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 genename

Sampleids

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
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(156): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG01496.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0024 a0001c0001t0026g0024 a0001c0001t0001g0024 a0001c0001t0026g0024	2	319	0.0063	-163	c.142 others(17): Show c.142-8663_142-8501del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024021	TGTGGGCG others(156): Show TGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG00741.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0160 a0001c0001t0001g0161	2	319	0.0063	-163	c.142 others(17): Show c.142-8130_142-7968del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024103	TGTGGGCG others(156): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	319	0.0031	-163	c.142 others(17): Show c.142-8048_142-7886del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024472	TGTGGGCG others(156): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCA TTGTCCCTGCTCTTCCCACTCTCTGTGGGCATCCCAGCCCATTGTCCCTG CTCTTCCCACCCGC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0259 a0001c0001t0007g0259	1	319	0.0031	-163	c.142 others(17): Show c.142-7679_142-7517del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024759	TGTGGGCG others(156): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTG CTCTTCCCACTCTC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	319	0.0031	-163	c.142 others(17): Show c.142-7392_142-7230del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1025497	TGTGGGCG others(156): Show TGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTG CTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04115.hp1 NA18962.hp1 others(1): Show HG02602.hp1 HG04115.hp1 NA18962.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0260 others(1): Show a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0260 a0001c0001t0012g0119	4	319	0.0125	-163	c.142 others(17): Show c.142-6654_142-6492del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1026424	CCCTGCTC others(156): Show CCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCT TCCCATCTGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCG CTGTGGGTGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTG TCCCAGCCCATTGT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	319	0.0031	-163	c.142 others(17): Show c.142-5725_142-5563del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PITPNM3_chr17_6446263_6561555	6519181	CAAAAAAT others(156): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02723.hp2 others(4): Show HG01891.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG02976.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0013 a0001c0001t0022 a0001c0002t0062 others(2): Show a0001c0001t0013 a0001c0001t0022 a0001c0002t0062 a0001c0007t0027 a0001c0007t0051	a0001c0001t0013g0195 a0001c0001t0022g0152 a0001c0001t0022g0153 others(4): Show a0001c0001t0013g0195 a0001c0001t0022g0152 a0001c0001t0022g0153 a0001c0001t0022g0196 a0001c0002t0062g0036 a0001c0007t0027g0034 a0001c0007t0051g0177	7	218	0.0321	-163	c.226 others(17): Show c.226+6012_226+6174del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PKP3_chr11_389209_409908	401717	ACCCCCGA others(156): Show ACCCCCGACCCCGCTCACCCCCGACCCCGCTCACCCCCGCCCCGCTCACC CCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCC CGCTCACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	216	0.0046	-163	c.173 others(19): Show c.1737+1017_1737+1179del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLBD2_chr12_113353587_113396629	113386356	TTTTTTTT others(156): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCAGGCTGGAG TGCAATGGTGCGATCTCAGCTTGCTGCAACCTCTGCTTCCCGGGTTCAAG TGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCC ACCACGCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0164 a0001c0004t0018g0164	1	278	0.0036	-163	c.128 others(17): Show c.1287-565_1287-403del	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806123	CCATCACC others(156): Show CCATCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACC ATCACCACCACCACCATCACCACCACCACCATCACCATCACCATCACCAT CACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCCATC ACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0007 a0001c0001t0007 a0001c0005t0007	a0001c0001t0007g0122 a0001c0005t0007g0010 a0001c0001t0007g0122 a0001c0005t0007g0010	2	406	0.0049	-163	c.265 others(19): Show c.2653-1672_2653-1510del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2147617	TATTGTCC others(156): Show TATTGTCCACTGACCTCTCCATCTATCCATCCATCTATTGTCCACTGACG TCTCCATCTGTCCATCTATCTGTTGTCCACTGACCTGTCCACCCATCTGT CTGTTGTCCACTGACCTCTCCATCTATCCATCCACTGTCCACTGACCTCT CCATCTATCCATCC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	286	0.0035	-163	c.635 others(16): Show c.635-1151_635-989del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR7_chr5_177441814_177461286	177451563	ACCCTCAG others(156): Show ACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTGTGGA GCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTG TGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTG ACTGTGGTGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02145.hp1 others(7): Show HG01109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0087	10	332	0.0301	-163	c.-32 others(19): Show c.