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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC77_chr12_396644_447642	420646	TACACATA others(139): Show TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	432	0.0023	-146	c.413 others(17): Show c.413+2025_413+2170del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420669	TTCCATTA others(139): Show TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	432	0.0023	-146	c.413 others(17): Show c.413+2106_413+2251del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293307	CCCACCTT others(139): Show CCCACCTTCCCATCCTCACCTGCCAAAGCTCACCTTCCTGTCCCCTCGCC TGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTG CCCCCTCACCTGCCACGGCCCACCTTCCCGTCCTCACCTGCCACGGT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18969.hp1 NA19056.hp2 NA18941.hp1 NA18969.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0141	3	284	0.0106	-146	c.411 others(17): Show c.4112+720_4112+865del	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42BPB_chr14_102927380_103062549	102998901	GGCATTTT others(139): Show GGCATTTTAGGGAGGGGGTCTTGGGCGGTAGAGACAGAGGACCCCGGGGC CCACGTGAGCCCCAGGGAGCACAGGCATTTTAGGGAGGGGGTCTTGGGCG GTAGAGACAGAGGACCCCGGGGCCCACGTGAGCCCCAGGGAGCACAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01109.hp2 others(24): Show HG00140.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02886.hp1 HG03195.hp1 HG03239.hp1 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0022 a0001c0027 a0002c0005 a0004c0017 a0010c0026 a0012c0014	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(16): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0035 a0001c0002t0013 a0001c0002t0020 a0001c0002t0027 a0001c0002t0034 a0001c0002t0045 a0001c0003t0006 a0001c0003t0043 a0001c0004t0006 a0001c0007t0021 a0001c0022t0031 a0001c0027t0008 a0002c0005t0006 a0004c0017t0014 a0010c0026t0014 a0012c0014t0047	a0001c0001t0004g0074 a0001c0001t0005g0264 a0001c0001t0012g0296 others(24): Show a0001c0001t0004g0074 a0001c0001t0005g0264 a0001c0001t0012g0296 a0001c0001t0035g0109 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0013g0003 a0001c0002t0013g0004 a0001c0002t0013g0005 a0001c0002t0020g0173 a0001c0002t0027g0006 a0001c0002t0034g0108 a0001c0002t0045g0314 a0001c0003t0006g0078 a0001c0003t0006g0115 a0001c0003t0043g0280 a0001c0004t0006g0072 a0001c0004t0006g0073 a0001c0007t0021g0193 a0001c0007t0021g0204 a0001c0022t0031g0177 a0001c0027t0008g0309 a0002c0005t0006g0118 a0002c0005t0006g0119 a0004c0017t0014g0248 a0010c0026t0014g0294 a0012c0014t0047g0320	27	320	0.0844	-146	c.596 others(15): Show c.596+518_596+663del	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	5/36			chr14	TogoVar
CDH4_chr20_61247261_61945617	61350450	AACACCTC others(139): Show AACACCTCTGACCTTGCCTCTCCCACCCAGCGTCAGGCAGACACCTCCCC CTCCCCCAGTGCTGCAGAGGCCAGCGGAACACCTCTGACCTTGCCTCTCC CACCCAGGGTCAGGCAGGCCCCCCACAGTGCTGCAGAGGCCAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0016 a0001c0001t0028g0016	1	106	0.0094	-146	c.169 others(19): Show c.169+95532_169+95677del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP46_chr10_132803392_132947570	132843987	AGTGGGTG others(139): Show AGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCGGTGGGTGTTCCC AGGGTGCTGTGGGGCTGTGGTCTCGGTGGGTGTTCCCAGGGTGCTGTGGG GCTCTGGTCTCGGTGGGTGTTCCCAGGGTGCTGTGGAGCTGCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0044 a0044	a0044c0055 a0044c0055	a0044c0055t0001 a0044c0055t0001	a0044c0055t0001g0183 a0044c0055t0001g0183	1	246	0.0041	-146	c.643 others(19): Show c.6438+1924_6438+2069del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1980287	CGTGGGGA others(139): Show CGTGGGGAGGACGGGTGAACGAGAGACTGTATCTAAGCCACCGGCACAGA TCGCAGTGGGCGCCCTCTTACCGCGTGGGGAGGACGGGTGAACGAGAGAC TGTATCTAAGCCACCGGCACAGATCGCAGTGGGCGCCCTCTTACCGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0033 