NRXN3	9369	broad.mit.edu	37	14	78710050	78710050	+	RNA	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:78710050G>A	uc001xum.1	+	2		c.1407G>A						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGGTGAGCGTCCCTGTGAA	0.567												
KCNK13	56659	broad.mit.edu	37	14	90528631	90528631	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:90528631G>A	uc001xye.1	+	1	524	c.82G>A	c.(82-84)GTG>ATG	p.V28M		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	28	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CGCGCTCATCGTGCTCTACCT	0.731												
BCL11B	64919	broad.mit.edu	37	14	99641282	99641282	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:99641282C>T	uc001yga.2	-	4	2158	c.1891G>A	c.(1891-1893)GGG>AGG	p.G631R	BCL11B_uc001ygb.2_Missense_Mutation_p.G560R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	631	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cccgcgtccccgccgcccgcc	0.383			T	TLX3	T-ALL							
BCL11B	64919	broad.mit.edu	37	14	99641913	99641913	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:99641913C>T	uc001yga.2	-	4	1527	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	BCL11B_uc001ygb.2_Silent_p.P349P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	420						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGGCGGCTGCGGGGGCGGCG	0.682			T	TLX3	T-ALL							
WDR25	79446	broad.mit.edu	37	14	100992293	100992293	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:100992293C>T	uc010avx.2	+	5	1281	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	WDR25_uc001yhm.2_Silent_p.D388D|WDR25_uc001yhn.2_Silent_p.D396D|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.D139D	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	396	WD 4.										0		Melanoma(154;0.212)				GCAGCACAGACGCTTCCACCC	0.547												
C14orf73	91828	broad.mit.edu	37	14	103573763	103573763	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:103573763G>A	uc001ymk.2	+	8	1660	c.1584G>A	c.(1582-1584)CCG>CCA	p.P528P		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	528											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GTCCCCAGCCGCTCTTCAGGG	0.637												
ZFYVE21	79038	broad.mit.edu	37	14	104199060	104199060	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:104199060C>T	uc001yoc.2	+	6	664	c.630C>T	c.(628-630)GGC>GGT	p.G210G	ZFYVE21_uc001yod.2_Silent_p.G228G|ZFYVE21_uc001yoe.2_RNA	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	210						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		TGACTGTGGGCAGGAGGCAGG	0.632												
CYFIP1	23191	broad.mit.edu	37	15	22997854	22997854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:22997854C>T	uc001yus.2	+	27	3204	c.3100C>T	c.(3100-3102)CGA>TGA	p.R1034*	CYFIP1_uc001yut.2_Nonsense_Mutation_p.R1034*|CYFIP1_uc001yuu.2_Nonsense_Mutation_p.R603*|CYFIP1_uc001yuv.2_Nonsense_Mutation_p.R228*	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1034					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CATCTTGCCGCGAGTCCATGT	0.572												
NDN	4692	broad.mit.edu	37	15	23932077	23932077	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:23932077C>T	uc001ywk.2	-	1	374	c.288G>A	c.(286-288)GCG>GCA	p.A96A		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	96					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCACCAGCTGCGCCGGGGCTG	0.677									Prader-Willi_syndrome			
GABRB3	2562	broad.mit.edu	37	15	26866614	26866614	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:26866614G>T	uc001zaz.2	-	4	450	c.308C>A	c.(307-309)CCT>CAT	p.P103H	GABRB3_uc010uae.1_Missense_Mutation_p.P18H|GABRB3_uc001zba.2_Missense_Mutation_p.P103H|GABRB3_uc001zbb.2_Missense_Mutation_p.P159H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	103	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGGTTGAGAGGGATCCCAGA	0.418												
OTUD7A	161725	broad.mit.edu	37	15	31776256	31776256	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:31776256G>A	uc001zfq.2	-	11	2115	c.2022C>T	c.(2020-2022)CGC>CGT	p.R674R	OTUD7A_uc001zfr.2_Silent_p.R681R	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	674						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		tagcggcgTCGCGGCGCCGCT	0.488												
AQR	9716	broad.mit.edu	37	15	35174732	35174732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:35174732G>A	uc001ziv.2	-	27	3317	c.3136C>T	c.(3136-3138)CGA>TGA	p.R1046*		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1046						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTCATGTCGTTTTAAGGCA	0.353												
ZNF770	54989	broad.mit.edu	37	15	35273570	35273570	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:35273570G>A	uc001ziw.2	-	3	2377	c.2066C>T	c.(2065-2067)TCG>TTG	p.S689L		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTACATAACCGAATCTAAGGC	0.388												
PLA2G4D	283748	broad.mit.edu	37	15	42379564	42379564	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:42379564C>T	uc001zox.2	-	3	284	c.189G>A	c.(187-189)ACG>ACA	p.T63T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	63	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TGTCGGTGAGCGTCTTGGTCT	0.552												
CDAN1	146059	broad.mit.edu	37	15	43021535	43021535	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:43021535C>T	uc001zql.2	-	18	2550	c.2433G>A	c.(2431-2433)TCG>TCA	p.S811S	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.S137S	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	811						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGACACCCACGAAGCGAGCA	0.567												
ELL3	80237	broad.mit.edu	37	15	44066858	44066858	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44066858T>G	uc001zsw.1	-	7	1162	c.759A>C	c.(757-759)GAA>GAC	p.E253D	ELL3_uc001zsv.1_Missense_Mutation_p.E207D|ELL3_uc001zsx.1_Missense_Mutation_p.E138D|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	253					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCTCCCAATCTTCTCCCTCTT	0.473												
SPG11	80208	broad.mit.edu	37	15	44856842	44856842	+	Missense_Mutation	SNP	A	A	G	rs149711747		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44856842A>G	uc001ztx.2	-	39	7085	c.7054T>C	c.(7054-7056)TAC>CAC	p.Y2352H	SPG11_uc010bdw.2_Missense_Mutation_p.Y482H|SPG11_uc010ueh.1_Missense_Mutation_p.Y2239H|SPG11_uc010uei.1_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	2352	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTTGCTGGTATAAAATTTCA	0.378												
SORD	6652	broad.mit.edu	37	15	45364620	45364620	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:45364620T>C	uc001zul.3	+	8	1033	c.892T>C	c.(892-894)TTT>CTT	p.F298L	SORD_uc001zum.3_Missense_Mutation_p.F298L|SORD_uc010bdz.2_Missense_Mutation_p.F219L	NM_003104	NP_003095	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	298					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding				0		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	CAAGGGCGTGTTTCGATACTG	0.617												
DUOX2	50506	broad.mit.edu	37	15	45392007	45392007	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:45392007C>T	uc010bea.2	-	25	3471	c.3268G>A	c.(3268-3270)GTC>ATC	p.V1090I	DUOX2_uc001zun.2_Missense_Mutation_p.V1090I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1090	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATGAAGGAGACGCTGGCCGCC	0.577												
AP4E1	23431	broad.mit.edu	37	15	51250726	51250726	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:51250726C>T	uc001zyx.1	+	14	1616	c.1586C>T	c.(1585-1587)ACG>ATG	p.T529M		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	529					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATAAGGAAACGCCAGAGGAA	0.338												
MYO5A	4644	broad.mit.edu	37	15	52668563	52668563	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:52668563G>A	uc002aby.2	-	19	2645	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	MYO5A_uc002abx.3_Missense_Mutation_p.R801W|MYO5A_uc010uge.1_Missense_Mutation_p.R670W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	801	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGTAGCCCCGCACGTATCTC	0.562												
CGNL1	84952	broad.mit.edu	37	15	57730401	57730401	+	Silent	SNP	G	G	A	rs143019005		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:57730401G>A	uc002aeg.2	+	2	280	c.204G>A	c.(202-204)TCG>TCA	p.S68S	CGNL1_uc010bfw.2_Silent_p.S68S	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	68	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGGCACATCGTTTTCTGAAA	0.493												
SLTM	79811	broad.mit.edu	37	15	59182634	59182634	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:59182634C>T	uc002afp.2	-	15	2013	c.1925G>A	c.(1924-1926)CGT>CAT	p.R642H	SLTM_uc002afn.2_Missense_Mutation_p.R184H|SLTM_uc002afo.2_Missense_Mutation_p.R624H|SLTM_uc002afq.2_Missense_Mutation_p.R211H|SLTM_uc010bgd.2_Missense_Mutation_p.R211H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	642	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCGCTCTCGACGCTCTCTCTC	0.403												
IGDCC3	9543	broad.mit.edu	37	15	65627671	65627671	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:65627671C>T	uc002aos.2	-	4	895	c.643G>A	c.(643-645)GCC>ACC	p.A215T		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	215	Extracellular (Potential).|Ig-like C2-type 2.									ovary(3)	3						CGGATACTGGCGATGTTTGAG	0.607												
LBXCOR1	390598	broad.mit.edu	37	15	68119726	68119726	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68119726A>G	uc002aqy.1	+	3	1428	c.1428A>G	c.(1426-1428)GCA>GCG	p.A476A		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	520					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						tggcggcggcagcggcggcgg	0.507												
PIAS1	8554	broad.mit.edu	37	15	68466135	68466135	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68466135C>T	uc002aqz.2	+	9	1170	c.1074C>T	c.(1072-1074)GAC>GAT	p.D358D	PIAS1_uc002ara.2_5'Flank	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	358	SP-RING-type.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						AATGTTTTGACGCAACTCTTT	0.378												
FEM1B	10116	broad.mit.edu	37	15	68583314	68583314	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68583314G>A	uc002arg.2	+	2	2233	c.1618G>A	c.(1618-1620)GTT>ATT	p.V540I	FEM1B_uc002arh.2_Missense_Mutation_p.V460I	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	540	ANK 8.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						TCATATTATCGTTCAGTACAA	0.473												
NOX5	79400	broad.mit.edu	37	15	69329504	69329504	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:69329504G>A	uc002ars.1	+	8	1345	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	NOX5_uc002arp.1_Missense_Mutation_p.R424H|NOX5_uc002arq.1_Missense_Mutation_p.R396H|NOX5_uc010bid.1_Missense_Mutation_p.R407H|NOX5_uc002arr.1_Missense_Mutation_p.R414H|NOX5_uc010bie.1_Missense_Mutation_p.R242H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	442	FAD-binding FR-type.|Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GCAGTGTCCCGCATGGCAGCC	0.562												
PAQR5	54852	broad.mit.edu	37	15	69677138	69677138	+	Missense_Mutation	SNP	C	C	T	rs142266731	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:69677138C>T	uc002arz.2	+	5	680	c.302C>T	c.(301-303)GCG>GTG	p.A101V	PAQR5_uc002asa.2_Missense_Mutation_p.A101V	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	101	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						TCCAGCTGTGCGCACACCTTC	0.522												
ADPGK	83440	broad.mit.edu	37	15	73052857	73052857	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:73052857G>A	uc002avg.3	-	4	628	c.534C>T	c.(532-534)TGC>TGT	p.C178C	ADPGK_uc010ukw.1_Silent_p.C120C|ADPGK_uc002avf.3_Silent_p.C178C|ADPGK_uc002avi.3_Silent_p.C56C|ADPGK_uc002avh.3_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	178	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						CAACTGGACCGCAAAGAAGAA	0.502												
STOML1	9399	broad.mit.edu	37	15	74281035	74281035	+	Missense_Mutation	SNP	G	G	A	rs116083516	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:74281035G>A	uc002awe.2	-	4	570	c.499C>T	c.(499-501)CGC>TGC	p.R167C	STOML1_uc002awf.2_Missense_Mutation_p.R167C|STOML1_uc010bje.2_Missense_Mutation_p.R167C|STOML1_uc010uld.1_Missense_Mutation_p.R125C|STOML1_uc002awh.2_Missense_Mutation_p.R117C|STOML1_uc002awg.2_Missense_Mutation_p.R117C|STOML1_uc002awi.2_Missense_Mutation_p.R80C	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	167	Cytoplasmic (Potential).					integral to membrane	sterol binding			skin(1)	1						GCTGTCATGCGTGTGGCTGTG	0.597												
CSK	1445	broad.mit.edu	37	15	75091203	75091203	+	Missense_Mutation	SNP	C	C	T	rs144688425		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:75091203C>T	uc010bkb.1	+	5	349	c.166C>T	c.(166-168)CGT>TGT	p.R56C	CSK_uc010bka.2_Silent_p.A158A|CSK_uc002ays.2_Missense_Mutation_p.R56C|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	56	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CAAGGTGGGCCGTGAGGGCAT	0.632												
C15orf39	56905	broad.mit.edu	37	15	75500385	75500385	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:75500385G>A	uc002azp.3	+	2	2316	c.1996G>A	c.(1996-1998)GTG>ATG	p.V666M	C15orf39_uc002azq.3_Missense_Mutation_p.V666M|C15orf39_uc002azr.3_Missense_Mutation_p.V64M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	666											0						GCCTGCAGCCGTGGTCCCGTC	0.607												
CTSH	1512	broad.mit.edu	37	15	79220087	79220087	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:79220087C>T	uc002ben.2	-	10	728	c.631G>A	c.(631-633)GGC>AGC	p.G211S	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Missense_Mutation_p.G63S	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	223					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						TTGACAAAGCCGATGGCCTTT	0.532												
EFTUD1	79631	broad.mit.edu	37	15	82444713	82444713	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:82444713T>C	uc002bgt.1	-	18	2251	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	EFTUD1_uc002bgs.1_Silent_p.E65E|EFTUD1_uc002bgu.1_Silent_p.E643E	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	694					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TTGTGATTGTTTCTCTGAATG	0.333												
MAN2A2	4122	broad.mit.edu	37	15	91453768	91453768	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:91453768G>A	uc010bnz.2	+	11	1730	c.1615G>A	c.(1615-1617)GCT>ACT	p.A539T	MAN2A2_uc010boa.2_Missense_Mutation_p.A581T|MAN2A2_uc002bqc.2_Missense_Mutation_p.A539T|MAN2A2_uc010uql.1_Missense_Mutation_p.A201T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A118T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	539	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGCTCACGCTCGCCGCTC	0.632												
PCSK6	5046	broad.mit.edu	37	15	101938761	101938761	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:101938761C>T	uc002bwy.2	-	8	1158	c.844G>A	c.(844-846)GAT>AAT	p.D282N	PCSK6_uc010bpd.2_Missense_Mutation_p.D152N|PCSK6_uc010bpe.2_Missense_Mutation_p.D282N|PCSK6_uc002bxa.2_Missense_Mutation_p.D282N|PCSK6_uc002bxb.2_Missense_Mutation_p.D282N|PCSK6_uc002bxc.1_Missense_Mutation_p.D282N|PCSK6_uc002bxd.1_Missense_Mutation_p.D282N|PCSK6_uc002bxe.2_Missense_Mutation_p.D282N|PCSK6_uc002bxg.1_Missense_Mutation_p.D282N	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	282	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTGTGACATCGCCGTCCAGC	0.652												
SOLH	6650	broad.mit.edu	37	16	602866	602866	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:602866C>T	uc002chi.2	+	13	3271	c.2908C>T	c.(2908-2910)CGT>TGT	p.R970C	SOLH_uc002chj.2_Missense_Mutation_p.R30C	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	970					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				TGCCCAGGGCCGTGAGGGCAT	0.677												
RHBDL1	9028	broad.mit.edu	37	16	726267	726267	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:726267C>A	uc002cis.1	+	1	193	c.166C>A	c.(166-168)CCT>ACT	p.P56T	RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	56					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				TCCCAGCCAGCCTGGCCCAGC	0.677												
MSLNL	401827	broad.mit.edu	37	16	820111	820111	+	Silent	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:820111C>G	uc002cjz.1	-	15	2874	c.2874G>C	c.(2872-2874)GGG>GGC	p.G958G	MIR662_hsa-mir-662|MI0003670_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	607	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						TGCTGGGGGGCCCCCTGGTGC	0.726												
LMF1	64788	broad.mit.edu	37	16	918962	918962	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:918962G>A	uc002ckj.2	-	10	1515	c.1511C>T	c.(1510-1512)GCG>GTG	p.A504V	LMF1_uc010brg.2_RNA|LMF1_uc010brh.2_Missense_Mutation_p.A287V|LMF1_uc010bri.2_Missense_Mutation_p.A267V|LMF1_uc002ckk.2_Missense_Mutation_p.A287V	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	504	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				GGGCCTGCCCGCGAAGGGGTT	0.667												
PTX4	390667	broad.mit.edu	37	16	1537746	1537746	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:1537746G>A	uc010uvf.1	-	2	352	c.352C>T	c.(352-354)CGG>TGG	p.R118W		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	123						extracellular region	metal ion binding				0						TCCAAGGCCCGCAGCCGCGTG	0.692												
MAPK8IP3	23162	broad.mit.edu	37	16	1810419	1810419	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:1810419A>C	uc002cmk.2	+	12	1460	c.1340A>C	c.(1339-1341)AAG>ACG	p.K447T	MAPK8IP3_uc002cml.2_Missense_Mutation_p.K441T|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.K448T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	447	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CTGATTGCCAAGGTCGACCAG	0.557												
GRIN2A	2903	broad.mit.edu	37	16	10274018	10274018	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:10274018G>A	uc002czo.3	-	2	799	c.251C>T	c.(250-252)ACG>ATG	p.T84M	GRIN2A_uc010uym.1_Missense_Mutation_p.T84M|GRIN2A_uc002czr.3_Missense_Mutation_p.T84M|GRIN2A_uc010buk.2_Missense_Mutation_p.T84M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	84	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCACACGTGCGTGATGAGGCT	0.647												
MYH11	4629	broad.mit.edu	37	16	15820852	15820852	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:15820852G>A	uc002ddy.2	-	28	3818	c.3711C>T	c.(3709-3711)GCC>GCT	p.A1237A	MYH11_uc002ddv.2_Silent_p.A1244A|MYH11_uc002ddw.2_Silent_p.A1237A|MYH11_uc002ddx.2_Silent_p.A1244A|MYH11_uc010bvg.2_Silent_p.A1069A|MYH11_uc010bvh.2_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1237	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCAGCTCCCCGGCCAGGTCTG	0.602			T	CBFB	AML							
ACSM2B	348158	broad.mit.edu	37	16	20548601	20548601	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:20548601G>A	uc002dhj.3	-	15	1923	c.1713C>T	c.(1711-1713)TCC>TCT	p.S571S	ACSM2B_uc002dhk.3_Silent_p.S571S	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	571					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GGGCTTTTCCGGACATCTTCC	0.463												
DCTN5	84516	broad.mit.edu	37	16	23676952	23676952	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:23676952C>T	uc002dly.1	+	5	411	c.354C>T	c.(352-354)CGC>CGT	p.R118R		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	118						centrosome	transferase activity			upper_aerodigestive_tract(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		TTCAGGGGCGCCGATGTGTGT	0.428												
TNRC6A	27327	broad.mit.edu	37	16	24802783	24802783	+	Silent	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:24802783A>T	uc002dmm.2	+	6	2934	c.2820A>T	c.(2818-2820)CCA>CCT	p.P940P	TNRC6A_uc010bxs.2_Silent_p.P687P|TNRC6A_uc010vcc.1_Silent_p.P687P|TNRC6A_uc002dmn.2_Silent_p.P687P|TNRC6A_uc002dmo.2_Silent_p.P687P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	940	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CGTCAAAGCCAGTCAGCTCTC	0.527												
IL21R	50615	broad.mit.edu	37	16	27445682	27445682	+	Missense_Mutation	SNP	G	G	A	rs149169230		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27445682G>A	uc002doq.1	+	3	297	c.64G>A	c.(64-66)GAC>AAC	p.D22N	IL21R_uc002dor.1_Missense_Mutation_p.D22N|IL21R_uc002dos.1_Missense_Mutation_p.D22N	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	22	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GGGCTGCCCCGACCTCGTCTG	0.632			T	BCL6	NHL							
GTF3C1	2975	broad.mit.edu	37	16	27499592	27499592	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27499592C>T	uc002dov.1	-	23	3696	c.3656G>A	c.(3655-3657)CGG>CAG	p.R1219Q	GTF3C1_uc002dou.2_Missense_Mutation_p.R1219Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1219	Arg/Lys-rich (basic).					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTTCTTCAGCCGCTTCCGCTT	0.522												
KIAA0556	23247	broad.mit.edu	37	16	27761440	27761440	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27761440G>A	uc002dow.2	+	16	3183	c.3159G>A	c.(3157-3159)ACG>ACA	p.T1053T		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1053										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCCCCTTCACGCGGGGCAGAT	0.547												
LAT	27040	broad.mit.edu	37	16	28997873	28997873	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:28997873C>T	uc002dsd.2	+	6	675	c.323C>T	c.(322-324)GCG>GTG	p.A108V	uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.A144V|LAT_uc002dsb.2_Missense_Mutation_p.A108V|LAT_uc002dsc.2_Missense_Mutation_p.A107V|LAT_uc010vdk.1_Intron|LAT_uc010vdl.1_Missense_Mutation_p.A107V	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	108	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				AACAGTGTGGCGAGCTACGAG	0.632												
GDPD3	79153	broad.mit.edu	37	16	30124114	30124114	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:30124114G>A	uc002dwp.2	-	3	262	c.183C>T	c.(181-183)AAC>AAT	p.N61N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_5'UTR|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	61	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						GGGCCATGGAGCTGTGGGGGT	0.652											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF668	79759	broad.mit.edu	37	16	31075642	31075642	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31075642C>T	uc010caf.2	-	2	496	c.139G>A	c.(139-141)GCA>ACA	p.A47T	ZNF668_uc002eao.2_Missense_Mutation_p.A47T|ZNF668_uc010cag.1_Missense_Mutation_p.A47T	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GAGCAGTCTGCCGGCCCATGT	0.637												
ITGAX	3687	broad.mit.edu	37	16	31368597	31368597	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31368597C>T	uc002ebu.1	+	5	409	c.342C>T	c.(340-342)CAC>CAT	p.H114H	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.H114H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	114	FG-GAP 2.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCGTGCACCACGAGTGCGGGA	0.692												
ITGAD	3681	broad.mit.edu	37	16	31422475	31422475	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31422475G>A	uc002ebv.1	+	13	1484	c.1435G>A	c.(1435-1437)GCC>ACC	p.A479T	ITGAD_uc010cap.1_Missense_Mutation_p.A479T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	479	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CCTCATTGGGGCCCCCCATTA	0.652												
TGFB1I1	7041	broad.mit.edu	37	16	31487822	31487822	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31487822C>T	uc002ecd.1	+	9	935	c.909C>T	c.(907-909)GGC>GGT	p.G303G	TGFB1I1_uc002ece.1_Silent_p.G286G|TGFB1I1_uc010caq.1_Silent_p.G142G	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	303	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CCGCCTTGGGCACTCACTGGC	0.637												
ITFG1	81533	broad.mit.edu	37	16	47493063	47493063	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:47493063C>T	uc002eet.2	-	2	294	c.232G>A	c.(232-234)GCA>ACA	p.A78T	ITFG1_uc010vgh.1_5'UTR|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	78						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCTGGTCTGCCAAAAAGACG	0.264												
LPCAT2	54947	broad.mit.edu	37	16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	rs142090669	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:55613052C>T	uc002eie.3	+	13	1527	c.1346C>T	c.(1345-1347)ACG>ATG	p.T449M	LPCAT2_uc002eic.2_Missense_Mutation_p.T179M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	2 (Potential).|EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GGCTACATAACGGAGGAAGAG	0.433												
MMP15	4324	broad.mit.edu	37	16	58073847	58073847	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:58073847T>C	uc002ena.2	+	4	1482	c.509T>C	c.(508-510)GTG>GCG	p.V170A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	170	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						GCCTTCCGCGTGTGGGAGCAG	0.632												
EXOC3L	283849	broad.mit.edu	37	16	67221678	67221678	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:67221678C>T	uc002erx.1	-	5	731	c.490G>A	c.(490-492)GTG>ATG	p.V164M	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.V108M|EXOC3L_uc010vje.1_Missense_Mutation_p.V103M	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	164	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CGAAGGCTCACATATGCCTCC	0.602												
SMPD3	55512	broad.mit.edu	37	16	68405383	68405383	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:68405383G>A	uc002ewa.2	-	3	1124	c.702C>T	c.(700-702)GTC>GTT	p.V234V	SMPD3_uc010cfe.2_Silent_p.V234V|SMPD3_uc010vlh.1_Silent_p.V234V	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	234	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCTGCTGTCGACAGGGTCCC	0.697												
AP1G1	164	broad.mit.edu	37	16	71779166	71779166	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:71779166T>A	uc010cgg.2	-	19	2194	c.1880A>T	c.(1879-1881)GAT>GTT	p.D627V	AP1G1_uc002fba.2_Missense_Mutation_p.D630V|AP1G1_uc002fbb.2_Missense_Mutation_p.D650V|AP1G1_uc002faz.2_Missense_Mutation_p.D44V	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	627					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				ATCCAATAAATCATTGGCCTA	0.358												
CDYL2	124359	broad.mit.edu	37	16	80718950	80718950	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:80718950C>T	uc002ffs.2	-	2	206	c.101G>A	c.(100-102)AGC>AAC	p.S34N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	34	Chromo.					nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						GTCCTCGGTGCTCCCGTAGCC	0.483												
KLHL36	79786	broad.mit.edu	37	16	84690609	84690609	+	Missense_Mutation	SNP	G	G	A	rs140616787		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:84690609G>A	uc002fig.2	+	3	337	c.196G>A	c.(196-198)GTG>ATG	p.V66M	KLHL36_uc010chl.2_Missense_Mutation_p.V65M	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	66	BTB.									skin(2)	2						CCTGCTGGCCGTGTGCAGCGA	0.632												
COX4NB	10328	broad.mit.edu	37	16	85814059	85814059	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:85814059C>T	uc002fjd.2	-	4	646	c.399G>A	c.(397-399)ACG>ACA	p.T133T	COX4NB_uc010vol.1_Intron	NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	133						mitochondrion|nucleus					0						CGCAGTCCATCGTAAACTTGG	0.607												
ZCCHC14	23174	broad.mit.edu	37	16	87445497	87445497	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:87445497C>T	uc002fjz.1	-	12	2446	c.2419G>A	c.(2419-2421)GCC>ACC	p.A807T	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.A583T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	807					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AAGTAGTTGGCGTAGCTGACA	0.672												
CDH15	1013	broad.mit.edu	37	16	89257844	89257844	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:89257844G>A	uc002fmt.2	+	9	1416	c.1339G>A	c.(1339-1341)GGC>AGC	p.G447S		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	447	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTCAAGGGCGGCTGGTACAG	0.692												
ANKRD11	29123	broad.mit.edu	37	16	89341276	89341276	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:89341276G>A	uc002fmx.1	-	11	8120	c.7659C>T	c.(7657-7659)AGC>AGT	p.S2553S	ANKRD11_uc002fmy.1_Silent_p.S2553S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2553						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCGTGCAGGCGCTGAATGGCA	0.622												
RNMTL1	55178	broad.mit.edu	37	17	694859	694859	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:694859G>T	uc002frw.2	+	4	919	c.813G>T	c.(811-813)TGG>TGT	p.W271C		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	271					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ATCTGGAATGGGAAACCGTGC	0.527												
PELP1	27043	broad.mit.edu	37	17	4585839	4585839	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4585839C>A	uc002fyi.3	-	5	826	c.600G>T	c.(598-600)AAG>AAT	p.K200N	PELP1_uc010vsf.1_Missense_Mutation_p.K53N	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	200					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						TCATACAAGCCTTCATTCCTT	0.488												
PLD2	5338	broad.mit.edu	37	17	4722104	4722104	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4722104G>A	uc002fzc.2	+	21	2260	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	PLD2_uc002fzd.2_Missense_Mutation_p.R720H	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	720	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	ATCCTGCATCGCCTTAAAGCA	0.637												
POLR2A	5430	broad.mit.edu	37	17	7399624	7399624	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:7399624C>T	uc002ghf.3	+	3	556	c.322C>T	c.(322-324)CGC>TGC	p.R108C	POLR2A_uc002ghe.2_Missense_Mutation_p.R108C	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GAAAGTTTTGCGCTGTGTCTG	0.562												
CHD3	1107	broad.mit.edu	37	17	7814849	7814849	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:7814849C>T	uc002gje.2	+	40	6099	c.5949C>T	c.(5947-5949)GAC>GAT	p.D1983D	CHD3_uc002gjd.2_Silent_p.D2042D|CHD3_uc002gjf.2_Silent_p.D1949D|CHD3_uc002gjh.2_Silent_p.D560D|CHD3_uc002gjj.2_Silent_p.D146D	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1983					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				TGGTGTCAGACGGGCTGGATC	0.612												
ODF4	146852	broad.mit.edu	37	17	8243371	8243371	+	Missense_Mutation	SNP	T	T	C	rs140462392	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:8243371T>C	uc002gle.1	+	1	184	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	1					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						GTGCTCAAGATGGATGCAGAG	0.507												
MYH10	4628	broad.mit.edu	37	17	8451698	8451698	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:8451698T>C	uc002gll.2	-	10	1158	c.1062A>G	c.(1060-1062)CTA>CTG	p.L354L	MYH10_uc002glm.2_Silent_p.L364L|MYH10_uc010cnx.2_Silent_p.L363L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	354	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTCCAAACTGTAGCACTGAAG	0.294												
MYH13	8735	broad.mit.edu	37	17	10248819	10248819	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10248819C>T	uc002gmk.1	-	14	1468	c.1378G>A	c.(1378-1380)GGG>AGG	p.G460R	MYH13_uc010vvf.1_Missense_Mutation_p.G135R	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	460	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCCAAGACCCCGATGAAGTAC	0.507												
MYH2	4620	broad.mit.edu	37	17	10448726	10448726	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10448726G>A	uc010coi.2	-	5	570	c.442C>T	c.(442-444)CGC>TGC	p.R148C	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R148C|MYH2_uc010coj.2_Missense_Mutation_p.R148C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	148	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCCTCCTGGCGCTTTTTGCCT	0.537												
MYH3	4621	broad.mit.edu	37	17	10535908	10535908	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10535908C>T	uc002gmq.1	-	33	4918	c.4841G>A	c.(4840-4842)CGG>CAG	p.R1614Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1614	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CTTCTTGAGCCGGATGGCTTC	0.582												
HS3ST3A1	9955	broad.mit.edu	37	17	13400128	13400128	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:13400128T>G	uc002gob.1	-	2	1405	c.607A>C	c.(607-609)ATG>CTG	p.M203L		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	203	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTCTGGGCATCAGGTCCCTG	0.502												
NCOR1	9611	broad.mit.edu	37	17	16012111	16012111	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:16012111T>A	uc002gpo.2	-	19	2411	c.2171A>T	c.(2170-2172)GAA>GTA	p.E724V	NCOR1_uc002gpn.2_Missense_Mutation_p.E724V|NCOR1_uc002gpp.1_Missense_Mutation_p.E615V|NCOR1_uc002gpr.2_Missense_Mutation_p.E615V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	724					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCGCTGTCTTCTGGATTTTC	0.383												
MYO15A	51168	broad.mit.edu	37	17	18042911	18042911	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:18042911C>T	uc010vxh.1	+	18	5535	c.5197C>T	c.(5197-5199)CGG>TGG	p.R1733W		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1733	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGTTCGTACGGAGCCGGAC	0.642												
SMCR8	140775	broad.mit.edu	37	17	18220410	18220410	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:18220410A>C	uc002gsy.3	+	1	1817	c.1307A>C	c.(1306-1308)GAG>GCG	p.E436A		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	436										central_nervous_system(1)	1						CTGGGAGATGAGGAGTACAAG	0.453												
CYTSB	92521	broad.mit.edu	37	17	20135577	20135577	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:20135577A>T	uc002gwq.2	+	7	2355	c.2210A>T	c.(2209-2211)GAC>GTC	p.D737V	CYTSB_uc010cqx.2_Missense_Mutation_p.D737V|CYTSB_uc002gwr.2_Missense_Mutation_p.D737V|CYTSB_uc002gws.2_Missense_Mutation_p.D737V|CYTSB_uc002gwv.2_Missense_Mutation_p.D656V|CYTSB_uc010vzf.1_Missense_Mutation_p.D77V|CYTSB_uc002gww.2_Missense_Mutation_p.D513V|CYTSB_uc002gwt.2_Missense_Mutation_p.D656V|CYTSB_uc002gwu.2_Missense_Mutation_p.D656V	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	737	Potential.					nucleus					0						GTGGCCAATGACATCAAGTGT	0.592												
FOXN1	8456	broad.mit.edu	37	17	26851931	26851931	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:26851931G>T	uc010crm.2	+	3	732	c.534G>T	c.(532-534)GAG>GAT	p.E178D	FOXN1_uc002hbj.2_Missense_Mutation_p.E178D	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	178					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					TCTCAGCAGAGGCCTGGTGTA	0.642												
NUFIP2	57532	broad.mit.edu	37	17	27613259	27613259	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:27613259T>C	uc002hdy.3	-	2	1842	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	585						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCACTAGTAGTCCCAGAT	0.473												
ANKRD13B	124930	broad.mit.edu	37	17	27938981	27938981	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:27938981C>T	uc002hei.2	+	10	1170	c.1057C>T	c.(1057-1059)CGT>TGT	p.R353C	ANKRD13B_uc002heh.2_Missense_Mutation_p.R221C|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	353											0						GCTGGGCAACCGTGATATGGG	0.602												
SLFN11	91607	broad.mit.edu	37	17	33690288	33690288	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:33690288G>A	uc010ctp.2	-	4	981	c.539C>T	c.(538-540)TCG>TTG	p.S180L	SLFN11_uc010ctq.2_Missense_Mutation_p.S180L|SLFN11_uc002hjh.3_Missense_Mutation_p.S180L|SLFN11_uc002hjg.3_Missense_Mutation_p.S180L|SLFN11_uc010ctr.2_Missense_Mutation_p.S180L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	180						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGGATCCGAGTTAGGGAG	0.428												
KRT12	3859	broad.mit.edu	37	17	39020063	39020063	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:39020063G>A	uc002hvk.2	-	4	885	c.861C>T	c.(859-861)GAC>GAT	p.D287D		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	287	Rod.|Linker 12.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CGGGGGCAGCGTCCATTTCTA	0.557												
KRT23	25984	broad.mit.edu	37	17	39092801	39092801	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:39092801C>T	uc002hvm.1	-	2	644	c.55G>A	c.(55-57)GGA>AGA	p.G19R	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.G19R|KRT23_uc002hvn.1_Missense_Mutation_p.G19R	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	19	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCCACCTCCGGCGCCATGG	0.692												
MLX	6945	broad.mit.edu	37	17	40721266	40721266	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40721266G>A	uc002iag.2	+	5	548	c.483G>A	c.(481-483)CAG>CAA	p.Q161Q	MLX_uc002iaf.2_Silent_p.Q107Q|MLX_uc002iah.2_Silent_p.Q77Q	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	161					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTTGCCAGCAGCAGGACTTCT	0.512												
CNTNAP1	8506	broad.mit.edu	37	17	40839042	40839042	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40839042G>A	uc002iay.2	+	7	1238	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	341	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCGTGCGGCGCCATTCCCGG	0.597												
KIF18B	146909	broad.mit.edu	37	17	43008979	43008979	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:43008979C>T	uc010wji.1	-	11	1645	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H	KIF18B_uc002iht.2_Missense_Mutation_p.R515H|KIF18B_uc010wjh.1_Missense_Mutation_p.R503H	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CTGCTTAGAACGGTCCCCATC	0.567												
RPRML	388394	broad.mit.edu	37	17	45056238	45056238	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:45056238C>T	uc002ilb.2	-	1	377	c.136G>A	c.(136-138)GCC>ACC	p.A46T	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	reprimo-like	46						integral to membrane					0						TCGCTGGCGGCCAGCGGTGCG	0.667												
SNF8	11267	broad.mit.edu	37	17	47014454	47014454	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:47014454C>T	uc002ioj.2	-	4	335	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SNF8_uc002iok.2_Missense_Mutation_p.V93M	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	93					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding				0						AAGTCCCCCACGCCCAGCATC	0.458												
SPAG9	9043	broad.mit.edu	37	17	49098699	49098699	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:49098699C>T	uc002itc.2	-	7	1020	c.811G>A	c.(811-813)GGA>AGA	p.G271R	SPAG9_uc002itb.2_Missense_Mutation_p.G257R|SPAG9_uc002itd.2_Missense_Mutation_p.G257R|SPAG9_uc002itf.2_Missense_Mutation_p.G92R|SPAG9_uc002ita.2_Missense_Mutation_p.G114R|SPAG9_uc002ite.2_Missense_Mutation_p.G101R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	271					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTTAGATCCGCCTTGGCTA	0.348												
COIL	8161	broad.mit.edu	37	17	55019433	55019433	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:55019433G>A	uc002iuu.2	-	6	1641	c.1610C>T	c.(1609-1611)GCC>GTC	p.A537V		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	537						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					CACTACCTCGGCTCCATTTTC	0.438												
OR4D1	26689	broad.mit.edu	37	17	56233062	56233062	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:56233062A>G	uc010wno.1	+	1	548	c.548A>G	c.(547-549)CAA>CGA	p.Q183R	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GATGTTCCCCAAGTACTGAGA	0.512												
TEX14	56155	broad.mit.edu	37	17	56663303	56663303	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:56663303C>G	uc010dcz.1	-	18	3065	c.2947G>C	c.(2947-2949)GAA>CAA	p.E983Q	TEX14_uc002iwr.1_Missense_Mutation_p.E977Q|TEX14_uc002iws.1_Missense_Mutation_p.E977Q|TEX14_uc010dda.1_Missense_Mutation_p.E757Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	983						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCGTGTTTTCTGGGCTCCTA	0.517												
BRIP1	83990	broad.mit.edu	37	17	59763509	59763509	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:59763509G>A	uc002izk.1	-	19	2734	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	BRIP1_uc002izl.1_Missense_Mutation_p.R246W	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	865					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						ATCTGCTGCCGTACCCATTTA	0.348			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
ACE	1636	broad.mit.edu	37	17	61574527	61574527	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:61574527G>A	uc002jau.1	+	25	3743	c.3721G>A	c.(3721-3723)GGC>AGC	p.G1241S	ACE_uc002jav.1_Missense_Mutation_p.G667S|ACE_uc010ddv.1_Missense_Mutation_p.G468S|ACE_uc010wpj.1_Missense_Mutation_p.G626S|ACE_uc002jaw.1_Intron|ACE_uc010wpk.1_Missense_Mutation_p.G446S	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1241	Extracellular (Potential).				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCAGACAGCGGCCGCGTCAG	0.542												
