Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSMD1_chr8_2930361_4999914	3796005	TATATAGA others(58): Show TATATAGATATATATCATGTATAGATATAGATATATATCTATCATAGATA TAGATATATATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03195.hp1 HG01884.hp2 HG02280.hp1 HG03195.hp1	a0002 a0002	a0002c0022 a0002c0053 a0002c0054 a0002c0022 a0002c0053 a0002c0054	a0002c0022t0036 a0002c0053t0022 a0002c0054t0079 a0002c0022t0036 a0002c0053t0022 a0002c0054t0079	a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096	3	126	0.0238	-65	c.819 others(84): Show c.819-42028_819-41964delGATAGATATATATCTATATCTATGAT AGATATATATCTATATCTATACATGATATATATCTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920877	AAAAGAAA others(58): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	-65	c.85+ others(82): Show c.85+73390_85+73454delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542630	ATATATAT others(58): Show ATATATATATGTATATATATATATATATATATATATATATATGTATATAT ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	390	0.0026	-65	c.230 others(82): Show c.230+7380_230+7444delAAATATATATATATATATATATACATAT ATATATATATATATATATATATATATACATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CYBRD1_chr2_171517474_171563129	171558417	TCATATAT others(58): Show TCATATATTTATATATAATATTTACTATTAATATTATATATTTATATATA ATATTTACTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02809.hp1 HG02055.hp1 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0069 a0001c0001t0004g0024 a0001c0001t0004g0069	3	394	0.0076	-65	c.35 others(76): Show c.3591_*3655delCATATATTTATATATAATATTTACTATTAATATT ATATATTTATATATAATATTTACTATTATTA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		289		chr2	TogoVar
CYFIP1_chr15_22862052_22985368	22964288	ACACACAC others(58): Show ACACACACACACACACACACACACACAACTGGCGGCCCCACCAGCAGACT CCGCAACCTCATCACT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01192.hp1 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0009 a0002c0004t0009 a0002c0003t0009 a0002c0004t0009	a0002c0003t0009g0074 a0002c0004t0009g0098 a0002c0003t0009g0074 a0002c0004t0009g0098	2	342	0.0059	-65	c.-7+ others(82): Show c.-7+15934_-7+15998delAGTGATGAGGTTGCGGAGTCTGCTGGTG GGGCCGCCAGTTGTGTGTGTGTGTGTGTGTGTGTGTG	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
DACH1_chr13_71432966_71872204	71735432	TATACGGA others(58): Show TATACGGATATACGTGTATATGGGATATACACGTATACGGGATATACGTG TATATGGGATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG03139.hp1 others(1): Show HG02257.hp1 HG02486.hp1 HG03139.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002	a0002c0002t0001g0072 a0002c0002t0001g0093 a0002c0002t0002g0073 others(1): Show a0002c0002t0001g0072 a0002c0002t0001g0093 a0002c0002t0002g0073 a0003c0003t0002g0002	4	102	0.0392	-65	c.849 others(84): Show c.849-53587_849-53523delGTGTATATCCCATATACACGTATATC CCGTATACGTGTATATCCCATATACACGTATATCCGTAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DAP_chr5_10674230_10766234	10731167	AGGGGGAA others(58): Show AGGGGGAATCTTTCTGTACTGAGAGCCCTGGTGGGGGGAATCTTTCTCTA TTGAGAGCCCTAGTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA21309.hp2 HG01109.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0263 a0001c0001t0005g0284 a0001c0001t0001g0263 a0001c0001t0005g0284	2	372	0.0054	-65	c.152 others(84): Show c.152+16943_152+17007delCCACTAGGGCTCTCAATAGAGAAAGA TTCCCCCCACCAGGGCTCTCAGTACAGAAAGATTCCCCC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DCC_chr18_52335197_53540899	53204046	ATATCATA others(58): Show ATATCATATGCTTTACTGCAAATATATAGTTACATTTGATTAACAATGTA AACAATTTGATATGAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02486.hp1 HG02572.hp2 others(2): Show HG02080.hp2 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0025 a0001c0002 a0002c0001 a0002c0025	a0001c0002t0002 a0002c0001t0001 a0002c0001t0005 others(2): Show a0001c0002t0002 a0002c0001t0001 a0002c0001t0005 a0002c0001t0007 a0002c0025t0001	a0001c0002t0002g0005 a0002c0001t0001g0044 a0002c0001t0005g0088 others(2): Show a0001c0002t0002g0005 a0002c0001t0001g0044 a0002c0001t0005g0088 a0002c0001t0007g0074 a0002c0025t0001g0015	5	114	0.0439	-65	c.157 others(84): Show c.1574-1125_1574-1061delATGTAAACAATTTGATATGAGTATCA TATGCTTTACTGCAAATATATAGTTACATTTGATTAACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCP1B_chr12_1941053_2009457	1958798	GCTTTTTC others(58): Show GCTTTTTCTATAAACCTCCTGGAAGGAAACAGGGGAAAAGCTCCCCAACG TCGCTTTGGGCAATGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	378	0.0027	-65	c.523 others(82): Show c.523-3303_523-3239delTCATTGCCCAAAGCGACGTTGGGGAGCT TTTCCCCTGTTTCCTTCCAGGAGGTTTATAGAAAAAG	DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	5/8			chr12	TogoVar