a0033	a0033c0100 a0033c0100	a0033c0100t0002 a0033c0100t0002	a0033c0100t0002g0028 a0033c0100t0002g0028	1	278	0.0036	-146	c.500 others(17): Show c.500+4953_500+5098del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CHD8_chr14_21380199_21461123	21387223	TGCCTGTA others(139): Show TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAG GTTAGGAGTTCAAGACCACCCTGGCCAACATAGCGAAACTCTGTCCCTAC TAAAAATACCAAAATTAGCCGGGAGTCAGCCAGGCGTGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0125 a0001c0014t0001g0125	1	260	0.0039	-146	c.718 others(19): Show c.7183-1193_7183-1048del	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	37/37			chr14	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375778	AGTGTTGA others(139): Show AGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTG AGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTG TGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	133	0.0075	-146	c.160 others(17): Show c.160+1106_160+1251del	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9			chr15	TogoVar
CLCC1_chr1_108924505_108968484	108933081	GCTTAAGC others(139): Show GCTTAAGCGATCATCCTCCCTCAACCTTCCAAAGTGCTAGGACTGTAGGC ATGAGCCACTGCACCTGGCCTAAAATTACATTGTTACAGGCACGTAAGTA ACACTTCCTGGATCCAAAAATGTGTATTCTGCATTTCAACAACTGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp1 HG01515.hp2 others(21): Show HG01099.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02300.hp1 HG02486.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp1 NA18948.hp1 NA18968.hp1 NA18985.hp1 NA19001.hp2 NA19085.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 a0002c0003 a0002c0004 a0002c0005	a0002c0003t0009 a0002c0003t0011 a0002c0003t0012 others(4): Show a0002c0003t0009 a0002c0003t0011 a0002c0003t0012 a0002c0003t0040 a0002c0004t0021 a0002c0005t0012 a0002c0005t0018	a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0123 others(15): Show a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0123 a0002c0003t0009g0135 a0002c0003t0009g0147 a0002c0003t0009g0233 a0002c0003t0011g0028 a0002c0003t0011g0120 a0002c0003t0011g0181 a0002c0003t0011g0182 a0002c0003t0011g0184 a0002c0003t0012g0118 a0002c0003t0012g0119 a0002c0003t0012g0285 a0002c0003t0040g0137 a0002c0004t0021g0129 a0002c0005t0012g0030 a0002c0005t0018g0015	24	394	0.0609	-146	c.46 others(15): Show c.46-726_*46-581del	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	12/12			chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1328178	AGACACAT others(139): Show AGACACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCC TCCTCTGCAGACACATTCCATCCAGCTCCTCCTCTACAGGATACATTCCA TCCAGCTCCTCCTCTACAGGATACATTTCATCCAGCTACTCCTCTAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	370	0.0027	-146	c.108 others(19): Show c.1080+1956_1080+2101del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
COG7_chr16_23383493_23458189	23439135	ACAACAGA others(139): Show ACAACAGAGTTAAACTGTGTCTCCAAAAAAAAAAAAAAAAAAAAAGATAG GCATATGATCCAGCAATTCCACTTCTGAGTAGATCCCTAAAGGAATTGAA AGCTGGAACTCAAACAGACAGATCATGCCACTGCACTCCAGCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG03225.hp2 others(2): Show HG02559.hp1 HG02818.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0145 a0001c0001t0002g0196 a0001c0001t0002g0004 a0001c0001t0002g0145 a0001c0001t0002g0196	5	272	0.0184	-146	c.604 others(17): Show c.604+3196_604+3341del	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	4/16			chr16	TogoVar