LRRC37A3	374819	broad.mit.edu	37	17	62892219	62892219	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:62892219G>T	uc002jey.2	-	3	1688	c.1157C>A	c.(1156-1158)CCT>CAT	p.P386H	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	386	Extracellular (Potential).					integral to membrane					0						ATGTTCTGGAGGCTGACCTGG	0.527												
ABCA8	10351	broad.mit.edu	37	17	66925743	66925743	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:66925743T>C	uc002jhp.2	-	7	1077	c.898A>G	c.(898-900)ATG>GTG	p.M300V	ABCA8_uc002jhq.2_Missense_Mutation_p.M300V|ABCA8_uc010wqq.1_Missense_Mutation_p.M300V|ABCA8_uc010wqr.1_Missense_Mutation_p.M239V|ABCA8_uc002jhr.2_Missense_Mutation_p.M300V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	300	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					AAGACTACCATGAAGCCAGAC	0.393												
ABCA9	10350	broad.mit.edu	37	17	67041434	67041434	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:67041434T>A	uc002jhu.2	-	4	491	c.348A>T	c.(346-348)GAA>GAT	p.E116D	ABCA9_uc010dez.2_Missense_Mutation_p.E116D|ABCA9_uc002jhv.2_Missense_Mutation_p.E116D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	116					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCAAATCCAATTCATCCATGC	0.393												
SLC25A19	60386	broad.mit.edu	37	17	73274374	73274374	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:73274374T>C	uc002jns.3	-	4	1412	c.502A>G	c.(502-504)AGC>GGC	p.S168G	SLC25A19_uc010dge.2_Missense_Mutation_p.S111G|SLC25A19_uc002jnv.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnu.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnw.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnt.3_Missense_Mutation_p.S168G	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	168	Solcar 2.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGGCCTTCGCTCCTATACATG	0.552												
EVPL	2125	broad.mit.edu	37	17	74019498	74019498	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:74019498T>C	uc002jqi.2	-	4	583	c.355A>G	c.(355-357)ATC>GTC	p.I119V	EVPL_uc010wss.1_Missense_Mutation_p.I119V|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	119	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						AGCTGCTTGATGCTGTCAAGA	0.652												
CARD14	79092	broad.mit.edu	37	17	78156499	78156499	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:78156499G>A	uc002jxw.1	+	3	454	c.259G>A	c.(259-261)GCC>ACC	p.A87T	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.A87T|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	87	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGGCCATCGCCTTCCTGGA	0.587												
FASN	2194	broad.mit.edu	37	17	80049217	80049217	+	Missense_Mutation	SNP	G	G	A	rs143812680		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:80049217G>A	uc002kdu.2	-	9	1490	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	458	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGACAGCCGCGATGTCGTT	0.716												
FOXK2	3607	broad.mit.edu	37	17	80559219	80559219	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:80559219C>T	uc002kfn.2	+	9	1998	c.1827C>T	c.(1825-1827)TCC>TCT	p.S609S	FOXK2_uc010diu.2_Missense_Mutation_p.P317L|FOXK2_uc002kfo.2_RNA|FOXK2_uc002kfp.2_RNA	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	609					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACACGCATCCGCATCGGCCT	0.612												
ENOSF1	55556	broad.mit.edu	37	18	677824	677824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:677824G>A	uc002kku.3	-	13	1042	c.967C>T	c.(967-969)CAG>TAG	p.Q323*	ENOSF1_uc002kkt.3_Nonsense_Mutation_p.Q241*|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonsense_Mutation_p.Q330*|ENOSF1_uc002kkv.3_Nonsense_Mutation_p.Q310*|ENOSF1_uc002kkw.3_Nonsense_Mutation_p.Q142*|ENOSF1_uc002kkx.3_Nonsense_Mutation_p.Q247*	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	323					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						TGGAGGAACTGCAGGGCCTTC	0.468												
LAMA1	284217	broad.mit.edu	37	18	7049225	7049225	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:7049225C>T	uc002knm.2	-	5	714	c.620G>A	c.(619-621)AGC>AAC	p.S207N	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	207	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGTCAGCGCTTGGTCTGCC	0.363												
PTPRM	5797	broad.mit.edu	37	18	8370957	8370957	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:8370957A>G	uc002knn.3	+	22	3588	c.3085A>G	c.(3085-3087)ACA>GCA	p.T1029A	PTPRM_uc010dkv.2_Missense_Mutation_p.T1042A|PTPRM_uc010wzl.1_Missense_Mutation_p.T816A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1029	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCTAATAGAAACAGAACTACT	0.333												
TUBB6	84617	broad.mit.edu	37	18	12325604	12325604	+	Silent	SNP	G	G	A	rs140883153		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:12325604G>A	uc002kqw.2	+	4	861	c.816G>A	c.(814-816)CCG>CCA	p.P272P	TUBB6_uc002kqv.2_Silent_p.P200P|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.P235P|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	272					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GCTTCGCGCCGCTCACCAGCC	0.682												
TUBB6	84617	broad.mit.edu	37	18	12325851	12325851	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:12325851G>A	uc002kqw.2	+	4	1108	c.1063G>A	c.(1063-1065)GAC>AAC	p.D355N	TUBB6_uc002kqv.2_Missense_Mutation_p.D283N|TUBB6_uc002kqx.2_Missense_Mutation_p.D318N|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	355					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GGCCGTGTGCGACATCCCGCC	0.592												
ZNF519	162655	broad.mit.edu	37	18	14105730	14105730	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:14105730C>T	uc002kst.1	-	3	962	c.809G>A	c.(808-810)CGT>CAT	p.R270H	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCTTTGCCACGTTCTTTATA	0.318												
NPC1	4864	broad.mit.edu	37	18	21114441	21114441	+	Missense_Mutation	SNP	G	G	A	rs113371321		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:21114441G>A	uc002kum.3	-	23	3834	c.3560C>T	c.(3559-3561)GCG>GTG	p.A1187V	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Missense_Mutation_p.A920V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1187					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCTCTTCCGCGCGCTCCAC	0.587												
HRH4	59340	broad.mit.edu	37	18	22057071	22057071	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:22057071G>A	uc002kvi.2	+	3	818	c.718G>A	c.(718-720)GCA>ACA	p.A240T	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.A152T	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	240	Cytoplasmic (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ATCTCTTTCTGCATCGACAGA	0.443												
CHST9	83539	broad.mit.edu	37	18	24722666	24722666	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:24722666T>G	uc002kwd.2	-	1	306	c.108A>C	c.(106-108)GAA>GAC	p.E36D	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.E36D	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	36	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TATGTTGTTCTTCAATCCAGA	0.328												
C18orf34	374864	broad.mit.edu	37	18	30926291	30926291	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:30926291C>T	uc002kxn.2	-	8	684	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	C18orf34_uc010xbr.1_Missense_Mutation_p.R181Q|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.R181Q|C18orf34_uc002kxp.2_Missense_Mutation_p.R181Q	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	181	Potential.									ovary(1)	1						AGCGTCTGCCCGGTCAGTTTC	0.378												
PIGN	23556	broad.mit.edu	37	18	59806256	59806256	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:59806256C>A	uc002lii.3	-	13	1524	c.1076G>T	c.(1075-1077)AGC>ATC	p.S359I	PIGN_uc002lij.3_Missense_Mutation_p.S359I	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	359	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TGTAAACATGCTCTCTGCTTT	0.343												
RNF126	55658	broad.mit.edu	37	19	651816	651816	+	Missense_Mutation	SNP	C	C	T	rs139851549		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:651816C>T	uc010drs.2	-	4	344	c.238G>A	c.(238-240)GGA>AGA	p.G80R	RNF126_uc002lpi.2_5'UTR	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	80							protein binding|zinc ion binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAACTGTCCGTAGCCCTGC	0.687												
PTBP1	5725	broad.mit.edu	37	19	805125	805125	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:805125G>A	uc002lpr.2	+	8	936	c.830G>A	c.(829-831)CGC>CAC	p.R277H	PTBP1_uc002lpp.2_Missense_Mutation_p.R277H|PTBP1_uc002lpq.2_Missense_Mutation_p.R277H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R247H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	277					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTACACACGCCCAGACCTG	0.617												
ELANE	1991	broad.mit.edu	37	19	855752	855752	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:855752C>T	uc002lqb.2	+	4	593	c.555C>T	c.(553-555)AAC>AAT	p.N185N		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	185	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCGCAGCAACGTCTGCACTC	0.687									Kostmann_syndrome			
ABCA7	10347	broad.mit.edu	37	19	1063545	1063545	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1063545C>T	uc002lqw.3	+	43	5946	c.5715C>T	c.(5713-5715)ACC>ACT	p.T1905T	ABCA7_uc002lqy.2_Silent_p.T358T|ABCA7_uc010dsc.2_RNA|HMHA1_uc010xgd.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1905	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACAGACCGCTGGCTCGG	0.662												
APC2	10297	broad.mit.edu	37	19	1460271	1460271	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1460271C>T	uc002lsr.1	+	11	1603	c.1395C>T	c.(1393-1395)TAC>TAT	p.Y465Y	APC2_uc002lss.1_Silent_p.Y47Y|APC2_uc002lst.1_Silent_p.Y465Y|APC2_uc002lsu.1_Silent_p.Y464Y|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	465					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCCGCTACGCGGGCATGA	0.642												
PCSK4	54760	broad.mit.edu	37	19	1483747	1483747	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1483747G>A	uc002ltb.1	-	11	1355	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PCSK4_uc002lsz.2_Translation_Start_Site|PCSK4_uc002lta.2_Silent_p.Y243Y	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	431					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGTATCCGTAGT	0.557												
THOP1	7064	broad.mit.edu	37	19	2807737	2807737	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:2807737G>A	uc002lwj.2	+	8	1339	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	THOP1_uc010xgz.1_Missense_Mutation_p.R274Q|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				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)		GAGGACGTGCGGCTCTACACC	0.716												
NCLN	56926	broad.mit.edu	37	19	3207443	3207443	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3207443C>T	uc002lxi.2	+	14	1762	c.1608C>T	c.(1606-1608)CTC>CTT	p.L536L	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Silent_p.L180L	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	536	Helical; (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTACCTCGGCATGGCCT	0.672												
GIPC3	126326	broad.mit.edu	37	19	3590055	3590055	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3590055C>T	uc002lyd.3	+	6	833	c.806C>T	c.(805-807)ACG>ATG	p.T269M		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	269										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTGGAGACGTCCAAGAAG	0.652												
DAPK3	1613	broad.mit.edu	37	19	3964788	3964788	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3964788G>A	uc002lzc.1	-	2	357	c.264C>T	c.(262-264)GAC>GAT	p.D88D	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.D88D	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	88	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGACCACGTCCGTCTTGT	0.622												
UBXN6	80700	broad.mit.edu	37	19	4446914	4446914	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:4446914G>A	uc002man.1	-	7	715	c.619C>T	c.(619-621)CGC>TGC	p.R207C	UBXN6_uc010dty.1_Missense_Mutation_p.R111C|UBXN6_uc002mam.1_Missense_Mutation_p.R154C	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	207	PUB.					microtubule organizing center|nucleus	protein binding				0						CAGTTAATGCGCTCCTGGGGG	0.642												
PTPRS	5802	broad.mit.edu	37	19	5220166	5220166	+	Splice_Site	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:5220166C>A	uc002mbv.2	-	22	3784	c.3550_splice	c.e22-1	p.L1184_splice	PTPRS_uc002mbu.1_Splice_Site_p.L753_splice|PTPRS_uc010xin.1_Splice_Site_p.L753_splice|PTPRS_uc002mbw.2_Splice_Site_p.L1162_splice|PTPRS_uc002mbx.2_Splice_Site_p.L757_splice|PTPRS_uc002mby.2_Splice_Site_p.L753_splice	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCTGGATGAGCTGCGGGAACA	0.637												
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:6665011C>T	uc002mfk.1	-	5	1031	c.649G>A	c.(649-651)GTC>ATC	p.V217I	TNFSF14_uc002mfj.1_Missense_Mutation_p.V181I	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	217	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						AGCACACGGACGACCACCTTC	0.622												
GPR108	56927	broad.mit.edu	37	19	6732382	6732382	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:6732382G>A	uc002mfp.2	-	12	1063	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_Silent_p.G10G|GPR108_uc002mfo.3_Silent_p.G97G|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	339	Helical; Name=3; (Potential).					integral to membrane					0						AGAGGAGGGCGCCCTTCAGCC	0.627												
TIMM44	10469	broad.mit.edu	37	19	7999073	7999073	+	Silent	SNP	G	G	T	rs149061456	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:7999073G>T	uc002miz.2	-	5	446	c.444C>A	c.(442-444)GGC>GGA	p.G148G	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	148					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CTTCCTCCACGCCCTCCTTGA	0.632												
ELAVL1	1994	broad.mit.edu	37	19	8056648	8056648	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:8056648C>T	uc002mjb.2	-	2	219	c.52G>A	c.(52-54)GGG>AGG	p.G18R		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	18					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TTCGTTCTCCCGATGTCACCC	0.423												
OR2Z1	284383	broad.mit.edu	37	19	8841803	8841803	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:8841803G>A	uc010xkg.1	+	1	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						CTTATGAGACGCCAGGTATGT	0.557												
OLFM2	93145	broad.mit.edu	37	19	9965006	9965006	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:9965006G>A	uc002mmp.2	-	6	1249	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	OLFM2_uc002mmo.2_Silent_p.D329D	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	407	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GGAAGGGCACGTCCGTGTACT	0.562												
OLFM2	93145	broad.mit.edu	37	19	9965191	9965191	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:9965191C>T	uc002mmp.2	-	6	1064	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M	OLFM2_uc002mmo.2_Missense_Mutation_p.V268M	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	346	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						CGGCTGACCACGATGTTGCCC	0.652												
COL5A3	50509	broad.mit.edu	37	19	10087919	10087919	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:10087919C>T	uc002mmq.1	-	44	3360	c.3274G>A	c.(3274-3276)GAT>AAT	p.D1092N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1092	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TCTCCTTTATCGCCTTTACTC	0.607												
DNM2	1785	broad.mit.edu	37	19	10940910	10940910	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:10940910C>T	uc002mps.1	+	20	2563	c.2399C>T	c.(2398-2400)GCA>GTA	p.A800V	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.A800V|DNM2_uc002mpv.1_Missense_Mutation_p.A796V|DNM2_uc002mpu.1_Missense_Mutation_p.A796V|DNM2_uc010dxl.1_Missense_Mutation_p.A800V|DNM2_uc002mpw.2_Missense_Mutation_p.A529V|DNM2_uc002mpx.1_Missense_Mutation_p.A156V	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	800	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCGTGGGGGCAGCAGCCTCC	0.697												
LYL1	4066	broad.mit.edu	37	19	13211729	13211729	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:13211729G>T	uc002mwi.2	-	2	618	c.257C>A	c.(256-258)CCG>CAG	p.P86Q		NM_005583	NP_005574	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	86					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			TTGCAGCAGCGGGGGCCGCAG	0.682			T	TRB@	T-ALL							
DDX39	10212	broad.mit.edu	37	19	14521142	14521142	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14521142C>T	uc010xnp.1	-	6	663	c.618G>A	c.(616-618)ATG>ATA	p.M206I	DDX39_uc002myo.2_Missense_Mutation_p.M206I|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.M206I	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	206	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						CATCCCGCCGCATGTCTAGGT	0.632												
PKN1	5585	broad.mit.edu	37	19	14561788	14561788	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14561788C>T	uc002myp.2	+	6	1005	c.837C>T	c.(835-837)CCC>CCT	p.P279P	PKN1_uc002myq.2_Silent_p.P285P	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	279	REM 3.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						GGGAGCTGCCCGCCGACCACC	0.682												
TECR	9524	broad.mit.edu	37	19	14675085	14675085	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14675085C>T	uc002mza.2	+	7	602	c.475C>T	c.(475-477)CGC>TGC	p.R159C	TECR_uc002mzb.2_Missense_Mutation_p.R174C|TECR_uc010xns.1_Missense_Mutation_p.R4C|TECR_uc002mzc.2_Missense_Mutation_p.R4C|TECR_uc002mzd.2_Missense_Mutation_p.R159C|TECR_uc002mze.2_5'Flank|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	159					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						TATGCCTTTGCGCAACATCTT	0.343												
EMR2	30817	broad.mit.edu	37	19	14876168	14876168	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14876168T>G	uc002mzp.1	-	10	1326	c.870A>C	c.(868-870)AGA>AGC	p.R290S	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.R290S|EMR2_uc002mzo.1_Missense_Mutation_p.R290S|EMR2_uc002mzq.1_Missense_Mutation_p.R241S|EMR2_uc002mzr.1_Missense_Mutation_p.R241S|EMR2_uc002mzs.1_Missense_Mutation_p.R148S|EMR2_uc002mzt.1_Missense_Mutation_p.R197S|EMR2_uc002mzu.1_Missense_Mutation_p.R197S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	290	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GCTTGTAGTCTCTGCCCAGGT	0.597												
CALR3	125972	broad.mit.edu	37	19	16591434	16591434	+	Silent	SNP	G	G	A	rs143913852		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:16591434G>A	uc002ned.2	-	8	1065	c.1002C>T	c.(1000-1002)GGC>GGT	p.G334G	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	334	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						CCTTGGTTTCGCCCCAGGTGG	0.318												
MYO9B	4650	broad.mit.edu	37	19	17316104	17316104	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:17316104C>T	uc010eak.2	+	31	5175	c.5023C>T	c.(5023-5025)CAC>TAC	p.H1675Y	MYO9B_uc002nfi.2_Missense_Mutation_p.H1675Y|MYO9B_uc002nfj.1_Missense_Mutation_p.H1675Y|MYO9B_uc002nfl.1_Intron|MYO9B_uc002nfm.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1675	Tail.|Phorbol-ester/DAG-type.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GAAGTGCGTGCACAAGATTCA	0.587												
GLT25D1	79709	broad.mit.edu	37	19	17679366	17679366	+	Missense_Mutation	SNP	C	C	T	rs142308296		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:17679366C>T	uc002nhc.1	+	5	685	c.673C>T	c.(673-675)CGC>TGC	p.R225C	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	225					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CAAGCGAGACCGCCGGGGCTG	0.617												
KIAA0892	23383	broad.mit.edu	37	19	19453672	19453672	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:19453672A>G	uc002nmk.3	+	9	1009	c.970A>G	c.(970-972)AAG>GAG	p.K324E	KIAA0892_uc002nml.3_5'Flank|KIAA0892_uc010ecd.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	324					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						GGAGAAGCTCAAGAGTAAGTC	0.622											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CILP2	148113	broad.mit.edu	37	19	19655136	19655136	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:19655136C>T	uc002nmv.3	+	8	1867	c.1782C>T	c.(1780-1782)GCC>GCT	p.A594A	CILP2_uc002nmw.3_Silent_p.A600A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	594						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TCCGCAGAGCCGACGGCAAAC	0.672												
ZNF681	148213	broad.mit.edu	37	19	23926579	23926579	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:23926579T>G	uc002nrk.3	-	4	1915	c.1773A>C	c.(1771-1773)CAA>CAC	p.Q591H	ZNF681_uc002nrl.3_Missense_Mutation_p.Q522H|ZNF681_uc002nrj.3_Missense_Mutation_p.Q522H	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	591	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTTTCACATTGGTAGGGTT	0.383												
ATP4A	495	broad.mit.edu	37	19	36045880	36045880	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36045880C>T	uc002oal.1	-	16	2454	c.2425G>A	c.(2425-2427)GTG>ATG	p.V809M	ATP4A_uc010eee.1_Translation_Start_Site	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	809	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCAGGGGCACGCTGACGGTG	0.542												
LRFN3	79414	broad.mit.edu	37	19	36431206	36431206	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36431206C>T	uc002oco.2	+	2	1331	c.879C>T	c.(877-879)TGC>TGT	p.C293C		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	293	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTTTGTCTGCGAGCCGCCCG	0.741												
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:37440779C>T	uc002ofc.2	+	7	1239	c.724C>T	c.(724-726)CGA>TGA	p.R242*	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.R166*|ZNF568_uc010efe.2_Nonsense_Mutation_p.R166*|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378												
SIPA1L3	23094	broad.mit.edu	37	19	38655373	38655373	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38655373C>T	uc002ohk.2	+	15	4544	c.4035C>T	c.(4033-4035)GGC>GGT	p.G1345G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1345					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692												
GGN	199720	broad.mit.edu	37	19	38877282	38877282	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38877282C>T	uc002oij.1	-	3	755	c.620G>A	c.(619-621)CGC>CAC	p.R207H	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R124H	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	207	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCTGGTTGCGGGGCCCAGC	0.701												
RYR1	6261	broad.mit.edu	37	19	38951153	38951153	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38951153C>T	uc002oit.2	+	20	2629	c.2499C>T	c.(2497-2499)CCC>CCT	p.P833P	RYR1_uc002oiu.2_Silent_p.P833P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	833	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAGGGGCCCCGGGGGCCTC	0.642												
RYR1	6261	broad.mit.edu	37	19	38956958	38956958	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38956958G>A	uc002oit.2	+	24	3228	c.3098G>A	c.(3097-3099)AGC>AAC	p.S1033N	RYR1_uc002oiu.2_Missense_Mutation_p.S1033N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1033	6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCAAGCGCAGCAACCGGGAC	0.632												
FCGBP	8857	broad.mit.edu	37	19	40421158	40421158	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:40421158G>A	uc002omp.3	-	5	2771	c.2763C>T	c.(2761-2763)CGC>CGT	p.R921R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	921	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCACGGCGCGCGTGTAGC	0.711												
MAP3K10	4294	broad.mit.edu	37	19	40718777	40718777	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:40718777C>T	uc002ona.2	+	7	1906	c.1618C>T	c.(1618-1620)CGC>TGC	p.R540C	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	540					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GACATGGAGCCGCGGTGGGCC	0.542												
ARHGEF1	9138	broad.mit.edu	37	19	42406062	42406062	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:42406062C>T	uc002orx.2	+	15	1402	c.1293C>T	c.(1291-1293)CAC>CAT	p.H431H	ARHGEF1_uc002ory.2_Silent_p.H398H|ARHGEF1_uc002orz.2_Silent_p.H269H|ARHGEF1_uc002osa.2_Silent_p.H446H|ARHGEF1_uc002osb.2_Silent_p.H413H|ARHGEF1_uc002osc.2_Silent_p.H185H|ARHGEF1_uc002osd.2_Silent_p.H90H|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	431	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCGGCCCACGTGCGCATGC	0.622												
ZNF574	64763	broad.mit.edu	37	19	42583217	42583217	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:42583217C>T	uc002osm.3	+	2	628	c.459C>T	c.(457-459)CCC>CCT	p.P153P	ZNF574_uc002osk.3_Silent_p.P243P	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGGCCACACCCACCAAGGCTC	0.637												
IRGC	56269	broad.mit.edu	37	19	44223329	44223329	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:44223329G>A	uc002oxh.2	+	2	766	c.619G>A	c.(619-621)GTG>ATG	p.V207M		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	207						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				GGAGGCCGGCGTGGCTGACCC	0.711												
ZNF221	7638	broad.mit.edu	37	19	44470166	44470166	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:44470166G>A	uc002oxx.2	+	6	840	c.512G>A	c.(511-513)CGT>CAT	p.R171H	ZNF221_uc010ejb.1_Missense_Mutation_p.R171H|ZNF221_uc010xws.1_Missense_Mutation_p.R171H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	171	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				AAACCTTACCGTTGTAATGAA	0.418												
CEACAM20	125931	broad.mit.edu	37	19	45029181	45029181	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45029181G>T	uc010ejn.1	-	2	165	c.149C>A	c.(148-150)CCT>CAT	p.P50H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P50H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P50H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P50H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	50	Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				CCCAAACACAGGCAGAACAAC	0.557												
CEACAM16	388551	broad.mit.edu	37	19	45207422	45207422	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45207422G>A	uc010xxd.1	+	4	723	c.517G>A	c.(517-519)GTC>ATC	p.V173I	CEACAM16_uc002ozq.2_Missense_Mutation_p.V232I	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	173										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GGCCCTGCCCGTCGCTCTCCG	0.706												
CEACAM16	388551	broad.mit.edu	37	19	45209019	45209019	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45209019G>A	uc010xxd.1	+	5	1027	c.821G>A	c.(820-822)GGC>GAC	p.G274D	CEACAM16_uc002ozq.2_Missense_Mutation_p.G333D	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	274										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTAAAGAACGGCCAAGACCAC	0.567												
APOE	348	broad.mit.edu	37	19	45412333	45412333	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45412333G>A	uc002pab.2	+	4	863	c.780G>A	c.(778-780)AAG>AAA	p.K260K		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	260					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCGCGCCAAGCTGGAGGAGC	0.711												
NKPD1	284353	broad.mit.edu	37	19	45655517	45655517	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45655517G>A	uc010xxi.1	-	4	2178	c.2178C>T	c.(2176-2178)GGC>GGT	p.G726G		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGAAGTCGGCGCCCAGGAAGC	0.672												
RTN2	6253	broad.mit.edu	37	19	45997939	45997939	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45997939C>T	uc002pcb.2	-	3	632	c.404G>A	c.(403-405)CGC>CAC	p.R135H	RTN2_uc002pcc.2_Missense_Mutation_p.R135H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	135						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCCAGAGGGCGCTCGGATGG	0.687												
FBXO46	23403	broad.mit.edu	37	19	46216144	46216144	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:46216144C>T	uc002pcy.2	-	2	735	c.610G>A	c.(610-612)GCC>ACC	p.A204T	FBXO46_uc002pcz.2_Missense_Mutation_p.A204T	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	204							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCTTGCTCGGCGGACACAAAG	0.682												
PRKD2	25865	broad.mit.edu	37	19	47177820	47177820	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:47177820T>C	uc002pfh.2	-	19	2939	c.2597A>G	c.(2596-2598)CAC>CGC	p.H866R	PRKD2_uc002pfd.2_Missense_Mutation_p.H240R|PRKD2_uc010eks.2_Missense_Mutation_p.H269R|PRKD2_uc010ekt.2_Missense_Mutation_p.H133R|PRKD2_uc002pfe.2_Missense_Mutation_p.H396R|PRKD2_uc002pff.2_Missense_Mutation_p.H386R|PRKD2_uc002pfg.2_Missense_Mutation_p.H709R|PRKD2_uc002pfi.2_Missense_Mutation_p.H866R|PRKD2_uc002pfj.2_Missense_Mutation_p.H866R|PRKD2_uc010xye.1_Missense_Mutation_p.H876R|PRKD2_uc002pfk.2_Missense_Mutation_p.H709R	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	866					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTGCATGTCGTGGTCCTGTGG	0.652												
EHD2	30846	broad.mit.edu	37	19	48220236	48220236	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:48220236C>T	uc002phj.3	+	2	617	c.367C>T	c.(367-369)CGC>TGC	p.R123C	EHD2_uc010xyu.1_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	123					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CAAGCCCTTCCGCAAACTCAA	0.542												
FUT1	2523	broad.mit.edu	37	19	49253904	49253904	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:49253904C>T	uc002pkk.2	-	4	1610	c.635G>A	c.(634-636)CGC>CAC	p.R212H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	212	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GACAAAGGTGCGCGGGCGGTC	0.677												
FGF21	26291	broad.mit.edu	37	19	49260233	49260233	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:49260233G>A	uc002pkn.1	+	3	858	c.286G>A	c.(286-288)GTC>ATC	p.V96I	FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.V96I	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	96					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AATCTTGGGAGTCAAGACATC	0.567												
PRR12	57479	broad.mit.edu	37	19	50099902	50099902	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:50099902G>A	uc002poo.3	+	4	2310	c.2310G>A	c.(2308-2310)ACG>ACA	p.T770T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CACCTCCCACGGCCCAGTCTA	0.711												
SHANK1	50944	broad.mit.edu	37	19	51169601	51169601	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:51169601A>G	uc002psx.1	-	22	5635	c.5616T>C	c.(5614-5616)AGT>AGC	p.S1872S	SHANK1_uc002psw.1_Silent_p.S1256S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1872					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTGAGTTCACTGATGATGC	0.697												
ACPT	93650	broad.mit.edu	37	19	51296990	51296990	+	Missense_Mutation	SNP	G	G	A	rs141753566	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:51296990G>A	uc002pta.1	+	7	695	c.695G>A	c.(694-696)CGG>CAG	p.R232Q		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	232	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GATGTCCTGCGGACTCTTGCC	0.637												
SIGLEC12	89858	broad.mit.edu	37	19	52002870	52002870	+	Silent	SNP	C	C	T	rs148225737		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52002870C>T	uc002pwx.1	-	3	965	c.909G>A	c.(907-909)ACG>ACA	p.T303T	SIGLEC12_uc002pww.1_Silent_p.T185T|SIGLEC12_uc010eoy.1_Silent_p.T30T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	303	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCGTGGGGGGCGTCCCCTGTT	0.662												
FPR2	2358	broad.mit.edu	37	19	52271988	52271988	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52271988G>A	uc002pxr.2	+	2	122	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	FPR2_uc002pxs.3_Missense_Mutation_p.R26Q|FPR2_uc010epf.2_Missense_Mutation_p.R26Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	26	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						ACTGTTCTGCGGATCCTCCCA	0.532												
ZNF610	162963	broad.mit.edu	37	19	52869924	52869924	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52869924T>C	uc002pyx.3	+	6	1699	c.1293T>C	c.(1291-1293)AAT>AAC	p.N431N	ZNF610_uc002pyy.3_Silent_p.N431N|ZNF610_uc002pyz.3_Silent_p.N388N|ZNF610_uc002pza.2_Silent_p.N431N	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	431	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ACAAGTGTAATGCATGTGGCA	0.398												
NLRP12	91662	broad.mit.edu	37	19	54312988	54312988	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:54312988G>A	uc002qch.3	-	3	2145	c.1925C>T	c.(1924-1926)GCC>GTC	p.A642V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A642V|NLRP12_uc002qcj.3_Missense_Mutation_p.A642V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A642V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	642					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCTTGGAGGCAATGTTGCT	0.587												
ISOC2	79763	broad.mit.edu	37	19	55966693	55966693	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:55966693G>A	uc002qlb.2	-	4	527	c.353C>T	c.(352-354)ACG>ATG	p.T118M	ISOC2_uc002qla.2_Missense_Mutation_p.T134M|ISOC2_uc002qlc.2_Missense_Mutation_p.T48M	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	118					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCCAGGGTCGTGTTCTGTGG	0.632												
ZNF628	89887	broad.mit.edu	37	19	55995151	55995151	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:55995151C>T	uc002qld.2	+	3	3144	c.2579C>T	c.(2578-2580)ACG>ATG	p.T860M	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	860	4.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GAGGTGACCACGGTCCAGCTC	0.652												
ZNF460	10794	broad.mit.edu	37	19	57802724	57802724	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:57802724G>A	uc002qog.2	+	3	1137	c.815G>A	c.(814-816)CGG>CAG	p.R272Q	ZNF460_uc010ygv.1_Missense_Mutation_p.R231Q	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	272	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGCACCAGCGGGTTCACAGT	0.512												
ZSCAN1	284312	broad.mit.edu	37	19	58565161	58565161	+	Silent	SNP	C	C	T	rs148203449	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58565161C>T	uc002qrc.1	+	6	1216	c.969C>T	c.(967-969)CCC>CCT	p.P323P		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	323	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TTCCGTGCCCCGAGTGTGGCA	0.627												
ZNF8	7554	broad.mit.edu	37	19	58806666	58806666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58806666C>T	uc002qry.1	+	4	1622	c.1492C>T	c.(1492-1494)CGA>TGA	p.R498*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCCCATGGGCGAAGCCGGCG	0.557												
RPS5	6193	broad.mit.edu	37	19	58904472	58904472	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58904472G>A	uc002qsn.2	+	3	310	c.238G>A	c.(238-240)GGC>AGC	p.G80S	RPS5_uc002qso.2_Missense_Mutation_p.G80S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	80					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GATGATGCACGGCCGCAACAA	0.577												
ZNF132	7691	broad.mit.edu	37	19	58945448	58945448	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58945448C>T	uc002qst.3	-	3	1764	c.1363G>A	c.(1363-1365)GGA>AGA	p.G455R		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	455						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGCCGTTCTCCGGTGTGAACT	0.473												
MZF1	7593	broad.mit.edu	37	19	59082434	59082434	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:59082434C>A	uc002qto.2	-	2	884	c.323G>T	c.(322-324)CGG>CTG	p.R108L	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R108L|MZF1_uc010euu.1_Missense_Mutation_p.R149L	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	108	SCAN box.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGCCTGGCCGCTGCCCCTG	0.687												
NT5C1B	93034	broad.mit.edu	37	2	18766000	18766000	+	Missense_Mutation	SNP	C	C	T	rs150624428		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:18766000C>T	uc002rcz.2	-	5	787	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	NT5C1B_uc002rcy.2_Missense_Mutation_p.R228Q|NT5C1B_uc010exr.2_Missense_Mutation_p.R170Q|NT5C1B_uc010yju.1_Missense_Mutation_p.R168Q|NT5C1B_uc002rda.2_Missense_Mutation_p.R168Q|NT5C1B_uc010yjv.1_Missense_Mutation_p.R245Q|NT5C1B_uc010yjw.1_Missense_Mutation_p.R211Q|NT5C1B_uc010exs.2_Missense_Mutation_p.R230Q|NT5C1B_uc002rdb.1_Missense_Mutation_p.R20Q	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	228					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTGCGAGTCCCGGGTCTGGCG	0.682												
KIF3C	3797	broad.mit.edu	37	2	26204561	26204561	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:26204561C>T	uc002rgu.2	-	1	883	c.226G>A	c.(226-228)GAA>AAA	p.E76K	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E76K	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	76	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACGGTTTCGTCATACAGG	0.627												
DPYSL5	56896	broad.mit.edu	37	2	27157486	27157486	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27157486G>A	uc002rhu.3	+	8	989	c.831G>A	c.(829-831)ACG>ACA	p.T277T	DPYSL5_uc002rhv.3_Silent_p.T277T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	277					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGCCACGCTGACAGGCT	0.522												
MPV17	4358	broad.mit.edu	37	2	27535564	27535564	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27535564T>C	uc002rjr.2	-	3	309	c.262A>G	c.(262-264)AAG>GAG	p.K88E	MPV17_uc002rjq.2_Missense_Mutation_p.K88E|MPV17_uc002rjs.2_Missense_Mutation_p.K88E|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	88					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAACATCTTCTTCAGTGCA	0.522												
GTF3C2	2976	broad.mit.edu	37	2	27565017	27565017	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27565017A>G	uc002rjv.1	-	5	1016	c.653T>C	c.(652-654)GTG>GCG	p.V218A	GTF3C2_uc002rju.1_Missense_Mutation_p.V229A|GTF3C2_uc002rjw.1_Missense_Mutation_p.V218A|GTF3C2_uc010eyz.1_Missense_Mutation_p.V218A	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	218						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCTGCTCACCTTGGGGCC	0.587												
ALK	238	broad.mit.edu	37	2	29416153	29416153	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:29416153T>C	uc002rmy.2	-	29	5707	c.4800A>G	c.(4798-4800)GGA>GGG	p.G1600G	ALK_uc010ymo.1_Silent_p.G532G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1600	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATGACCAGCTCCAGGGGCAG	0.542			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
HEATR5B	54497	broad.mit.edu	37	2	37297377	37297377	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:37297377G>A	uc002rpp.1	-	7	1019	c.923C>T	c.(922-924)ACG>ATG	p.T308M		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	308							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ACAAACCTGCGTAACTCCAAC	0.299												
SLC8A1	6546	broad.mit.edu	37	2	40656208	40656208	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:40656208G>T	uc002rrx.2	-	1	1237	c.1213C>A	c.(1213-1215)CCT>ACT	p.P405T	SLC8A1_uc002rry.2_Missense_Mutation_p.P405T|SLC8A1_uc002rrz.2_Missense_Mutation_p.P405T|SLC8A1_uc002rsa.2_Missense_Mutation_p.P405T|SLC8A1_uc002rsd.3_Missense_Mutation_p.P405T|SLC8A1_uc002rsb.1_Missense_Mutation_p.P405T|SLC8A1_uc010fan.1_Missense_Mutation_p.P405T|SLC8A1_uc002rsc.1_Missense_Mutation_p.P405T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	405	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTACTAACAGGGTCATTTTCA	0.468												
MTA3	57504	broad.mit.edu	37	2	42935094	42935094	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:42935094G>A	uc002rso.1	+	14	1701	c.1031G>A	c.(1030-1032)AGA>AAA	p.R344K	MTA3_uc002rsp.1_Missense_Mutation_p.R344K|MTA3_uc002rsq.2_Missense_Mutation_p.R401K|MTA3_uc002rsr.2_Missense_Mutation_p.R400K	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	401	GATA-type; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						ATGCAGTGTAGATTATGTGCA	0.383												
ZFP36L2	678	broad.mit.edu	37	2	43452232	43452232	+	Silent	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:43452232G>C	uc002rsv.3	-	2	1002	c.711C>G	c.(709-711)GGC>GGG	p.G237G	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	237					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CATCGCGCGTGCCAAAGGCAC	0.597												
ABCG8	64241	broad.mit.edu	37	2	44078772	44078772	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:44078772C>T	uc002rtq.2	+	4	462	c.372C>T	c.(370-372)GGC>GGT	p.G124G	ABCG8_uc010yoa.1_Silent_p.G124G	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	124	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAGGTCACGGCGGCAAGATCA	0.617												