DDX60_chr4_168211294_168323752	168297269	AAAAGAAA others(58): Show AAAAGAAAGAAAGAAAGAGAGAGAGAGACGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02809.hp1 others(4): Show HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0001t0001 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0003t0001g0012 a0001c0008t0001g0038	7	270	0.0259	-65	c.724 others(82): Show c.724-3389_724-3325delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCGTCTCTCTCTCTCTTTCTTTCTTTCTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DGKB_chr7_14140049_14907751	14211289	ATGTGATA others(58): Show ATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0019 a0001c0015t0032g0019	1	148	0.0068	-65	c.212 others(86): Show c.2123-33203_2123-33139delAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211339	TTTTACTC others(58): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0041 a0002c0007t0006g0041	1	148	0.0068	-65	c.212 others(86): Show c.2123-33253_2123-33189delTATCACAAAACATGAGAGTAAAAT CACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211435	GTGTTTTG others(58): Show GTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0120 a0001c0002t0012g0120	1	148	0.0068	-65	c.212 others(86): Show c.2123-33349_2123-33285delTGAGAGTAAATATCACAAAACATG AGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211489	TATTTACT others(58): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0030 a0002c0007t0006g0030	1	148	0.0068	-65	c.212 others(86): Show c.2123-33403_2123-33339delTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211661	TATTTACT others(58): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02280.hp2 HG02523.hp2 others(2): Show HG00609.hp1 HG02280.hp2 HG02523.hp2 HG03831.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0002c0005t0011	a0001c0001t0002g0036 a0001c0001t0002g0117 a0001c0002t0001g0052 others(2): Show a0001c0001t0002g0036 a0001c0001t0002g0117 a0001c0002t0001g0052 a0001c0002t0004g0088 a0002c0005t0011g0079	5	148	0.0338	-65	c.212 others(86): Show c.2123-33575_2123-33511delTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2485741	AGAAGGGA others(58): Show AGAAGGGAGGGAAGGAAGGGAGAGAAGGAAGGAAGGGAGAAAAGGGAGAG AAGGGAGAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG02071.hp1 others(16): Show HG01167.hp1 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02300.hp1 HG02486.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp2 NA18960.hp1 NA19005.hp1 NA19070.hp1 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0016 a0004c0004 a0005c0006 a0011c0007	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0005t0004 a0003c0003t0002 a0003c0016t0002 a0004c0004t0009 a0005c0006t0004 a0011c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0012g0027 a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0004g0035 a0002c0005t0004g0004 a0003c0003t0002g0013 a0003c0016t0002g0040 a0004c0004t0009g0032 a0005c0006t0004g0034 a0011c0007t0001g0028	19	50	0.3800	-65	c.109 others(84): Show c.109+15011_109+15075delCTTCCTTCTCTCCCTTCTCTCCCTTT TCTCCCTTCCTTCCTTCTCTCCCTTCCTTCCCTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185307	ATATATAT others(58): Show ATATATATATATATATATGTGTATATATATATATGTATATATATATGTGT GTATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0076 a0001c0002t0021g0076	1	147	0.0068	-65	c.271 others(86): Show c.2719+43514_2719+43578delTATATATATATATATATGTGTATA TATATATATGTATATATATATGTGTGTATATATATATGTAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579629	AAAAAAAA others(58): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0226 a0001c0002t0003g0226	1	284	0.0035	-65	c.101 others(84): Show c.101-46345_101-46281delAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579631	AAAAAAAA others(58): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0261 a0001c0001t0008g0261	1	284	0.0035	-65	c.101 others(84): Show c.101-46343_101-46279delAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579633	AAAAAAAA others(58): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02257.hp2 HG03041.hp2 others(1): Show HG00733.hp2 HG02257.hp2 HG03041.