COMMD9_chr11_36267292_36294424	36286046	CAAGGAAA others(139): Show CAAGGAAAGGAAATAAAATGTGTGCAGATCAGAAAGGAAGAAATAAAACT GTCTCTATTTGTAAATAACATGATTTTCCATGTAGAACATTCCAAGAAAT ATACCAAAAACTCCTAGAAACAATGAGTTTAGCAAGTTTGCATGTAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	448	0.0022	-146	c.51+ others(15): Show c.51+3170_51+3315del	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPLX1_chr4_779957_831129	826317	GCGGGGGC others(139): Show GCGGGGGCGGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGG GGCGGACCCGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGT GGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGCGGGGGGTGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	416	0.0024	-146	c.-49 others(9): Show c.-497_-352del	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		189		chr4	TogoVar
CPQ_chr8_96640242_97148501	97120282	CCAACTCC others(139): Show CCAACTCCAGATTTATGGCATAGATAAATTAGTGGGCAATCATTTGCTCT ATAAAATGATTCTTCATTTTACAAGCTTATTCACTGCCGCATTCCTTTAC TGATCTATTCCTTTACTGATCTATTCCTTTACTGATCCCTCTATACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0044 a0001c0002t0002g0039 a0001c0001t0002g0044 a0001c0002t0002g0039	2	126	0.0159	-146	c.125 others(21): Show c.1256-22718_1256-22573del	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CST8_chr20_23486117_23501010	23490263	ATATATAT others(139): Show ATATATATATTAATTATATATATATAAAATATATATAATTTATATATATA AAATATATATAATTTATATATATAAATTATATATAAAATATATATAATTT ATATATATAAATTATATATAAAATATATATAATTTATATATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02615.hp2 HG03041.hp2 HG01361.hp1 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009	3	440	0.0068	-146	c.-12 others(11): Show c.-1222_-1077del	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		853		chr20	TogoVar
CXCL17_chr19_42423278_42447946	42436057	CAAACTAA others(139): Show CAAACTAAAATAAAATATTTCTCCTTCACTAGACTCTGAACCATTGGTTC AGTAGTCATTCAGGTACGTGGTTCCTAACACATGGTAGGCATTTGGCAAA TGTTTGTTCAACACGTGGATGGATAAGTTGTTTGGAGAGGACCCTTA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp1 HG03486.hp1 others(1): Show HG01261.hp2 HG02723.hp1 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 others(1): Show a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236	4	368	0.0109	-146	c.80- others(15): Show c.80-2347_80-2202del	CXCL17	ENSG00000189377.9	transcript	ENST00000601181.6	protein_coding	1/3			chr19	TogoVar
CYTH2_chr19_48464369_48487314	48478713	GCCTGGGT others(139): Show GCCTGGGTCTGACGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGACG GAGGAGGGGCAGGGGCCTGGACACCTGGGTCTGACGGAGGAGGGGCCGGG GGCCTGGACCCCTGGGTCTGACGGAGGAGGGGCCGGGGGCCTGGACT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	366	0.0027	-146	c.111 others(17): Show c.1112+145_1113-241del	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCBLD2_chr3_98790941_98906695	98836731	CCCCCATC others(139): Show CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0036 a0011c0021t0036	a0011c0021t0036g0136 a0011c0021t0036g0136	1	330	0.0030	-146	c.572 others(19): Show c.572-11511_572-11366del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DHFR_chr5_80621226_80659983	80652801	CAAGTTGA others(139): Show CAAGTTGAATGCATTTTGTCACCCACAAGACAAAACGTGTTAACCCCTTG TGGTTTACTTTATCTATAAAATAGAGATAACAATAGTTCCTGCTTCTAGG GTTGTTGTGGGAATTAAAGACTTAGAATAATGTTCAGCCTCTAATCA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	376	0.0027	-146	c.136 others(17): Show c.136+1061_136+1206del	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	2/5			chr5	TogoVar
DHRS12_chr13_51762993_51809163	51774637	AGTATTCT others(139): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02630.hp2 others(1): Show HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0189 others(1): Show a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0189 a0002c0002t0003g0207	4	420	0.0095	-146	c.364 others(15): Show c.364-749_364-604del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774912	AGTATTCT others(139): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG02976.hp2 HG01106.hp2 HG01361.