FOXN2	3344	broad.mit.edu	37	2	48602243	48602243	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:48602243C>T	uc002rwh.1	+	7	1272	c.957C>T	c.(955-957)AGC>AGT	p.S319S		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	319					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGGTCTAGCGTGTCTTCCC	0.438												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808508	48808508	+	Silent	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:48808508A>C	uc010yol.1	+	1	783	c.736A>C	c.(736-738)AGA>CGA	p.R246R	STON1_uc002rwo.3_Silent_p.R246R|STON1_uc010fbm.2_Silent_p.R246R|STON1-GTF2A1L_uc002rwp.1_Silent_p.R246R|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.R246R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	246					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACTCACTTAGAAGTTTGTC	0.433												
NRXN1	9378	broad.mit.edu	37	2	51254659	51254659	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:51254659G>A	uc010fbq.2	-	2	2230	c.753C>T	c.(751-753)CGC>CGT	p.R251R	NRXN1_uc002rxe.3_Silent_p.R251R|NRXN1_uc002rxd.1_Silent_p.R251R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCCTTGCCGCGGAAGCCGG	0.746												
PSME4	23198	broad.mit.edu	37	2	54122183	54122183	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:54122183C>T	uc002rxp.2	-	34	3929	c.3873G>A	c.(3871-3873)GAG>GAA	p.E1291E	PSME4_uc010yop.1_Silent_p.E1177E|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.E666E|PSME4_uc010fbv.1_Silent_p.E435E	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTTAGGCTGCTCTTCCACAC	0.383												
BCL11A	53335	broad.mit.edu	37	2	60688530	60688530	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:60688530G>A	uc002sae.1	-	4	1745	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	BCL11A_uc002sab.2_Missense_Mutation_p.T506M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.T175M|BCL11A_uc010ypj.1_Missense_Mutation_p.T472M|BCL11A_uc002sad.1_Missense_Mutation_p.T354M|BCL11A_uc002saf.1_Missense_Mutation_p.T472M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	506	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCGCTCTCCGTCAGctcctc	0.453			T	IGH@	B-CLL							
CEP68	23177	broad.mit.edu	37	2	65296839	65296839	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:65296839C>T	uc002sdl.3	+	2	475	c.261C>T	c.(259-261)AAC>AAT	p.N87N	CEP68_uc002sdj.2_Silent_p.N87N|CEP68_uc010yqb.1_Silent_p.N87N|CEP68_uc002sdk.3_Silent_p.N87N|CEP68_uc010yqc.1_Silent_p.N87N|CEP68_uc010yqd.1_Silent_p.N87N	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	87					centrosome organization	centrosome				skin(1)	1						GTGATGCCAACAGAGAGCCCG	0.632												
VAX2	25806	broad.mit.edu	37	2	71148374	71148374	+	Missense_Mutation	SNP	C	C	T	rs150176075		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71148374C>T	uc002shh.2	+	2	426	c.394C>T	c.(394-396)CGC>TGC	p.R132C		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	132	Homeobox.				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCCGCGAGCGCACTGAGCT	0.657												
ATP6V1B1	525	broad.mit.edu	37	2	71191897	71191897	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71191897A>C	uc002shj.2	+	13	1367	c.1280A>C	c.(1279-1281)CAG>CCG	p.Q427P	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.Q410P|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.Q385P	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	427					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						AAGGACGTGCAGGCCATGAAG	0.607											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C2orf7	84279	broad.mit.edu	37	2	73455925	73455925	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:73455925G>A	uc002siy.2	-	4	512	c.444C>T	c.(442-444)GAC>GAT	p.D148D		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	148	PA.					extracellular region					0						GCCCTCACCCGTCTCGGCCGA	0.597												
RTKN	6242	broad.mit.edu	37	2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:74653396G>A	uc002sle.2	-	12	1783	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	RTKN_uc002slc.2_Missense_Mutation_p.R543C|RTKN_uc002sld.2_Missense_Mutation_p.R506C	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	556					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						AGCCAAGTGCGAGGTTGGCCT	0.622												
TACR1	6869	broad.mit.edu	37	2	75278554	75278554	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:75278554G>A	uc002sng.2	-	4	1341	c.756C>T	c.(754-756)GTC>GTT	p.V252V	TACR1_uc002snh.2_Silent_p.V252V	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	252	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGCACACCACGACAATCATCA	0.562												
RMND5A	64795	broad.mit.edu	37	2	86993070	86993070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:86993070G>A	uc010ytm.1	+	6	1154	c.777G>A	c.(775-777)TGG>TGA	p.W259*	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Nonsense_Mutation_p.W259*	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	259										ovary(1)|skin(1)	2						CAAACCAGTGGGCTGATATCT	0.483												
FER1L5	90342	broad.mit.edu	37	2	97366180	97366180	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:97366180A>G	uc010fia.2	+	44	5123	c.5123A>G	c.(5122-5124)TAC>TGC	p.Y1708C	FER1L5_uc002sws.3_Missense_Mutation_p.Y426C|FER1L5_uc002swt.3_Missense_Mutation_p.Y426C|FER1L5_uc010yus.1_Missense_Mutation_p.Y425C	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1708						integral to membrane				ovary(1)	1						CGCACACTGTACAGCCACAGC	0.597												
FER1L5	90342	broad.mit.edu	37	2	97368480	97368480	+	Splice_Site	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:97368480T>C	uc010fia.2	+	47	5505	c.5505_splice	c.e47+2	p.K1835_splice	FER1L5_uc002sws.3_Splice_Site_p.K544_splice|FER1L5_uc002swt.3_Splice_Site_p.K544_splice|FER1L5_uc010yus.1_Splice_Site_p.K543_splice	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2							integral to membrane				ovary(1)	1						AGCCAGAAGGTAACAGGCCTG	0.622												
VWA3B	200403	broad.mit.edu	37	2	98744813	98744813	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:98744813G>A	uc002syo.2	+	6	1078	c.814G>A	c.(814-816)GCC>ACC	p.A272T	VWA3B_uc010yvh.1_Missense_Mutation_p.A122T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.A272T|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	272										ovary(3)|large_intestine(2)|skin(1)	6						GTCCTTCAACGCCAGAGGAGA	0.517												
AFF3	3899	broad.mit.edu	37	2	100170816	100170816	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:100170816G>A	uc002tag.2	-	23	3752	c.3516C>T	c.(3514-3516)TAC>TAT	p.Y1172Y	AFF3_uc002taf.2_Silent_p.Y1197Y	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1172					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCCAGTAGTCGTAGCTGTGCA	0.552												
SLC9A2	6549	broad.mit.edu	37	2	103324646	103324646	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:103324646C>T	uc002tca.2	+	12	2279	c.2137C>T	c.(2137-2139)CGC>TGC	p.R713C		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	713	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CAGAGCCAGGCGCTTCTTGCC	0.527												
POU3F3	5455	broad.mit.edu	37	2	105472918	105472918	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:105472918C>T	uc010ywg.1	+	1	950	c.950C>T	c.(949-951)CCG>CTG	p.P317L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	317	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						GAGGACACGCCGACGTCGGAC	0.627												
ST6GAL2	84620	broad.mit.edu	37	2	107459935	107459935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:107459935G>A	uc002tdq.2	-	2	618	c.499C>T	c.(499-501)CAG>TAG	p.Q167*	ST6GAL2_uc002tdr.2_Nonsense_Mutation_p.Q167*|ST6GAL2_uc002tds.3_Nonsense_Mutation_p.Q167*	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	167	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTCTGGACCTGTGCAGCCGGA	0.662												
SULT1C3	442038	broad.mit.edu	37	2	108875249	108875249	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:108875249C>T	uc010ywo.1	+	5	586	c.586C>T	c.(586-588)CGG>TGG	p.R196W		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	196						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AGACATGCACCGGATCCTCTA	0.463												
C1QL2	165257	broad.mit.edu	37	2	119915206	119915206	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:119915206C>T	uc002tlo.2	-	1	1266	c.640G>A	c.(640-642)GGC>AGC	p.G214S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	214	C1q.					collagen				pancreas(1)	1						GTGCCGTCGCCGCCGCGCATG	0.637										HNSCC(49;0.14)		
BIN1	274	broad.mit.edu	37	2	127828171	127828171	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:127828171C>A	uc002tns.1	-	4	618	c.273G>T	c.(271-273)GAG>GAT	p.E91D	BIN1_uc010yzf.1_Missense_Mutation_p.E67D|BIN1_uc010yzg.1_Missense_Mutation_p.E91D|BIN1_uc002tnu.1_Missense_Mutation_p.E91D|BIN1_uc002toa.1_Missense_Mutation_p.E91D|BIN1_uc002tnt.1_Missense_Mutation_p.E91D|BIN1_uc002tnv.1_Missense_Mutation_p.E91D|BIN1_uc002tnw.1_Missense_Mutation_p.E91D|BIN1_uc002tnx.1_Missense_Mutation_p.E91D|BIN1_uc002tny.1_Missense_Mutation_p.E91D|BIN1_uc002tnz.1_Missense_Mutation_p.E91D|BIN1_uc002tob.1_Missense_Mutation_p.E91D|BIN1_uc002toc.1_Missense_Mutation_p.E91D	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	91	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCAATCGGGCTCATACACCT	0.592												
MGAT5	4249	broad.mit.edu	37	2	135099177	135099177	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:135099177G>A	uc002ttv.1	+	7	969	c.824G>A	c.(823-825)GGA>GAA	p.G275E		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	275	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCACCTGGGACTCCTGACC	0.433												
DARS	1615	broad.mit.edu	37	2	136670055	136670055	+	Splice_Site	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:136670055C>T	uc002tux.1	-	13	1414	c.1230_splice	c.e13+1	p.P410_splice	DARS_uc010fnj.1_Splice_Site_p.P310_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AAATTACTTACGGGATTTCTT	0.299												
SPOPL	339745	broad.mit.edu	37	2	139316735	139316735	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:139316735A>G	uc002tvh.2	+	6	1024	c.624A>G	c.(622-624)GGA>GGG	p.G208G		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	208	BTB.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TCGTGAGAGGACAAGAATTTA	0.333												
BAZ2B	29994	broad.mit.edu	37	2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:160206241G>A	uc002uao.2	-	28	5193	c.4841C>T	c.(4840-4842)CCA>CTA	p.P1614L	BAZ2B_uc002uap.2_Missense_Mutation_p.P1578L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TAAAGCAAATGGATTTAAGCC	0.433												
FASTKD1	79675	broad.mit.edu	37	2	170394546	170394546	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:170394546C>T	uc002uev.3	-	11	2439	c.2051G>A	c.(2050-2052)CGC>CAC	p.R684H	FASTKD1_uc002uew.3_Intron|FASTKD1_uc002uex.3_Intron	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	684					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TTGACAGAAGCGGTCATGAAA	0.348												
HOXD10	3236	broad.mit.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:176982219G>A	uc002ukj.2	+	1	728	c.658G>A	c.(658-660)GAG>AAG	p.E220K		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	220						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622												
HOXD4	3233	broad.mit.edu	37	2	177016724	177016724	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:177016724G>A	uc002uks.2	+	1	612	c.363G>A	c.(361-363)CCG>CCA	p.P121P		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCAAGCAGCCGCCCTCCGGGA	0.488												
TTN	7273	broad.mit.edu	37	2	179470216	179470216	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:179470216G>A	uc010zfg.1	-	228	46326	c.46102C>T	c.(46102-46104)CGT>TGT	p.R15368C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9063C|TTN_uc010zfi.1_Missense_Mutation_p.R8996C|TTN_uc010zfj.1_Missense_Mutation_p.R8871C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16295							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTGACACGGAACTCATAC	0.388												
TTN	7273	broad.mit.edu	37	2	179482697	179482697	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:179482697A>G	uc010zfg.1	-	202	39901	c.39677T>C	c.(39676-39678)GTC>GCC	p.V13226A	TTN_uc010zfh.1_Missense_Mutation_p.V6921A|TTN_uc010zfi.1_Missense_Mutation_p.V6854A|TTN_uc010zfj.1_Missense_Mutation_p.V6729A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14153							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTCAATGACGTAGTTTGT	0.453												
GLS	2744	broad.mit.edu	37	2	191818296	191818296	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:191818296G>T	uc002usf.2	+	15	1920	c.1656G>T	c.(1654-1656)AAG>AAT	p.K552N	GLS_uc002ush.2_Missense_Mutation_p.K213N|GLS_uc010zgi.1_Missense_Mutation_p.K123N|GLS_uc010zgj.1_Missense_Mutation_p.K57N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	552					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAGGTAAAGTCAGTGATAA	0.388												
GTF3C3	9330	broad.mit.edu	37	2	197657712	197657712	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:197657712C>T	uc002uts.2	-	3	469	c.379G>A	c.(379-381)GTT>ATT	p.V127I	GTF3C3_uc010zgu.1_Missense_Mutation_p.V127I|GTF3C3_uc002utu.2_Missense_Mutation_p.V127I	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	127						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CGATTGAGAACCATCTCCAAT	0.264												
HSPD1	3329	broad.mit.edu	37	2	198353798	198353798	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:198353798T>C	uc002uui.2	-	9	1280	c.1143A>G	c.(1141-1143)ACA>ACG	p.T381T	HSPD1_uc002uuj.2_Silent_p.T379T|HSPD1_uc010zgx.1_Silent_p.T372T|HSPD1_uc010fsm.2_Silent_p.T192T|HSPD1_uc002uuk.2_Silent_p.T381T	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	381					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ATTCACTAGTTGTGACATCTA	0.363												
NDUFB3	4709	broad.mit.edu	37	2	201943745	201943745	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:201943745G>A	uc002uwx.3	+	2	463	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	47					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CCATGGGGCCGGTAAGATGAA	0.383												
NOP58	51602	broad.mit.edu	37	2	203157521	203157521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:203157521C>T	uc002uzb.2	+	9	952	c.802C>T	c.(802-804)CGA>TGA	p.R268*	SNORD11_uc002uzd.1_5'Flank	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	268	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						CTCTGAATATCGAACCCAGCT	0.373												
FZD5	7855	broad.mit.edu	37	2	208631779	208631779	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:208631779G>A	uc002vcj.2	-	2	2095	c.1685C>T	c.(1684-1686)GCG>GTG	p.A562V		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	562	Cytoplasmic (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCCTGTGAGCGCGGCGCTCGC	0.652												
FZD5	7855	broad.mit.edu	37	2	208633129	208633129	+	Missense_Mutation	SNP	G	G	T	rs148031109		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:208633129G>T	uc002vcj.2	-	2	745	c.335C>A	c.(334-336)GCC>GAC	p.A112D		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	112	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCCGGCCTTGGCGCGCTCGCA	0.706												
PTH2R	5746	broad.mit.edu	37	2	209307125	209307125	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AATGTATACCGTTGGCTACTC	0.418												
ABCA12	26154	broad.mit.edu	37	2	215884358	215884358	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:215884358C>T	uc002vew.2	-	12	1670	c.1450G>A	c.(1450-1452)GCA>ACA	p.A484T	ABCA12_uc002vev.2_Missense_Mutation_p.A166T|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	484					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGCTGGCTGCTATTTCGGTG	0.433												
MREG	55686	broad.mit.edu	37	2	216811832	216811832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:216811832C>T	uc002vfo.2	-	3	556	c.260G>A	c.(259-261)TGG>TAG	p.W87*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	87						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GAGCTTCTGCCACTCCTGCAG	0.403												
ABCB6	10058	broad.mit.edu	37	2	220075526	220075526	+	Silent	SNP	G	G	A	rs145427690		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220075526G>A	uc002vkc.1	-	16	2440	c.2163C>T	c.(2161-2163)GGC>GGT	p.G721G	ABCB6_uc010fwe.1_Silent_p.G675G	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	721	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCCCGCTCGCCCACCTGTG	0.617												
GMPPA	29926	broad.mit.edu	37	2	220371039	220371039	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220371039G>A	uc002vlr.2	+	12	1125	c.1057G>A	c.(1057-1059)GTG>ATG	p.V353M	GMPPA_uc002vls.2_Missense_Mutation_p.V353M|GMPPA_uc002vlt.2_Missense_Mutation_p.V406M|GMPPA_uc002vlu.2_Missense_Mutation_p.V406M|GMPPA_uc002vlv.2_Missense_Mutation_p.V353M|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.V353M	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	353					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTGGGCCCGCGTGGAGGGTAC	0.622												
EPHA4	2043	broad.mit.edu	37	2	222429021	222429021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:222429021G>A	uc002vmq.2	-	3	295	c.253C>T	c.(253-255)CGA>TGA	p.R85*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R85*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R26*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R85*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	85	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAATCAGTTCGTAGCCAGTTA	0.473												
KIAA1486	57624	broad.mit.edu	37	2	226447216	226447216	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:226447216G>A	uc002voe.2	+	4	1258	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.T131T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	361	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGGAGGTCACGAAGCTTCCCG	0.642												
B3GNT7	93010	broad.mit.edu	37	2	232263333	232263333	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:232263333T>C	uc002vrs.2	+	2	1083	c.903T>C	c.(901-903)GGT>GGC	p.G301G		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	301	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CAGGCGGCGGTGGCTTCCTCA	0.652												
ECEL1	9427	broad.mit.edu	37	2	233346258	233346258	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:233346258G>A	uc002vsv.2	-	14	2152	c.1947C>T	c.(1945-1947)TGC>TGT	p.C649C	ECEL1_uc010fya.1_Silent_p.C647C|ECEL1_uc010fyb.1_Silent_p.C356C	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	649	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GACGGACGATGCACTCAGCCT	0.652												
TRPM8	79054	broad.mit.edu	37	2	234875353	234875353	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:234875353C>T	uc002vvh.2	+	15	2019	c.1979C>T	c.(1978-1980)GCG>GTG	p.A660V	TRPM8_uc010fyj.2_Missense_Mutation_p.A348V	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	660	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGCTGGCGGTGGAGGCC	0.552												
COL6A3	1293	broad.mit.edu	37	2	238277427	238277427	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:238277427G>T	uc002vwl.2	-	10	4964	c.4679C>A	c.(4678-4680)GCC>GAC	p.A1560D	COL6A3_uc002vwo.2_Missense_Mutation_p.A1354D|COL6A3_uc010znj.1_Missense_Mutation_p.A953D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1560	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATCACCTGGGCGAACCTGGA	0.572												
ILKAP	80895	broad.mit.edu	37	2	239079299	239079299	+	Missense_Mutation	SNP	G	G	A	rs142248095		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:239079299G>A	uc002vxv.2	-	12	1187	c.1057C>T	c.(1057-1059)CGG>TGG	p.R353W	ILKAP_uc010zns.1_Missense_Mutation_p.R285W|ILKAP_uc002vxw.2_Missense_Mutation_p.R233W	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	353	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTCCCTTCCCGGGTCTGGATC	0.587												
KIF1A	547	broad.mit.edu	37	2	241697895	241697895	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:241697895G>A	uc002vzy.2	-	25	2583	c.2437C>T	c.(2437-2439)CGG>TGG	p.R813W	KIF1A_uc010fzk.2_Missense_Mutation_p.R822W|KIF1A_uc002vzz.1_Missense_Mutation_p.R822W	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	813	Potential.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACATCTCCCGCATCAGGTCC	0.647												
SNED1	25992	broad.mit.edu	37	2	242002305	242002305	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:242002305C>T	uc002wah.1	+	17	2355	c.2355C>T	c.(2353-2355)GGC>GGT	p.G785G	SNED1_uc002wai.1_5'Flank|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	785	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTATGAGGGCGCCCACTGTG	0.657												
RBCK1	10616	broad.mit.edu	37	20	408048	408048	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:408048C>A	uc002wdp.3	+	9	1814	c.1121C>A	c.(1120-1122)CCA>CAA	p.P374Q	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.P332Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.P204Q	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	374	IBR-type 1.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGCAAGACCCCAGATTGCAAG	0.537												
CD93	22918	broad.mit.edu	37	20	23066072	23066072	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23066072G>A	uc002wsv.2	-	1	906	c.758C>T	c.(757-759)TCG>TTG	p.S253L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	253	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGGGGGCCCGAGCTGCCCCA	0.602												
GZF1	64412	broad.mit.edu	37	20	23350249	23350249	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23350249C>T	uc010gdb.2	+	6	1830	c.1656C>T	c.(1654-1656)TGC>TGT	p.C552C	GZF1_uc002wsy.2_Silent_p.C552C|GZF1_uc010zsq.1_Silent_p.C76C|GZF1_uc010zsr.1_Silent_p.C61C|GZF1_uc002wsz.2_Silent_p.C552C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	552	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTGACCAGTGCGGCAAGCAGT	0.602												
CST5	1473	broad.mit.edu	37	20	23858244	23858244	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23858244C>A	uc002wtr.1	-	2	310	c.243G>T	c.(241-243)GGG>GGT	p.G81G		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	81						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						AGTAGTTCACCCCACCCACGA	0.532												
TMEM90B	79953	broad.mit.edu	37	20	24524045	24524045	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:24524045C>T	uc002wtw.1	+	2	945	c.312C>T	c.(310-312)GAC>GAT	p.D104D		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	104	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CCTGGGGGGACGGTGTGGCCG	0.632												
ACSS1	84532	broad.mit.edu	37	20	25011536	25011536	+	Missense_Mutation	SNP	G	G	A	rs112767555		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:25011536G>A	uc002wub.2	-	3	1368	c.490C>T	c.(490-492)CGT>TGT	p.R164C	ACSS1_uc002wuc.2_Missense_Mutation_p.R164C|ACSS1_uc010gdc.2_Missense_Mutation_p.R164C|ACSS1_uc002wua.2_Missense_Mutation_p.R81C	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	164					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTCCCCACGGTGGACTCCA	0.602												
ZNF341	84905	broad.mit.edu	37	20	32354681	32354681	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:32354681C>T	uc002wzy.2	+	9	1267	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	ZNF341_uc002wzx.2_Missense_Mutation_p.A409V|ZNF341_uc010geq.2_Missense_Mutation_p.A326V|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTGCCGGGTGCGCCACAGCCC	0.632												
KIAA0406	9675	broad.mit.edu	37	20	36641193	36641193	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:36641193A>G	uc002xhl.2	-	3	1235	c.1026T>C	c.(1024-1026)GAT>GAC	p.D342D	KIAA0406_uc002xhm.2_Silent_p.D342D	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	342							binding				0		Myeloproliferative disorder(115;0.00874)				CAGGACTCTCATCATTTACTA	0.458												
DHX35	60625	broad.mit.edu	37	20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:37634810G>A	uc002xjh.2	+	12	1044	c.1033G>A	c.(1033-1035)GCA>ACA	p.A345T	DHX35_uc010zwa.1_Missense_Mutation_p.A190T|DHX35_uc010zwb.1_Missense_Mutation_p.A190T|DHX35_uc010zwc.1_Missense_Mutation_p.A314T	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408												
ZHX3	23051	broad.mit.edu	37	20	39831389	39831389	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39831389C>T	uc002xjs.1	-	3	2546	c.2168G>A	c.(2167-2169)AGC>AAC	p.S723N	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.S723N|ZHX3_uc002xjt.1_Missense_Mutation_p.S723N|ZHX3_uc002xju.1_Missense_Mutation_p.S723N|ZHX3_uc002xjv.1_Missense_Mutation_p.S723N|ZHX3_uc002xjw.1_Missense_Mutation_p.S723N|ZHX3_uc010ggg.1_Missense_Mutation_p.S723N	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	723					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTTAATGGGGCTGACTTTGCG	0.532												
LPIN3	64900	broad.mit.edu	37	20	39980542	39980542	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39980542C>T	uc002xjx.2	+	8	1275	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	LPIN3_uc010ggh.2_Missense_Mutation_p.A396V|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	395					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597												
EMILIN3	90187	broad.mit.edu	37	20	39989982	39989982	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39989982C>G	uc002xjy.1	-	4	2451	c.2227G>C	c.(2227-2229)GCC>CCC	p.A743P		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	743	Potential.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CGGAGGCGGGCAATGTCCTGC	0.657												
JPH2	57158	broad.mit.edu	37	20	42789012	42789012	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:42789012G>T	uc002xli.1	-	2	1288	c.415C>A	c.(415-417)CAT>AAT	p.H139N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	139	Gly-rich.|Cytoplasmic (Potential).|MORN 6.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGTAGCCATGGCGCATGCCG	0.701												
GDAP1L1	78997	broad.mit.edu	37	20	42907672	42907672	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:42907672G>A	uc002xlq.2	+	6	903	c.836G>A	c.(835-837)CGC>CAC	p.R279H	GDAP1L1_uc010zwl.1_Missense_Mutation_p.R298H|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R221H|GDAP1L1_uc010zwn.1_Missense_Mutation_p.R87H	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	279	GST C-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCTGCACCGCCTCAAGTTC	0.587												
RIMS4	140730	broad.mit.edu	37	20	43386791	43386791	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43386791C>T	uc002xms.2	-	3	271	c.271G>A	c.(271-273)GCC>ACC	p.A91T	RIMS4_uc010ggu.2_Missense_Mutation_p.A92T	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	91					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CTGAACTGGGCGTCCGACGCC	0.572												
SEMG2	6407	broad.mit.edu	37	20	43850595	43850595	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43850595A>C	uc010ggz.2	+	2	379	c.322A>C	c.(322-324)AAT>CAT	p.N108H	SEMG2_uc002xnk.2_Missense_Mutation_p.N108H|SEMG2_uc002xnl.2_Missense_Mutation_p.N108H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	108	Repeat-rich region.|3-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACAACTGCTCAATTATAAACA	0.383												
SEMG2	6407	broad.mit.edu	37	20	43850598	43850598	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43850598T>A	uc010ggz.2	+	2	382	c.325T>A	c.(325-327)TAT>AAT	p.Y109N	SEMG2_uc002xnk.2_Missense_Mutation_p.Y109N|SEMG2_uc002xnl.2_Missense_Mutation_p.Y109N	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	109	Repeat-rich region.|3-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACTGCTCAATTATAAACAAGA	0.388												
SDC4	6385	broad.mit.edu	37	20	43964515	43964515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43964515G>A	uc002xnu.2	-	2	146	c.106C>T	c.(106-108)CGA>TGA	p.R36*	SDC4_uc010zws.1_Intron	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	36	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				GAGAAGTATCGGCCTTCTAGG	0.552												
PCIF1	63935	broad.mit.edu	37	20	44569201	44569201	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:44569201C>T	uc002xqs.2	+	5	651	c.337C>T	c.(337-339)CGG>TGG	p.R113W		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	113	Nuclear localization signal (Potential).					nucleus				skin(1)	1						GCCCAGAAAGCGGCAGCTCTC	0.642												
SPATA2	9825	broad.mit.edu	37	20	48522841	48522841	+	Missense_Mutation	SNP	C	C	T	rs143910300	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:48522841C>T	uc010gie.2	-	3	1228	c.878G>A	c.(877-879)CGC>CAC	p.R293H	SPATA2_uc002xuw.2_Missense_Mutation_p.R293H|SPATA2_uc010zyn.1_Missense_Mutation_p.R156H	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	293					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGGGATGGGCGGATGATCTC	0.667												
PCK1	5105	broad.mit.edu	37	20	56137185	56137185	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:56137185G>A	uc002xyn.3	+	3	446	c.283G>A	c.(283-285)GTC>ATC	p.V95I	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	95					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GACGGTTATCGTCACCCAAGA	0.552												
SLMO2	51012	broad.mit.edu	37	20	57610086	57610086	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:57610086T>C	uc002yam.2	-	6	677	c.561A>G	c.(559-561)GCA>GCG	p.A187A	ATP5E_uc002yal.2_5'Flank|SLMO2_uc010zzv.1_Silent_p.A157A	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2	187										skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			ACGCTGCTGCTGCCATTGGAG	0.408												
EDN3	1908	broad.mit.edu	37	20	57876698	57876698	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:57876698C>T	uc002yap.2	+	2	655	c.286C>T	c.(286-288)CGC>TGC	p.R96C	EDN3_uc002yao.1_Missense_Mutation_p.R96C|EDN3_uc002yaq.2_Missense_Mutation_p.R96C|EDN3_uc002yar.2_Missense_Mutation_p.R96C|EDN3_uc002yas.2_Missense_Mutation_p.R96C	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	96					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			skin(1)	1	all_lung(29;0.0115)					CCGATCCAGGCGCTGCACGTG	0.617												
LAMA5	3911	broad.mit.edu	37	20	60887584	60887584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:60887584G>A	uc002ycq.2	-	68	9299	c.9232C>T	c.(9232-9234)CGA>TGA	p.R3078*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3078	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGAGCCGTCGCAGGCTGTGG	0.677												
YTHDF1	54915	broad.mit.edu	37	20	61833646	61833646	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:61833646A>G	uc002yeh.2	-	4	1940	c.1646T>C	c.(1645-1647)GTG>GCG	p.V549A	YTHDF1_uc011aaq.1_Missense_Mutation_p.V499A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	549										ovary(2)	2						CACCTTGCGCACCACCTCCTC	0.567												
PRIC285	85441	broad.mit.edu	37	20	62197486	62197486	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:62197486C>T	uc002yfm.2	-	9	3581	c.2689G>A	c.(2689-2691)GTG>ATG	p.V897M	PRIC285_uc002yfl.1_Missense_Mutation_p.V328M	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	897					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGTTGAGCACGCGGGCGTCG	0.697												
BACH1	571	broad.mit.edu	37	21	30715090	30715090	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:30715090G>A	uc002ynj.2	+	5	2262	c.2147G>A	c.(2146-2148)CGT>CAT	p.R716H	BACH1_uc002ynk.2_Missense_Mutation_p.R716H|BACH1_uc002ynl.2_Intron	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	716						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						GAACAGTGTCGTCAGAGTGGT	0.507												
TIAM1	7074	broad.mit.edu	37	21	32559328	32559328	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:32559328G>T	uc002yow.1	-	15	3123	c.2651C>A	c.(2650-2652)GCT>GAT	p.A884D	TIAM1_uc011adk.1_Missense_Mutation_p.A884D|TIAM1_uc011adl.1_Missense_Mutation_p.A824D	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	884	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTTCTTGGAAGCTAAACCGGT	0.433												
SFRS15	57466	broad.mit.edu	37	21	33103990	33103990	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:33103990C>T	uc002ypd.2	-	1	442	c.16G>A	c.(16-18)GCC>ACC	p.A6T	SFRS15_uc002ype.2_Missense_Mutation_p.A6T|SFRS15_uc010glu.2_Missense_Mutation_p.A6T|SFRS15_uc002ypg.2_Missense_Mutation_p.A6T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	6	CID.					nucleus	nucleotide binding|RNA binding				0						TGGTTGAAGGCGTTGACGGCG	0.716												
DOPEY2	9980	broad.mit.edu	37	21	37617999	37617999	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:37617999C>T	uc002yvg.2	+	19	3800	c.3721C>T	c.(3721-3723)CTC>TTC	p.L1241F	DOPEY2_uc011aeb.1_Missense_Mutation_p.L1190F|DOPEY2_uc002yvh.2_Missense_Mutation_p.L92F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1241					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TCGGCGGGTCCTCTATGCCTT	0.587												
MORC3	23515	broad.mit.edu	37	21	37747468	37747468	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:37747468C>T	uc002yvi.2	+	17	2770	c.2694C>T	c.(2692-2694)AAC>AAT	p.N898N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	898					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TTCGAGTTAACGTAGGACAAC	0.358												
DSCAM	1826	broad.mit.edu	37	21	42080531	42080531	+	Silent	SNP	G	G	A	rs147347671	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:42080531G>A	uc002yyq.1	-	2	662	c.210C>T	c.(208-210)CCC>CCT	p.P70P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	70	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGGATCCCGGGGACATCGT	0.567												
PRDM15	63977	broad.mit.edu	37	21	43242266	43242266	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:43242266C>T	uc002yzq.1	-	22	3098	c.2987G>A	c.(2986-2988)CGG>CAG	p.R996Q	PRDM15_uc002yzo.2_Missense_Mutation_p.R667Q|PRDM15_uc002yzp.2_Missense_Mutation_p.R687Q|PRDM15_uc002yzr.1_Missense_Mutation_p.R687Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	996	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACCTGGCACCGCTTGCAGCT	0.587												
ITGB2	3689	broad.mit.edu	37	21	46321619	46321619	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:46321619G>A	uc002zgd.2	-	5	573	c.529C>T	c.(529-531)CTG>TTG	p.L177L	ITGB2_uc002zge.2_Silent_p.L177L|ITGB2_uc002zgf.3_Silent_p.L177L|ITGB2_uc011afl.1_Silent_p.L99L|ITGB2_uc010gpw.2_Silent_p.L120L|ITGB2_uc002zgg.2_Silent_p.L177L	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	177	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACGAACGGCAGCACGGTCTTG	0.637												
PCNT	5116	broad.mit.edu	37	21	47851682	47851682	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:47851682C>T	uc002zji.3	+	38	8411	c.8304C>T	c.(8302-8304)ACC>ACT	p.T2768T	PCNT_uc002zjj.2_Silent_p.T2650T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2768	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGCTCCTGACCGAGCAGCTGA	0.647												
CYTSA	23384	broad.mit.edu	37	22	24717327	24717327	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:24717327C>T	uc002zzw.2	+	5	686	c.379C>T	c.(379-381)CGT>TGT	p.R127C	CYTSA_uc002zzv.3_Missense_Mutation_p.R127C|CYTSA_uc011ajq.1_Missense_Mutation_p.R127C	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	127					cell cycle|cell division						0						AGAAAGATTACGTGAACGTAC	0.438												
LRP5L	91355	broad.mit.edu	37	22	25747816	25747816	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:25747816G>A	uc003abs.2	-	4	3174	c.709C>T	c.(709-711)CGC>TGC	p.R237C	LRP5L_uc011ajz.1_Missense_Mutation_p.R237C|LRP5L_uc010guw.1_Intron	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	237											0						TGTGTGGGGCGTGAAGAAGCA	0.572												
SFI1	9814	broad.mit.edu	37	22	32011260	32011260	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:32011260G>T	uc003ale.2	+	29	3688	c.3295G>T	c.(3295-3297)GCC>TCC	p.A1099S	SFI1_uc003alf.2_Missense_Mutation_p.A1068S|SFI1_uc003alg.2_Missense_Mutation_p.A1017S|SFI1_uc011alp.1_Missense_Mutation_p.A1005S|SFI1_uc011alq.1_Missense_Mutation_p.A1044S|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.A191S|SFI1_uc003alj.2_Missense_Mutation_p.A233S	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1099					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GGCTGCACCAGCCAGGGTACG	0.642												
RASD2	23551	broad.mit.edu	37	22	35947942	35947942	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:35947942G>A	uc003anx.2	+	3	869	c.664G>A	c.(664-666)GTC>ATC	p.V222I	RASD2_uc003any.2_Missense_Mutation_p.V222I	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	222	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CATGCGCCGCGTCAAGGAGAT	0.637												
GGA1	26088	broad.mit.edu	37	22	38027048	38027048	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38027048C>T	uc003atc.2	+	14	1835	c.1470C>T	c.(1468-1470)CCC>CCT	p.P490P	GGA1_uc003atd.2_Silent_p.P403P|GGA1_uc003ate.2_Silent_p.P486P|GGA1_uc003atf.2_Silent_p.P417P	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	490	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CGCAGCAGCCCGTACCAACCG	0.622												
TMEM184B	25829	broad.mit.edu	37	22	38621523	38621523	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38621523A>G	uc003avf.1	-	7	919	c.695T>C	c.(694-696)TTC>TCC	p.F232S	TMEM184B_uc003avg.1_Missense_Mutation_p.F232S|TMEM184B_uc003avh.1_Missense_Mutation_p.F166S|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	232	Helical; (Potential).					integral to membrane					0	Melanoma(58;0.045)					GGCGAAGTAGAAGAGGAAGAG	0.577												
KCNJ4	3761	broad.mit.edu	37	22	38823526	38823526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38823526C>T	uc003avs.1	-	2	709	c.612G>A	c.(610-612)TGG>TGA	p.W204*	KCNJ4_uc003avt.1_Nonsense_Mutation_p.W204*	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	204	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGCCCACGCGCCACATGAGGC	0.657												
APOBEC3G	60489	broad.mit.edu	37	22	39477208	39477208	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:39477208A>G	uc003awx.2	+	3	784	c.442A>G	c.(442-444)ACC>GCC	p.T148A	APOBEC3G_uc003awy.2_Missense_Mutation_p.T81A	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	148					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					TCCGCGTGCCACCATGAAGAT	0.537												
ADSL	158	broad.mit.edu	37	22	40762510	40762510	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:40762510C>T	uc003ayp.3	+	13	1498	c.1439C>T	c.(1438-1440)GCA>GTA	p.A480V	ADSL_uc003ays.3_Missense_Mutation_p.A421V|ADSL_uc003ayq.3_Missense_Mutation_p.A494V|ADSL_uc003ayr.3_Missense_Mutation_p.A256V|ADSL_uc003ayt.3_Missense_Mutation_p.A465V	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	480					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						AAGGTGAAAGCAGAATTATGT	0.373												
ACO2	50	broad.mit.edu	37	22	41904043	41904043	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:41904043G>A	uc003bac.2	+	3	444	c.422G>A	c.(421-423)CGC>CAC	p.R141H	ACO2_uc003bad.2_Missense_Mutation_p.R141H	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	141					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						AAAGACCTGCGCCGGGCCAAG	0.617												
TTLL1	25809	broad.mit.edu	37	22	43460205	43460205	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:43460205C>T	uc003bdi.2	-	6	870	c.629G>A	c.(628-630)CGC>CAC	p.R210H	TTLL1_uc010gzh.2_Missense_Mutation_p.R210H|TTLL1_uc003bdj.2_Missense_Mutation_p.R96H|TTLL1_uc003bdh.2_Missense_Mutation_p.R172H	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	210	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CATGTAACAGCGCAGTGGACG	0.463												
SMC1B	27127	broad.mit.edu	37	22	45802421	45802421	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:45802421C>T	uc003bgc.2	-	4	587	c.535G>A	c.(535-537)GAA>AAA	p.E179K	SMC1B_uc003bgd.2_Missense_Mutation_p.E179K|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	179	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCATCCTCTTCGGCTTTTTGT	0.368												
ATXN10	25814	broad.mit.edu	37	22	46134638	46134638	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46134638G>A	uc003bgm.1	+	8	1179	c.922G>A	c.(922-924)GAC>AAC	p.D308N	ATXN10_uc011aqt.1_Missense_Mutation_p.D244N|ATXN10_uc003bgn.1_Missense_Mutation_p.D119N	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	308					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TAGGCTTCTCGACGTCCTGTG	0.383												
PKDREJ	10343	broad.mit.edu	37	22	46652994	46652994	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46652994G>A	uc003bhh.2	-	1	6226	c.6226C>T	c.(6226-6228)CGC>TGC	p.R2076C		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2076	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGAGCCAGGCGCACATCGTAG	0.458												
PKDREJ	10343	broad.mit.edu	37	22	46658610	46658610	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46658610C>T	uc003bhh.2	-	1	610	c.610G>A	c.(610-612)GTC>ATC	p.V204I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	204	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGACTCGACGGCTCTGTGG	0.637												