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0008 a0001c0002t0030 a0004c0009t0013 a0001c0001t0008 a0001c0002t0030 a0004c0009t0013	a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0002t0030g0188 others(1): Show a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0002t0030g0188 a0004c0009t0013g0113	4	284	0.0141	-65	c.101 others(84): Show c.101-46341_101-46277delAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016387	CGATGCCT others(58): Show CGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-65	c.73+ others(84): Show c.73+108423_73+108487delATGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1042790	GTGTGGGT others(58): Show GTGTGGGTGGTGGGTGTGGGTGGTGGATGTGGGTGGTGGGTGTGGGTGGT GGGTGTGGGTGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-65	c.73+ others(84): Show c.73+134850_73+134914delATGTGGGTGGTGGGTGTGGGTGGTGG GTGTGGGTGGTGGATGTGGGTGGTGGGTGTGGGTGGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMBT1_chr10_122555754_122648736	122633342	GTAAGTGT others(58): Show GTAAGTGTGCGCCCAGAAGAATGCCTTGGGGCCCCACAGACCTTTCAAGA GGGAATAAATGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp2 HG02027.hp1 others(28): Show HG01192.hp1 HG01934.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02895.hp2 HG02897.hp1 HG03942.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18964.hp1 NA18966.hp1 NA18973.hp1 NA18977.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp2 NA19010.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0010 a0023 a0040 a0050 a0059 a0067 a0083	a0001c0004 a0002c0002 a0003c0017 others(8): Show a0001c0004 a0002c0002 a0003c0017 a0007c0109 a0010c0008 a0023c0021 a0040c0093 a0050c0097 a0059c0087 a0067c0076 a0083c0079	a0001c0004t0001 a0002c0002t0001 a0003c0017t0001 others(8): Show a0001c0004t0001 a0002c0002t0001 a0003c0017t0001 a0007c0109t0001 a0010c0008t0001 a0023c0021t0005 a0040c0093t0001 a0050c0097t0001 a0059c0087t0001 a0067c0076t0001 a0083c0079t0001	a0001c0004t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0004 others(25): Show a0001c0004t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0003c0017t0001g0098 a0003c0017t0001g0099 a0003c0017t0001g0100 a0003c0017t0001g0101 a0007c0109t0001g0063 a0010c0008t0001g0202 a0023c0021t0005g0010 a0040c0093t0001g0048 a0050c0097t0001g0025 a0059c0087t0001g0170 a0067c0076t0001g0217 a0083c0079t0001g0109	31	282	0.1099	-65	c.654 others(81): Show c.6548+69_6548+133delAGTGTGCGCCCAGAAGAATGCCTTGGGGC CCCACAGACCTTTCAAGAGGGAATAAATGGTGCTTA	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DNAH8_chr6_38710311_39035792	38874238	TCCCTCCC others(58): Show TCCCTCCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCT CCCCTCCCCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp1 others(10): Show HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp1 HG01934.hp1 HG02698.hp2 HG03516.hp2 HG04184.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0103 a0008c0008 a0001c0001 a0001c0103 a0008c0008	a0001c0001t0001 a0001c0103t0001 a0008c0008t0001 a0001c0001t0001 a0001c0103t0001 a0008c0008t0001	a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0093 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0103t0001g0118 a0008c0008t0001g0136 a0008c0008t0001g0188 a0008c0008t0001g0194	13	284	0.0458	-65	c.762 others(82): Show c.7620+887_7620+951delTCCCTCCCCTTCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPP6_chr7_154047398_154899285	154267644	ATATATGC others(58): Show ATATATGCACACATACATATATATGTGTGTGTATATATTTATCCCTTATA AACACATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0026 a0002c0026t0026	a0002c0026t0026g0006 a0002c0026t0026g0006	1	38	0.0263	-65	c.244 others(86): Show c.244-178355_244-178291delATATGTGTGTGTATATATTTATCC CTTATAAACACATATACACACGTATATGCACACATACATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DRC1_chr2_26396920_26461711	26418540	TTATAAAT others(58): Show TTATAAATTATATATAATTTATATATAATATATATTATATATAAATTATA TATAATTTATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG02886.hp2 HG03453.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0257 a0008c0012t0001g0258 a0008c0012t0001g0257 a0008c0012t0001g0258	2	384	0.0052	-65	c.244 others(82): Show c.244-2730_244-2666delTTATATATAATATATATTATATATAAAT TATATATAATTTATATAATATATAAATTATATATAAT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DSCAML1_chr11_117422772_117802216	117577442	TTCCTTCC others(58): Show TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0031 a0001c0015t0001g0031	1	194	0.0052	-65	c.512 others(84): Show c.512-44985_512-44921delGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