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0232 a0002c0002t0003g0249 a0002c0002t0003g0176 a0002c0002t0003g0232 a0002c0002t0003g0249	3	420	0.0071	-146	c.364 others(16): Show c.364-1024_364-879del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775462	AGTATTCT others(139): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0207 a0002c0002t0003g0154 a0002c0002t0003g0175 a0002c0002t0003g0207	3	420	0.0071	-146	c.363 others(17): Show c.363+1452_364-1429del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DNAAF5_chr7_721699_791475	791329	TCAGCACA others(139): Show TCAGCACACTTGTTTCTTCTGTATCACGAACCCCTGTCCCAGGGAAGGGT GTTCAGGATGTCAAAGCAAAAGCTTTATCAGAAAGTTGTCTTGGGCAGGG TGTGGTGGCCCACGGCTGTAATCGCAACACTTTGGGAGGCTGAGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0231 a0003c0003t0007g0231	1	378	0.0027	-146	c.56 others(11): Show c.5677_*5822del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding		4855		chr7	TogoVar
DPH7_chr9_137549444_137583925	137565250	ACTGTCTG others(139): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	340	0.0029	-146	c.641 others(14): Show c.641-242_641-97del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565722	TCTGTCTG others(139): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03669.hp1 HG01978.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0248 a0001c0001t0002g0265 a0001c0001t0001g0248 a0001c0001t0002g0265	2	340	0.0059	-146	c.641 others(15): Show c.641-714_641-569del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565774	GGGGTGAC others(139): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	340	0.0029	-146	c.641 others(15): Show c.641-766_641-621del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566102	TCTGTCTG others(139): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	340	0.0029	-146	c.641 others(16): Show c.641-1094_641-949del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566754	TCTGTCTG others(139): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01257.hp2 others(3): Show HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0272 a0001c0001t0002g0001 a0001c0001t0002g0272	6	340	0.0177	-146	c.641 others(17): Show c.641-1746_641-1601del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568230	ACTCTGTC others(139): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	340	0.0029	-146	c.641 others(17): Show c.641-3222_641-3077del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DSCAML1_chr11_117422772_117802216	117769189	TATATTTT others(139): Show TATATTTTATATATATTATATATTTTATATATATTGTATATATTATATAT TTTATATATGTATATATTATATATTTTATATATTTATATATTATATATTT TATATATTTATATATATTTTTATATAATATATATTTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01257.hp1 others(8): Show HG00280.hp1 HG00741.hp2 HG01257.hp1 HG01515.hp1 HG02293.hp1 HG02738.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18979.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0016 a0001c0030 a0001c0035 others(7): Show a0001c0016 a0001c0030 a0001c0035 a0001c0049 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0005c0031	a0001c0016t0001 a0001c0030t0003 a0001c0035t0003 others(8): Show a0001c0016t0001 a0001c0030t0003 a0001c0035t0003 a0001c0049t0004 a0002c0001t0004 a0002c0002t0004 a0002c0004t0002 a0002c0006t0001 a0002c0010t0002 a0002c0010t0004 a0005c0031t0001	a0001c0016t0001g0078 a0001c0030t0003g0183 a0001c0035t0003g0170 others(8): Show a0001c0016t0001g0078 a0001c0030t0003g0183 a0001c0035t0003g0170 a0001c0049t0004g0049 a0002c0001t0004g0082 a0002c0002t0004g0086 a0002c0004t0002g0017 a0002c0006t0001g0164 a0002c0010t0002g0018 a0002c0010t0004g0058 a0005c0031t0001g0101	11	194	0.0567	-146	c.511 others(17): Show c.511+7456_511+7601del	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