ZBED4	9889	broad.mit.edu	37	22	50277799	50277799	+	Silent	SNP	C	C	T	rs148606148		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50277799C>T	uc003bix.2	+	2	959	c.489C>T	c.(487-489)CGC>CGT	p.R163R		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	163	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTGAGGCGCGCACACCCGA	0.552												
TTLL8	164714	broad.mit.edu	37	22	50470379	50470379	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50470379C>T	uc011ark.1	-	11	1443	c.1443G>A	c.(1441-1443)CCG>CCA	p.P481P		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTTCATGGACGGGTAGATGA	0.647												
PANX2	56666	broad.mit.edu	37	22	50616018	50616018	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50616018G>A	uc003bjn.3	+	2	877	c.877G>A	c.(877-879)GTG>ATG	p.V293M	PANX2_uc003bjp.3_Missense_Mutation_p.V159M|PANX2_uc003bjo.3_Missense_Mutation_p.V293M	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	293	Helical; (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CATCGCGGGCGTGGACATCGT	0.647												
PLXNB2	23654	broad.mit.edu	37	22	50728320	50728320	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50728320A>C	uc003bkv.3	-	3	800	c.694T>G	c.(694-696)TTC>GTC	p.F232V		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	232	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTGGTTGAAGACAAAGAAG	0.612												
ITPR1	3708	broad.mit.edu	37	3	4669509	4669509	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:4669509G>A	uc003bqa.2	+	5	574	c.226G>A	c.(226-228)GCT>ACT	p.A76T	ITPR1_uc010hbz.2_Missense_Mutation_p.A76T|ITPR1_uc010hca.1_Missense_Mutation_p.A76T|ITPR1_uc011asu.1_Missense_Mutation_p.A76T|ITPR1_uc010hcb.1_Missense_Mutation_p.A76T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	76	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGAAAGCCGCTAAGCCTGG	0.522												
ITPR1	3708	broad.mit.edu	37	3	4810245	4810245	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:4810245G>A	uc003bqa.2	+	43	5980	c.5632G>A	c.(5632-5634)GAG>AAG	p.E1878K	ITPR1_uc010hca.1_Missense_Mutation_p.E1863K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E848K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1926	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAGCTCCTGGAGGCCTCCGC	0.587												
SETD5	55209	broad.mit.edu	37	3	9488801	9488801	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:9488801G>A	uc003brt.2	+	14	2027	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	SETD5_uc003brs.1_Missense_Mutation_p.R512Q|SETD5_uc003bru.2_Missense_Mutation_p.R433Q|SETD5_uc003brv.2_Missense_Mutation_p.R420Q|SETD5_uc010hck.2_Missense_Mutation_p.R13Q|SETD5_uc003brx.2_Missense_Mutation_p.R200Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	531										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAAAGAAGCGGCGGGATCAG	0.448												
BRPF1	7862	broad.mit.edu	37	3	9780731	9780731	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:9780731C>T	uc003bse.2	+	3	1047	c.648C>T	c.(646-648)GAC>GAT	p.D216D	BRPF1_uc003bsf.2_Silent_p.D216D|BRPF1_uc003bsg.2_Silent_p.D216D|BRPF1_uc011ati.1_Silent_p.D216D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	216	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					TAGAGTATGACATGGACGAGG	0.502												
ATP2B2	491	broad.mit.edu	37	3	10370624	10370624	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:10370624C>T	uc003bvt.2	-	23	4045	c.3606G>A	c.(3604-3606)CCG>CCA	p.P1202P	ATP2B2_uc003bvv.2_Silent_p.P1157P|ATP2B2_uc003bvw.2_Silent_p.P1157P|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Silent_p.P907P|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1202	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGATGACGGCGGGCTCGAGT	0.562												
SLC6A1	6529	broad.mit.edu	37	3	11070970	11070970	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:11070970C>T	uc010hdq.2	+	12	1666	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	419					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTCCGCAACCGCAGAGAGCT	0.572												
FBLN2	2199	broad.mit.edu	37	3	13613154	13613154	+	Silent	SNP	C	C	T	rs111711686		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:13613154C>T	uc011avb.1	+	2	1424	c.1299C>T	c.(1297-1299)AGC>AGT	p.S433S	FBLN2_uc011auz.1_Silent_p.S459S|FBLN2_uc011ava.1_Silent_p.S433S|FBLN2_uc011avc.1_Silent_p.S433S	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	433	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCAGAAGTAGCCCTGAAGGTA	0.622												
FGD5	152273	broad.mit.edu	37	3	14861613	14861613	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:14861613C>T	uc003bzc.2	+	1	1145	c.1035C>T	c.(1033-1035)AGC>AGT	p.S345S	FGD5_uc011avk.1_Silent_p.S345S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	345					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						TCACAGGAAGCCCCTATGAGT	0.517												
CLASP2	23122	broad.mit.edu	37	3	33626368	33626368	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:33626368C>T	uc003cfu.2	-	22	2467	c.2113G>A	c.(2113-2115)GCC>ACC	p.A705T	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.A298T	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	706										ovary(3)|central_nervous_system(1)	4						GTGGACAGGGCTGTTGTGGTC	0.483												
TRANK1	9881	broad.mit.edu	37	3	36874817	36874817	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:36874817C>A	uc003cgj.2	-	12	4777	c.4475G>T	c.(4474-4476)GGG>GTG	p.G1492V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2042					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTCCAAGCCCCCTGGAGCCAG	0.522												
CCDC13	152206	broad.mit.edu	37	3	42751226	42751226	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:42751226G>T	uc003cly.3	-	15	2022	c.1938C>A	c.(1936-1938)GCC>GCA	p.A646A		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	646										ovary(1)	1						CGGAGAGCTGGGCAAAGGATG	0.597												
ZNF197	10168	broad.mit.edu	37	3	44684230	44684230	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:44684230A>C	uc003cnm.2	+	6	1814	c.1608A>C	c.(1606-1608)AAA>AAC	p.K536N	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	536					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CTGGGGAAAAACCCTATAAAT	0.418												
PRSS50	29122	broad.mit.edu	37	3	46754425	46754425	+	Missense_Mutation	SNP	C	C	T	rs143437619	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:46754425C>T	uc003cqe.1	-	5	946	c.887G>A	c.(886-888)TGT>TAT	p.C296Y	PRSS50_uc003cqf.1_Missense_Mutation_p.C210Y	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	296	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GTCCTCCGCACACATCATCTG	0.498												
PTPN23	25930	broad.mit.edu	37	3	47452631	47452631	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:47452631G>A	uc003crf.1	+	20	3439	c.3343G>A	c.(3343-3345)GCA>ACA	p.A1115T	PTPN23_uc011baw.1_Missense_Mutation_p.A1080T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A985T|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1115	His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGAGGCGCCGCAGCTGCAGA	0.711												
BSN	8927	broad.mit.edu	37	3	49688124	49688124	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49688124C>T	uc003cxe.3	+	4	1712	c.1598C>T	c.(1597-1599)CCG>CTG	p.P533L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	533					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCTGCCGCCGCCCACCTCA	0.642												
IP6K1	9807	broad.mit.edu	37	3	49764604	49764604	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49764604A>G	uc003cxm.1	-	6	1592	c.1277T>C	c.(1276-1278)CTG>CCG	p.L426P	IP6K1_uc003cxn.1_Missense_Mutation_p.L261P|IP6K1_uc011bcv.1_Missense_Mutation_p.L261P|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	426					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGTTCTCCAGGCCAAACAC	0.587												
C3orf54	389119	broad.mit.edu	37	3	49842206	49842206	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49842206G>A	uc003cxq.1	+	2	783	c.650G>A	c.(649-651)CGT>CAT	p.R217H		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	215											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTGGGCACCGTGCCCGTGCT	0.652												
RAD54L2	23132	broad.mit.edu	37	3	51675812	51675812	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:51675812G>A	uc011bdt.1	+	14	2404	c.2279G>A	c.(2278-2280)CGA>CAA	p.R760Q	RAD54L2_uc003dbh.2_Missense_Mutation_p.R351Q|RAD54L2_uc011bdu.1_Missense_Mutation_p.R454Q|RAD54L2_uc003dbj.2_Missense_Mutation_p.R86Q	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	760	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTGGAAAACGAGAAGTACCC	0.483												
TLR9	54106	broad.mit.edu	37	3	52255795	52255795	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:52255795C>T	uc003dda.1	-	2	3171	c.2537G>A	c.(2536-2538)TGC>TAC	p.C846Y	TLR9_uc003ddb.2_Missense_Mutation_p.C943Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	846	Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGGTGGAAGCAGTACCAGAG	0.647												
STAB1	23166	broad.mit.edu	37	3	52552802	52552802	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:52552802C>T	uc003dej.2	+	48	5025	c.4951C>T	c.(4951-4953)CGG>TGG	p.R1651W	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1651	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTGGCTGTCGGCGGCTGCG	0.657												
IL17RD	54756	broad.mit.edu	37	3	57135251	57135251	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:57135251C>T	uc003dil.2	-	11	1209	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	IL17RD_uc003dik.2_Missense_Mutation_p.V350I|IL17RD_uc010hna.2_Missense_Mutation_p.V230I|IL17RD_uc011bex.1_Missense_Mutation_p.V230I	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	374	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAACACTGGACGACATTCATG	0.537												
CRYBG3	131544	broad.mit.edu	37	3	97595964	97595964	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:97595964G>A	uc003drx.2	+	1	146	c.82G>A	c.(82-84)GAG>AAG	p.E28K		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						CAAGAGGAGAGAGACAGATTA	0.388												
PLCXD2	257068	broad.mit.edu	37	3	111432785	111432785	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:111432785C>T	uc003dya.2	+	3	1262	c.676C>T	c.(676-678)CCA>TCA	p.P226S	PLCXD2_uc003dyb.2_Missense_Mutation_p.P226S|PLCXD2_uc003dxz.2_Missense_Mutation_p.P226S	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	226					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						CTTCCTGTGGCCAGGAAAGAA	0.483												
BOC	91653	broad.mit.edu	37	3	112998694	112998694	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:112998694C>T	uc003dzx.2	+	13	2665	c.2044C>T	c.(2044-2046)CGG>TGG	p.R682W	BOC_uc003dzy.2_Missense_Mutation_p.R682W|BOC_uc003dzz.2_Missense_Mutation_p.R683W|BOC_uc003eab.2_Missense_Mutation_p.R383W|BOC_uc003eac.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	682	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GTTTCGAGTCCGGGCTCTGAA	0.627												
POPDC2	64091	broad.mit.edu	37	3	119379220	119379220	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:119379220C>T	uc003ecx.1	-	1	185	c.51G>A	c.(49-51)GCG>GCA	p.A17A	POPDC2_uc010hqw.1_Silent_p.A17A|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	17						integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		ACCTAATGCACGCTGAACCCT	0.567												
NR1I2	8856	broad.mit.edu	37	3	119526207	119526207	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:119526207G>A	uc003edj.2	+	2	1949	c.110G>A	c.(109-111)GGT>GAT	p.G37D	NR1I2_uc003edi.2_Missense_Mutation_p.G37D|NR1I2_uc003edk.2_Missense_Mutation_p.G76D	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	37					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GAAGTCGGAGGTCCCCAAATC	0.502												
SLC15A2	6565	broad.mit.edu	37	3	121658339	121658339	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:121658339T>C	uc003eep.2	+	20	2058	c.1905T>C	c.(1903-1905)TCT>TCC	p.S635S	SLC15A2_uc011bjn.1_Silent_p.S604S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	635					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTCTTATTCTCAGGTAAGTT	0.398												
UMPS	7372	broad.mit.edu	37	3	124462820	124462820	+	Silent	SNP	C	C	T	rs112541424	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:124462820C>T	uc003ehl.3	+	6	1438	c.1332C>T	c.(1330-1332)TCC>TCT	p.S444S	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.S266S|UMPS_uc011bkb.1_Silent_p.S352S|UMPS_uc011bkc.1_Silent_p.S266S|UMPS_uc003ehn.3_Silent_p.S266S|UMPS_uc011bkd.1_Silent_p.S169S	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	444	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		AACGAGGTTCCGATATCATCA	0.413												
PLXNA1	5361	broad.mit.edu	37	3	126735442	126735442	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:126735442G>A	uc003ejg.2	+	15	3032	c.3028G>A	c.(3028-3030)GCC>ACC	p.A1010T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1033	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CATCAACCGCGCCCAGCTCAC	0.637												
IFT122	55764	broad.mit.edu	37	3	129202444	129202444	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:129202444G>A	uc003emm.2	+	15	1976	c.1770G>A	c.(1768-1770)CTG>CTA	p.L590L	IFT122_uc003eml.2_Silent_p.L641L|IFT122_uc003emn.2_Silent_p.L531L|IFT122_uc003emo.2_Silent_p.L479L|IFT122_uc003emp.2_Silent_p.L440L|IFT122_uc010htc.2_Silent_p.L582L|IFT122_uc011bky.1_Silent_p.L381L|IFT122_uc003emq.2_Silent_p.L430L|IFT122_uc003emr.2_Silent_p.L381L|IFT122_uc011bla.1_Silent_p.L381L|IFT122_uc011bkx.1_Silent_p.L430L|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_Silent_p.L69L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	590					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GGCAGAAGCTGCAGGGCTTTG	0.577												
COL6A6	131873	broad.mit.edu	37	3	130285684	130285684	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:130285684G>A	uc010htl.2	+	4	1452	c.1421G>A	c.(1420-1422)CGG>CAG	p.R474Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	474	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CATAAGGTGCGGGTTGGGGCC	0.493												
COL6A6	131873	broad.mit.edu	37	3	130368359	130368359	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:130368359G>A	uc010htl.2	+	32	5717	c.5686G>A	c.(5686-5688)GTG>ATG	p.V1896M	COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1896	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AATCATTCCCGTGGTGATCAC	0.522												
EPHB1	2047	broad.mit.edu	37	3	134967327	134967327	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:134967327A>C	uc003eqt.2	+	14	2886	c.2666A>C	c.(2665-2667)AAG>ACG	p.K889T	EPHB1_uc003equ.2_Missense_Mutation_p.K450T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	889	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAAGTCTCAAGACTGTGGCA	0.552												
PRR23B	389151	broad.mit.edu	37	3	138739117	138739117	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:138739117G>A	uc003esy.1	-	1	652	c.387C>T	c.(385-387)GGC>GGT	p.G129G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	129										breast(1)	1						CCCTGACAGCGCCCAGGAAAA	0.647												
PAQR9	344838	broad.mit.edu	37	3	142681852	142681852	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:142681852G>A	uc003evg.2	-	1	327	c.327C>T	c.(325-327)GGC>GGT	p.G109G	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	109	Extracellular (Potential).					integral to membrane	receptor activity				0						GCACGTCGCCGCCGCTCAGGA	0.622												
ZIC1	7545	broad.mit.edu	37	3	147130449	147130449	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:147130449C>T	uc003ewe.2	+	2	1846	c.1127C>T	c.(1126-1128)TCG>TTG	p.S376L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	376	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CATCCCAGTTCGCTGCGCAAA	0.592												
GYG1	2992	broad.mit.edu	37	3	148741948	148741948	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:148741948C>T	uc003ewn.2	+	6	770	c.717C>T	c.(715-717)AAC>AAT	p.N239N	GYG1_uc011bnp.1_Missense_Mutation_p.T193I|GYG1_uc003ewo.2_Silent_p.N239N|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	239					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGATCCCAACATGACTCATC	0.433												
SHOX2	6474	broad.mit.edu	37	3	157820483	157820483	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:157820483G>A	uc003fbr.2	-	2	678	c.539C>T	c.(538-540)TCG>TTG	p.S180L	SHOX2_uc003fbs.2_Missense_Mutation_p.S204L|SHOX2_uc010hvw.2_Missense_Mutation_p.S180L	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	180	Homeobox.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCGGGCCTCCGACAGGCCCAG	0.622												
BCHE	590	broad.mit.edu	37	3	165547357	165547357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:165547357C>A	uc003fem.3	-	2	1625	c.1465G>T	c.(1465-1467)GAA>TAA	p.E489*	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	489					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTCAAAATTTCCTCGGCTTTT	0.398												
BCHE	590	broad.mit.edu	37	3	165547582	165547582	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:165547582G>A	uc003fem.3	-	2	1400	c.1240C>T	c.(1240-1242)CGT>TGT	p.R414C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	414			R -> C (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAGGCCTCACGGTAGTTTTCA	0.403												
SPATA16	83893	broad.mit.edu	37	3	172834946	172834946	+	Silent	SNP	G	G	A	rs146363552		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:172834946G>A	uc003fin.3	-	2	734	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	192					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGCCAAGGCGTATTTCTTTT	0.403												
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:178916936G>A	uc003fjk.2	+	2	480	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
DCUN1D1	54165	broad.mit.edu	37	3	182662919	182662919	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:182662919C>T	uc003fld.1	-	7	792	c.743G>A	c.(742-744)CGC>CAC	p.R248H	DCUN1D1_uc011bqn.1_Missense_Mutation_p.R105H	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	248	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AATTTGAGGGCGTGCAAATTC	0.373												
LAMP3	27074	broad.mit.edu	37	3	182872122	182872122	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:182872122T>C	uc003flh.3	-	2	331	c.107A>G	c.(106-108)TAT>TGT	p.Y36C		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	36	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTGAGAATAATCTCTGGT	0.393												
KLHL24	54800	broad.mit.edu	37	3	183368193	183368193	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:183368193C>T	uc003flv.2	+	3	344	c.49C>T	c.(49-51)CGT>TGT	p.R17C	KLHL24_uc003flw.2_Missense_Mutation_p.R17C|KLHL24_uc003flx.2_Missense_Mutation_p.R17C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	17						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TCTTGGGGTGCGTGATTCCCC	0.413												
MUC4	4585	broad.mit.edu	37	3	195481223	195481223	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:195481223G>A	uc011bto.1	-	20	15265	c.14805C>T	c.(14803-14805)GAC>GAT	p.D4935D	MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Silent_p.D661D|MUC4_uc003fva.2_Silent_p.D543D|MUC4_uc003fvb.2_Silent_p.D579D|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Silent_p.D579D|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Silent_p.D543D|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Silent_p.D627D|MUC4_uc011bti.1_Silent_p.D627D|MUC4_uc011btj.1_Silent_p.D804D|MUC4_uc011btk.1_Silent_p.D543D|MUC4_uc011btl.1_Silent_p.D572D|MUC4_uc011btm.1_Silent_p.D752D|MUC4_uc011btn.1_Silent_p.D543D|MUC4_uc003fvo.2_Silent_p.D827D|MUC4_uc003fvp.2_Silent_p.D776D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1820					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGCCCCCGTCACACTTGC	0.652												
MFI2	4241	broad.mit.edu	37	3	196743090	196743090	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:196743090C>T	uc003fxk.3	-	8	1164	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	351	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCCTTCATGGCGTGCAGGTAC	0.602												
BDH1	622	broad.mit.edu	37	3	197239128	197239128	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:197239128A>G	uc003fxr.2	-	8	1072	c.670T>C	c.(670-672)TAT>CAT	p.Y224H	BDH1_uc003fxs.2_Missense_Mutation_p.Y224H|BDH1_uc003fxt.2_Missense_Mutation_p.Y137H|BDH1_uc003fxu.2_Missense_Mutation_p.Y224H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	224					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TACATCTCATAGCGCAGGCAG	0.622												
GAK	2580	broad.mit.edu	37	4	860170	860170	+	Missense_Mutation	SNP	C	C	T	rs140672161		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:860170C>T	uc003gbm.3	-	22	3224	c.3025G>A	c.(3025-3027)GCC>ACC	p.A1009T	GAK_uc003gbn.3_Missense_Mutation_p.A930T|GAK_uc010ibi.2_Missense_Mutation_p.A190T|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A862T	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1009					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		AGGAAGTCGGCGCTGCAGGAT	0.627												
EVC2	132884	broad.mit.edu	37	4	5624401	5624401	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:5624401G>A	uc003gij.2	-	14	2418	c.2364C>T	c.(2362-2364)GCC>GCT	p.A788A	EVC2_uc011bwb.1_Silent_p.A228A|EVC2_uc003gik.2_Silent_p.A708A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	788	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						CCAGCTGCTCGGCCCGTGCAG	0.647												
EVC	2121	broad.mit.edu	37	4	5733348	5733348	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:5733348G>T	uc003gil.1	+	4	765	c.581G>T	c.(580-582)CGG>CTG	p.R194L	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	194					muscle organ development	integral to membrane		p.R194R(1)		ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				ACCTTCCTCCGGGTGAACGCC	0.627												
WFS1	7466	broad.mit.edu	37	4	6303575	6303575	+	Missense_Mutation	SNP	C	C	T	rs112967046		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:6303575C>T	uc003giy.2	+	8	2219	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	WFS1_uc003gix.2_Missense_Mutation_p.R685C|WFS1_uc003giz.2_Missense_Mutation_p.R503C	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	685					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CAACATGGCGCGCACCCAGAT	0.637												
CCDC96	257236	broad.mit.edu	37	4	7044597	7044597	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:7044597C>T	uc003gjv.2	-	1	132	c.69G>A	c.(67-69)GCG>GCA	p.A23A	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	23											0						TGGACGGCCGCGCGGCCAGGC	0.706												
SORCS2	57537	broad.mit.edu	37	4	7728548	7728548	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:7728548G>A	uc003gkb.3	+	21	2787	c.2787G>A	c.(2785-2787)TCG>TCA	p.S929S	SORCS2_uc011bwi.1_Silent_p.S757S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	929	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						CGCGGTTTTCGGACACGGGCG	0.657												
BOD1L	259282	broad.mit.edu	37	4	13600885	13600885	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:13600885C>T	uc003gmz.1	-	10	7756	c.7639G>A	c.(7639-7641)GCT>ACT	p.A2547T	BOD1L_uc010idr.1_Missense_Mutation_p.A1884T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2547							DNA binding			ovary(5)|breast(1)	6						GAATGCTCAGCCACGGTCCCT	0.488											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WDR19	57728	broad.mit.edu	37	4	39188158	39188158	+	Splice_Site	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:39188158G>T	uc003gtv.2	+	3	253	c.99_splice	c.e3-1	p.G33_splice	WDR19_uc010ifl.1_Splice_Site|WDR19_uc003gtu.1_Splice_Site_p.G33_splice|WDR19_uc011byi.1_Splice_Site	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATTGCTTTCAGAGCTGATTAT	0.209												
CORIN	10699	broad.mit.edu	37	4	47788851	47788851	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:47788851A>G	uc003gxm.2	-	3	393	c.300T>C	c.(298-300)AAT>AAC	p.N100N	CORIN_uc011bzf.1_5'UTR|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Silent_p.N100N|CORIN_uc011bzi.1_Silent_p.N100N|CORIN_uc003gxn.3_Silent_p.N100N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	100	Extracellular (Potential).				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						TATAAATTGTATTTGTAAGAA	0.443												
EPHA5	2044	broad.mit.edu	37	4	66189849	66189849	+	Missense_Mutation	SNP	C	C	T	rs139793674		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:66189849C>T	uc003hcy.2	-	18	3290	c.3097G>A	c.(3097-3099)GGA>AGA	p.G1033R	EPHA5_uc003hcx.2_Missense_Mutation_p.G965R|EPHA5_uc003hcz.2_Missense_Mutation_p.G1011R|EPHA5_uc011cah.1_Missense_Mutation_p.G1034R|EPHA5_uc011cai.1_Missense_Mutation_p.G1012R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1033	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCACCATTCCGTTTACCAGC	0.418										TSP Lung(17;0.13)		
TMPRSS11D	9407	broad.mit.edu	37	4	68688175	68688175	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:68688175C>T	uc003hdq.2	-	10	1202	c.1137G>A	c.(1135-1137)CGG>CGA	p.R379R	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Silent_p.R160R|TMPRSS11D_uc011caj.1_Silent_p.R262R	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	379	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TAAACCAAAGCCGCCGTGAGT	0.463												
SMR3A	26952	broad.mit.edu	37	4	71232500	71232500	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:71232500C>A	uc003hfg.1	+	3	275	c.194C>A	c.(193-195)CCA>CAA	p.P65Q	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	65	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				AGATTTCCACCACCCCTTTCT	0.547												
GK2	2712	broad.mit.edu	37	4	80328918	80328918	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:80328918C>T	uc003hlu.2	-	1	455	c.437G>A	c.(436-438)AGC>AAC	p.S146N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	146					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GAAGTAAGTGCTGAGTGGAAG	0.413												
FAM13A	10144	broad.mit.edu	37	4	89859380	89859380	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:89859380C>T	uc003hse.1	-	5	826	c.618G>A	c.(616-618)GGG>GGA	p.G206G	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_Silent_p.G20G	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	206	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TGCCTTCAAGCCCAGGTGGCA	0.393												
UNC5C	8633	broad.mit.edu	37	4	96140425	96140425	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:96140425G>A	uc003htp.1	-	9	1494	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V	UNC5C_uc010ilc.1_Missense_Mutation_p.A466V|UNC5C_uc003htq.2_Missense_Mutation_p.A466V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	447	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGTACATGGCTGCAGCTGA	0.483												
RG9MTD2	93587	broad.mit.edu	37	4	100479244	100479244	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:100479244T>C	uc003huy.2	-	3	623	c.310A>G	c.(310-312)ATT>GTT	p.I104V	RG9MTD2_uc003huz.3_Missense_Mutation_p.I104V|RG9MTD2_uc003hva.3_Missense_Mutation_p.I104V	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	104							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		CAGTCAATAATAAGGCGAAGG	0.348												
DNAJB14	79982	broad.mit.edu	37	4	100824939	100824939	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:100824939A>G	uc003hvl.2	-	7	1110	c.959T>C	c.(958-960)GTG>GCG	p.V320A	DNAJB14_uc003hvk.2_Missense_Mutation_p.V235A|DNAJB14_uc010ili.2_Missense_Mutation_p.V253A	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	320					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ATCTTCCTCCACACTCTTTTC	0.299												
DKK2	27123	broad.mit.edu	37	4	107846975	107846975	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:107846975G>T	uc003hyi.2	-	2	1059	c.354C>A	c.(352-354)CCC>CCA	p.P118P	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.P118P	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	118	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGCGGGTACTGGGGCAGCACA	0.502												
ALPK1	80216	broad.mit.edu	37	4	113350368	113350368	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:113350368G>A	uc003iap.3	+	10	1138	c.859G>A	c.(859-861)GCC>ACC	p.A287T	ALPK1_uc003ian.3_Missense_Mutation_p.A287T|ALPK1_uc011cfx.1_Missense_Mutation_p.A209T|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.A115T	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	287							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCTGGCAGCTGCCTTCAGTGC	0.552												
ANK2	287	broad.mit.edu	37	4	114267082	114267082	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:114267082C>T	uc003ibe.3	+	35	4375	c.4275C>T	c.(4273-4275)TGC>TGT	p.C1425C	ANK2_uc003ibd.3_Silent_p.C1416C|ANK2_uc003ibf.3_Silent_p.C1425C|ANK2_uc011cgc.1_Silent_p.C601C|ANK2_uc003ibg.3_Silent_p.C420C|ANK2_uc003ibh.3_Silent_p.C99C|ANK2_uc011cgb.1_Silent_p.C1440C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1392					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGAACCTTGCGGACGACTAT	0.403												
PDE5A	8654	broad.mit.edu	37	4	120527968	120527968	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:120527968G>A	uc003idh.2	-	2	792	c.637C>T	c.(637-639)CTG>TTG	p.L213L	PDE5A_uc003idf.2_Silent_p.L171L|PDE5A_uc003idg.2_Silent_p.L161L	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	213	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACTTCTTCCAGTGTTGAACCT	0.453												
SPATA5	166378	broad.mit.edu	37	4	123949476	123949476	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:123949476C>T	uc003iez.3	+	11	2078	c.2005C>T	c.(2005-2007)CCA>TCA	p.P669S	SPATA5_uc003iey.2_Missense_Mutation_p.P668S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	669	ATP 2 (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						TCTCTATGGGCCACCTGGGTG	0.423												
INTU	27152	broad.mit.edu	37	4	128584639	128584639	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:128584639G>T	uc003ifk.1	+	4	942	c.872G>T	c.(871-873)TGG>TTG	p.W291L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	291										ovary(1)	1						AAGCTTCTCTGGGGAGAAGAG	0.428												
PCDH10	57575	broad.mit.edu	37	4	134073642	134073642	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134073642A>G	uc003iha.2	+	1	3173	c.2347A>G	c.(2347-2349)AGC>GGC	p.S783G	PCDH10_uc003igz.2_Missense_Mutation_p.S783G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGAAACTCAGCAAGTCAGA	0.622												
PCDH10	57575	broad.mit.edu	37	4	134084249	134084249	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134084249A>T	uc003iha.2	+	4	3741	c.2915A>T	c.(2914-2916)AAT>ATT	p.N972I		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	972	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TATCGCAGCAATCTGCATGTT	0.527												
PCDH18	54510	broad.mit.edu	37	4	138452481	138452481	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:138452481T>C	uc003ihe.3	-	1	1149	c.762A>G	c.(760-762)CAA>CAG	p.Q254Q	PCDH18_uc003ihf.3_Silent_p.Q247Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.Q34Q|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	254	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TTTCTAAGAGTTGTATTATAT	0.438												
NAA15	80155	broad.mit.edu	37	4	140264042	140264042	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:140264042T>C	uc003ihu.1	+	5	721	c.465T>C	c.(463-465)GCT>GCC	p.A155A		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	155	TPR 3.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						TTGGTTATGCTATTGCTTACC	0.338												
ZNF827	152485	broad.mit.edu	37	4	146770683	146770683	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:146770683T>G	uc003ikn.2	-	6	2060	c.2012A>C	c.(2011-2013)AAG>ACG	p.K671T	ZNF827_uc003ikm.2_Missense_Mutation_p.K671T|ZNF827_uc010iox.2_Missense_Mutation_p.K321T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CTCTTTAATCTTCACCATCTG	0.453												
RPS3A	6189	broad.mit.edu	37	4	152024210	152024210	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:152024210T>C	uc003ilz.2	+	4	593	c.542T>C	c.(541-543)TTG>TCG	p.L181S	RPS3A_uc011cie.1_Missense_Mutation_p.L181S|SNORD73A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	ribosomal protein S3a	181					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_hematologic(180;0.093)					ACAAATGACTTGAAAGAAGTG	0.428												
SFRP2	6423	broad.mit.edu	37	4	154702746	154702746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:154702746C>A	uc003inv.1	-	3	986	c.745G>T	c.(745-747)GAG>TAG	p.E249*		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	249	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TCGTTCATCTCCTCACAGGTG	0.552												
DCHS2	54798	broad.mit.edu	37	4	155163835	155163835	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:155163835G>A	uc003inw.2	-	22	5666	c.5666C>T	c.(5665-5667)GCC>GTC	p.A1889V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1889	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAGCTGGGGCATTGTCATT	0.383												
FNIP2	57600	broad.mit.edu	37	4	159789592	159789592	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:159789592C>A	uc003iqe.3	+	13	1987	c.1804C>A	c.(1804-1806)CCA>ACA	p.P602T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	602	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTGAGTGCCCAGAGGGCAC	0.592												
VEGFC	7424	broad.mit.edu	37	4	177713407	177713407	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:177713407G>A	uc003ius.1	-	1	489	c.59C>T	c.(58-60)CCG>CTG	p.P20L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	20					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCGAGGACCCGGGAGCAGCGC	0.498												
C4orf41	60684	broad.mit.edu	37	4	184627978	184627978	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:184627978G>A	uc003ivx.2	+	28	3250	c.3074G>A	c.(3073-3075)CGT>CAT	p.R1025H	C4orf41_uc003ivw.2_Missense_Mutation_p.R1025H|C4orf41_uc010isc.2_Missense_Mutation_p.R369H|C4orf41_uc003ivy.2_Missense_Mutation_p.R631H	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	1025											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TCATTTGGGCGTGTCAGAGAG	0.418												
F11	2160	broad.mit.edu	37	4	187206920	187206920	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187206920G>T	uc003iza.1	+	12	1766	c.1433G>T	c.(1432-1434)GGG>GTG	p.G478V		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	478	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCAGAAAGCGGGTATGATATT	0.363												
FAT1	2195	broad.mit.edu	37	4	187517817	187517817	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187517817G>A	uc003izf.2	-	25	13065	c.12877C>T	c.(12877-12879)CAC>TAC	p.H4293Y	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.H184Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4293	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CGGTGCCCGTGCACAGACTCG	0.552										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187584590	187584590	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187584590A>G	uc003izf.2	-	3	3631	c.3443T>C	c.(3442-3444)ATC>ACC	p.I1148T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1148	Extracellular (Potential).|Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTTCCATGATTTCTGGGTA	0.269										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187628366	187628366	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187628366G>A	uc003izf.2	-	2	2804	c.2616C>T	c.(2614-2616)AGC>AGT	p.S872S	FAT1_uc010iso.1_Silent_p.S872S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	872	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CACCCGTCACGCTGTCAATTG	0.512										HNSCC(5;0.00058)		
AHRR	57491	broad.mit.edu	37	5	353844	353844	+	Splice_Site	SNP	G	G	A	rs111551936		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:353844G>A	uc003jav.2	+	3	119	c.75_splice	c.e3-1	p.Q25_splice	AHRR_uc003jaw.2_Splice_Site_p.Q21_splice|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Splice_Site_p.Q21_splice	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCTCCCCACAGGAGGCCCGCC	0.662												
SLC6A19	340024	broad.mit.edu	37	5	1216779	1216779	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1216779C>T	uc003jbw.3	+	7	1050	c.994C>T	c.(994-996)CGC>TGC	p.R332C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	332	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCCACACAGCGCTACGACGA	0.622												
SLC6A18	348932	broad.mit.edu	37	5	1246084	1246084	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1246084G>A	uc003jby.1	+	12	1901	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	593	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCTCACCCGGCGGAGGCGG	0.731												
SLC6A3	6531	broad.mit.edu	37	5	1414836	1414836	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1414836T>C	uc003jck.2	-	8	1247	c.1126A>G	c.(1126-1128)AGT>GGT	p.S376G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	376					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ATGGGCACACTGTGCTTCTGT	0.612												
ADCY2	108	broad.mit.edu	37	5	7784525	7784525	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:7784525C>A	uc003jdz.1	+	19	2499	c.2432C>A	c.(2431-2433)TCT>TAT	p.S811Y	ADCY2_uc011cmo.1_Missense_Mutation_p.S631Y|ADCY2_uc010itm.1_Missense_Mutation_p.S7Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	811	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GTGTCTCTCTCTATATTCTTC	0.378												
PRDM9	56979	broad.mit.edu	37	5	23527861	23527861	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:23527861C>T	uc003jgo.2	+	11	2846	c.2664C>T	c.(2662-2664)TAC>TAT	p.Y888Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	888					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)		
CDH10	1008	broad.mit.edu	37	5	24535293	24535293	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:24535293C>A	uc003jgr.1	-	5	1074	c.742G>T	c.(742-744)GGC>TGC	p.G248C	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	248	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGATAAGCCTCCCATCTGG	0.502										HNSCC(23;0.051)		
C7	730	broad.mit.edu	37	5	40981654	40981654	+	Silent	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:40981654T>G	uc003jmh.2	+	18	2625	c.2511T>G	c.(2509-2511)CCT>CCG	p.P837P		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	837	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GCATAAGGCCTTGTGCTGCGG	0.577												
HCN1	348980	broad.mit.edu	37	5	45303883	45303883	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:45303883G>A	uc003jok.2	-	6	1461	c.1436C>T	c.(1435-1437)GCG>GTG	p.A479V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	479	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ATTAGGATCCGCATTAGCAAA	0.383												
SFRS12	140890	broad.mit.edu	37	5	65457976	65457976	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:65457976G>A	uc003juo.2	+	5	763	c.103G>A	c.(103-105)GCA>ACA	p.A35T	SFRS12_uc003jun.2_Missense_Mutation_p.A151T|SFRS12_uc010iwy.2_Missense_Mutation_p.A35T	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	35					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		TATACCAGCAGCAGCACTAGA	0.413												
CMYA5	202333	broad.mit.edu	37	5	79095310	79095310	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:79095310C>T	uc003kgc.2	+	13	12153	c.12081C>T	c.(12079-12081)AGC>AGT	p.S4027S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4027	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACGCAGAGAGCGAGCAGTTGC	0.507												
SSBP2	23635	broad.mit.edu	37	5	80770364	80770364	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:80770364T>C	uc003kho.2	-	7	661	c.450A>G	c.(448-450)CCA>CCG	p.P150P	SSBP2_uc010jar.2_Silent_p.P38P|SSBP2_uc003khn.2_Silent_p.P24P|SSBP2_uc003khp.2_Silent_p.P150P|SSBP2_uc011ctp.1_Silent_p.P130P|SSBP2_uc011ctq.1_Silent_p.P120P|SSBP2_uc011ctr.1_Silent_p.P120P	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	150	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GCTGACTTCCTGGGACACCTC	0.338												
NR2F1	7025	broad.mit.edu	37	5	92923744	92923744	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:92923744C>T	uc003kkj.2	+	2	2272	c.585C>T	c.(583-585)GCC>GCT	p.A195A		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	195					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCTGCGCGCCGAGCCCTACC	0.647												