EEPD1_chr7_36148254_36306538	36219605	GAGGAAGG others(58): Show GAGGAAGGAAGGAAAGAAGGAAAGAAGGAAAGAAAAGAAGAAGGAGGAAG AGGAAGGAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 NA20129.hp1 HG01255.hp2 HG02572.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0010 a0001c0001t0039 a0001c0010t0025 a0001c0001t0010 a0001c0001t0039 a0001c0010t0025	a0001c0001t0010g0105 a0001c0001t0039g0002 a0001c0010t0025g0060 a0001c0001t0010g0105 a0001c0001t0039g0002 a0001c0010t0025g0060	3	346	0.0087	-65	c.879 others(84): Show c.879-19374_879-19310delGGAAGGAAAGAAGGAAAGAAGGAAAG AAAAGAAGAAGGAGGAAGAGGAAGGAAGGAAAGAAGGAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47322542	AAACATAT others(58): Show AAACATATGCAATGGATACTATTCAGCCTTAAAAAAGAATTTCTGTCATT TGTGACAACATGAATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03540.hp2 NA19240.hp1 HG02965.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257	3	356	0.0084	-65	c.-18 others(76): Show c.-1849_-1785delAACATATGCAATGGATACTATTCAGCCTTAAAAA AGAATTTCTGTCATTTGTGACAACATGAATC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding		1412		chr17	TogoVar
EGFL6_chrX_13564601_13638575	13620324	CACTTACC others(58): Show CACTTACCACTATACATGTGGTAAGTAAAAGATTAGCATAACCTTTTCCT TTTCAAACTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	302	0.0033	-65	c.118 others(84): Show c.1183+1126_1183+1190delTTCCTTTTCAAACTTCCTTTTACTTA CCACTATACATGTGGTAAGTAAAAGATTAGCATAACCTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EIPR1_chr2_3183970_3382818	3295550	CAGCCCAT others(58): Show CAGCCCATCCTCTCTCCACACACACACCCTCCATCCAGCCCTCCTCTCTC TGCACACCCTCCATCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	250	0.0040	-65	c.260 others(84): Show c.260-38160_260-38096delTGATGGAGGGTGTGCAGAGAGAGGAG GGCTGGATGGAGGGTGTGTGTGTGGAGAGAGGATGGGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELN_chr7_74023173_74074907	74072574	TGAGGCAG others(58): Show TGAGGCAGGAGAATCACTTGGACACGGGAGGCAGAGGTTGCGGTGAGCCG AGGTCACACCATTGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	366	0.0027	-65	c.38 others(76): Show c.3875_*3939delGAGGCAGGAGAATCACTTGGACACGGGAGGCAGA GGTTGCGGTGAGCCGAGGTCACACCATTGCG	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding		2668		chr7	TogoVar
ELOVL7_chr5_60746791_60849269	60819059	GGGAGGGG others(58): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAG AGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01515.hp1 others(2): Show HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	5	258	0.0194	-65	c.-85 others(84): Show c.-85-19894_-85-19830delTCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819069	GGGAGGGG others(58): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(43): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG01069.hp1 HG01074.hp1 HG01168.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18997.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0199 a0001c0001t0002g0002 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0003g0006 a0001c0001t0003g0150 a0001c0001t0003g0162 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0005g0022 a0001c0001t0008g0205 a0002c0002t0001g0061 a0003c0004t0001g0085	46	258	0.1783	-65	c.-85 others(84): Show c.-85-19904_-85-19840delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
EML1_chr14_99788413_99947060	99928045	TGGTGATG others(58): Show TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0106 a0001c0003t0002g0106	1	288	0.0035	-65	c.190 others(84): Show c.1909+7169_1909+7233delGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML5_chr14_88607431_88797953	88796747	ATTATATG others(58): Show ATTATATGTTTTATATATTATATATTATATATATTATATGTTATATATAT TATATATTATATACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	332	0.0030	-65	c.-43 others(76): Show c.-4309_-4245delATGTATATAATATATAATATATATAACATATAAT ATATATAATATATAATATATAAAACATATAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3795		chr14	TogoVar