ELL2_chr5_95880098_95966851	95927400	TACACACA others(139): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02486.hp2 HG00544.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0242 a0002c0002t0001g0126 a0002c0002t0001g0242	2	314	0.0064	-146	c.196 others(17): Show c.196-8001_196-7856del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EML6_chr2_54718662_54977025	54937445	TGGGAGGC others(139): Show TGGGAGGCTGAGATAAAAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCA GTGAGCCATGATCATGCCACTGTACTCCAGCCTGGGCCATAGAGCAAGAC TCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGAAAAG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	264	0.0038	-146	c.400 others(19): Show c.4004+8695_4004+8840del	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41			chr2	TogoVar
ENOX1_chr13_43208130_43791972	43470241	TATATATA others(139): Show TATATATACATATATATATACATATATATACACATATATATACATATATA TATACACATATATATACATATATATACACATATATATATGTATATATATA CGTATATATATATGTATATATATACGTATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02083.hp1 HG01074.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0168 a0001c0002t0001g0079 a0001c0001t0005g0168 a0001c0002t0001g0079	2	188	0.0106	-146	c.-75 others(19): Show c.-75+13622_-75+13767del	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENPP6_chr4_184083706_184222873	184219971	GGAAGGGA others(139): Show GGAAGGGAAGGGAAAGGGTAAGGGGAAGGGGAAGGGAAGGAGGAAAAAAG AATAGAAGGGAAGAAGGGAAAGGAAGAGAAGAAGGGAAGAAAAGCGAAGA AGGGAAGGGAAGGGAAGGGAAGGGGAGGGGAAGGGAAGGGAGGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG03098.hp2 HG02280.hp1 HG02818.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0002c0001t0001 a0002c0001t0020 a0001c0003t0004 a0002c0001t0001 a0002c0001t0020	a0001c0003t0004g0309 a0002c0001t0001g0310 a0002c0001t0020g0308 a0001c0003t0004g0309 a0002c0001t0001g0310 a0002c0001t0020g0308	3	320	0.0094	-146	c.-22 others(11): Show c.-2298_-2153del	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2099		chr4	TogoVar
ENPP6_chr4_184083706_184222873	184219980	GGGAAAGG others(139): Show GGGAAAGGGTAAGGGGAAGGGGAAGGGAAGGAGGAAAAAAGAATAGAAGG GAAGAAGGGAAAGGAAGAGAAGAAGGGAAGAAAAGCGAAGAAGGGAAGGG AAGGGAAGGGAAGGGGAGGGGAAGGGAAGGGAGGGAAAGAAGGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(110): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(6): Show a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0001 a0002c0013 a0004c0006 a0005c0008 a0006c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015 a0001c0002t0019 a0001c0002t0023 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0017 a0001c0005t0002 a0001c0012t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0010 a0002c0001t0011 a0002c0013t0001 a0004c0006t0014 a0005c0008t0001 a0006c0015t0002	a0001c0002t0001g0128 a0001c0002t0001g0151 a0001c0002t0001g0159 others(109): Show a0001c0002t0001g0128 a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0178 a0001c0002t0001g0184 a0001c0002t0001g0223 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0008g0129 a0001c0002t0012g0182 a0001c0002t0015g0190 a0001c0002t0019g0229 a0001c0002t0023g0147 a0001c0003t0003g0121 a0001c0003t0003g0127 a0001c0003t0003g0130 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0219 a0001c0003t0004g0241 a0001c0003t0004g0243 a0001c0003t0014g0167 a0001c0003t0017g0165 a0001c0005t0002g0005 a0001c0012t0003g0126 a0002c0001t0001g0149 a0002c0001t0001g0152 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0194 a0002c0001t0001g0199 a0002c0001t0001g0203 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0220 a0002c0001t0001g0224 a0002c0001t0001g0231 a0002c0001t0001g0233 a0002c0001t0001g0236 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0242 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0002g0228 a0002c0001t0002g0235 a0002c0001t0006g0148 a0002c0001t0006g0150 a0002c0001t0006g0169 a0002c0001t0006g0181 a0002c0001t0010g0001 a0002c0001t0011g0176 a0002c0001t0011g0211 a0002c0013t0001g0179 a0004c0006t0014g0244 a0005c0008t0001g0193 a0006c0015t0002g0245	113	320	0.3531	-146	c.-23 others(11): Show c.-2307_-2162del	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2108		chr4	TogoVar