APC	324	broad.mit.edu	37	5	112173858	112173858	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:112173858G>A	uc010jby.2	+	16	2947	c.2567G>A	c.(2566-2568)CGC>CAC	p.R856H	APC_uc011cvt.1_Missense_Mutation_p.R838H|APC_uc003kpz.3_Missense_Mutation_p.R856H|APC_uc003kpy.3_Missense_Mutation_p.R856H|APC_uc010jbz.2_Missense_Mutation_p.R573H|APC_uc010jca.2_Missense_Mutation_p.R156H	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	856	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R856fs*6(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAGAGAACGCGGAATTGGT	0.443		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
KCNN2	3781	broad.mit.edu	37	5	113831808	113831808	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:113831808C>T	uc003kqo.2	+	8	2126	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W	KCNN2_uc003kqp.2_Missense_Mutation_p.R209W|KCNN2_uc010jcg.2_RNA|uc003kqr.1_RNA	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	557						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CAATGCTGAGCGGTCCCGGTC	0.527												
ZNF608	57507	broad.mit.edu	37	5	123982598	123982598	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:123982598G>A	uc003ktq.1	-	4	3602	c.3479C>T	c.(3478-3480)CCG>CTG	p.P1160L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P1160L|ZNF608_uc003ktt.1_Missense_Mutation_p.P1160L|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1160						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTTAGGCTCCGGAGTAGAGGG	0.463												
MEGF10	84466	broad.mit.edu	37	5	126769169	126769169	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:126769169C>T	uc003kuh.3	+	15	2170	c.1808C>T	c.(1807-1809)GCA>GTA	p.A603V	MEGF10_uc003kui.3_Missense_Mutation_p.A603V	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	603	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCGAGTGTGCACCAGGCTTC	0.547												
CHSY3	337876	broad.mit.edu	37	5	129243833	129243833	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:129243833C>G	uc003kvd.2	+	2	866	c.866C>G	c.(865-867)ACT>AGT	p.T289S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	289	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CTGGGACAGACTGGCCTGGGG	0.453												
LRRTM2	26045	broad.mit.edu	37	5	138210079	138210079	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138210079G>A	uc011cyz.1	-	2	628	c.171C>T	c.(169-171)AAC>AAT	p.N57N	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	57	Extracellular (Potential).|LRRNT.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTCTGTGGCGTTTGGCACTG	0.547												
CTNNA1	1495	broad.mit.edu	37	5	138266343	138266343	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138266343G>A	uc003ldh.2	+	15	2287	c.2192G>A	c.(2191-2193)CGA>CAA	p.R731Q	CTNNA1_uc011cyx.1_Missense_Mutation_p.R628Q|CTNNA1_uc011cyy.1_Missense_Mutation_p.R608Q|CTNNA1_uc003ldi.2_Missense_Mutation_p.R429Q|CTNNA1_uc003ldj.2_Missense_Mutation_p.R731Q|CTNNA1_uc003ldl.2_Missense_Mutation_p.R361Q	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	731					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577												
SLC23A1	9963	broad.mit.edu	37	5	138715404	138715404	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138715404G>A	uc003leh.2	-	8	985	c.888C>T	c.(886-888)ATC>ATT	p.I296I	SLC23A1_uc003leg.2_Silent_p.I300I	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	296					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAATAGCCATGATGTCACCAC	0.602												
PSD2	84249	broad.mit.edu	37	5	139189281	139189281	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:139189281G>T	uc003leu.1	+	2	461	c.256G>T	c.(256-258)GAC>TAC	p.D86Y		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	86					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGCCAGACTTGAACAT	0.617												
TMCO6	55374	broad.mit.edu	37	5	140021628	140021628	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140021628C>G	uc003lgl.2	+	4	589	c.488C>G	c.(487-489)TCA>TGA	p.S163*	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgm.2_Nonsense_Mutation_p.S163*|TMCO6_uc010jft.2_Intron|TMCO6_uc003lgn.2_Nonsense_Mutation_p.S54*|TMCO6_uc003lgo.2_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	163					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCACAGCTCAGACTTCATA	0.512												
IK	3550	broad.mit.edu	37	5	140039781	140039781	+	Splice_Site	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140039781G>A	uc003lgq.2	+	15	1465	c.1355_splice	c.e15+1	p.T452_splice		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein						cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAGCCACGTATGTGAAAC	0.443												
PCDHA3	56145	broad.mit.edu	37	5	140182211	140182211	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140182211G>A	uc003lhf.2	+	1	1429	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V477M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTTCACGGTGTCTGCGCG	0.667												
PCDHA8	56140	broad.mit.edu	37	5	140221632	140221632	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140221632C>T	uc003lhs.2	+	1	726	c.726C>T	c.(724-726)TTC>TTT	p.F242F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F242F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	242	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCACTTTCGAACAGTCTG	0.473												
PCDHA10	56139	broad.mit.edu	37	5	140237471	140237471	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140237471C>T	uc003lhx.2	+	1	1838	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A613V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGTCGGCGGCGGTTGGT	0.642												
PCDHA12	56137	broad.mit.edu	37	5	140257310	140257310	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140257310G>A	uc003lic.2	+	1	2380	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S751S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	751	5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGA	0.647												
PCDHB14	56122	broad.mit.edu	37	5	140604991	140604991	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140604991C>G	uc003ljb.2	+	1	1914	c.1914C>G	c.(1912-1914)CAC>CAG	p.H638Q	PCDHB14_uc011dal.1_Missense_Mutation_p.H485Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	638	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.701												
PCDHGB2	56103	broad.mit.edu	37	5	140740030	140740030	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140740030G>A	uc003ljs.1	+	1	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.A110T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	110	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATACTGTCGCTGAAAATCC	0.383												
PCDHGA5	56110	broad.mit.edu	37	5	140746185	140746185	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140746185C>T	uc003lju.1	+	1	2288	c.2288C>T	c.(2287-2289)TCG>TTG	p.S763L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.S763L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	763	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGACTCGAGGAAGAGT	0.582												
PCDHGA7	56108	broad.mit.edu	37	5	140763130	140763130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140763130C>T	uc003lka.1	+	1	664	c.664C>T	c.(664-666)CGA>TGA	p.R222*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.R222*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCGCCCCGATCCAGCAC	0.607												
PCDHGB4	8641	broad.mit.edu	37	5	140768795	140768795	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140768795G>A	uc003lkc.1	+	1	1344	c.1344G>A	c.(1342-1344)CCG>CCA	p.P448P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.P448P	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCTCCGGTTTTCTCAC	0.532												
PCDHGA8	9708	broad.mit.edu	37	5	140773876	140773876	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140773876C>T	uc003lkd.1	+	1	2394	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A499V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	499	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGGGGCGCCCCTGTCC	0.567												
PCDH12	51294	broad.mit.edu	37	5	141334608	141334608	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:141334608G>A	uc003llx.2	-	1	4020	c.2809C>T	c.(2809-2811)CGG>TGG	p.R937W		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	937	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACAGCCGGACCAGGCTC	0.612												
SPRY4	81848	broad.mit.edu	37	5	141694395	141694395	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:141694395G>A	uc003lml.2	-	2	538	c.279C>T	c.(277-279)AGC>AGT	p.S93S	SPRY4_uc010jgi.1_Silent_p.S116S	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	93					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCGCCCGCTGAAGGAGA	0.677									Testicular_Cancer_Familial_Clustering_of			
KCTD16	57528	broad.mit.edu	37	5	143853254	143853254	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:143853254C>T	uc003lnm.1	+	4	1493	c.864C>T	c.(862-864)TGC>TGT	p.C288C	KCTD16_uc003lnn.1_Silent_p.C288C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	288						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTCACACTGCGATTGCTGCT	0.522												
JAKMIP2	9832	broad.mit.edu	37	5	147029959	147029959	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:147029959C>T	uc003loq.1	-	4	1161	c.779G>A	c.(778-780)AGC>AAC	p.S260N	JAKMIP2_uc011dbx.1_Missense_Mutation_p.S218N|JAKMIP2_uc003lor.1_Missense_Mutation_p.S260N|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.S260N	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	260						Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGGGCTGCTCATGTT	0.483												
FBXO38	81545	broad.mit.edu	37	5	147818048	147818048	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:147818048G>A	uc003lpf.1	+	18	3131	c.3011G>A	c.(3010-3012)CGC>CAC	p.R1004H	FBXO38_uc003lpg.1_Missense_Mutation_p.R929H|FBXO38_uc003lph.2_Missense_Mutation_p.R759H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1004						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATACCTACGCCCAATGCAG	0.408												
SLC36A2	153201	broad.mit.edu	37	5	150718651	150718651	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:150718651G>A	uc003lty.2	-	5	625	c.495C>T	c.(493-495)TAC>TAT	p.Y165Y	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_Intron|SLC36A2_uc003lua.2_Intron|SLC36A2_uc010jhv.2_Silent_p.Y165Y|SLC36A2_uc011dct.1_Silent_p.Y165Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	165	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAACACAATGTACACACAGC	0.358												
FAT2	2196	broad.mit.edu	37	5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:150917383G>A	uc003lue.3	-	11	9177	c.9164C>T	c.(9163-9165)GCG>GTG	p.A3055V	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3055	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463												
C5orf54	63920	broad.mit.edu	37	5	159821572	159821572	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:159821572C>T	uc003lye.1	-	2	1390	c.926G>A	c.(925-927)CGC>CAC	p.R309H	C5orf54_uc003lyf.1_Missense_Mutation_p.R309H	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	309										pancreas(1)	1						ctgaaataggcgatgatttgg	0												
SLU7	10569	broad.mit.edu	37	5	159835380	159835380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:159835380G>A	uc003lyg.2	-	8	930	c.775C>T	c.(775-777)CGA>TGA	p.R259*		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	259					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTAATTCGTCTCTTGGAG	0.358												
MAT2B	27430	broad.mit.edu	37	5	162943693	162943693	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:162943693G>A	uc003lzk.2	+	5	804	c.696G>A	c.(694-696)CGG>CGA	p.R232R	MAT2B_uc003lzj.2_Silent_p.R221R|MAT2B_uc003lzl.1_Silent_p.R232R|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	232					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGTGTGCCGGCAGCTAGCAG	0.478												
ODZ2	57451	broad.mit.edu	37	5	167675370	167675370	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:167675370G>A	uc010jjd.2	+	27	7399	c.7399G>A	c.(7399-7401)GTG>ATG	p.V2467M	ODZ2_uc003lzr.3_Missense_Mutation_p.V2237M|ODZ2_uc003lzt.3_Missense_Mutation_p.V1840M|ODZ2_uc010jje.2_Missense_Mutation_p.V1731M	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAAGAACTACGTGACAGGTGA	0.517												
WWC1	23286	broad.mit.edu	37	5	167891734	167891734	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:167891734C>T	uc003lzu.2	+	21	3010	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	WWC1_uc003lzv.2_Missense_Mutation_p.P979S|WWC1_uc011den.1_Missense_Mutation_p.P979S|WWC1_uc003lzw.2_Missense_Mutation_p.P772S|WWC1_uc010jjf.1_Missense_Mutation_p.P245S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	973	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCCCCACAGCCTTCCTCGGT	0.587												
N4BP3	23138	broad.mit.edu	37	5	177548704	177548704	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:177548704A>C	uc003mik.1	+	5	1584	c.1337A>C	c.(1336-1338)GAC>GCC	p.D446A	N4BP3_uc003mil.1_Missense_Mutation_p.D115A	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	446	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGACTGATGACTGCAAGAGC	0.692												
HNRNPH1	3187	broad.mit.edu	37	5	179044892	179044892	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:179044892C>T	uc003mkf.3	-	8	935	c.829G>A	c.(829-831)GGG>AGG	p.G277R	HNRNPH1_uc011dgn.1_Missense_Mutation_p.G7R|HNRNPH1_uc003mkg.3_Missense_Mutation_p.G185R|HNRNPH1_uc003mke.3_Missense_Mutation_p.G277R|HNRNPH1_uc003mkh.3_Missense_Mutation_p.G277R	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	277	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						CCACCATCCCCGTATCTGTGA	0.418												
TBC1D9B	23061	broad.mit.edu	37	5	179306143	179306143	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:179306143G>A	uc003mlh.2	-	9	1508	c.1471C>T	c.(1471-1473)CGT>TGT	p.R491C	TBC1D9B_uc003mli.2_Missense_Mutation_p.R491C|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R491C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	491						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACGCCACGCCCGTACTCG	0.612												
GCNT2	2651	broad.mit.edu	37	6	10530035	10530035	+	Silent	SNP	C	C	T	rs150542637	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:10530035C>T	uc010joo.2	+	3	1442	c.891C>T	c.(889-891)GAC>GAT	p.D297D	GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.D296D|GCNT2_uc010jon.2_Silent_p.D296D	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	297	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACAGCCCCGACGAACATTTCT	0.473												
MBOAT1	154141	broad.mit.edu	37	6	20144502	20144502	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:20144502A>C	uc003ncx.1	-	4	573	c.368T>G	c.(367-369)ATC>AGC	p.I123S	MBOAT1_uc011dji.1_5'UTR	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	123					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATTCGGCTGATGTGGCATAT	0.353												
HIST1H2BA	255626	broad.mit.edu	37	6	25727363	25727363	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:25727363C>T	uc003nfd.2	+	1	227	c.227C>T	c.(226-228)GCG>GTG	p.A76V	HIST1H2AA_uc003nfc.2_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)	1						GAGCGTATAGCGAGCGAGGCA	0.502												
SLC17A4	10050	broad.mit.edu	37	6	25777084	25777084	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:25777084A>G	uc003nfe.2	+	10	1284	c.1165A>G	c.(1165-1167)AGA>GGA	p.R389G	SLC17A4_uc011djx.1_Missense_Mutation_p.R159G|SLC17A4_uc003nff.1_Missense_Mutation_p.R178G|SLC17A4_uc003nfg.2_Missense_Mutation_p.R326G|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	389					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						GCCCTGGGTCAGATCCAGCCA	0.537												
HIST1H2AD	3013	broad.mit.edu	37	6	26199464	26199464	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:26199464C>T	uc003ngw.2	-	1	8	c.8G>A	c.(7-9)GGA>GAA	p.G3E	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	3					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CTTGCCGCGTCCGGACATTTT	0.498												
HIST1H2BJ	8970	broad.mit.edu	37	6	27100413	27100413	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:27100413G>A	uc003niv.2	-	1	163	c.117C>T	c.(115-117)TCC>TCT	p.S39S	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	39					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACACATAGATGGAATAGCTCT	0.542												
HIST1H2AH	85235	broad.mit.edu	37	6	27115219	27115219	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:27115219G>A	uc003niz.2	+	1	312	c.312G>A	c.(310-312)GCG>GCA	p.A104A	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	104					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCACCATCGCGCAGGGTGGTG	0.562												
MDC1	9656	broad.mit.edu	37	6	30681832	30681832	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:30681832G>T	uc003nrg.3	-	3	705	c.265C>A	c.(265-267)CTC>ATC	p.L89I	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.L89I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	Interaction with the MRN complex.|FHA.|Interaction with CHEK2.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CAGTCTCGGAGGATAGGTGCC	0.522								Other_conserved_DNA_damage_response_genes				
MICB	4277	broad.mit.edu	37	6	31474135	31474135	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31474135C>T	uc003ntn.3	+	3	657	c.541C>T	c.(541-543)CGC>TGC	p.R181C	MICB_uc011dnm.1_Missense_Mutation_p.R149C|MICB_uc003nto.3_Missense_Mutation_p.R138C	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	181	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						GACACACTATCGCGCTATGCA	0.537												
BAT1	7919	broad.mit.edu	37	6	31500674	31500674	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31500674G>A	uc003ntt.2	-	7	1381	c.750C>T	c.(748-750)TTC>TTT	p.F250F	BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.F57F|BAT1_uc003nts.2_Silent_p.F250F|BAT1_uc011dnn.1_Silent_p.F172F|BAT1_uc003ntu.2_Silent_p.F250F|BAT1_uc003ntv.2_Silent_p.F250F	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	250					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						CATCATCCACGAAGATCTCCA	0.378												
DAXX	1616	broad.mit.edu	37	6	33288600	33288600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:33288600G>A	uc003oec.2	-	3	1156	c.952C>T	c.(952-954)CGA>TGA	p.R318*	ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Nonsense_Mutation_p.R243*|DAXX_uc011dre.1_Nonsense_Mutation_p.R330*|DAXX_uc003oed.2_Nonsense_Mutation_p.R318*|DAXX_uc010juw.2_Nonsense_Mutation_p.R243*	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	318					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CCCACATCTCGGAAGGCATCC	0.582			Mis|F|N		Pancreatic neuroendocrine tumors							
ZBTB9	221504	broad.mit.edu	37	6	33423758	33423758	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:33423758A>C	uc003oeq.2	+	2	1149	c.881A>C	c.(880-882)GAG>GCG	p.E294A		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGCCTAAGGAGGAGATATCA	0.537												
GRM4	2914	broad.mit.edu	37	6	34101001	34101001	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:34101001G>A	uc003oir.3	-	1	443	c.273C>T	c.(271-273)AAC>AAT	p.N91N	GRM4_uc011dsn.1_Silent_p.N91N|GRM4_uc010jvh.2_Silent_p.N91N|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc010jvk.1_Silent_p.N10N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	91	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGTCCGGGTCGTTGTTGATGC	0.622												
SCUBE3	222663	broad.mit.edu	37	6	35210956	35210956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:35210956C>T	uc003okf.1	+	15	1858	c.1852C>T	c.(1852-1854)CGA>TGA	p.R618*	SCUBE3_uc003okg.1_Nonsense_Mutation_p.R617*|SCUBE3_uc003okh.1_Nonsense_Mutation_p.R505*	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	618					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AGCCGGGGAGCGAGCAGAGCC	0.622												
ETV7	51513	broad.mit.edu	37	6	36339242	36339242	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:36339242G>T	uc003omb.2	-	5	678	c.529C>A	c.(529-531)CCT>ACT	p.P177T	ETV7_uc003olz.1_Missense_Mutation_p.P177T|ETV7_uc003oma.1_Missense_Mutation_p.P122T|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P122T|ETV7_uc010jwj.2_Missense_Mutation_p.P118T|ETV7_uc010jwh.2_Missense_Mutation_p.P96T|ETV7_uc010jwi.2_Intron|ETV7_uc011dtl.1_Missense_Mutation_p.P26T	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	177					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCCAGGCCAGGGTCATCCAGG	0.642												
DNAH8	1769	broad.mit.edu	37	6	38831683	38831683	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:38831683T>C	uc003ooe.1	+	43	6294	c.5694T>C	c.(5692-5694)GAT>GAC	p.D1898D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTGTTTTGATGAGTTTAACA	0.328												
FOXP4	116113	broad.mit.edu	37	6	41562613	41562613	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:41562613C>T	uc003oql.2	+	14	2000	c.1542C>T	c.(1540-1542)GCC>GCT	p.A514A	FOXP4_uc003oqm.2_Silent_p.A512A|FOXP4_uc003oqn.2_Silent_p.A501A	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	514	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CACAGAACGCCGTGCGCCACA	0.607											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ZNF318	24149	broad.mit.edu	37	6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:43325106G>A	uc003oux.2	-	3	1024	c.946C>T	c.(946-948)CGA>TGA	p.R316*	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316	Potential.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522												
ENPP4	22875	broad.mit.edu	37	6	46107818	46107818	+	Silent	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:46107818T>C	uc003oxy.2	+	2	757	c.498T>C	c.(496-498)AAT>AAC	p.N166N		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	166	Extracellular (Potential).					integral to membrane	hydrolase activity			ovary(3)|skin(1)	4						GACTAAATAATATTACTATGT	0.408												
TNFRSF21	27242	broad.mit.edu	37	6	47254169	47254169	+	Missense_Mutation	SNP	C	C	T	rs142206681	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:47254169C>T	uc003oyv.2	-	2	692	c.259G>A	c.(259-261)GTC>ATC	p.V87I		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	87	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			CTGCTGCAGACGCGCAGGCTT	0.537												
PGK2	5232	broad.mit.edu	37	6	49754076	49754076	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:49754076C>A	uc003ozu.2	-	1	932	c.825G>T	c.(823-825)AAG>AAT	p.K275N		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	275					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					TTACACCATTCTTTTGTGCTT	0.428												
BMP5	653	broad.mit.edu	37	6	55623807	55623807	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:55623807G>A	uc003pcq.2	-	6	1923	c.1211C>T	c.(1210-1212)ACT>ATT	p.T404I	BMP5_uc011dxf.1_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	404					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTACCAGAGTCTGAACTAT	0.348												
EYS	346007	broad.mit.edu	37	6	66044985	66044985	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:66044985A>G	uc011dxu.1	-	11	2192	c.1654T>C	c.(1654-1656)TAT>CAT	p.Y552H	EYS_uc003peq.2_Missense_Mutation_p.Y552H|EYS_uc003per.1_Missense_Mutation_p.Y552H	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	552					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AAACATAGATACCGATATTCC	0.353												
DOPEY1	23033	broad.mit.edu	37	6	83845559	83845559	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:83845559G>A	uc003pjs.1	+	20	3352	c.3092G>A	c.(3091-3093)AGT>AAT	p.S1031N	DOPEY1_uc011dyy.1_Missense_Mutation_p.S1022N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1022N|DOPEY1_uc003pjt.2_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1031					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGAGGAGAGTGACAAGCAT	0.378												
SFRS13B	135295	broad.mit.edu	37	6	89808605	89808605	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:89808605G>A	uc003pmy.3	-	5	672	c.478C>T	c.(478-480)CGG>TGG	p.R160W		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	serine-arginine repressor protein	160	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding				0						GAGGTAGACCGCCTTGGTAAT	0.438												
UBE2J1	51465	broad.mit.edu	37	6	90052126	90052126	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:90052126C>T	uc010kcb.2	-	4	327	c.154G>A	c.(154-156)GAT>AAT	p.D52N	UBE2J1_uc003pnc.2_Missense_Mutation_p.D52N	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	52	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCATCAAAATCGGAGTCTGGG	0.403												
FUT9	10690	broad.mit.edu	37	6	96652014	96652014	+	Missense_Mutation	SNP	G	G	A	rs142793962		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:96652014G>A	uc003pop.3	+	3	1324	c.983G>A	c.(982-984)CGA>CAA	p.R328Q		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	328	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.R328Q(1)		skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATCTTCCACGATTTTGGGAA	0.358												
SOBP	55084	broad.mit.edu	37	6	107854724	107854724	+	Silent	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:107854724C>A	uc003prx.2	+	4	987	c.483C>A	c.(481-483)CGC>CGA	p.R161R	SOBP_uc003prw.1_Silent_p.R161R	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	161	FCS-type 1.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAATCAAGCGCTATTCCCTGA	0.428												
REV3L	5980	broad.mit.edu	37	6	111654417	111654417	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:111654417C>T	uc003puy.3	-	23	8157	c.7834G>A	c.(7834-7836)GTT>ATT	p.V2612I	REV3L_uc003pux.3_Missense_Mutation_p.V2534I|REV3L_uc003puz.3_Missense_Mutation_p.V2534I|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2612					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAATCCAAAACGAGAACAGAG	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FYN	2534	broad.mit.edu	37	6	112024133	112024133	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:112024133G>A	uc003pvj.2	-	7	992	c.652C>T	c.(652-654)CGG>TGG	p.R218W	FYN_uc003pvi.2_Missense_Mutation_p.R218W|FYN_uc003pvk.2_Missense_Mutation_p.R218W|FYN_uc003pvh.2_Missense_Mutation_p.R218W|FYN_uc010kdy.1_Missense_Mutation_p.R24W	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	218	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AACTGGGCCCGGGTGGTAATG	0.408												
C6orf174	387104	broad.mit.edu	37	6	127796885	127796885	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:127796885G>A	uc003qbd.2	-	6	3151	c.2286C>T	c.(2284-2286)AGC>AGT	p.S762S	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	762						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGTCGTCGTCGCTCTCCTTCT	0.701												
PERP	64065	broad.mit.edu	37	6	138428376	138428376	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:138428376G>A	uc003qht.2	-	1	285	c.102C>T	c.(100-102)GGC>GGT	p.G34G		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	34					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		ACTGCAACCAGCCGCGGCCGG	0.692												
SYNE1	23345	broad.mit.edu	37	6	152708388	152708388	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:152708388T>G	uc010kiw.2	-	54	8908	c.8306A>C	c.(8305-8307)AAG>ACG	p.K2769T	SYNE1_uc003qot.3_Missense_Mutation_p.K2776T|SYNE1_uc003qou.3_Missense_Mutation_p.K2769T|SYNE1_uc010kjb.1_Missense_Mutation_p.K2752T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2769	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGACGAACTTCTCTTTCAG	0.483										HNSCC(10;0.0054)		
PLG	5340	broad.mit.edu	37	6	161135924	161135924	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:161135924G>T	uc003qtm.3	+	6	709	c.646G>T	c.(646-648)GCT>TCT	p.A216S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	216	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCCCACACGCTCATGGATA	0.443												
MAP3K4	4216	broad.mit.edu	37	6	161523007	161523007	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:161523007C>A	uc003qtn.2	+	18	3900	c.3758C>A	c.(3757-3759)CCC>CAC	p.P1253H	MAP3K4_uc010kkc.1_Missense_Mutation_p.P1249H|MAP3K4_uc003qto.2_Missense_Mutation_p.P1203H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.P706H|MAP3K4_uc003qtp.2_Missense_Mutation_p.P189H|MAP3K4_uc003qtq.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1253					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTCAAGCCCCACGGAGGAG	0.438												
PSMB1	5689	broad.mit.edu	37	6	170858188	170858188	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:170858188T>A	uc011ehe.1	-	2	214	c.127A>T	c.(127-129)ATT>TTT	p.I43F	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'UTR	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	TCTCCAGCAATTGCCAGTATA	0.368												
PRKAR1B	5575	broad.mit.edu	37	7	751062	751062	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:751062G>A	uc003siu.1	-	3	187	c.81C>T	c.(79-81)ATC>ATT	p.I27I	PRKAR1B_uc003siv.2_Silent_p.I27I|PRKAR1B_uc003siw.1_Silent_p.I27I	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	27	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGACCTGCTGGATCCCGTGCA	0.632												
AMZ1	155185	broad.mit.edu	37	7	2749293	2749293	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:2749293G>A	uc003smr.1	+	6	1152	c.791G>A	c.(790-792)TGC>TAC	p.C264Y	AMZ1_uc003sms.1_Silent_p.L207L|AMZ1_uc011jwa.1_Missense_Mutation_p.C13Y	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	264							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CACGAGCTCTGCCACCTTCTG	0.706											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FSCN1	6624	broad.mit.edu	37	7	5633137	5633137	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:5633137C>T	uc003sou.2	+	1	684	c.570C>T	c.(568-570)ACC>ACT	p.T190T		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	190					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GCGTGCAGACCGCCGACCACC	0.736												
SP8	221833	broad.mit.edu	37	7	20824584	20824584	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:20824584G>A	uc003suy.2	-	3	1039	c.798C>T	c.(796-798)GGC>GGT	p.G266G	SP8_uc003suz.2_Silent_p.G284G	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						GCGAGGAGGCGCCGCTGCTGA	0.706												
SP4	6671	broad.mit.edu	37	7	21470090	21470090	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:21470090T>C	uc003sva.2	+	3	1488	c.1307T>C	c.(1306-1308)ATC>ACC	p.I436T	SP4_uc003svb.2_Missense_Mutation_p.I123T	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	436					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						ATTCAGACCATCCAGCAGCAG	0.478												
CCDC126	90693	broad.mit.edu	37	7	23651149	23651149	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:23651149A>G	uc003swl.2	+	3	672	c.215A>G	c.(214-216)AAC>AGC	p.N72S	CCDC126_uc003swm.2_Missense_Mutation_p.N72S|CCDC126_uc003swn.2_Missense_Mutation_p.N72S	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126 precursor	72						extracellular region				ovary(1)|skin(1)	2						GATGTCGAGAACGGTGCTTCT	0.368												
CCDC129	223075	broad.mit.edu	37	7	31682938	31682938	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:31682938T>C	uc003tcj.1	+	11	2947	c.1954T>C	c.(1954-1956)TAT>CAT	p.Y652H	CCDC129_uc011kad.1_Missense_Mutation_p.Y662H|CCDC129_uc003tci.1_Missense_Mutation_p.Y503H|CCDC129_uc011kae.1_Missense_Mutation_p.Y678H|CCDC129_uc003tck.1_Missense_Mutation_p.Y560H	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	652											0						AATCACACCTTATGCAACTGA	0.488												
NPSR1	387129	broad.mit.edu	37	7	34867042	34867042	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:34867042G>A	uc003teg.1	+	5	636	c.508G>A	c.(508-510)GCC>ACC	p.A170T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.A170T|NPSR1_uc010kwt.1_Missense_Mutation_p.A17T|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.A104T|NPSR1_uc003tei.1_Missense_Mutation_p.A170T|NPSR1_uc010kww.1_Missense_Mutation_p.A159T|NPSR1_uc011kar.1_Missense_Mutation_p.A104T|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	170	Helical; Name=4; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CATTGTGATCGCCTGGAGCCT	0.512												
NPSR1	387129	broad.mit.edu	37	7	34888209	34888209	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:34888209C>T	uc003teg.1	+	8	1087	c.959C>T	c.(958-960)GCA>GTA	p.A320V	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.A320V|NPSR1_uc010kwt.1_Missense_Mutation_p.A167V|NPSR1_uc010kwu.1_Missense_Mutation_p.A110V|NPSR1_uc010kwv.1_Missense_Mutation_p.A254V|NPSR1_uc003tei.1_Missense_Mutation_p.A320V|NPSR1_uc010kww.1_Missense_Mutation_p.A309V|NPSR1_uc011kar.1_Missense_Mutation_p.A254V	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	320	Helical; Name=7; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	AACCTGCCAGCATTGAATAGT	0.498												
ANLN	54443	broad.mit.edu	37	7	36447449	36447449	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:36447449C>T	uc003tff.2	+	5	1184	c.980C>T	c.(979-981)ACG>ATG	p.T327M	ANLN_uc011kaz.1_Missense_Mutation_p.T239M|ANLN_uc003tfg.2_Missense_Mutation_p.T327M|ANLN_uc010kxe.2_Missense_Mutation_p.T327M	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	327	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CCTCTGAAAACGGGGGTATCG	0.393												
INHBA	3624	broad.mit.edu	37	7	41729812	41729812	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:41729812G>A	uc003thq.2	-	2	952	c.717C>T	c.(715-717)GAC>GAT	p.D239D	INHBA_uc003thr.2_Silent_p.D239D	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	239					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						CAATCCGAACGTCCAGGGAGC	0.468										TSP Lung(11;0.080)		
STK17A	9263	broad.mit.edu	37	7	43647881	43647881	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:43647881A>T	uc003tih.2	+	3	597	c.446A>T	c.(445-447)CAG>CTG	p.Q149L		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	149	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						ATCTTTGACCAGTGTGTTGCA	0.373												
ADCY1	107	broad.mit.edu	37	7	45614596	45614596	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:45614596G>A	uc003tne.3	+	1	472	c.454G>A	c.(454-456)GCC>ACC	p.A152T	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	152					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ttccgccggggccgctggggg	0.507												
TNS3	64759	broad.mit.edu	37	7	47409180	47409180	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:47409180C>T	uc003tnv.2	-	17	1430	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T	TNS3_uc003tnw.2_Missense_Mutation_p.A355T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	355						focal adhesion	protein binding			ovary(4)	4						CTCACCTTCGCGTAAAGGCTG	0.607												
SUMF2	25870	broad.mit.edu	37	7	56136300	56136300	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:56136300G>A	uc003trv.2	+	2	281	c.250G>A	c.(250-252)GAC>AAC	p.D84N	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Missense_Mutation_p.D84N|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.D84N|SUMF2_uc011kcx.1_Missense_Mutation_p.D84N|SUMF2_uc003trt.2_Intron|SUMF2_uc011kcy.1_Missense_Mutation_p.D84N|SUMF2_uc011kcz.1_Missense_Mutation_p.D84N|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	65						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTGCCATCGACATATTTCC	0.453												
GUSB	2990	broad.mit.edu	37	7	65444796	65444796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:65444796G>A	uc003tun.2	-	3	575	c.499C>T	c.(499-501)CGA>TGA	p.R167*	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	167					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						ATAGTGATTCGGAGCCGGGAG	0.622												
AUTS2	26053	broad.mit.edu	37	7	70255373	70255373	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:70255373C>T	uc003tvw.3	+	19	3914	c.3171C>T	c.(3169-3171)GGC>GGT	p.G1057G	AUTS2_uc003tvx.3_Silent_p.G1033G|AUTS2_uc011keg.1_Silent_p.G509G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1057										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCTCCCGGGCGGAGAGCGCT	0.627												
POM121	9883	broad.mit.edu	37	7	72418920	72418920	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:72418920C>A	uc010lam.1	+	16	3952	c.2911C>A	c.(2911-2913)CTT>ATT	p.L971I	NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_3'UTR|NSUN5P2_uc003twn.2_3'UTR|NSUN5P2_uc003two.2_3'UTR|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				ACCCAATAACCTTTCAAAACG	0.527												
NCF1	653361	broad.mit.edu	37	7	74197373	74197373	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:74197373C>T	uc003ubb.2	+	6	613	c.543C>T	c.(541-543)GAC>GAT	p.D181D	NCF1_uc010lbs.1_Silent_p.D181D|NCF1_uc011kfh.1_Missense_Mutation_p.R101C	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	181	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						CCACGGGGGACGTGGTGGAGG	0.642												
RUNDC3B	154661	broad.mit.edu	37	7	87258228	87258228	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:87258228C>T	uc003ujb.2	+	1	500	c.89C>T	c.(88-90)GCG>GTG	p.A30V	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.A30V|RUNDC3B_uc011khe.1_Missense_Mutation_p.A30V|RUNDC3B_uc003ujc.2_Missense_Mutation_p.A30V	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	30										skin(1)	1	Esophageal squamous(14;0.00164)					CGCAATGCTGCGGTGGAGAGG	0.726												
CLDN12	9069	broad.mit.edu	37	7	90042012	90042012	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:90042012G>A	uc003ukp.2	+	5	658	c.22G>A	c.(22-24)GCA>ACA	p.A8T	CLDN12_uc003ukq.2_Missense_Mutation_p.A8T|CLDN12_uc010leq.2_Missense_Mutation_p.A8T|CLDN12_uc003ukr.2_Missense_Mutation_p.A8T|CLDN12_uc003uks.2_Missense_Mutation_p.A8T	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	8	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGATGTCCACGCAGCCACAGT	0.522												
LMTK2	22853	broad.mit.edu	37	7	97823250	97823250	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:97823250G>A	uc003upd.1	+	11	3766	c.3473G>A	c.(3472-3474)AGC>AAC	p.S1158N		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1158					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCAGAAAGAGCCAGCCAGAT	0.592												
AGFG2	3268	broad.mit.edu	37	7	100153232	100153232	+	Splice_Site	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100153232G>A	uc003uvf.2	+	6	888	c.752_splice	c.e6-1	p.G251_splice	AGFG2_uc003uvg.1_Splice_Site_p.W144_splice|AGFG2_uc010lgy.2_Splice_Site_p.A113_splice	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						TCCACCTACAGGCCAGACACC	0.338												
SLC12A9	56996	broad.mit.edu	37	7	100457805	100457805	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100457805G>A	uc003uwp.2	+	9	1311	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q	SLC12A9_uc003uwq.2_Missense_Mutation_p.R301Q|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.R126Q|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.R126Q|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	390	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTGTGTCCCGAGGGGGAAAC	0.597												
MUC17	140453	broad.mit.edu	37	7	100684965	100684965	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100684965C>A	uc003uxp.1	+	3	10321	c.10268C>A	c.(10267-10269)CCT>CAT	p.P3423H	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3423	Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTGGACTCC	0.502												
CUX1	1523	broad.mit.edu	37	7	101845023	101845023	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:101845023C>T	uc003uyx.3	+	18	2484	c.2446C>T	c.(2446-2448)CGC>TGC	p.R816C	CUX1_uc003uys.3_Missense_Mutation_p.R827C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	816					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGAGGTGGGCCGCAGCGGTGC	0.672												
C7orf53	286006	broad.mit.edu	37	7	112127027	112127027	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:112127027C>T	uc011kmq.1	+	3	312	c.177C>T	c.(175-177)AGC>AGT	p.S59S	C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.S59S	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	59						integral to membrane				ovary(1)	1						GAAATGGAAGCCGGAGTCTGT	0.418												
ASZ1	136991	broad.mit.edu	37	7	117067496	117067496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:117067496G>A	uc003vjb.2	-	1	82	c.19C>T	c.(19-21)CGA>TGA	p.R7*	ASZ1_uc011kno.1_Nonsense_Mutation_p.R7*|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	7					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGCAGGCCTCGCAGCGCGCTC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ASZ1	136991	broad.mit.edu	37	7	117067501	117067501	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:117067501G>C	uc003vjb.2	-	1	77	c.14C>G	c.(13-15)GCG>GGG	p.A5G	ASZ1_uc011kno.1_Missense_Mutation_p.A5G|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	5					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCCTCGCAGCGCGCTCGCCGC	0.687											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ASB15	142685	broad.mit.edu	37	7	123269054	123269054	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:123269054A>G	uc003vku.1	+	10	1298	c.1006A>G	c.(1006-1008)ACT>GCT	p.T336A	ASB15_uc003vkw.1_Missense_Mutation_p.T336A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	336	ANK 6.				intracellular signal transduction					skin(2)|lung(1)	3						TGATGTCAACACTCTACTTGC	0.433												