EML6_chr2_54718662_54977025	54907900	TTAGATAG others(58): Show TTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGA TAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02970.hp2 others(5): Show HG02145.hp2 HG02630.hp2 HG02970.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0014 a0001c0002 a0001c0005 a0001c0014	a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0005t0001 a0001c0005t0010 a0001c0014t0003	a0001c0002t0001g0236 a0001c0002t0005g0230 a0001c0002t0010g0010 others(5): Show a0001c0002t0001g0236 a0001c0002t0005g0230 a0001c0002t0010g0010 a0001c0002t0010g0056 a0001c0005t0001g0081 a0001c0005t0001g0221 a0001c0005t0010g0060 a0001c0014t0003g0128	8	264	0.0303	-65	c.341 others(84): Show c.3410-3015_3410-2951delGATAGATAAGATAGATAGATAGATAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENOSF1_chr18_665318_717630	667239	AGATGGTG others(58): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGA TGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0093 a0002c0002t0009g0093	1	418	0.0024	-65	c.70 others(76): Show c.7001_*7065delACCATCACCATCTCCATCACCATCCCATCACCAT CACCATCTCCATCACCATCACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3078		chr18	TogoVar
EP300_chr22_41087592_41185077	41167572	GTGTGTGT others(58): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATAT ATATATATATATATAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG02723.hp1 others(2): Show HG01109.hp2 HG02647.hp1 HG02723.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0030 a0001c0009 a0001c0010 a0001c0030	a0001c0009t0002 a0001c0010t0005 a0001c0030t0042 a0001c0009t0002 a0001c0010t0005 a0001c0030t0042	a0001c0009t0002g0199 a0001c0009t0002g0200 a0001c0010t0005g0201 others(2): Show a0001c0009t0002g0199 a0001c0009t0002g0200 a0001c0010t0005g0201 a0001c0010t0005g0202 a0001c0030t0042g0041	5	300	0.0167	-65	c.387 others(82): Show c.3875-873_3875-809delGTGTGTGTGTATATATATATATATATAT ATATATATATATATATATATATATATATATATAATGT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
ERC1_chr12_986223_1500931	1085175	AGATTACA others(58): Show AGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTG TTGTTGAAAGTGCTGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(33): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG01993.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0009c0008	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(32): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0040 a0001c0001t0049 a0001c0001t0050 a0001c0001t0062 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0124 a0001c0001t0126 a0002c0002t0005 a0002c0002t0035 a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0072 a0002c0002t0100 a0002c0002t0105 a0002c0002t0115 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0004c0005t0122 a0009c0008t0041	a0001c0001t0005g0041 a0001c0001t0007g0044 a0001c0001t0007g0048 others(33): Show a0001c0001t0005g0041 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0010g0009 a0001c0001t0011g0034 a0001c0001t0013g0005 a0001c0001t0015g0023 a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0050g0144 a0001c0001t0062g0147 a0001c0001t0083g0130 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0119g0061 a0001c0001t0124g0050 a0001c0001t0126g0030 a0002c0002t0005g0133 a0002c0002t0035g0143 a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0055g0137 a0002c0002t0072g0145 a0002c0002t0100g0134 a0002c0002t0105g0148 a0002c0002t0115g0049 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0004c0005t0122g0057 a0009c0008t0041g0140	36	162	0.2222	-65	c.108 others(84): Show c.1086+1626_1086+1690delATTATTATTATTATTGTTGTTGTTGA AAGTGCTGCGATTACAGGCAATATGCCTATGCCTGGCCC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1085206	ATTATTAT others(58): Show ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGCGATTACAGGCAATAT GCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0058 a0003c0004t0003g0058	1	162	0.0062	-65	c.108 others(84): Show c.1086+1651_1086+1715delAAAGTGCTGCGATTACAGGCAATATG CCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087917	ATTGTTGT others(58): Show ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02258.hp1 others(3): Show HG01243.hp1 HG02145.hp2 HG02258.hp1 HG02809.hp2 HG02965.hp1 HG03130.