EXOC3L4_chr14_103089725_103115559	103109542	TCCCTCCC others(139): Show TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0052 a0004c0002t0003g0052	1	404	0.0025	-146	c.197 others(17): Show c.1977-486_1977-341del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72401500	TATATATA others(139): Show TATATATATATATATACATATATACATATATATATATATATATATGTGTA TATATATATATATATACATATATATATATATACATATATATATATATATA TATGTGTATATATATATATATACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 HG02257.hp1 others(6): Show HG00323.hp1 HG01981.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG03225.hp2 HG03540.hp1 HG03927.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0025 a0001c0002t0005	a0001c0001t0002g0048 a0001c0001t0002g0062 a0001c0001t0003g0045 others(6): Show a0001c0001t0002g0048 a0001c0001t0002g0062 a0001c0001t0003g0045 a0001c0001t0003g0058 a0001c0001t0007g0038 a0001c0001t0012g0039 a0001c0001t0019g0043 a0001c0001t0025g0059 a0001c0002t0005g0075	9	104	0.0865	-146	c.198 others(21): Show c.1981-21776_1981-21631del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
F11R_chr1_160990211_161026152	160990397	AAAAAAAA others(139): Show AAAAAAAAAAGTTCCATGCCAGGAGAGTCTGGCTCCACCTAGTGGTAGCA TATCTAGTTGCAGAAAAAGTACCTTTTCTTCGTAGCTGTGCCTTTGTACT TACTTTTACTTACCTACTAAATTTCCTGCTCCTTCCTCCCTAAATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	392	0.0026	-146	c.83 others(11): Show c.8328_*8473del	F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding		4813		chr1	TogoVar
FBXO34_chr14_55266421_55358611	55331681	ATATGTGT others(139): Show ATATGTGTATATATATATATATATGTATATATATATGTATATATATATGT ATATATATATGTGTGTATATATATATATATGTATATATATATATATATAC CACCATGGTGTATATATAAATATATATATATATACACCACCGGGGTG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18956.hp1 NA18971.hp2 others(4): Show NA18952.hp2 NA18956.hp1 NA18971.hp2 NA18994.hp2 NA19000.hp2 NA19086.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0029 a0003c0003t0002g0063 a0003c0003t0002g0064 others(4): Show a0003c0003t0002g0029 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0072 a0003c0003t0002g0074	7	334	0.0210	-146	c.-10 others(19): Show c.-10-18696_-10-18551del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXD4L1_chr2_113493665_113506150	113496531	CCCGCCTT others(139): Show CCCGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTTC CCGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTTCC CGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0002 a0000c0011t0002	a0000c0011t0002g0000 a0000c0011t0002g0000	1	326	0.0031	-146	c.-27 others(11): Show c.-2725_-2580del	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding		2133		chr2	TogoVar
FOXD4L1_chr2_113493665_113506150	113496551	ATCAATGT others(139): Show ATCAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCA TCAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCAT CAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0005 a0000 a0005	a0000c0002 a0000c0005 a0000c0009 others(4): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0011 a0000c0018 a0005c0019	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(6): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0011t0002 a0000c0018t0002 a0005c0019t0015	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(6): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0011t0002g0000 a0000c0018t0002g0000 a0005c0019t0015g0000	99	326	0.3037	-146	c.-27 others(11): Show c.