ASB15	142685	broad.mit.edu	37	7	123269134	123269134	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:123269134C>T	uc003vku.1	+	10	1378	c.1086C>T	c.(1084-1086)GAC>GAT	p.D362D	ASB15_uc003vkw.1_Silent_p.D362D	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	362	ANK 7.				intracellular signal transduction					skin(2)|lung(1)	3						CTAATAATGACGTTCATTGCA	0.438												
FLNC	2318	broad.mit.edu	37	7	128470896	128470896	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:128470896C>T	uc003vnz.3	+	1	414	c.205C>T	c.(205-207)CGG>TGG	p.R69W	FLNC_uc003voa.3_Missense_Mutation_p.R69W	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	69	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGACGGGCTCCGGCTCATCGC	0.622												
CPA4	51200	broad.mit.edu	37	7	129948150	129948150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:129948150C>T	uc003vpr.2	+	8	753	c.706C>T	c.(706-708)CGA>TGA	p.R236*	CPA4_uc011kpd.1_Nonsense_Mutation_p.R203*|CPA4_uc011kpe.1_Nonsense_Mutation_p.R132*	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	236					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTTTCAGAACCGATTATGGAG	0.557												
AKR1B10	57016	broad.mit.edu	37	7	134223007	134223007	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:134223007C>T	uc003vrr.2	+	8	1123	c.803C>T	c.(802-804)GCA>GTA	p.A268V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	268	NADP.				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						GTGACACCAGCACGCATTGTT	0.532												
C7orf49	78996	broad.mit.edu	37	7	134851523	134851523	+	Missense_Mutation	SNP	C	C	T	rs10237382		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:134851523C>T	uc003vsl.2	-	4	581	c.314G>A	c.(313-315)GGG>GAG	p.G105E	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.G76E|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.G104E|C7orf49_uc003vso.2_Missense_Mutation_p.G50E	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	105						cytoplasm				large_intestine(1)|ovary(1)	2						ACTGCTGCTCCCAGAACTTGT	0.652												
TRIM24	8805	broad.mit.edu	37	7	138269680	138269680	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:138269680G>A	uc003vuc.2	+	19	3352	c.3137G>A	c.(3136-3138)CGC>CAC	p.R1046H	TRIM24_uc003vub.2_Missense_Mutation_p.R1012H	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	1046					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						ATTGAAGAACGCCAGTTGCTT	0.343												
MGAM	8972	broad.mit.edu	37	7	141721431	141721431	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:141721431G>A	uc003vwy.2	+	6	658	c.604G>A	c.(604-606)GTG>ATG	p.V202M		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	202	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCACGAACACGTGCAGTCCTT	0.438												
TRPV6	55503	broad.mit.edu	37	7	142583219	142583219	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:142583219G>T	uc003wbx.1	-	1	259	c.43C>A	c.(43-45)CTA>ATA	p.L15I		NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	15	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					TTGCTCCATAGGCAGAGAATT	0.617												
ZNF786	136051	broad.mit.edu	37	7	148767808	148767808	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:148767808G>A	uc003wfh.2	-	4	2193	c.2056C>T	c.(2056-2058)CGC>TGC	p.R686C	ZNF786_uc011kuk.1_Missense_Mutation_p.R649C|ZNF786_uc003wfi.2_Missense_Mutation_p.R600C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	686	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCCTTCAGGCGGAAACTCTTG	0.557												
ZNF786	136051	broad.mit.edu	37	7	148768294	148768295	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:148768294_148768295GC>AA	uc003wfh.2	-	4	1706_1707	c.1569_1570GC>TT	c.(1567-1572)AAGCTC>AATTTC	p.523_524KL>NF	ZNF786_uc011kuk.1_Missense_Mutation_p.486_487KL>NF|ZNF786_uc003wfi.2_Missense_Mutation_p.437_438KL>NF	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	523_524	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTCACGGAGCTTGCACTGGT	0.653												
ZNF777	27153	broad.mit.edu	37	7	149129661	149129661	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:149129661G>A	uc003wfv.2	-	6	1865	c.1702C>T	c.(1702-1704)CAC>TAC	p.H568Y		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	568	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCCTTGATGTGGTTGCGCTGG	0.647												
GIMAP8	155038	broad.mit.edu	37	7	150164346	150164346	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150164346G>A	uc003whj.2	+	2	890	c.560G>A	c.(559-561)CGC>CAC	p.R187H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	187						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGCTCCTTCGCAAGGTTGAG	0.433												
MLL3	58508	broad.mit.edu	37	7	152007084	152007084	+	Silent	SNP	G	G	A	rs143544942	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:152007084G>A	uc003wla.2	-	6	1035	c.816C>T	c.(814-816)AAC>AAT	p.N272N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	272					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTTGTCCACGTTCACTAACA	0.393			N		medulloblastoma							
DPP6	1804	broad.mit.edu	37	7	154585857	154585857	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:154585857C>T	uc003wlk.2	+	11	1334	c.1205C>T	c.(1204-1206)GCG>GTG	p.A402V	DPP6_uc003wli.2_Missense_Mutation_p.A338V|DPP6_uc003wlm.2_Missense_Mutation_p.A340V|DPP6_uc011kvq.1_Missense_Mutation_p.A295V	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	402	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGAACCGGGCGCAGAACGTG	0.632												
DPP6	1804	broad.mit.edu	37	7	154598810	154598810	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:154598810C>T	uc003wlk.2	+	16	1783	c.1654C>T	c.(1654-1656)CTC>TTC	p.L552F	DPP6_uc003wli.2_Missense_Mutation_p.L488F|DPP6_uc003wlm.2_Missense_Mutation_p.L490F|DPP6_uc011kvq.1_Missense_Mutation_p.L445F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	552	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTTCTTCCTGCTCAAGTGCGA	0.607												
ARHGEF10	9639	broad.mit.edu	37	8	1893747	1893747	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:1893747G>A	uc003wpr.2	+	27	3501	c.3323G>A	c.(3322-3324)CGC>CAC	p.R1108H	ARHGEF10_uc003wps.2_Missense_Mutation_p.R1070H|ARHGEF10_uc010lre.2_Missense_Mutation_p.R759H	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1133					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCACGCTCCGCCTTTTTCAC	0.622												
PINX1	54984	broad.mit.edu	37	8	10623027	10623027	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:10623027G>A	uc003wth.2	-	7	904	c.871C>T	c.(871-873)CTG>TTG	p.L291L	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	291	TBM.|Telomerase inhibitory domain (TID).			L->A: Abolishes interaction with TERF1.	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTGGGCTTCAGGGTGAAGTCC	0.537												
XKR6	286046	broad.mit.edu	37	8	11058331	11058331	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:11058331G>A	uc003wtk.1	-	1	545	c.518C>T	c.(517-519)TCG>TTG	p.S173L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	173	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CACCAGCAGCGACGGCACCAG	0.692												
FGL1	2267	broad.mit.edu	37	8	17722224	17722224	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:17722224G>T	uc003wxx.2	-	9	1140	c.816C>A	c.(814-816)AGC>AGA	p.S272R	FGL1_uc003wxy.2_Missense_Mutation_p.S272R|FGL1_uc003wxz.2_Missense_Mutation_p.S271R|FGL1_uc003wya.2_Missense_Mutation_p.S272R|FGL1_uc003wyb.2_Missense_Mutation_p.S272R|FGL1_uc003wyc.2_Missense_Mutation_p.S272R|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.S322R|FGL1_uc003wyf.2_Missense_Mutation_p.S242R	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	272	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGTAGGGGCCGCTGTAGTATA	0.428												
ATP6V1B2	526	broad.mit.edu	37	8	20077788	20077788	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:20077788C>T	uc003wzp.2	+	14	1625	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	ATP6V1B2_uc003wzq.1_RNA	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	471					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTACGAAAATCGCACTGTCTT	0.393												
EGR3	1960	broad.mit.edu	37	8	22548121	22548121	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:22548121C>T	uc003xcm.1	-	2	1387	c.1029G>A	c.(1027-1029)GCG>GCA	p.A343A	EGR3_uc011kzn.1_Silent_p.A305A|EGR3_uc011kzo.1_Silent_p.A289A	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	343	C2H2-type 3.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGTCGCTGCGCGCAAACTTGC	0.652												
ENTPD4	9583	broad.mit.edu	37	8	23290496	23290496	+	Silent	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:23290496G>C	uc003xdl.2	-	13	1958	c.1794C>G	c.(1792-1794)GCC>GCG	p.A598A	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.A590A	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	598	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGAGGGCGGCGGCCGAGCTGC	0.642												
C8orf80	389643	broad.mit.edu	37	8	27922054	27922054	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:27922054G>A	uc003xgm.3	-	7	1049	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	302						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TCCACATCTCGTCCCTCTTGC	0.493												
HMBOX1	79618	broad.mit.edu	37	8	28908656	28908656	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:28908656C>T	uc003xhd.3	+	10	1589	c.1247C>T	c.(1246-1248)GCC>GTC	p.A416V	HMBOX1_uc003xhc.3_Intron|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.A416V|HMBOX1_uc011lay.1_Missense_Mutation_p.A439V|HMBOX1_uc003xhf.2_Missense_Mutation_p.A402V|HMBOX1_uc003xhg.2_3'UTR	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	416					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAGACAGAGGCCCTGGATGAT	0.473												
WRN	7486	broad.mit.edu	37	8	30977901	30977901	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:30977901G>A	uc003xio.3	+	21	3379	c.2591G>A	c.(2590-2592)TGT>TAT	p.C864Y	WRN_uc010lvk.2_Missense_Mutation_p.C331Y	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	864	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAAGTTCTTGTCACGTCCTC	0.388			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
RAB11FIP1	80223	broad.mit.edu	37	8	37732311	37732311	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:37732311C>A	uc003xkm.1	-	3	1388	c.1344G>T	c.(1342-1344)AAG>AAT	p.K448N	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.K296N|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.K448N|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.K296N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	448					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCACTGCCCTTAGCCACAT	0.572												
FGFR1	2260	broad.mit.edu	37	8	38275752	38275752	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38275752C>T	uc003xlp.2	-	11	2366	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R473Q|FGFR1_uc011lbp.1_Missense_Mutation_p.R386Q|FGFR1_uc011lbq.1_Missense_Mutation_p.R384Q|FGFR1_uc010lwk.2_Missense_Mutation_p.R465Q	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	475	Cytoplasmic (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTACCTGTCCCGAGGCAGCTC	0.532		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
PLEKHA2	59339	broad.mit.edu	37	8	38810883	38810883	+	Silent	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38810883T>G	uc003xmi.3	+	9	1005	c.771T>G	c.(769-771)TCT>TCG	p.S257S	PLEKHA2_uc011lce.1_Silent_p.S207S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	257	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TGGTCAAGTCTGGGTAATTGT	0.428												
HTRA4	203100	broad.mit.edu	37	8	38832633	38832633	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38832633G>A	uc003xmj.2	+	2	665	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	184					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GGTGGTTCACGTGCAGCTGTG	0.577												
SNAI2	6591	broad.mit.edu	37	8	49833819	49833819	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:49833819C>T	uc003xqp.2	-	1	170	c.6G>A	c.(4-6)CCG>CCA	p.P2P		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	2					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGAAGGAGCGCGGCATCTTGC	0.592												
RB1CC1	9821	broad.mit.edu	37	8	53548618	53548618	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:53548618T>C	uc003xre.3	-	19	4907	c.4349A>G	c.(4348-4350)CAT>CGT	p.H1450R	RB1CC1_uc003xrf.3_Missense_Mutation_p.H1450R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1450	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGACAACATATGAATATTTTC	0.269												
CHD7	55636	broad.mit.edu	37	8	61763086	61763086	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:61763086C>T	uc003xue.2	+	26	5916	c.5439C>T	c.(5437-5439)CCC>CCT	p.P1813P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1813					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGCTGACCCCGCGCTGTGCT	0.542												
ASPH	444	broad.mit.edu	37	8	62415991	62415991	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:62415991C>T	uc003xuj.2	-	25	2473	c.2204G>A	c.(2203-2205)CGG>CAG	p.R735Q	ASPH_uc011leg.1_Missense_Mutation_p.R706Q	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	735	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATATCAGCCGGAAAGATGA	0.507												
TRPA1	8989	broad.mit.edu	37	8	72945932	72945932	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:72945932C>A	uc003xza.2	-	23	2990	c.2815G>T	c.(2815-2817)GCA>TCA	p.A939S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	939	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ACAAGTTGTGCAAAGGACAGA	0.353												
TRPA1	8989	broad.mit.edu	37	8	72948688	72948688	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:72948688C>A	uc003xza.2	-	21	2565	c.2390G>T	c.(2389-2391)AGG>ATG	p.R797M	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	797	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAAATAATTCCTTTTCTGGGA	0.348												
GDAP1	54332	broad.mit.edu	37	8	75276516	75276516	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:75276516G>A	uc003yah.2	+	6	1070	c.991G>A	c.(991-993)GGA>AGA	p.G331R	GDAP1_uc011lfj.1_Missense_Mutation_p.G216R|GDAP1_uc003yai.2_Missense_Mutation_p.G263R	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	331						cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCTTGCAGGAGTGGGATA	0.443												
DCAF4L2	138009	broad.mit.edu	37	8	88885496	88885496	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:88885496A>G	uc003ydz.2	-	1	801	c.704T>C	c.(703-705)ATG>ACG	p.M235T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	235										ovary(1)	1						CAAAGGAGTCATGATTGCAAA	0.537												
LRP12	29967	broad.mit.edu	37	8	105503644	105503644	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:105503644G>A	uc003yma.2	-	7	1932	c.1837C>T	c.(1837-1839)CGT>TGT	p.R613C	LRP12_uc003ymb.2_Missense_Mutation_p.R594C|LRP12_uc003ylz.2_Missense_Mutation_p.R19C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	613	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGAATGACGTGATCTTGCA	0.453												
PKHD1L1	93035	broad.mit.edu	37	8	110477474	110477474	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:110477474G>T	uc003yne.2	+	49	8517	c.8413G>T	c.(8413-8415)GGG>TGG	p.G2805W		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2805	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCACTTACAGGTAATGTTAT	0.284										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113529433	113529433	+	Missense_Mutation	SNP	C	C	T	rs138068999		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:113529433C>T	uc003ynu.2	-	28	4745	c.4586G>A	c.(4585-4587)CGT>CAT	p.R1529H	CSMD3_uc003yns.2_Missense_Mutation_p.R801H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1489H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1425H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1529	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCCTGGGTCACGACACGCAGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
NOV	4856	broad.mit.edu	37	8	120435322	120435322	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:120435322G>T	uc003yoq.2	+	5	1245	c.1024G>T	c.(1024-1026)GAG>TAG	p.E342*		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	342					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAGAACAATGAGGCCTTCCT	0.532												
COL14A1	7373	broad.mit.edu	37	8	121292217	121292217	+	Silent	SNP	G	G	A	rs78388021	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:121292217G>A	uc003yox.2	+	29	3790	c.3525G>A	c.(3523-3525)TCG>TCA	p.S1175S	COL14A1_uc003yoz.2_Silent_p.S140S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1175	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGATTACTCGGAGTTGGTTA	0.408												
ATAD2	29028	broad.mit.edu	37	8	124338217	124338217	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124338217C>T	uc003yqh.3	-	26	4026	c.3918G>A	c.(3916-3918)CAG>CAA	p.Q1306Q	ATAD2_uc011lii.1_Silent_p.Q1097Q|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAGCTGCTGCTGTTCTACCT	0.378												
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124382167A>T	uc003yqh.3	-	7	933	c.825T>A	c.(823-825)GAT>GAA	p.D275E	ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.179												
WDYHV1	55093	broad.mit.edu	37	8	124449545	124449545	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124449545C>T	uc003yqn.1	+	5	604	c.479C>T	c.(478-480)CCG>CTG	p.P160L	WDYHV1_uc011lij.1_Missense_Mutation_p.P100L|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	160					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						AGAGAGCCTCCGCCGCCATAT	0.468												
ANXA13	312	broad.mit.edu	37	8	124696923	124696923	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124696923C>T	uc003yqu.2	-	10	831	c.758G>A	c.(757-759)CGT>CAT	p.R253H	ANXA13_uc003yqt.2_Missense_Mutation_p.R294H	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	253					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTGTACAGACGTTCAGCAAA	0.517												
FAM91A1	157769	broad.mit.edu	37	8	124810440	124810440	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124810440A>G	uc003yqv.2	+	16	1583	c.1522A>G	c.(1522-1524)ACC>GCC	p.T508A	FAM91A1_uc011lik.1_Missense_Mutation_p.T508A|FAM91A1_uc011lil.1_Missense_Mutation_p.T266A	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	508										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGCTCCCCTCACCAATGAAAT	0.478												
TG	7038	broad.mit.edu	37	8	134025948	134025948	+	Silent	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:134025948G>T	uc003ytw.2	+	37	6542	c.6501G>T	c.(6499-6501)CTG>CTT	p.L2167L	TG_uc010mdw.2_Silent_p.L926L|TG_uc011ljb.1_Silent_p.L536L|TG_uc011ljc.1_Silent_p.L300L	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2167	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACATAGTCTGCAGGGTCAGA	0.532												
FAM135B	51059	broad.mit.edu	37	8	139153505	139153505	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:139153505C>T	uc003yuy.2	-	17	3897	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	FAM135B_uc003yux.2_Silent_p.T1143T|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1242										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGACAGGAACGTGTGGAGTT	0.507										HNSCC(54;0.14)		
EIF2C2	27161	broad.mit.edu	37	8	141566043	141566043	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:141566043G>A	uc003yvn.2	-	10	1261	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	EIF2C2_uc010men.2_Silent_p.D330D|EIF2C2_uc010meo.2_Silent_p.D407D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	407					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GCCCAGTCACGTCTGTCATCT	0.577												
FLJ43860	389690	broad.mit.edu	37	8	142458045	142458045	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:142458045C>T	uc003ywi.2	-	23	2862	c.2781G>A	c.(2779-2781)AAG>AAA	p.K927K	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	927							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGCCTGCTGCTTGGGCTAGG	0.652												
ZNF696	79943	broad.mit.edu	37	8	144378347	144378347	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144378347G>A	uc003yxy.3	+	3	911	c.502G>A	c.(502-504)GTG>ATG	p.V168M		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	168	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCTCGCACGTGGTCCGGCA	0.687												
TOP1MT	116447	broad.mit.edu	37	8	144391637	144391637	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144391637T>C	uc003yxz.2	-	14	1799	c.1780A>G	c.(1780-1782)ATG>GTG	p.M594V	TOP1MT_uc011lkd.1_Missense_Mutation_p.M496V|TOP1MT_uc011lke.1_Missense_Mutation_p.M496V|TOP1MT_uc010mfb.2_Missense_Mutation_p.M496V|TOP1MT_uc011lkf.1_3'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	594					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCTCCTGCCATGGCGAGAGCC	0.502												
ZC3H3	23144	broad.mit.edu	37	8	144620765	144620765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144620765G>A	uc003yyd.2	-	2	801	c.772C>T	c.(772-774)CAG>TAG	p.Q258*		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	258					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCAAGGAGCTGTGGAGCACAG	0.672												
SCRIB	23513	broad.mit.edu	37	8	144877464	144877464	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144877464C>T	uc003yzp.1	-	26	3761	c.3754G>A	c.(3754-3756)GAG>AAG	p.E1252K	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.E1252K	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1252					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGTGGCCTCGGGCCCCCAG	0.687												
NRBP2	340371	broad.mit.edu	37	8	144918173	144918173	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144918173G>A	uc011lkt.1	-	16	1485	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	NRBP2_uc003yzv.2_Missense_Mutation_p.R206W|NRBP2_uc003yzz.1_Missense_Mutation_p.R99W|NRBP2_uc003yzw.2_Missense_Mutation_p.R241W|NRBP2_uc010mfl.2_Missense_Mutation_p.R241W|NRBP2_uc010mfm.2_Missense_Mutation_p.R206W|NRBP2_uc011lks.1_Missense_Mutation_p.R206W|NRBP2_uc003yzy.2_Missense_Mutation_p.R206W	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	449					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGTGCAGCCGGTCTTCCAGC	0.741												
PLEC	5339	broad.mit.edu	37	8	144994837	144994837	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144994837G>A	uc003zaf.1	-	32	9733	c.9563C>T	c.(9562-9564)TCC>TTC	p.S3188F	PLEC_uc003zab.1_Missense_Mutation_p.S3051F|PLEC_uc003zac.1_Missense_Mutation_p.S3055F|PLEC_uc003zad.2_Missense_Mutation_p.S3051F|PLEC_uc003zae.1_Missense_Mutation_p.S3019F|PLEC_uc003zag.1_Missense_Mutation_p.S3029F|PLEC_uc003zah.2_Missense_Mutation_p.S3037F|PLEC_uc003zaj.2_Missense_Mutation_p.S3078F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3188	Globular 2.|Plectin 7.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGCCATGTCGGATGGCAGCAG	0.667												
SCRT1	83482	broad.mit.edu	37	8	145557015	145557015	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145557015C>T	uc003zbw.1	-	2	991	c.879G>A	c.(877-879)GCG>GCA	p.A293A		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	293	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCTGCATGTGCGCGCGCAGGT	0.637												
KIFC2	90990	broad.mit.edu	37	8	145693130	145693130	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145693130G>C	uc003zcz.2	+	6	714	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	217	Potential.|Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGAACAGCAGGAGGAGGAGTT	0.637											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RECQL4	9401	broad.mit.edu	37	8	145740361	145740361	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145740361T>C	uc003zdj.2	-	9	1611	c.1579A>G	c.(1579-1581)ACG>GCG	p.T527A		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	527	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACGACCAACGTGAGGCAGGGG	0.637			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
VLDLR	7436	broad.mit.edu	37	9	2644970	2644970	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:2644970C>T	uc003zhk.1	+	9	1597	c.1200C>T	c.(1198-1200)TGC>TGT	p.C400C	VLDLR_uc003zhl.1_Silent_p.C400C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C359C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	400	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTGATGAATGCCAAAATCCAG	0.428												
CNTLN	54875	broad.mit.edu	37	9	17457549	17457549	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:17457549C>T	uc003zmz.2	+	19	3165	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	CNTLN_uc003zmy.2_Missense_Mutation_p.R1048W|CNTLN_uc010mio.2_Missense_Mutation_p.R727W	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1048	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCTGGGCTTCGGAAAGAAAA	0.269												
TEK	7010	broad.mit.edu	37	9	27217741	27217741	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:27217741C>T	uc003zqi.3	+	19	3489	c.3047C>T	c.(3046-3048)ACA>ATA	p.T1016I	TEK_uc011lno.1_Missense_Mutation_p.T973I|TEK_uc011lnp.1_Missense_Mutation_p.T868I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1016	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGTGTGTACACAACCAACAGT	0.428												
NOL6	65083	broad.mit.edu	37	9	33469244	33469244	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:33469244G>A	uc003zsz.2	-	6	924	c.823C>T	c.(823-825)CGC>TGC	p.R275C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R275C|NOL6_uc010mjv.2_Missense_Mutation_p.R275C|NOL6_uc011lob.1_Missense_Mutation_p.R215C|NOL6_uc003ztb.1_Missense_Mutation_p.R275C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	275					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGCAGAGCGCACATTGTTC	0.617												
STOML2	30968	broad.mit.edu	37	9	35101939	35101939	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:35101939C>T	uc003zwi.2	-	4	367	c.304G>A	c.(304-306)GAT>AAT	p.D102N	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.D102N|STOML2_uc003zwk.2_Missense_Mutation_p.D51N	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	102						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGACTCCATCGATTTGCAGA	0.473												
DCAF10	79269	broad.mit.edu	37	9	37861193	37861193	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:37861193C>T	uc004aao.2	+	7	1442	c.1368C>T	c.(1366-1368)CGC>CGT	p.R456R	DCAF10_uc010mlz.2_Silent_p.R283R|DCAF10_uc004aap.2_Silent_p.R107R	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	456						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						TCTCACCTCGCTGTTCTCTAC	0.483												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
VPS13A	23230	broad.mit.edu	37	9	79910753	79910753	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:79910753G>A	uc004akr.2	+	33	4063	c.3803G>A	c.(3802-3804)CGA>CAA	p.R1268Q	VPS13A_uc004akp.3_Missense_Mutation_p.R1268Q|VPS13A_uc004akq.3_Missense_Mutation_p.R1268Q|VPS13A_uc004aks.2_Missense_Mutation_p.R1229Q|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1268	TPR 4.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGTGAAATGCGACTATACAGG	0.348												
GNAQ	2776	broad.mit.edu	37	9	80430566	80430566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:80430566G>A	uc004akw.2	-	3	483	c.442C>T	c.(442-444)CGA>TGA	p.R148*	GNAQ_uc011lso.1_Translation_Start_Site	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	148					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						TATTCTCGTCGTCTATCATAG	0.378			Mis		uveal melanoma							
AGTPBP1	23287	broad.mit.edu	37	9	88272486	88272486	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:88272486C>T	uc011ltd.1	-	9	806	c.773G>A	c.(772-774)CGC>CAC	p.R258H	AGTPBP1_uc011ltc.1_Missense_Mutation_p.R156H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R258H|AGTPBP1_uc011lte.1_Missense_Mutation_p.R310H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	258					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GTTATCATGGCGGTGCCAATC	0.353												
OMD	4958	broad.mit.edu	37	9	95179158	95179158	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:95179158G>T	uc004asd.3	-	2	1052	c.683C>A	c.(682-684)CCT>CAT	p.P228H	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	228	LRR 6.				cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						CAAACCAGGAGGCATTGATTC	0.328			T	USP6	aneurysmal bone cysts							
C9orf129	445577	broad.mit.edu	37	9	96080728	96080728	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:96080728C>T	uc010mre.2	-	5	907	c.543G>A	c.(541-543)CCG>CCA	p.P181P	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	181										ovary(1)	1						GGCACACTGGCGGAGCTGCTT	0.612												
BARX1	56033	broad.mit.edu	37	9	96715033	96715033	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:96715033C>T	uc010mrh.2	-	3	758	c.578G>A	c.(577-579)CGG>CAG	p.R193Q	BARX1_uc004aud.2_Missense_Mutation_p.R39Q	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	193	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTCATCCTCCGATTCTGGTA	0.572												
TBC1D2	55357	broad.mit.edu	37	9	101014205	101014205	+	Missense_Mutation	SNP	C	C	T	rs140114775	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:101014205C>T	uc011lvb.1	-	2	553	c.373G>A	c.(373-375)GCC>ACC	p.A125T	TBC1D2_uc004ayq.2_Missense_Mutation_p.A125T|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A125T	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	125	PH.|Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGCTTGGTGGCGGCCTGAGAA	0.607												
ZNF462	58499	broad.mit.edu	37	9	109689884	109689884	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:109689884G>A	uc004bcz.2	+	3	3980	c.3691G>A	c.(3691-3693)GCC>ACC	p.A1231T	ZNF462_uc010mto.2_Missense_Mutation_p.A1079T|ZNF462_uc004bda.2_Missense_Mutation_p.A1079T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1231					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GCAGCATACGGCCACCATTCG	0.537												
ZFP37	7539	broad.mit.edu	37	9	115806463	115806463	+	Silent	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:115806463A>G	uc004bgm.1	-	4	463	c.435T>C	c.(433-435)ACT>ACC	p.T145T	ZFP37_uc011lwz.1_Silent_p.T160T|ZFP37_uc011lxa.1_Silent_p.T146T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCTTAGCTTGAGTTTTCTTCT	0.353												
ZNF618	114991	broad.mit.edu	37	9	116811801	116811801	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:116811801C>T	uc004bid.2	+	15	2318	c.2219C>T	c.(2218-2220)ACG>ATG	p.T740M	ZNF618_uc004bic.2_Missense_Mutation_p.T647M|ZNF618_uc011lxi.1_Missense_Mutation_p.T707M|ZNF618_uc011lxj.1_Missense_Mutation_p.T708M|ZNF618_uc010mvb.2_Missense_Mutation_p.T330M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCATCCTGACGCCGGTGAAG	0.612												
TNC	3371	broad.mit.edu	37	9	117849200	117849200	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:117849200G>A	uc004bjj.3	-	3	1172	c.810C>T	c.(808-810)TGC>TGT	p.C270C	TNC_uc010mvf.2_Silent_p.C270C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	270	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGCCATCGTGGCACACACACA	0.562												
ASTN2	23245	broad.mit.edu	37	9	119495677	119495677	+	Splice_Site	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:119495677C>T	uc004bjs.1	-	14	2622	c.2521_splice	c.e14+1	p.G841_splice	ASTN2_uc004bjr.1_Splice_Site_p.G837_splice|ASTN2_uc004bjt.1_Splice_Site_p.G790_splice	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c							integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ATGTGTCTTACCAGTGAGCAG	0.612												
TRAF1	7185	broad.mit.edu	37	9	123673661	123673661	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:123673661C>T	uc004bku.1	-	6	1408	c.836G>A	c.(835-837)CGG>CAG	p.R279Q	TRAF1_uc011lyg.1_Missense_Mutation_p.R157Q|TRAF1_uc010mvl.1_Missense_Mutation_p.R279Q	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	279	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						CTCATGGCACCGCCTGGTGAC	0.622												
MAPKAP1	79109	broad.mit.edu	37	9	128347904	128347904	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:128347904C>T	uc004bpv.2	-	5	934	c.601G>A	c.(601-603)GCC>ACC	p.A201T	MAPKAP1_uc011lzt.1_Missense_Mutation_p.A4T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.A4T|MAPKAP1_uc011lzv.1_Missense_Mutation_p.A4T|MAPKAP1_uc004bpw.2_Missense_Mutation_p.A9T|MAPKAP1_uc004bpx.2_Missense_Mutation_p.A9T|MAPKAP1_uc004bpy.2_Missense_Mutation_p.A201T|MAPKAP1_uc004bpz.2_Missense_Mutation_p.A201T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Missense_Mutation_p.A4T|MAPKAP1_uc004bqa.2_Missense_Mutation_p.A201T|MAPKAP1_uc010mxc.1_Missense_Mutation_p.A73T	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	201					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						TGCACCCTGGCGCTGGCCATT	0.542												
METTL11A	28989	broad.mit.edu	37	9	132397705	132397705	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:132397705G>A	uc004byd.1	+	4	828	c.634G>A	c.(634-636)GAT>AAT	p.D212N	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	212					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						GAACCTCCCCGATGAGATCTA	0.632												
PPAPDC3	84814	broad.mit.edu	37	9	134165625	134165625	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134165625G>A	uc004cal.2	+	1	545	c.241G>A	c.(241-243)GCC>ACC	p.A81T		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	81	interaction with MTOR (By similarity).|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CAAGGGCATCGCCTTCAACTC	0.657												
UCK1	83549	broad.mit.edu	37	9	134404971	134404971	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134404971T>A	uc004cay.2	-	3	370	c.269A>T	c.(268-270)GAT>GTT	p.D90V	UCK1_uc010mzk.2_Missense_Mutation_p.D81V|UCK1_uc004cba.2_Missense_Mutation_p.D90V|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	90					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ATCAAAGGCATCTGCAGGGTT	0.547												
UCK1	83549	broad.mit.edu	37	9	134405956	134405956	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134405956A>G	uc004cay.2	-	2	286	c.185T>C	c.(184-186)CTG>CCG	p.L62P	UCK1_uc010mzk.2_Missense_Mutation_p.L53P|UCK1_uc004cba.2_Missense_Mutation_p.L62P|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	62					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCCTGGCTCAGGATGACCAC	0.552												
NTNG2	84628	broad.mit.edu	37	9	135114621	135114621	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135114621C>T	uc004cbh.2	+	6	1961	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	395	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACTACCGCAACGGCTCGGCAG	0.607												
SETX	23064	broad.mit.edu	37	9	135202830	135202830	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135202830G>A	uc004cbk.2	-	10	4338	c.4155C>T	c.(4153-4155)GAC>GAT	p.D1385D	SETX_uc004cbj.2_Silent_p.D1004D|SETX_uc010mzt.2_Silent_p.D1004D	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1385					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTACAAATATGTCAGAATTCT	0.373												
C9orf171	389799	broad.mit.edu	37	9	135285799	135285799	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135285799C>T	uc004cbn.2	+	1	189	c.141C>T	c.(139-141)AAC>AAT	p.N47N	C9orf171_uc004cbo.2_Silent_p.N47N	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	47										ovary(4)|large_intestine(1)	5						GCATGGAGAACGAGCGGCTGG	0.602												
DBH	1621	broad.mit.edu	37	9	136513045	136513045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:136513045G>T	uc004cel.2	+	6	1111	c.1102G>T	c.(1102-1104)GGA>TGA	p.G368*		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	368	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CATGGAGCTGGGACTGGTGTA	0.612												
SOHLH1	402381	broad.mit.edu	37	9	138591262	138591262	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:138591262C>T	uc004cgl.2	-	1	113	c.52G>A	c.(52-54)GTC>ATC	p.V18I	KCNT1_uc011mdq.1_5'Flank|KCNT1_uc011mdr.1_5'Flank|KCNT1_uc010nbf.2_5'Flank|SOHLH1_uc010nbe.2_Missense_Mutation_p.V18I	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	18					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CATCCCCTGACGGTAGGGATT	0.677												
SNAPC4	6621	broad.mit.edu	37	9	139270819	139270819	+	Missense_Mutation	SNP	G	G	A	rs144652680	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139270819G>A	uc004chh.2	-	22	4408	c.4399C>T	c.(4399-4401)CGG>TGG	p.R1467W	CARD9_uc004chg.3_5'Flank|CARD9_uc011mdw.1_5'Flank|CARD9_uc011mdx.1_5'Flank|CARD9_uc010nbj.2_5'Flank	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1467					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACACCAGCCGCCTCCGCTTC	0.627												
INPP5E	56623	broad.mit.edu	37	9	139325467	139325467	+	Missense_Mutation	SNP	G	G	A	rs75342839	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139325467G>A	uc004cho.2	-	8	2037	c.1652C>T	c.(1651-1653)ACG>ATG	p.T551M	INPP5E_uc010nbm.2_Missense_Mutation_p.T550M	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	551						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GTATGAGGGCGTCCTCTGCTT	0.612												
SEC16A	9919	broad.mit.edu	37	9	139368831	139368831	+	Silent	SNP	C	C	T	rs3812593		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139368831C>T	uc004chx.2	-	3	3546	c.3237G>A	c.(3235-3237)TCG>TCA	p.S1079S	SEC16A_uc004chv.3_Silent_p.S469S|SEC16A_uc004chw.2_Silent_p.S1079S|SEC16A_uc010nbn.2_Silent_p.S1079S|SEC16A_uc010nbo.1_Silent_p.S1079S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	901					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGACAGCTCCGAAAACATGG	0.607												
NOTCH1	4851	broad.mit.edu	37	9	139402689	139402689	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139402689C>T	uc004chz.2	-	20	3320	c.3320G>A	c.(3319-3321)CGA>CAA	p.R1107Q	NOTCH1_uc004cia.1_Missense_Mutation_p.R337Q	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1107	Extracellular (Potential).|EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTACCTTGTCGCTGCGCAGC	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
ABCA2	20	broad.mit.edu	37	9	139904678	139904678	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139904678G>A	uc011mem.1	-	40	6465	c.6317C>T	c.(6316-6318)ACG>ATG	p.T2106M	ABCA2_uc011mel.1_Missense_Mutation_p.T2107M|ABCA2_uc004ckl.1_Missense_Mutation_p.T2037M|ABCA2_uc004ckm.1_Missense_Mutation_p.T2137M	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2106	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCCCCGTCGTGCTCTCGTC	0.706												
MAN1B1	11253	broad.mit.edu	37	9	139994162	139994162	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139994162C>T	uc004cld.2	+	6	780	c.745C>T	c.(745-747)CGC>TGC	p.R249C	MAN1B1_uc004clc.2_Missense_Mutation_p.R150C|MAN1B1_uc011meo.1_Missense_Mutation_p.R150C|MAN1B1_uc011mep.1_Missense_Mutation_p.R249C|MAN1B1_uc010ncc.2_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	249	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCTGAACTATCGCCAGAAGGG	0.587												
EXD3	54932	broad.mit.edu	37	9	140242530	140242530	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:140242530G>A	uc004cmp.2	-	17	2187	c.1991C>T	c.(1990-1992)GCG>GTG	p.A664V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A315V|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	664					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CACCTCGGCCGCCCTGCGGTG	0.647												
SFRS17A	8227	broad.mit.edu	37	X	1712983	1712983	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:1712983G>A	uc004cqa.2	+	2	824	c.628G>A	c.(628-630)GGG>AGG	p.G210R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G210R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	210	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTCAGTTTCGGGGGGCACTT	0.587												
ZBED1	9189	broad.mit.edu	37	X	2407150	2407150	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:2407150C>T	uc004cqg.2	-	2	1812	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T537T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	537						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGCGGCGGCGTGGATGTCC	0.647												
ZBED1	9189	broad.mit.edu	37	X	2407741	2407741	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:2407741G>A	uc004cqg.2	-	2	1221	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.N340N	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	340						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTGGGCCACGTTCTGCTGCT	0.637												