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 others(3): Show a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0100 a0009c0008t0041	a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 others(3): Show a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0055g0137 a0002c0002t0100g0134 a0009c0008t0041g0140	6	162	0.0370	-65	c.108 others(84): Show c.1086+4390_1086+4454delATTATTATTATTGTTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087970	ATTATTAT others(58): Show ATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0051 a0002c0006t0051	a0002c0006t0051g0081 a0002c0006t0051g0081	1	162	0.0062	-65	c.108 others(84): Show c.1086+4455_1086+4519delGTTATTATTATTGTTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089675	ATTGTTGT others(58): Show ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG03516.hp1 HG02109.hp2 HG02818.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0067 a0002c0002t0047 a0002c0006t0051 a0001c0001t0067 a0002c0002t0047 a0002c0006t0051	a0001c0001t0067g0121 a0002c0002t0047g0104 a0002c0006t0051g0081 a0001c0001t0067g0121 a0002c0002t0047g0104 a0002c0006t0051g0081	3	162	0.0185	-65	c.108 others(84): Show c.1086+6148_1086+6212delATTATTATTATTGTTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089728	ATTATTAT others(58): Show ATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show HG01261.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 others(1): Show a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138	a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 others(1): Show a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095	4	162	0.0247	-65	c.108 others(84): Show c.1086+6160_1086+6224delGTTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090313	GTTATTAT others(58): Show GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show HG01261.hp1 HG02145.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 others(1): Show a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138	a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 others(1): Show a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095	4	162	0.0247	-65	c.108 others(84): Show c.1086+6745_1086+6809delATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090443	GTTATTAT others(58): Show GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0140 a0002c0002t0140	a0002c0002t0140g0108 a0002c0002t0140g0108	1	162	0.0062	-65	c.108 others(84): Show c.1086+7112_1086+7176delATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090692	ATGCCTGG others(58): Show ATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01346.hp2 others(8): Show HG00140.hp1 HG01243.hp1 HG01346.hp2 HG02258.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0050 a0001c0001t0061 a0001c0001t0062 others(8): Show a0001c0001t0050 a0001c0001t0061 a0001c0001t0062 a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0072 a0002c0002t0076 a0002c0002t0100	a0001c0001t0050g0144 a0001c0001t0061g0153 a0001c0001t0062g0147 others(8): Show a0001c0001t0050g0144 a0001c0001t0061g0153 a0001c0001t0062g0147 a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0072g0145 a0002c0002t0076g0146 a0002c0002t0100g0134	11	162	0.0679	-65	c.108 others(84): Show c.1086+7177_1086+7241delGTGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720176	TTCTTCTT others(58): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0072 a0001c0001t0009g0073 a0001c0001t0002g0072 a0001c0001t0009g0073	2	74	0.0270	-65	c.271 others(86): Show c.2712+14530_2712+14594delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERICH5_chr8_98059568_98098609	98073480	ATATATGT others(58): Show ATATATGTATATATATATATATATATATATATATATGTATATATATATAT ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01167.hp2 others(7): Show HG00280.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG02258.hp1 HG03130.hp1 HG03831.hp2 NA19000.hp2 NA19065.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0011c0010t0002	a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0001g0294 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0001g0294 a0001c0001t0001g0306 a0001c0001t0002g0100 a0001c0001t0002g0147 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0011c0010t0002g0273	10	442	0.0226	-65	c.58+ others(80): Show c.58+8754_58+8818delTATATGTATATATATATATATATATATATA TATATGTATATATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar

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