-2705_-2560del	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding		2113		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805848	CGCAGGCC others(139): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	314	0.0032	-146	c.16 others(11): Show c.1683_*1828del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1562		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805894	CACCCTCC others(139): Show CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTA GGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	314	0.0032	-146	c.17 others(11): Show c.1729_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1608		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233004	AGAGGAGA others(139): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	183	0.0055	-146	c.107 others(21): Show c.1077+14760_1077+14905del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234010	CAGAGGAG others(139): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	183	0.0055	-146	c.107 others(21): Show c.1077+13754_1077+13899del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132300319	TCACTCCC others(139): Show TCACTCCCATAACTAACCCACTCCCACCACATCTAACCCATCCCTGAGAT GACCAAGCCACTCCTGAGATAACTCACTCCCATAACTCACCCACTCCCAC CACACCTAACGCACCCCTGAGATAACCAAGCCACTGCTGAGATAACC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp2 HG01106.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0003 a0001c0001t0001 a0001c0014t0003	a0001c0001t0001g0042 a0001c0014t0003g0146 a0001c0001t0001g0042 a0001c0014t0003g0146	2	183	0.0109	-146	c.239 others(19): Show c.239-14035_239-13890del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GGT1_chr22_24598193_24633996	24605530	ATATTATA others(139): Show ATATTATATAATGTGTATTATATATTATATAATATTATATAATGTGTATT ATATATATAATATTATATAATGTGTATTATATATATAATATTATATAATG TGTATTATATATATAATATTATATAATGTGTATTATATATTTAATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0280 a0001c0013t0001g0280	1	426	0.0024	-146	c.-42 others(19): Show c.-429+2007_-429+2152del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GPBP1L1_chr1_45622304_45691533	45625363	TTTTTTTG others(139): Show TTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTCAGCCAGGATG GTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCGTGCCAAAGTGC TGAGATTACAGGCGTGAGCCACTGCGCCCAGCCTTATGCCTGGCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0098	1	292	0.0034	-146	c.27 others(11): Show c.2747_*2892del	GPBP1L1	ENSG00000159592.11	transcript	ENST00000355105.8	protein_coding		1940		chr1	TogoVar
GPSM2_chr1_108871985_108939545	108933081	GCTTAAGC others(139): Show GCTTAAGCGATCATCCTCCCTCAACCTTCCAAAGTGCTAGGACTGTAGGC ATGAGCCACTGCACCTGGCCTAAAATTACATTGTTACAGGCACGTAAGTA ACACTTCCTGGATCCAAAAATGTGTATTCTGCATTTCAACAACTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01515.hp2 others(20): Show HG01099.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03453.hp2 HG03540.hp1 NA18948.hp1 NA18965.hp1 NA18968.hp2 NA19001.hp1 NA19085.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0006 a0008c0011 a0002c0002 a0002c0006 a0008c0011	a0002c0002t0006 a0002c0002t0009 a0002c0002t0019 others(4): Show a0002c0002t0006 a0002c0002t0009 a0002c0002t0019 a0002c0002t0025 a0002c0002t0045 a0002c0006t0010 a0008c0011t0006	a0002c0002t0006g0002 a0002c0002t0006g0023 a0002c0002t0006g0028 others(19): Show a0002c0002t0006g0002 a0002c0002t0006g0023 a0002c0002t0006g0028 a0002c0002t0006g0031 a0002c0002t0006g0051 a0002c0002t0006g0052 a0002c0002t0006g0053 a0002c0002t0009g0033 a0002c0002t0009g0036 a0002c0002t0009g0038 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0019g0034 a0002c0002t0019g0035 a0002c0002t0019g0037 a0002c0002t0025g0002 a0002c0002t0045g0019 a0002c0006t0010g0004 a0002c0006t0010g0020 a0002c0006t0010g0021 a0002c0006t0010g0043 a0008c0011t0006g0025	23	260	0.0885	-146	c.34 others(11): Show c.3425_*3570del	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	15/15	3425	INFO_REALIGN_3_PRIME	chr1	TogoVar

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