MXRA5	25878	broad.mit.edu	37	X	3235934	3235934	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:3235934C>T	uc004crg.3	-	6	5945	c.5788G>A	c.(5788-5790)GCC>ACC	p.A1930T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1930	Ig-like C2-type 3.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTTGCTGGCGGTGCACATA	0.527												
KAL1	3730	broad.mit.edu	37	X	8503632	8503632	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:8503632G>A	uc004csf.2	-	12	1992	c.1842C>T	c.(1840-1842)TCC>TCT	p.S614S		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	614	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TGGGACCTACGGAAGGCAGGA	0.498												
FAM9C	171484	broad.mit.edu	37	X	13058875	13058875	+	Splice_Site	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:13058875A>G	uc004cvh.1	-	5	539	c.329_splice	c.e5+1	p.R110_splice	FAM9C_uc004cvg.2_Splice_Site_p.R110_splice	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C							nucleus					0						CAACAATCATACCTTTTTAGT	0.299												
TXLNG	55787	broad.mit.edu	37	X	16836812	16836812	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:16836812G>A	uc004cxq.1	+	2	269	c.218G>A	c.(217-219)GGC>GAC	p.G73D	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	73					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						AATTGTGGTGGCACAAGTAAC	0.418												
EIF1AX	1964	broad.mit.edu	37	X	20153954	20153954	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:20153954C>T	uc004czt.2	-	3	314	c.106G>A	c.(106-108)GCT>ACT	p.A36T		NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	36	S1-like.					cytosol	translation initiation factor activity			ovary(1)	1						ATTACCTGAGCATACTCTAGC	0.378												
RPS6KA3	6197	broad.mit.edu	37	X	20205970	20205970	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:20205970G>A	uc004czu.2	-	9	750	c.750C>T	c.(748-750)GAC>GAT	p.D250D	RPS6KA3_uc011mjk.1_Silent_p.D221D|RPS6KA3_uc004czv.2_Silent_p.D238D|RPS6KA3_uc011mjl.1_Silent_p.D222D|RPS6KA3_uc011mjm.1_Silent_p.D222D	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	250	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						AAGACCACCAGTCAGCACTCT	0.398												
MAGEB1	4112	broad.mit.edu	37	X	30268938	30268938	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:30268938T>C	uc004dcc.2	+	4	648	c.328T>C	c.(328-330)TGG>CGG	p.W110R	MAGEB1_uc004dcd.2_Missense_Mutation_p.W110R|MAGEB1_uc004dce.2_Missense_Mutation_p.W110R	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	110	MAGE.										0						TCCTGTAGCCTGGGAGGCAGG	0.453												
DMD	1756	broad.mit.edu	37	X	32235152	32235152	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:32235152G>A	uc004dda.1	-	44	6563	c.6319C>T	c.(6319-6321)CGG>TGG	p.R2107W	DMD_uc004dcw.2_Missense_Mutation_p.R763W|DMD_uc004dcx.2_Missense_Mutation_p.R766W|DMD_uc004dcz.2_Missense_Mutation_p.R1984W|DMD_uc004dcy.1_Missense_Mutation_p.R2103W|DMD_uc004ddb.1_Missense_Mutation_p.R2099W|DMD_uc010ngo.1_Missense_Mutation_p.R16W|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2107	Spectrin 15.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TGAAAACGCCGCCATTTCTCA	0.348												
FAM47B	170062	broad.mit.edu	37	X	34960964	34960964	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:34960964C>T	uc004ddi.1	+	1	34	c.16C>T	c.(16-18)CCA>TCA	p.P6S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	6										ovary(3)|breast(1)	4						GGACCGGAGGCCACAGGACCG	0.627												
CHST7	56548	broad.mit.edu	37	X	46433662	46433662	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46433662G>A	uc004dgt.2	+	1	471	c.296G>A	c.(295-297)CGC>CAC	p.R99H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	99	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						GCAGTGTCTCGCGAGAAGCAG	0.647												
CHST7	56548	broad.mit.edu	37	X	46433912	46433912	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46433912G>A	uc004dgt.2	+	1	721	c.546G>A	c.(544-546)CCG>CCA	p.P182P		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	182	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						cgcgcgccccggACACGGCCA	0.562												
CHST7	56548	broad.mit.edu	37	X	46434160	46434160	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46434160G>A	uc004dgt.2	+	1	969	c.794G>A	c.(793-795)CGT>CAT	p.R265H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	265	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						CCCCTGTTGCGTGATCCAGGC	0.657												
ARAF	369	broad.mit.edu	37	X	47424204	47424204	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:47424204C>T	uc011mlq.1	+	4	342	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Translation_Start_Site|ARAF_uc011mlp.1_Missense_Mutation_p.T70M|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	70	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGACGAAAGACGGTCACTGCC	0.592												
HDAC6	10013	broad.mit.edu	37	X	48666716	48666716	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:48666716C>T	uc011mmi.1	+	10	884	c.789C>T	c.(787-789)ACC>ACT	p.T263T	HDAC6_uc004dks.1_Silent_p.T263T|HDAC6_uc010nig.1_Silent_p.T111T|HDAC6_uc004dkt.1_Silent_p.T263T|HDAC6_uc011mmj.1_Silent_p.T208T|HDAC6_uc011mmk.1_Silent_p.T244T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	263	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CACAGTTCACCTTCGACCAGG	0.577												
ERAS	3266	broad.mit.edu	37	X	48687744	48687744	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:48687744G>A	uc004dky.1	+	1	462	c.211G>A	c.(211-213)GAC>AAC	p.D71N		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	71	Effector region (By similarity).				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						GGAGGACCACGACCCCACCAT	0.612												
CACNA1F	778	broad.mit.edu	37	X	49067892	49067892	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:49067892C>T	uc004dnb.2	-	36	4245	c.4183G>A	c.(4183-4185)GGA>AGA	p.G1395R	CACNA1F_uc010nip.2_Missense_Mutation_p.G1384R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1395	Extracellular (Potential).|IV.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CACCGATTTCCGGGAAGGCTG	0.532												
DGKK	139189	broad.mit.edu	37	X	50146496	50146496	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:50146496T>A	uc010njr.1	-	6	1238	c.1178A>T	c.(1177-1179)GAT>GTT	p.D393V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	393					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TACTACTTCATCTGCAGGCAG	0.483												
IQSEC2	23096	broad.mit.edu	37	X	53285133	53285133	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53285133C>G	uc004dsd.2	-	3	1049	c.848G>C	c.(847-849)GGC>GCC	p.G283A	IQSEC2_uc004dsc.2_Missense_Mutation_p.G78A	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	273					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGCAGGGGGGCCCCCCATGTG	0.687												
RIBC1	158787	broad.mit.edu	37	X	53454959	53454959	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53454959C>T	uc004dsk.2	+	4	279	c.126C>T	c.(124-126)GTC>GTT	p.V42V	RIBC1_uc004dsj.1_Silent_p.V42V|RIBC1_uc011mog.1_Silent_p.V42V	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	42											0						AGGTGGATGTCCAGGCCCTGA	0.517												
HUWE1	10075	broad.mit.edu	37	X	53631667	53631667	+	Silent	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53631667A>C	uc004dsp.2	-	26	3027	c.2625T>G	c.(2623-2625)GCT>GCG	p.A875A		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	875					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TGCCTGCGCAAGCCAGTTCTC	0.562												
MTMR8	55613	broad.mit.edu	37	X	63555963	63555963	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:63555963G>T	uc004dvs.2	-	10	1215	c.1147C>A	c.(1147-1149)CAA>AAA	p.Q383K	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.Q383K	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	383	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TTTTACCTTTGGGAAAACTTG	0.338												
EDA	1896	broad.mit.edu	37	X	69243069	69243069	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:69243069C>T	uc004dxs.2	+	3	746	c.504C>T	c.(502-504)GGC>GGT	p.G168G	EDA_uc004dxr.2_Silent_p.G168G|EDA_uc011mpj.1_Silent_p.G168G	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	168	Extracellular (Potential).				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						TTCTTATAGGCCCAGTTAAAA	0.303												
OGT	8473	broad.mit.edu	37	X	70757854	70757854	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:70757854G>A	uc004eaa.1	+	3	611	c.394G>A	c.(394-396)GCC>ACC	p.A132T	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.A122T|OGT_uc011mpw.1_Missense_Mutation_p.A132T	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	132	TPR 3.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					CCTGGCAGCCGCCTTGGTAGC	0.463												
ABCB7	22	broad.mit.edu	37	X	74376093	74376093	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:74376093C>T	uc004eca.2	-	1	40	c.15G>A	c.(13-15)GCG>GCA	p.A5A	ABCB7_uc004ebz.2_Silent_p.A5A|ABCB7_uc011mqn.1_Silent_p.A5A|ABCB7_uc010nls.2_Silent_p.A5A|ABCB7_uc010nlt.2_Silent_p.A5A	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	5					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						AAGAATGCATCGCGAGCAGCG	0.582											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATRX	546	broad.mit.edu	37	X	76939918	76939918	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:76939918A>G	uc004ecp.3	-	9	1062	c.830T>C	c.(829-831)GTC>GCC	p.V277A	ATRX_uc004ecq.3_Missense_Mutation_p.V239A|ATRX_uc004eco.3_Missense_Mutation_p.V62A|ATRX_uc004ecr.2_Missense_Mutation_p.V238A|ATRX_uc010nlx.1_Missense_Mutation_p.V277A|ATRX_uc010nly.1_Missense_Mutation_p.V222A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	277	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACATGCAGTGACCAAGTCCAA	0.368			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
MAGT1	84061	broad.mit.edu	37	X	77150883	77150883	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:77150883A>G	uc004fof.2	-	1	183	c.121T>C	c.(121-123)TGT>CGT	p.C41R	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.C41R	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	9					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ACAGAGACACACCAAAACCGC	0.567												
POU3F4	5456	broad.mit.edu	37	X	82763852	82763852	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:82763852G>A	uc004eeg.2	+	1	584	c.520G>A	c.(520-522)GAA>AAA	p.E174K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	174					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGATCACGGCGAACTGGGCTC	0.602												
PCDH11X	27328	broad.mit.edu	37	X	91873765	91873765	+	Silent	SNP	C	C	T	rs146706969		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:91873765C>T	uc004efk.1	+	7	4715	c.3870C>T	c.(3868-3870)TGC>TGT	p.C1290C	PCDH11X_uc004efl.1_Silent_p.C1280C|PCDH11X_uc004efo.1_Silent_p.C1253C|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.C1282C|PCDH11X_uc004efn.1_Silent_p.C1272C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1290	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATGGGCTATGCTCTGTTGATC	0.473												
DIAPH2	1730	broad.mit.edu	37	X	96013170	96013170	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:96013170C>T	uc004efu.3	+	4	756	c.360C>T	c.(358-360)AAC>AAT	p.N120N	DIAPH2_uc004eft.3_Silent_p.N120N|DIAPH2_uc004efs.2_Silent_p.N120N	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	120	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGAACCTTAACGAAGAGAAAA	0.363												
SYTL4	94121	broad.mit.edu	37	X	99956505	99956505	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:99956505C>T	uc004egd.3	-	5	631	c.275G>A	c.(274-276)CGC>CAC	p.R92H	SYTL4_uc010nnc.2_Missense_Mutation_p.R92H|SYTL4_uc004ege.3_Missense_Mutation_p.R92H|SYTL4_uc004egf.3_Missense_Mutation_p.R92H|SYTL4_uc004egg.3_Missense_Mutation_p.R92H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	92	RabBD.|FYVE-type.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582												
TCEAL5	340543	broad.mit.edu	37	X	102529121	102529121	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:102529121G>A	uc004ejz.1	-	3	666	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						GGAATCGTCCGTCCCCCTGTC	0.577												
WBP5	51186	broad.mit.edu	37	X	102612760	102612760	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:102612760A>G	uc004ekd.2	+	3	449	c.148A>G	c.(148-150)ATT>GTT	p.I50V	WBP5_uc004eke.2_Missense_Mutation_p.I50V|WBP5_uc004ekf.2_Missense_Mutation_p.I50V|WBP5_uc004ekg.2_Missense_Mutation_p.I50V	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	50	Glu-rich.										0						AGAAAGGCTGATTCAATCTCT	0.413												
FAM199X	139231	broad.mit.edu	37	X	103432819	103432819	+	Silent	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:103432819C>T	uc004elw.2	+	5	994	c.828C>T	c.(826-828)AGC>AGT	p.S276S	FAM199X_uc004elx.2_Silent_p.S93S	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	276	Ser-rich.									ovary(1)	1						GTGGAGTGAGCGGTGCCAGTG	0.552												
IL1RAPL2	26280	broad.mit.edu	37	X	105011292	105011292	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:105011292T>G	uc004elz.1	+	11	2455	c.1699T>G	c.(1699-1701)TGC>GGC	p.C567G		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	567	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GCTACCTCGGTGCCATGTTCT	0.433												
NRK	203447	broad.mit.edu	37	X	105137885	105137885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:105137885C>T	uc004emd.2	+	6	742	c.439C>T	c.(439-441)CAG>TAG	p.Q147*	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	147	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GACCAGTAATCAGAGTTTAAA	0.403										HNSCC(51;0.14)		
LRCH2	57631	broad.mit.edu	37	X	114384409	114384409	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:114384409A>C	uc010nqe.2	-	14	1707	c.1676T>G	c.(1675-1677)ATT>AGT	p.I559S	LRCH2_uc004epz.2_Missense_Mutation_p.I559S	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	559										ovary(1)	1						TTCTTTTCTAATCTGTTTGCT	0.323												
XPNPEP2	7512	broad.mit.edu	37	X	128880625	128880625	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:128880625G>A	uc004eut.1	+	6	702	c.458G>A	c.(457-459)CGT>CAT	p.R153H	XPNPEP2_uc011mum.1_Missense_Mutation_p.R153H	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	153					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCTGGAGGGCGTGTGGGTTTT	0.517												
RAB33A	9363	broad.mit.edu	37	X	129318301	129318301	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:129318301A>G	uc004evl.2	+	2	565	c.301A>G	c.(301-303)AGC>GGC	p.S101G	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	101					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						TTTCCGCAAAAGCATGGTCGA	0.483												
GPR112	139378	broad.mit.edu	37	X	135426784	135426784	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:135426784G>A	uc004ezu.1	+	6	1210	c.919G>A	c.(919-921)GTA>ATA	p.V307I	GPR112_uc010nsb.1_Missense_Mutation_p.V102I|GPR112_uc010nsc.1_Missense_Mutation_p.V74I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	307	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AAAGACACTGGTAGATGAGAC	0.378												
GPR101	83550	broad.mit.edu	37	X	136112821	136112821	+	Missense_Mutation	SNP	C	C	T	rs148515087		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:136112821C>T	uc011mwh.1	-	1	1013	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	338	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GACCTCTGTGCGACCCTTGTC	0.542												
GPR101	83550	broad.mit.edu	37	X	136113350	136113350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:136113350G>A	uc011mwh.1	-	1	484	c.484C>T	c.(484-486)CAG>TAG	p.Q162*		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	162	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GGAGTGCTCTGCAGGATGGCC	0.597												
SPANXN3	139067	broad.mit.edu	37	X	142596775	142596775	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:142596775C>T	uc004fbw.2	-	2	383	c.295G>A	c.(295-297)GAT>AAT	p.D99N		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	99										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCTTCATCCTCATTTGAA	0.453												
GPR50	9248	broad.mit.edu	37	X	150349107	150349107	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:150349107G>A	uc010ntg.1	+	2	1187	c.1052G>A	c.(1051-1053)CGT>CAT	p.R351H	uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	351	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAAGACCGTGCCCATGCC	0.612												
MAGEA6	4105	broad.mit.edu	37	X	151869697	151869697	+	Silent	SNP	G	G	T	rs144510184		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151869697G>T	uc004ffq.1	+	3	581	c.387G>T	c.(385-387)CCG>CCT	p.P129P	MAGEA6_uc004ffr.1_Silent_p.P129P|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522												
MAGEA6	4105	broad.mit.edu	37	X	151870148	151870148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151870148G>T	uc004ffq.1	+	3	1032	c.838G>T	c.(838-840)GAA>TAA	p.E280*	MAGEA6_uc004ffr.1_Nonsense_Mutation_p.E280*|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	280	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGAAACCAGCTA	0.537												
MAGEA3	4102	broad.mit.edu	37	X	151935399	151935399	+	Silent	SNP	C	C	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151935399C>G	uc004fgp.2	-	3	977	c.768G>C	c.(766-768)CTG>CTC	p.L256L		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	256	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGTACTCCAGGTAGTTTT	0.532												
ATP2B3	492	broad.mit.edu	37	X	152813354	152813354	+	Silent	SNP	G	G	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:152813354G>A	uc004fht.1	+	7	1146	c.1020G>A	c.(1018-1020)GGG>GGA	p.G340G	ATP2B3_uc004fhs.1_Silent_p.G340G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	340	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGGTGGGGAGATGGAGG	0.582												
HEATR1	55127	broad.mit.edu	37	1	236767430	236767430	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGACACGGGCTAAAAAAACGT	0.473												
WDFY3	23001	broad.mit.edu	37	4	85741342	85741342	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGTCCCCTAAAAAAAGGT	0.323												
FBXW7	55294	broad.mit.edu	37	4	153249361	153249362	+	Splice_Site	INS	-	-	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:153249360_153249361C>CT	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATGA	0.416			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
CAST	831	broad.mit.edu	37	5	96071876	96071876	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:96071875_96071875GA>G	uc011cuo.1	+	9	604	c.520_splice	c.e9-1	p.K174_splice	CAST_uc003klt.3_Splice_Site_p.K128_splice|CAST_uc021ybr.1_Splice_Site_p.K189_splice|CAST_uc003klx.3_Splice_Site_p.K170_splice|CAST_uc003klz.1_Splice_Site_p.K128_splice|CAST_uc011cup.2_Splice_Site_p.K79_splice|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Splice_Site_p.K128_splice|CAST_uc021ybt.1_Splice_Site_p.K106_splice|CAST_uc011cut.2_Intron|CAST_uc011cur.2_Splice_Site_p.K114_splice|CAST_uc011cus.2_Splice_Site_p.K128_splice|CAST_uc003kma.2_Splice_Site_p.K87_splice|CAST_uc003kmd.3_Splice_Site_p.K106_splice	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	128							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATTCTCACCAGAAAAAAGAAA	0.323												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
ABCF2	10061	broad.mit.edu	37	7	150915962	150915962	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150915961_150915961TA>T	uc003wjo.1	-	9	1129	c.1018_splice	c.e9-1	p.N340_splice	ABCF2_uc003wjp.3_Splice_Site_p.N340_splice	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	340						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGTAGTTCTAAAAAAGACC	0.488												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
TUBGCP3	10426	broad.mit.edu	37	13	113181367	113181367	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:113181366_113181366TA>T	uc001vse.1	-	13	1634	c.1447_splice	c.e13-1	p.V483_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.V473_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.V483_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	483					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAAAGGACCTAAAAAGAAAA	0.328												
ELL3	80237	broad.mit.edu	37	15	44089043	44089044	+	Splice_Site	DEL	CT	CT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44089042_44089043CCT>C	uc001zsx.1	-	3	369	c.-616_splice	c.e3+1		C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Splice_Site|SERINC4_uc010bds.1_Splice_Site_p.V70_splice|SERINC4_uc001zte.1_Splice_Site_p.V70_splice|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGTCCCTTACCTCTCTCTGGA	0.505												
PIK3R2	5296	broad.mit.edu	37	19	18273319	18273319	+	Splice_Site	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:18273318_18273318TG>T	uc002nia.1	+	9	1621	c.1109_splice	c.e9+2	p.R370_splice	PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	370	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GACCCTCAGGTGGGGGCCTGT	0.592												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
CXorf26	51260	broad.mit.edu	37	X	75393486	75393489	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:75393485_75393488TGTGA>T	uc004ecl.1	+	2	299	c.96_splice	c.e2+1	p.D32_splice	CXorf26_uc004eck.1_Non-coding_Transcript	NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	32										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						ATGGCAACGATGTGAGTATGACTC	0.534												
HFM1	164045	broad.mit.edu	37	1	91781980	91781980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:91781980delT	uc001doa.3	-	26	2966	c.2866delA	c.(2866-2868)ATAfs	p.I956fs	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Frame_Shift_Del_p.I635fs|HFM1_uc001dob.3_Frame_Shift_Del_p.I144fs|HFM1_uc010osv.1_Frame_Shift_Del_p.I640fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCTCTTCTATTTTTTTAAAG	0.294												
FUT11	170384	broad.mit.edu	37	10	75535344	75535344	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:75535344delG	uc001jva.2	+	3	1423	c.1380delG	c.(1378-1380)CAGfs	p.Q460fs	FUT11_uc001juz.1_3'UTR	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	460	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					GTCTGGACCAGGGGGAAGCTC	0.433												
ANKK1	255239	broad.mit.edu	37	11	113270239	113270239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:113270239delG	uc001pny.2	+	8	1642	c.1548delG	c.(1546-1548)CAGfs	p.Q516fs		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	516	ANK 5.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGACCAGCCAGGGGGCTGAGT	0.602												
MLL2	8085	broad.mit.edu	37	12	49434384	49434384	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49434384delG	uc001rta.3	-	31	7169	c.7169delC	c.(7168-7170)CCGfs	p.P2390fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2390	Pro-rich.|Poly-Pro.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTCAGGGGGCGGAGGTTGGGG	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KRT6C	286887	broad.mit.edu	37	12	52867151	52867151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:52867151delC	uc001sal.3	-	1	419	c.371delG	c.(370-372)GGCfs	p.G124fs		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	124	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAAGCCAGGGCCCCCAAAGCC	0.627												
TENC1	23371	broad.mit.edu	37	12	53452869	53452869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:53452869delC	uc001sbp.2	+	18	1579	c.1444delC	c.(1444-1446)CCTfs	p.P482fs	TENC1_uc001sbl.2_Frame_Shift_Del_p.P358fs|TENC1_uc001sbn.2_Frame_Shift_Del_p.P492fs|TENC1_uc001sbq.2_5'UTR|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_5'UTR|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	482					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						GGATGGCAGTCCTTATGCCCA	0.667												
CEP290	80184	broad.mit.edu	37	12	88453675	88453675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:88453675delT	uc001tar.2	-	48	6989	c.6645delA	c.(6643-6645)AAAfs	p.K2215fs	CEP290_uc001taq.2_Frame_Shift_Del_p.K1275fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2215	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AAAGTCATACTTTTTTAAGTT	0.333												
CASKIN1	57524	broad.mit.edu	37	16	2230946	2230946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:2230946delG	uc010bsg.1	-	18	2455	c.2423delC	c.(2422-2424)CCGfs	p.P808fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	808	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CAGCAGCTGCGGGGTGGGCTT	0.711												
ZBTB7C	201501	broad.mit.edu	37	18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-	rs115080210	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:45567085delC	uc002lda.2	-	1	410	c.394delG	c.(394-396)GACfs	p.D132fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcccccccgtcccccCCAGGC	0.289												
TOP1	7150	broad.mit.edu	37	20	39725955	39725955	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39725955delA	uc002xjl.2	+	10	1072	c.826delA	c.(826-828)AAAfs	p.K276fs	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	276					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AATATTTAGGAAAAATTTCTT	0.353			T	NUP98	AML*							
CECR6	27439	broad.mit.edu	37	22	17601118	17601119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:17601118_17601119insC	uc002zmb.2	-	1	1095_1096	c.899_900insG	c.(898-900)GGCfs	p.G300fs	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	300	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		cccccaggccgccccccgcgcc	0.485												
FBLN2	2199	broad.mit.edu	37	3	13612536	13612536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:13612536delC	uc011avb.1	+	2	806	c.681delC	c.(679-681)GGCfs	p.G227fs	FBLN2_uc011auz.1_Frame_Shift_Del_p.G253fs|FBLN2_uc011ava.1_Frame_Shift_Del_p.G227fs|FBLN2_uc011avc.1_Frame_Shift_Del_p.G227fs	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	227	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCAGGGGGCCCCCCAGCTG	0.701												
KLF3	51274	broad.mit.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:38690460delA	uc003gth.3	+	3	644	c.312delA	c.(310-312)ATAfs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GCCCACCGATAAAAAAATACT	0.617												
CHSY3	337876	broad.mit.edu	37	5	129240751	129240751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:129240751delC	uc003kvd.2	+	1	229	c.229delC	c.(229-231)CCCfs	p.P77fs		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	77	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCAGTCGCCGCCCCCCGCGCG	0.736												
BMP6	654	broad.mit.edu	37	6	7727711	7727711	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:7727711delC	uc003mxu.3	+	1	701	c.523delC	c.(523-525)CCCfs	p.P175fs		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	175					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TCGGCAGCCGCCCCCGGGCGC	0.751												
TTK	7272	broad.mit.edu	37	6	80751906	80751906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:80751906delG	uc003pjc.2	+	22	2635	c.2561delG	c.(2560-2562)AGGfs	p.R854fs	TTK_uc003pjb.3_Frame_Shift_Del_p.R853fs	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	854					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAAAAAAAGGGGAAAAAAA	0.308												
TAF6	6878	broad.mit.edu	37	7	99709365	99709368	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:99709365_99709368delAGAG	uc003uti.2	-	9	964_967	c.883_886delCTCT	c.(883-888)CTCTATfs	p.L295fs	TAF6_uc003utg.2_Frame_Shift_Del_p.L217fs|TAF6_uc003uth.2_Frame_Shift_Del_p.L352fs|TAF6_uc003utk.2_Frame_Shift_Del_p.L295fs|TAF6_uc011kji.1_Frame_Shift_Del_p.L332fs|TAF6_uc003utj.2_Frame_Shift_Del_p.L285fs|TAF6_uc003utl.2_Frame_Shift_Del_p.L295fs|TAF6_uc003utm.2_Frame_Shift_Del_p.L295fs|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	295_296					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTTCTAGATAGAGCGTGGGGTTG	0.510												
ATG9B	285973	broad.mit.edu	37	7	150721322	150721322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150721322delG	uc011kvc.1	-	1	265	c.189delC	c.(187-189)CCCfs	p.P63fs	ATG9B_uc003wig.3_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	63	Pro-rich.|Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATGAGGAGGGGGAGCTTC	0.632												
C8orf47	203111	broad.mit.edu	37	8	99076899	99076900	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:99076899_99076900insG	uc003yih.1	+	1	150_151	c.2_3insG	c.(1-3)ATGfs	p.M1fs		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	1											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTCCCCGCAATGGGCTGCTCCA	0.609												
NOTCH1	4851	broad.mit.edu	37	9	139390736	139390736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139390736delG	uc004chz.2	-	34	7455	c.7455delC	c.(7453-7455)CCCfs	p.P2485fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2485	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTGCTGCGAGGGGGGCGTCA	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
CXorf65	158830	broad.mit.edu	37	X	70325942	70325942	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:70325942delA	uc011mpo.1	-	3	172	c.158delT	c.(157-159)TTCfs	p.F53fs	CXorf65_uc011mpp.1_Frame_Shift_Del_p.F5fs	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	53										central_nervous_system(1)	1						CTTCATCAGGAAAAGCATCTT	0.493												
CLCNKA	1187	broad.mit.edu	37	1	16378297	16378297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:16378296_16378296AG>A	uc001axx.4	+	13	1525	c.1389_1389AG>A	c.(1387-1389)ccafs	p.P463fs	CLCNKA_uc021ogl.1_Frame_Shift_Del_p.P110fs|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.P294fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.P294fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	463					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCATGCCAGGGGGGTATG	0.622												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
CSF3R	1441	broad.mit.edu	37	1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637												
GUCA2B	2981	broad.mit.edu	37	1	42620422	42620422	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:42620421_42620421GC>G	uc001chc.1	+	1	191	c.161_161GC>G	c.(160-162)agcfs	p.S54fs		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	54					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGCACCCAGCCCCCGCCTG	0.652												
KLF17	128209	broad.mit.edu	37	1	44595246	44595246	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:44595245_44595245GC>G	uc001clp.3	+	1	360	c.302_302GC>G	c.(301-303)tgcfs	p.C101fs	KLF17_uc009vxf.1_Frame_Shift_Del_p.C64fs	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	101					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					ATGAGCTACTGCCCCCAAGCG	0.567												
TAL1	6886	broad.mit.edu	37	1	47691475	47691476	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:47691474_47691475C>CG	uc001cqx.2	-	1	663_664	c.86_87G>CG	c.(85-87)ccgfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	29					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACCAGGTGCGGGGGGGCCAT	0.762			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic							
GLIS1	148979	broad.mit.edu	37	1	54060253	54060254	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:54060252_54060253A>AG	uc001cvr.1	-	2	890_891	c.323_324T>CT	c.(322-324)cctfs	p.P108fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	108					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCCCGTCAGAGGGGGGCTCCG	0.658												
AGL	178	broad.mit.edu	37	1	100330093	100330094	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:100330092_100330093T>TA	uc001dsi.1	+	4	1011_1012	c.611_612T>TA	c.(610-612)ttafs	p.L204fs	AGL_uc001dsj.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsk.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsl.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsm.1_Frame_Shift_Ins_p.L188fs|AGL_uc001dsn.1_Frame_Shift_Ins_p.L187fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	204					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGGAAAAATTAAAAAAGGAAT	0.337												
ARNT	405	broad.mit.edu	37	1	150784509	150784509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:150784508_150784508AG>A	uc001evr.2	-	21	2560	c.2359_2359CT>T	c.(2359-2361)tttfs	p.F787fs	ARNT_uc010pck.2_Frame_Shift_Del_p.F275fs|ARNT_uc001evs.2_Frame_Shift_Del_p.F772fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.F771fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.F773fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.F785fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	787					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATTCTGAAAAGGGGGGAAAC	0.378			T	ETV6	AML							
RFX5	5993	broad.mit.edu	37	1	151318741	151318742	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151318740_151318741T>TGG	uc001exv.1	-	2	270_271	c.56_57A>CCA	c.(55-57)ccafs	p.P19fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.P19fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.P19fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554												
IVL	3713	broad.mit.edu	37	1	152882397	152882397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:152882396_152882396TC>T	uc021ozl.1	+	0	123	c.123_123TC>T	c.(121-123)cctfs	p.P41fs	IVL_uc001fau.3_Frame_Shift_Del_p.P41fs	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	41					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCACTGCCTCCCCCATGCC	0.552												
GLRX2	51022	broad.mit.edu	37	1	193066820	193066820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:193066819_193066819CT>C	uc001gsz.2	-	2	351	c.255_255AG>G	c.(253-255)aagfs	p.K85fs	GLRX2_uc021pgp.1_Frame_Shift_Del_p.K45fs|GLRX2_uc001gta.2_Frame_Shift_Del_p.K86fs	NM_197962	NP_001230328	Q9NS18	GLRX2_HUMAN	Homo sapiens glutaredoxin 2 (GLRX2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	85	Glutaredoxin.				DNA protection|apoptosis|cell differentiation|cell redox homeostasis|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CATGGAAAAGCTTTTTTGCCA	0.333												
PLEKHA6	22874	broad.mit.edu	37	1	204234135	204234135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:204234134_204234134AG>A	uc001hau.3	-	5	634	c.317_317CT>T	c.(316-318)ctcfs	p.L106fs		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	106	PH.							p.L106fs*2(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAAGCTCAGGAGGGGGATGCT	0.592												
EGLN1	54583	broad.mit.edu	37	1	231502214	231502214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:231502213_231502213CT>C	uc001huv.2	-	4	4381	c.1225_1225AG>G	c.(1225-1227)ggtfs	p.G409fs	EGLN1_uc001huu.3_Frame_Shift_Del_p.G111fs	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	409					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	ACCCTCACACCTTTTTCACCT	0.393												
KIAA1804	84451	broad.mit.edu	37	1	233514890	233514891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:233514889_233514890T>TC	uc001hvt.4	+	8	2398_2399	c.2137_2138T>TC	c.(2137-2139)tccfs	p.S713fs	KIAA1804_uc001hvu.4_Frame_Shift_Ins_p.S159fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	713					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCTGAGTAGATCCCCCCAGAGA	0.540												
RBM34	23029	broad.mit.edu	37	1	235301432	235301434	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:235301431_235301433TCTC>T	uc001hwn.3	-	6	989_991	c.758_760GAGA>A	c.(757-762)gagagt>gAgt	p.S254del	RBM34_uc001hwo.3_Non-coding_Transcript|RBM34_uc001hwp.3_Non-coding_Transcript	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	254	RRM 1.					nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GTGGCAGCACTCTCCTCCTTAAA	0.320												
HEATR1	55127	broad.mit.edu	37	1	236767430	236767430	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGACACGGGCTAAAAAAACGT	0.473												
ACP1	52	broad.mit.edu	37	2	272081	272082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:272080_272081A>AC	uc002qwf.3	+	2	257_258	c.161_162A>AC	c.(160-162)aacfs	p.N54fs	ACP1_uc002qwd.2_Frame_Shift_Ins_p.N54fs|ACP1_uc002qwe.4_Intron|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Intron	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	54						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.G53V(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GAGATAGGGAACCCCCCTGACT	0.530												
C2orf63	130162	broad.mit.edu	37	2	55436777	55436777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:55436776_55436776AT>A	uc002ryi.2	-	5	1037	c.691_691AT>T	c.(691-693)ttgfs	p.L231fs	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Frame_Shift_Del_p.L109fs	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	231							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			CAAAACTGCAATTTTTTGTTC	0.318												
DYSF	8291	broad.mit.edu	37	2	71801492	71801492	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71801491_71801491AG>A	uc010fen.3	+	29	3533	c.3392_3392AG>A	c.(3391-3393)gagfs	p.E1131fs	DYSF_uc010fei.3_Frame_Shift_Del_p.E1130fs|DYSF_uc010feh.3_Frame_Shift_Del_p.E1099fs|DYSF_uc002sig.4_Frame_Shift_Del_p.E1099fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.E1144fs|DYSF_uc010fee.3_Frame_Shift_Del_p.E1113fs|DYSF_uc010fef.3_Frame_Shift_Del_p.E1130fs|DYSF_uc002sie.3_Frame_Shift_Del_p.E1113fs|DYSF_uc010feo.3_Frame_Shift_Del_p.E1145fs|DYSF_uc010fej.3_Frame_Shift_Del_p.E1100fs|DYSF_uc010fel.3_Frame_Shift_Del_p.E1100fs|DYSF_uc010fem.3_Frame_Shift_Del_p.E1114fs|DYSF_uc002sif.3_Frame_Shift_Del_p.E1114fs|DYSF_uc010fek.3_Frame_Shift_Del_p.E1131fs|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1113						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCCTTGAGGGGGCCCTG	0.642												
FAM123C	205147	broad.mit.edu	37	2	131520251	131520251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:131520250_131520250TC>T	uc021voy.1	+	0	605	c.605_605TC>T	c.(604-606)ctcfs	p.L202fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.L202fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.L202fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	202										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAAGCCTTCCTCCCCCCGGGT	0.687												
FAM168B	130074	broad.mit.edu	37	2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:131813194_131813196GGGA>G	uc002tsd.3	-	3	456_458	c.227_229TCCC>C	c.(226-231)tccccg>tCcg	p.P77del		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	77										endometrium(3)|lung(2)	5						TAGGGGTTCGGGGAGGAGGAGTA	0.591												
MBD5	55777	broad.mit.edu	37	2	149270475	149270475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:149270474_149270474AC>A	uc002twm.4	+	14	5446	c.4449_4449AC>A	c.(4447-4449)agafs	p.R1483fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Frame_Shift_Del_p.R741fs|MBD5_uc002twp.3_Frame_Shift_Del_p.R533fs	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1483						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GACAAATGAGACCCCCCAAAC	0.393												
KCNJ3	3760	broad.mit.edu	37	2	155566209	155566210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:155566208_155566209T>TC	uc002tyv.1	+	1	991_992	c.796_797T>TC	c.(796-798)tccfs	p.S266fs	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Frame_Shift_Ins_p.S266fs	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	266					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTTCTTGTGTCCCCCCTCACA	0.485												
CASP8	841	broad.mit.edu	37	2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)		
ERBB4	2066	broad.mit.edu	37	2	213403254	213403254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:213403253_213403253AT>A	uc002veg.1	-	0	100	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGCCGGCTTCATTTTTTGGAA	0.612										TSP Lung(8;0.080)		
SLC4A3	6508	broad.mit.edu	37	2	220505288	220505288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220505287_220505287CA>C	uc002vmo.4	+	20	3703	c.3494_3494CA>C	c.(3493-3495)gcafs	p.A1165fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.A1138fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.A688fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1138	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATGCCGGCAAAACACCAT	0.587												
PSMD1	5707	broad.mit.edu	37	2	231931680	231931681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:231931679_231931680G>GA	uc002vrn.2	+	4	526_527	c.364_365G>GA	c.(364-366)gaafs	p.E122fs	PSMD1_uc002vrm.2_Frame_Shift_Ins_p.E122fs|PSMD1_uc010fxu.2_5'UTR	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	122					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K124fs*11(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCTGAAGGAGAAAAAAAACCA	0.366												
BSN	8927	broad.mit.edu	37	3	49680381	49680382	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49680380_49680381C>CA	uc003cxe.4	+	2	1427_1428	c.1313_1314C>CA	c.(1312-1314)ccafs	p.P438fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	438					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAACCAGTCCAAAGCATGGCA	0.609												
KBTBD12	166348	broad.mit.edu	37	3	127703079	127703079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:127703078_127703078TC>T	uc010hsr.3	+	4	1832	c.1829_1829TC>T	c.(1828-1830)atcfs	p.I610fs	KBTBD12_uc003ejy.4_Frame_Shift_Del_p.I217fs|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Frame_Shift_Del_p.I185fs	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	610										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CGAGACCTCATCCCCCCGCCT	0.527												
AP2M1	1173	broad.mit.edu	37	3	183898975	183898976	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:183898974_183898975G>GA	uc021xig.1	+	5	710_711	c.667_668G>GA	c.(667-669)gaafs	p.E223fs	AP2M1_uc003fmw.3_Frame_Shift_Ins_p.E221fs|AP2M1_uc021xif.1_Frame_Shift_Ins_p.E39fs|AP2M1_uc011bqy.2_Frame_Shift_Ins_p.E93fs|AP2M1_uc011bqz.2_Frame_Shift_Ins_p.E39fs	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	223	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATTGTTATTGAAAAGCAGGGC	0.554												
TNK2	10188	broad.mit.edu	37	3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728												
KLF3	51274	broad.mit.edu	37	4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426												
AASDH	132949	broad.mit.edu	37	4	57220355	57220355	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:57220354_57220354GA>G	uc003hbn.3	-	7	1387	c.1234_1234TC>C	c.(1234-1236)cttfs	p.L412fs	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Frame_Shift_Del_p.L312fs|AASDH_uc011caa.2_Frame_Shift_Del_p.L259fs|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Frame_Shift_Del_p.L412fs|AASDH_uc003hbp.3_Frame_Shift_Del_p.L412fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	412					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCATCATCAAGAAAACACACT	0.373												
WDFY3	23001	broad.mit.edu	37	4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAG	0.423												
ARSJ	79642	broad.mit.edu	37	4	114824639	114824639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:114824638_114824638CA>C	uc003ibq.1	-	1	1480	c.592_592TG>G	c.(592-594)ggtfs	p.G198fs	ARSJ_uc010imu.1_Frame_Shift_Del_p.G198fs|ARSJ_uc010imv.1_Frame_Shift_Del_p.G26fs	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	198						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AAAAGGGAACCAAAAAAGGTA	0.438												
PHF17	79960	broad.mit.edu	37	4	129783052	129783052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:129783051_129783051TC>T	uc011cgy.2	+	8	1488	c.1174_1174TC>T	c.(1174-1176)tccfs	p.S392fs	PHF17_uc003igj.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igk.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igl.3_Frame_Shift_Del_p.S380fs|PHF17_uc003igm.3_Frame_Shift_Del_p.S392fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTGAGTGTTCCCCCCGGAA	0.597												
PCDH10	57575	broad.mit.edu	37	4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134071967_134071968G>GC	uc003iha.3	+	0	1498_1499	c.672_673G>GC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668												
FBXW7	55294	broad.mit.edu	37	4	153249361	153249362	+	Splice_Site	INS	-	-	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:153249360_153249361C>CT	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATGA	0.416			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
CLCN3	1182	broad.mit.edu	37	4	170628202	170628204	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:170628201_170628203AAAG>A	uc003ish.3	+	10	2492_2494	c.1933_1935AAAG>A	c.(1933-1935)aaa>A	p.K645del	CLCN3_uc003isi.3_In_Frame_Del_p.K645del|CLCN3_uc011cka.2_In_Frame_Del_p.K618del|CLCN3_uc011cjz.2_In_Frame_Del_p.K628del|CLCN3_uc003isj.2_In_Frame_Del_p.K618del	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	645					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTTGGATGCAAAAGAAGAATTCA	0.473												
NEIL3	55247	broad.mit.edu	37	4	178257356	178257356	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:178257355_178257355TA>T	uc003iut.2	+	3	624	c.507_507TA>T	c.(505-507)gttfs	p.V169fs	NEIL3_uc010irs.3_Frame_Shift_Del_p.V72fs	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	169					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAAGTGAAGTTAAAAAACAGA	0.378								Base excision repair (BER), DNA glycosylases				
ANKRD34B	340120	broad.mit.edu	37	5	79854592	79854592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:79854591_79854591TG>T	uc010jam.3	-	3	1598	c.1248_1248CA>A	c.(1246-1248)ccafs	p.P416fs	ANKRD34B_uc003kgw.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc010jan.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc021yax.1_Frame_Shift_Del_p.P416fs	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	416						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGGACCTGGGGGGATAT	0.463												
CAST	831	broad.mit.edu	37	5	96071876	96071876	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:96071875_96071875GA>G	uc011cuo.1	+	9	604	c.520_splice	c.e9-1	p.K174_splice	CAST_uc003klt.3_Splice_Site_p.K128_splice|CAST_uc021ybr.1_Splice_Site_p.K189_splice|CAST_uc003klx.3_Splice_Site_p.K170_splice|CAST_uc003klz.1_Splice_Site_p.K128_splice|CAST_uc011cup.2_Splice_Site_p.K79_splice|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Splice_Site_p.K128_splice|CAST_uc021ybt.1_Splice_Site_p.K106_splice|CAST_uc011cut.2_Intron|CAST_uc011cur.2_Splice_Site_p.K114_splice|CAST_uc011cus.2_Splice_Site_p.K128_splice|CAST_uc003kma.2_Splice_Site_p.K87_splice|CAST_uc003kmd.3_Splice_Site_p.K106_splice	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	128							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATTCTCACCAGAAAAAAGAAA	0.323												
PRR16	51334	broad.mit.edu	37	5	120022314	120022314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:120022313_120022313TC>T	uc003ksq.3	+	1	987	c.824_824TC>T	c.(823-825)ttcfs	p.F275fs	PRR16_uc003ksp.3_Frame_Shift_Del_p.F252fs|PRR16_uc003ksr.3_Frame_Shift_Del_p.F205fs	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	275	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTAACAGCTTCCCCCCTATC	0.532												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
CFB	629	broad.mit.edu	37	6	31919130	31919131	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31919129_31919130TGA>T	uc003nyj.4	+	15	2246_2247	c.1968_1969TGA>T	c.(1966-1971)tgtgagfs	p.C656fs	CFB_uc011dor.2_Frame_Shift_Del_p.C1158fs	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	656	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGGCAGCTGTGAGAGAGATGC	0.530												
UBR2	23304	broad.mit.edu	37	6	42641611	42641611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:42641610_42641610TG>T	uc011dur.2	+	36	4466	c.4168_4168TG>T	c.(4168-4170)tgtfs	p.C1390fs	UBR2_uc011dus.2_Frame_Shift_Del_p.C1035fs|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1390					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.C1390F(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGACATTTTTGTAAACTTTT	0.358												
RARS2	57038	broad.mit.edu	37	6	88234285	88234286	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:88234284_88234285TAG>T	uc003pme.3	-	10	1024_1025	c.964_965CTA>A	c.(964-966)tatfs	p.Y322fs	RARS2_uc003pmc.3_Frame_Shift_Del_p.Y147fs|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	322					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CCTGGTTGCATAGAGAGAAGTC	0.406												
NT5DC1	221294	broad.mit.edu	37	6	116542291	116542291	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:116542290_116542290GA>G	uc003pwj.3	+	6	698	c.603_603GA>G	c.(601-603)gtgfs	p.V201fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.V151fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	201							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		CTGAATCTGTGAAAAAATGGC	0.328												
ZUFSP	221302	broad.mit.edu	37	6	116967058	116967059	+	Frame_Shift_Ins	INS	-	-	T	rs141299898	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:116967057_116967058G>GT	uc003pxf.2	-	8	1768_1769	c.1508_1509C>AC	c.(1507-1509)aacfs	p.N503fs	ZUFSP_uc010kef.2_Frame_Shift_Ins_p.N307fs	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCTC	0.337												
CLDN20	49861	broad.mit.edu	37	6	155596997	155596997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:155596996_155596996AC>A	uc003qql.2	+	1	523	c.143_143AC>A	c.(142-144)cacfs	p.H48fs	TFB1M_uc003qqj.4_Intron|TFB1M_uc003qqk.3_Intron|CLDN20_uc021zhh.1_Frame_Shift_Del_p.H48fs	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	Homo sapiens claudin 20 (CLDN20), mRNA.	48					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTACAGCTGCACGGGCTCTGG	0.552												
DLL1	28514	broad.mit.edu	37	6	170594674	170594675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:170594673_170594674G>GC	uc003qxm.3	-	5	1315_1316	c.845_846C>GC	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCAGAAAAGGCCCCCCCAGCC	0.599												
ZNF479	90827	broad.mit.edu	37	7	57188741	57188741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:57188740_57188740AT>A	uc010kzo.3	-	4	653	c.382_382AT>T	c.(382-384)tgcfs	p.C128fs		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTTTTACAGCATTTTTTAAAT	0.363												
ZAN	7455	broad.mit.edu	37	7	100350136	100350136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100350135_100350135AC>A	uc003uwj.3	+	13	2572	c.2407_2407AC>A	c.(2407-2409)accfs	p.T803fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.T803fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	803	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGCCCACCACCCCCACTGA	0.527												
SLC26A4	5172	broad.mit.edu	37	7	107340600	107340600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:107340599_107340599TA>T	uc003vep.3	+	14	1910	c.1686_1686TA>T	c.(1684-1686)tttfs	p.F562fs	SLC26A4_uc011kmb.2_Frame_Shift_Del_p.F149fs|SLC26A4_uc011kmc.2_Frame_Shift_Del_p.F123fs|SLC26A4_uc011kmd.2_Frame_Shift_Del_p.F131fs	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	562	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCGATGGTTTTAAAAAATGTA	0.338									Pendred syndrome			
JHDM1D	80853	broad.mit.edu	37	7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				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)					CCAGTTCCTCCTTTTTTTCAC	0.338												
ABCF2	10061	broad.mit.edu	37	7	150915962	150915962	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150915961_150915961TA>T	uc003wjo.1	-	9	1129	c.1018_splice	c.e9-1	p.N340_splice	ABCF2_uc003wjp.3_Splice_Site_p.N340_splice	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	340						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGTAGTTCTAAAAAAGACC	0.488												
MTMR9	66036	broad.mit.edu	37	8	11162509	11162510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:11162508_11162509C>CA	uc003wtm.3	+	3	974_975	c.576_577C>CA	c.(574-579)cacaaafs	p.H192fs	MTMR9_uc010lrx.3_Frame_Shift_Ins_p.H85fs|MTMR9_uc011kxa.2_Frame_Shift_Ins_p.H107fs	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	192	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GCTATTACCACAAAAAAAATGG	0.455												
MTUS1	57509	broad.mit.edu	37	8	17612310	17612310	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:17612309_17612309AT>A	uc003wxv.3	-	1	1482	c.1008_1008AT>T	c.(1006-1008)aatfs	p.N336fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Del_p.N336fs|MTUS1_uc010lsz.3_Frame_Shift_Del_p.N336fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	336						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCTCTCTCAGATTTTGGCCCA	0.418												
PTK2B	2185	broad.mit.edu	37	8	27311779	27311779	+	Frame_Shift_Del	DEL	C	C	-	rs142584961		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:27311778_27311778GC>G	uc003xfn.2	+	33	3511	c.2703_2703GC>G	c.(2701-2703)ctgfs	p.L901fs	PTK2B_uc022ate.1_Frame_Shift_Del_p.L901fs|PTK2B_uc003xfp.2_Frame_Shift_Del_p.L901fs|PTK2B_uc003xfq.2_Frame_Shift_Del_p.L859fs	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	901	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCTGTCAGCTGCCCCCCGAGG	0.632												
WHSC1L1	54904	broad.mit.edu	37	8	38178604	38178606	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38178603_38178605ATCT>A	uc003xli.3	-	7	2312_2314	c.1794_1796AGAT>T	c.(1792-1797)aagatc>aaTc	p.598_599KI>N	WHSC1L1_uc011lbm.2_In_Frame_Del_p.598_599KI>N|WHSC1L1_uc010lwe.3_In_Frame_Del_p.598_599KI>N|WHSC1L1_uc003xlj.3_In_Frame_Del_p.598_599KI>N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	598					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCCTTTTTGATCTTCTTCTTTG	0.360			T	NUP98	AML							
RAB2A	5862	broad.mit.edu	37	8	61504441	61504442	+	Frame_Shift_Ins	INS	-	-	A	rs141013917		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:61504440_61504441T>TA	uc003xud.2	+	5	684_685	c.386_387T>TA	c.(385-387)gtafs	p.V129fs	RAB2A_uc011lef.2_Frame_Shift_Ins_p.V105fs	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	129					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGAAGAGAAGTAAAAAAAGAAG	0.386												
ZHX1	11244	broad.mit.edu	37	8	124266059	124266059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124266058_124266058TC>T	uc003yqe.3	-	2	2739	c.2129_2129GA>A	c.(2128-2130)gacfs	p.D710fs	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Frame_Shift_Del_p.D710fs|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Frame_Shift_Del_p.D710fs|ZHX1_uc022bak.1_Frame_Shift_Del_p.D710fs	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	710					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATAACGGGTGTCCCCAAACCA	0.448												
IKBKAP	8518	broad.mit.edu	37	9	111681575	111681576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:111681574_111681575T>TC	uc004bdm.4	-	6	1127_1128	c.607_608A>GA	c.(607-609)gatfs	p.D203fs	IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.D89fs|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	203					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACTGTCCATCCCCCCGCCAG	0.386												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
DAB2IP	153090	broad.mit.edu	37	9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGGCCCAGACCCCCCCCACA	0.634												
GTF3C5	9328	broad.mit.edu	37	9	135929265	135929265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135929264_135929264GA>G	uc004ccj.4	+	5	1260	c.923_923GA>G	c.(922-924)cgafs	p.R308fs	GTF3C5_uc010mzz.2_Frame_Shift_Del_p.R183fs|GTF3C5_uc004cci.4_Frame_Shift_Del_p.R308fs	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	308						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TATGACCCCCGAAAAAACCCA	0.493												
ENTPD2	954	broad.mit.edu	37	9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTAGAGGCACCCCCCAGGT	0.647												
KIN	22944	broad.mit.edu	37	10	7820854	7820854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:7820853_7820853GT>G	uc001ijt.3	-	4	600	c.506_506AC>C	c.(505-507)actfs	p.T169fs	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Frame_Shift_Del_p.T63fs	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	169					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAATTTGGCAGTTTTTTCTTC	0.458												
FAM107B	83641	broad.mit.edu	37	10	14709682	14709684	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:14709681_14709683ATTC>A	uc001ina.1	-	1	653_655	c.419_421GAAT>T	c.(418-423)gaattt>gTtt	p.140_141EF>V	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	72										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTTCTCGAAATTCTTCTTCCTA	0.409												
NSUN6	221078	broad.mit.edu	37	10	18834895	18834896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:18834894_18834895T>TA	uc010qcp.1	-	10	1795_1796	c.1377_1378A>TA	c.(1375-1380)tttattfs	p.F459fs	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	459							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATTTTGCAATAAAAAAACCTA	0.396												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527												
AGAP7	653268	broad.mit.edu	37	10	51465346	51465347	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:51465345_51465346A>AG	uc001jio.3	-	6	1236_1237	c.1110_1111T>CT	c.(1108-1113)ccctctfs	p.P370fs	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	370	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATGAGGAGAGGGGGGCGGGT	0.530												
TET1	80312	broad.mit.edu	37	10	70332865	70332865	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70332864_70332864AC>A	uc001jok.4	+	1	1274	c.769_769AC>A	c.(769-771)accfs	p.T257fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	257					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCAAAGAGCAACCCCCAAAGT	0.443												
H2AFY2	55506	broad.mit.edu	37	10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAG	0.592												
PPAPDC1A	196051	broad.mit.edu	37	10	122263340	122263340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:122263339_122263339GT>G	uc001lev.1	+	1	418	c.66_66GT>G	c.(64-66)gagfs	p.E22fs	PPAPDC1A_uc010qtd.2_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc009xzl.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001lew.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001lex.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	22					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTTTACAGAGTTTTTGGATC	0.458												
MTG1	92170	broad.mit.edu	37	10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642												
ART5	116969	broad.mit.edu	37	11	3660980	3660981	+	Frame_Shift_Ins	INS	-	-	GG	rs74708481		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:3660979_3660980T>TGG	uc001lyb.1	-	1	1072_1073	c.679_680A>CCA	c.(679-681)catfs	p.H227fs	ART5_uc001lyc.1_Frame_Shift_Ins_p.H227fs|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.500												
MICAL2	9645	broad.mit.edu	37	11	12183705	12183706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12183704_12183705T>TG	uc001mjz.3	+	2	290_291	c.2_3T>TG	c.(1-3)atgfs	p.M1fs	MICAL2_uc010rch.1_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mjy.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mka.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc010rci.2_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mkb.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mkc.3_Frame_Shift_Ins_p.M1fs	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCCTGAACCATGGGGGAAAACG	0.564												
SOX6	55553	broad.mit.edu	37	11	16133369	16133369	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:16133368_16133368AG>A	uc001mme.3	-	6	951	c.918_918CT>T	c.(916-918)cctfs	p.P306fs	SOX6_uc001mmd.3_Frame_Shift_Del_p.P296fs|SOX6_uc001mmf.3_Frame_Shift_Del_p.P293fs|SOX6_uc001mmg.3_Frame_Shift_Del_p.P293fs	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	293					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATGTTATTCCAGGGGGGAAGA	0.473												
RAG1	5896	broad.mit.edu	37	11	36595554	36595554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:36595553_36595553CA>C	uc021qgb.1	+	0	699	c.699_699CA>C	c.(697-699)agcfs	p.S233fs	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Frame_Shift_Del_p.S233fs	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	233	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGCAGCTCAGCAAAAAACTCA	0.522									Familial Hemophagocytic Lymphohistiocytosis			
SF1	7536	broad.mit.edu	37	11	64540917	64540917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64540916_64540916AG>A	uc001obb.2	-	2	674	c.222_222CT>T	c.(220-222)cctfs	p.P74fs	SF1_uc010rnn.2_Frame_Shift_Del_p.P48fs|SF1_uc001oaz.2_Frame_Shift_Del_p.P199fs|SF1_uc001oba.2_Frame_Shift_Del_p.P74fs|SF1_uc001obd.2_Frame_Shift_Del_p.P74fs|SF1_uc001obc.2_Frame_Shift_Del_p.P74fs|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	74					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.P74fs*63(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCTCAGGGTTAGGGGGGATGC	0.453												
C11orf2	738	broad.mit.edu	37	11	64876853	64876853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64876852_64876852AG>A	uc001ocr.1	+	5	1584	c.1544_1544AG>A	c.(1543-1545)aagfs	p.K515fs	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Frame_Shift_Del_p.K391fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	515					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CCTGGGGAGAAGGGGGGTGCC	0.622												
LTBP3	4054	broad.mit.edu	37	11	65308616	65308617	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65308615_65308616A>AT	uc001oej.3	-	19	3143_3144	c.2874_2875T>AT	c.(2872-2877)ccctgcfs	p.P958fs	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Frame_Shift_Ins_p.P388fs|LTBP3_uc010roi.2_Frame_Shift_Ins_p.P841fs|LTBP3_uc001oei.3_Frame_Shift_Ins_p.P958fs|LTBP3_uc010roj.2_Frame_Shift_Ins_p.P659fs|LTBP3_uc010rok.1_Frame_Shift_Ins_p.P869fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	958	TB 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TAGACTGGGCAGGGGTAGATTT	0.614											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MRE11A	4361	broad.mit.edu	37	11	94189473	94189473	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:94189472_94189472AT>A	uc009ywj.2	-	13	1862	c.1542_1542AT>T	c.(1540-1542)aatfs	p.N514fs	MRE11A_uc001peu.2_Frame_Shift_Del_p.N511fs|MRE11A_uc001pev.2_Frame_Shift_Del_p.N511fs			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	511					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTAGTATTTTTTTGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder			
ST14	6768	broad.mit.edu	37	11	130058083	130058084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:130058082_130058083C>CG	uc001qfw.3	+	1	348_349	c.155_156C>CG	c.(154-156)ccgfs	p.P52fs	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	52					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.P52P(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AAGCATGGCCCGGGGCGCTGGG	0.599												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
TM7SF3	51768	broad.mit.edu	37	12	27127036	27127037	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27127035_27127036G>GCT	uc010sjl.2	-	11	1813_1814	c.1575_1576C>AGC	c.(1573-1578)gagcgcfs	p.E525fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	525						integral to membrane|plasma membrane		p.R526C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GTCACTCGGCGCTCTCTCTCTT	0.500												
ARID2	196528	broad.mit.edu	37	12	46244967	46244967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:46244966_46244966AC>A	uc001ros.1	+	14	3060	c.3060_3060AC>A	c.(3058-3060)gcafs	p.A1020fs	ARID2_uc001ror.3_Frame_Shift_Del_p.A1020fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.A476fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.A647fs|ARID2_uc001rou.1_Frame_Shift_Del_p.A354fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1020	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTCACCAGCACCCCCACCAC	0.517			"""N, S, F"""		hepatocellular carcinoma							
SMARCC2	6601	broad.mit.edu	37	12	56563591	56563593	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56563590_56563592CCTT>C	uc001skb.3	-	22	2529_2531	c.2423_2425AAGG>G	c.(2422-2427)aaggag>aGag	p.808_809KE>R	SMARCC2_uc001skd.3_In_Frame_Del_p.839_840KE>R|SMARCC2_uc001ska.3_In_Frame_Del_p.839_840KE>R|SMARCC2_uc001skc.3_In_Frame_Del_p.838_839KE>R|SMARCC2_uc010sqf.2_In_Frame_Del_p.728_729KE>R	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	808	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTCGGACTCCTTCTCACTGTC	0.557												
MBD6	114785	broad.mit.edu	37	12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629												
ACACB	32	broad.mit.edu	37	12	109604775	109604775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109604774_109604774TG>T	uc001tob.3	+	2	881	c.762_762TG>T	c.(760-762)tttfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Del_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCACACGCTTTGGGGGGGATC	0.617												
DIAPH3	81624	broad.mit.edu	37	13	60582732	60582732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:60582731_60582731CA>C	uc001vht.3	-	8	1180	c.961_961TG>G	c.(961-963)gacfs	p.D321fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.D58fs|DIAPH3_uc001vhw.1_Frame_Shift_Del_p.D310fs|DIAPH3_uc010aed.1_Frame_Shift_Del_p.D275fs|DIAPH3_uc010aee.1_Frame_Shift_Del_p.D251fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	321	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.D321D(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAAATCTGTCAATTTTTTTT	0.313												
TDRD3	81550	broad.mit.edu	37	13	61109249	61109249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:61109248_61109248CG>C	uc001vhz.4	+	11	2508	c.1720_1720CG>C	c.(1720-1722)cggfs	p.R574fs	TDRD3_uc001via.3_Frame_Shift_Del_p.R574fs|TDRD3_uc010aeg.3_Frame_Shift_Del_p.R667fs|TDRD3_uc001vib.4_Frame_Shift_Del_p.R573fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	574	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.R574Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCAGTTTTACCGGGCAGAAGT	0.388												
TBC1D4	9882	broad.mit.edu	37	13	76055593	76055593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:76055592_76055592GC>G	uc001vjl.1	-	0	659	c.312_312GC>C	c.(310-312)ggcfs	p.G104fs	TBC1D4_uc010aer.2_Frame_Shift_Del_p.G104fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.G104fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	104	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACGGACTAGTGCCCCCCGAGG	0.711												
TUBGCP3	10426	broad.mit.edu	37	13	113181367	113181367	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:113181366_113181366TA>T	uc001vse.1	-	13	1634	c.1447_splice	c.e13-1	p.V483_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.V473_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.V483_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	483					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAAAGGACCTAAAAAGAAAA	0.328												
GAS6	2621	broad.mit.edu	37	13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGC	0.647												
INSM2	84684	broad.mit.edu	37	14	36005057	36005058	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:36005056_36005057C>CT	uc001wth.1	+	0	1809_1810	c.1598_1599C>CT	c.(1597-1599)actfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCCGTCCACTTTTTTTAGCT	0.629												
FAM179B	23116	broad.mit.edu	37	14	45497476	45497476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:45497475_45497475GA>G	uc001wvw.3	+	9	3810	c.3601_3601GA>G	c.(3601-3603)gaafs	p.E1201fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.E1201fs|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1201							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGAAAAGAAGGAAAAAAATTC	0.303												
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:62242910_62242910AT>A	uc001xft.3	+	4	736	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGAC	0.358												
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587												
ELL3	80237	broad.mit.edu	37	15	44089043	44089044	+	Splice_Site	DEL	CT	CT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44089042_44089043CCT>C	uc001zsx.1	-	3	369	c.-616_splice	c.e3+1		C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Splice_Site|SERINC4_uc010bds.1_Splice_Site_p.V70_splice|SERINC4_uc001zte.1_Splice_Site_p.V70_splice|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGTCCCTTACCTCTCTCTGGA	0.505												
UNC13C	440279	broad.mit.edu	37	15	54307148	54307148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:54307147_54307147CT>C	uc021smr.1	+	0	2047	c.2047_2047CT>C	c.(2047-2049)cttfs	p.L683fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.L683fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	683					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAAACAGTCTTTTTGACCA	0.398												
RNF111	54778	broad.mit.edu	37	15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:59376342_59376342GC>G	uc002afv.3	+	8	2591	c.2312_2312GC>G	c.(2311-2313)cgcfs	p.R771fs	RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R771C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCACATGAACGCCCCCCACCC	0.443												
SNRPA1	6627	broad.mit.edu	37	15	101833235	101833236	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:101833234_101833235TTC>T	uc002bww.3	-	1	302_303	c.225_226GAA>A	c.(223-228)agaatafs	p.R75fs	SNRPA1_uc002bwx.3_Intron|SNRPA1_uc010bpc.3_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA.	75						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTACCATATTCTGTTGTTGT	0.381												
CLDN6	9074	broad.mit.edu	37	16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:3065455_3065455AC>A	uc021tbb.1	-	0	568	c.568_568GT>T	c.(568-570)tccfs	p.S190fs	CLDN6_uc002csu.4_Frame_Shift_Del_p.S190fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	190					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAG	0.647												
USP7	7874	broad.mit.edu	37	16	9000393	9000394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:9000392_9000393G>GT	uc002czl.2	-	12	1517_1518	c.1318_1319C>AC	c.(1318-1320)acafs	p.T440fs	USP7_uc010uyk.1_Frame_Shift_Ins_p.T341fs|USP7_uc010uyj.1_Frame_Shift_Ins_p.T341fs|USP7_uc002czk.2_Frame_Shift_Ins_p.T424fs|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	440					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTAGGATCTGTTTTTTGCAAA	0.332												
ZC3H7A	29066	broad.mit.edu	37	16	11850178	11850178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:11850177_11850177AT>A	uc002dbk.3	-	19	2676	c.2478_2478AT>T	c.(2476-2478)aatfs	p.N826fs	ZC3H7A_uc002dbi.3_Frame_Shift_Del_p.N14fs|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.N826fs|ZC3H7A_uc002dbm.2_Frame_Shift_Del_p.N736fs	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	826						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CACTTTTTTCATTTTTTTGAC	0.353												
PLEKHG4	25894	broad.mit.edu	37	16	67322100	67322100	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:67322099_67322099GC>G	uc010cef.3	+	19	3549	c.3250_3250GC>G	c.(3250-3252)gccfs	p.A1084fs	PLEKHG4_uc002eso.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc002esp.4_Frame_Shift_Del_p.A891fs|PLEKHG4_uc002esq.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc002ess.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc010ceg.3_Frame_Shift_Del_p.A1003fs	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1084					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A1084S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CATTGCCGTAGCCCCGTTTGA	0.607												
FA2H	79152	broad.mit.edu	37	16	74752943	74752943	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:74752942_74752942TG>T	uc002fde.2	-	4	806	c.730_730CA>A	c.(730-732)agcfs	p.S244fs	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	244					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTC	0.617												
TAF1C	9013	broad.mit.edu	37	16	84214674	84214674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:84214673_84214673AG>A	uc002fhn.3	-	10	1604	c.1362_1362CT>T	c.(1360-1362)cctfs	p.P454fs	TAF1C_uc010vnz.2_Frame_Shift_Del_p.P122fs|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Frame_Shift_Del_p.P122fs|TAF1C_uc002fhm.3_Frame_Shift_Del_p.P361fs|TAF1C_uc010vnx.2_Frame_Shift_Del_p.P428fs|TAF1C_uc010vny.2_Frame_Shift_Del_p.P45fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	454					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GATGAAGAGTAGGGGGGAGGC	0.592												
CAMTA2	23125	broad.mit.edu	37	17	4883438	4883439	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4883437_4883438G>GC	uc010cku.2	-	8	1660_1661	c.1248_1249C>GC	c.(1246-1251)gggcagfs	p.G416fs	CAMTA2_uc002gag.2_Frame_Shift_Ins_p.G392fs|CAMTA2_uc002gah.2_Frame_Shift_Ins_p.G393fs|CAMTA2_uc002gai.2_Frame_Shift_Ins_p.G395fs|CAMTA2_uc010ckv.1_Frame_Shift_Ins_p.G40fs|CAMTA2_uc010vsu.2_Frame_Shift_Ins_p.G206fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	393					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTACTCCCTGCCCCCCTCCAT	0.649												
BCL6B	255877	broad.mit.edu	37	17	6930927	6930927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:6930926_6930926CG>C	uc010clt.1	+	8	1490	c.1428_1428CG>C	c.(1426-1428)ctcfs	p.L476fs	BCL6B_uc002geg.2_Frame_Shift_Del_p.L476fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	476						nucleus	zinc ion binding			skin(1)	1						ACCACATTCTCGGGGGGCCCT	0.622												
MYOCD	93649	broad.mit.edu	37	17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:12642605_12642605GC>G	uc002gno.2	+	6	976	c.677_677GC>G	c.(676-678)ggcfs	p.G226fs	MYOCD_uc002gnn.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGC	0.582												
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632												
HEXIM1	10614	broad.mit.edu	37	17	43227526	43227531	+	In_Frame_Del	DEL	GGAGCT	GGAGCT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:43227525_43227530GGGAGCT>G	uc002iig.3	+	0	2842_2847	c.968_973GGGAGCT>G	c.(967-975)cgggagctg>cGtg	p.EL328del		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	328	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGCTGGA	0.665												
HOXB2	3212	broad.mit.edu	37	17	46622002	46622003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:46622001_46622002C>CG	uc002inm.3	-	0	392_393	c.272_273G>CG	c.(271-273)ccgfs	p.P91fs		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	91					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A92fs*74(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ACTcgggggccgggggggcagc	0.698												
AXIN2	8313	broad.mit.edu	37	17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
BPTF	2186	broad.mit.edu	37	17	65971983	65971985	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:65971982_65971984TTAC>T	uc002jgf.3	+	26	8695_8697	c.8634_8636TTAC>T	c.(8632-8637)cgttac>cgTc	p.Y2880del	BPTF_uc002jge.3_In_Frame_Del_p.Y2863del|BPTF_uc021uca.1_In_Frame_Del_p.Y680del|BPTF_uc002jgg.3_In_Frame_Del_p.Y595del|BPTF_uc002jgh.3_In_Frame_Del_p.Y397del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	3006				K -> Q (in Ref. 5; AAH67234).	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATAACTGTCGTTACTACAATCCA	0.389												
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303												
SDK2	54549	broad.mit.edu	37	17	71429901	71429901	+	Frame_Shift_Del	DEL	C	C	-	rs137890595		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:71429900_71429900GC>G	uc010dfm.3	-	9	1283	c.1283_1283GC>C	c.(1282-1284)gcgfs	p.A428fs	SDK2_uc010dfn.2_Frame_Shift_Del_p.A107fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	428	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGTCGGGGCGCCCCCGAGGT	0.567												
CBX8	57332	broad.mit.edu	37	17	77768605	77768608	+	Frame_Shift_Del	DEL	GAGG	GAGG	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:77768604_77768607TGAGG>T	uc002jxd.2	-	4	1115_1118	c.997_1000CCTCA>A	c.(997-1002)ctcatcfs	p.L333fs		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	333					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATCCTGGCGATGAGGGAGGGCCTT	0.681												
ASXL3	80816	broad.mit.edu	37	18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGT	0.378												
MBD3	53615	broad.mit.edu	37	19	1584646	1584646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1584645_1584645AC>A	uc002ltj.3	-	2	324	c.302_302GT>T	c.(301-303)gtgfs	p.V101fs	MBD3_uc002ltk.3_Frame_Shift_Del_p.V69fs|MBD3_uc002ltl.1_Frame_Shift_Del_p.V101fs	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	101					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCTGGCGCACGGGCAGCGC	0.697												
DAPK3	1613	broad.mit.edu	37	19	3964830	3964830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3964829_3964829TG>T	uc002lzc.1	-	1	317	c.223_223CA>A	c.(223-225)aacfs	p.N75fs	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Frame_Shift_Del_p.N75fs	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	75	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGATGTTGGGGTGCCGG	0.612												
EEF2	1938	broad.mit.edu	37	19	3982258	3982260	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3982257_3982259GCTT>G	uc002lze.3	-	4	859_861	c.776_778AAGC>C	c.(775-780)aagctg>aCtg	p.259_260KL>T		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	259						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCCCACAGCTTCTTCATCAT	0.616												
OR10H1	26539	broad.mit.edu	37	19	15917904	15917904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:15917903_15917903AT>A	uc002nbq.2	-	0	1034	c.945_945AT>T	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438												
PIK3R2	5296	broad.mit.edu	37	19	18273319	18273319	+	Splice_Site	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:18273318_18273318TG>T	uc002nia.1	+	9	1621	c.1109_splice	c.e9+2	p.R370_splice	PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	370	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GACCCTCAGGTGGGGGCCTGT	0.592												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38948158_38948159C>CTG	uc002oit.3	+	16	1943_1944	c.1813_1814C>CTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTATGCTCCCTGTGTGTGTGT	0.535												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
U2AF2	11338	broad.mit.edu	37	19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:56173905_56173905TG>T	uc002qlu.3	+	5	1579	c.524_524TG>T	c.(523-525)ctgfs	p.L175fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTG	0.602												
CHGB	1114	broad.mit.edu	37	20	5903414	5903414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:5903413_5903413TA>T	uc002wmg.3	+	3	929	c.623_623TA>T	c.(622-624)atafs	p.I208fs	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	208						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCTTCAGCTATAAAAAAAGAG	0.488												
CST4	1472	broad.mit.edu	37	20	23667826	23667826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23667825_23667825AC>A	uc002wto.1	-	1	298	c.242_242GT>T	c.(241-243)gtgfs	p.V81fs		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAA	0.552												
NRIP1	8204	broad.mit.edu	37	21	16338967	16338967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:16338966_16338966GT>G	uc021whl.1	-	0	1548	c.1548_1548AC>C	c.(1546-1548)aacfs	p.N516fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.N516fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	516	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAGGGCTGGTGTTTTTTTCTA	0.383												
FANCB	2187	broad.mit.edu	37	X	14863040	14863040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:14863039_14863039TA>T	uc004cwg.1	-	7	2134	c.1866_1866TA>A	c.(1864-1866)ttafs	p.L622fs	FANCB_uc004cwh.1_Frame_Shift_Del_p.L622fs	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	622					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CTTCTAGACTTAAAAAAACTC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
SH3KBP1	30011	broad.mit.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						AGAGGATGACAGGGGGGAGGG	0.652												
GSPT2	23708	broad.mit.edu	37	X	51487865	51487865	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:51487864_51487864CA>C	uc004dpl.3	+	0	1384	c.1142_1142CA>C	c.(1141-1143)ccafs	p.P381fs		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	381					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGCTTCAGTCCAAAAAAGGAC	0.388												
SPIN3	169981	broad.mit.edu	37	X	57020676	57020676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:57020675_57020675GT>G	uc022bxv.1	-	0	706	c.706_706AC>C	c.(706-708)cccfs	p.P236fs	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Frame_Shift_Del_p.P236fs|SPIN3_uc004dux.1_Frame_Shift_Del_p.P236fs	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	236					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TACACAGAGGGTTTTGCTTCT	0.403												
CXorf26	51260	broad.mit.edu	37	X	75393486	75393489	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:75393485_75393488TGTGA>T	uc004ecl.1	+	2	299	c.96_splice	c.e2+1	p.D32_splice	CXorf26_uc004eck.1_Non-coding_Transcript	NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	32										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						ATGGCAACGATGTGAGTATGACTC	0.534												
PNMA3	29944	broad.mit.edu	37	X	152225667	152225667	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:152225666_152225666AG>A	uc022cho.1	+	0	254	c.254_254AG>A	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Del_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0.527												