-324-2350_-324-2188del	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	CCCCGTGT others(156): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	290	0.0035	-163	c.166 others(17): Show c.1663-522_1663-360del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281035	AGCTATCC others(156): Show AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCA CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0158 a0003c0001t0001g0158	1	280	0.0036	-163	c.484 others(18): Show c.484+9848_484+10010del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401717	ACCCCCGA others(156): Show ACCCCCGACCCCGCTCACCCCCGACCCCGCTCACCCCCGCCCCGCTCACC CCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCC CGCTCACCCCCGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	242	0.0041	-163	c.40 others(11): Show c.4016_*4178del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3998		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070310	CCCCAGTG others(156): Show CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-163	c.224 others(19): Show c.2241+3160_2241+3322del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC35E2B_chr1_1656478_1697795	1687306	ATGGCTCA others(156): Show ATGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGAT TACCCGAGCTCAGGAGTTCTAGACGAGCCTGGGCAATGTGGCGAAACCCT GTCTCTACTAAAAATACAAAAAATTAGTCTCTACTAAAAAAACAAAAAAT TAGGCCGGGCGTGG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0046 a0001c0001t0013g0046	1	348	0.0029	-163	c.-14 others(19): Show c.-148+3507_-148+3669del	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	2/9			chr1	TogoVar
SMAD2_chr18_47803957_47935659	47850375	ATATATAT others(156): Show ATATATATTATATAATATATATTATATATTATGTATAATATATATAATAT ATTATATATATTATGTATAATATATATTATATATTATACATAATATATAT TATATATTATATATTATGTATAATATATGTTATATATATAATATATATTA TGTATAATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02486.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0252 a0001c0002t0253 a0001c0002t0254 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	3	310	0.0097	-163	c.784 others(15): Show c.784+736_784+898del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPIN1_chr9_88383444_88483694	88440054	TGCTTTCC others(156): Show TGCTTTCCACTCTTTTCTGCCTTCTCTGGTTTTAATTGAGCATTTTATAT GATTCCACCTTTTTCCCTTCCTTAGCATATCAAGGATATTTTTTGTTTTT AATTTTTTTTTTAATTTTTAAAAATAGAGACAGAGTTTCACCATGTTACA AAGGCTGGTCTCGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	176	0.0057	-163	c.53- others(15): Show c.53-8723_53-8561del	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
TACR3_chr4_103581031_103724985	103650835	ATCTTATA others(156): Show ATCTTATATATAATAATATATATATCTCATATATAATAATATATATATCT TATATATAATAATATATATATCTCATATATAATAATATATATATCTTATA TATAATAATATATATATCTCATATATAATAATATATATATCTTATATATA ATAATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00741.hp1 others(49): Show HG00099.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA19043.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0033 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0002t0003 a0001c0009t0031 a0002c0003t0007 a0002c0003t0014 a0002c0003t0029	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 others(49): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0002g0152 a0001c0001t0003g0031 a0001c0001t0003g0057 a0001c0001t0003g0118 a0001c0001t0004g0028 a0001c0001t0004g0032 a0001c0001t0004g0079 a0001c0001t0006g0131 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0140 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0151 a0001c0001t0006g0244 a0001c0001t0007g0153 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0246 a0001c0001t0008g0139 a0001c0001t0008g0146 a0001c0001t0008g0148 a0001c0001t0008g0149 a0001c0001t0009g0150 a0001c0001t0010g0130 a0001c0001t0014g0156 a0001c0001t0014g0157 a0001c0001t0014g0158 a0001c0001t0015g0141 a0001c0001t0015g0142 a0001c0001t0017g0155 a0001c0001t0025g0274 a0001c0001t0025g0275 a0001c0001t0033g0117 a0001c0001t0038g0029 a0001c0001t0042g0147 a0001c0001t0044g0249 a0001c0001t0048g0273 a0001c0002t0003g0050 a0001c0009t0031g0119 a0002c0003t0007g0271 a0002c0003t0014g0184 a0002c0003t0029g0027	52	280	0.1857	-163	c.888 others(17): Show c.888+5196_888+5358del	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TARM1_chr19_54064895_54086365	54066499	CCTCAGCC others(156): Show CCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGA TGGTCTCGATCTCTTGACCTTGTGATCCGCCCACCTCGGCCTCCCAGAGT GCTGGGATTATAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01928.hp2 HG01978.hp1 others(10): Show HG00408.hp1 HG01928.hp2 HG01978.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp1 NA18952.hp2 NA18963.hp1 NA18965.hp2 NA18985.hp2 NA18988.hp2 NA19005.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0263 a0001c0001t0001g0290	13	409	0.0318	-163	c.33 others(11): Show c.3341_*3503del	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding		3395		chr19	TogoVar
TMEM255B_chr13_113754226_113821995	113807394	TGTCACAC others(156): Show TGTCACACGTGGGCTTACGGGATGTGGGGGGTGGTCCTCCCCGTCACACG CAGGCTTACGGGATGTGGGGGTGGTCCTCCCCGTCACACGCGGGCTTATG GGATGTGGAGGGTGGTCCTCCCTGTCACACGCAGGCTTACGGGATGTGGG GGGTAGTCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(31): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp1 HG03516.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(22): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0066	a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0173 others(30): Show a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0173 a0001c0002t0008g0099 a0001c0002t0008g0106 a0001c0002t0008g0108 a0001c0002t0008g0109 a0001c0002t0011g0062 a0001c0002t0011g0103 a0001c0002t0011g0105 a0001c0002t0018g0032 a0001c0002t0018g0141 a0001c0002t0019g0002 a0001c0002t0039g0110 a0001c0002t0040g0216 a0001c0002t0041g0185 a0001c0002t0043g0118 a0001c0002t0044g0104 a0001c0002t0045g0126 a0001c0002t0046g0116 a0001c0002t0047g0111 a0001c0002t0049g0117 a0001c0002t0050g0029 a0001c0002t0051g0119 a0001c0002t0052g0219 a0001c0002t0053g0002 a0001c0002t0055g0107 a0001c0002t0056g0063 a0001c0002t0057g0215 a0001c0002t0058g0113 a0001c0002t0059g0022 a0001c0002t0060g0102 a0001c0002t0066g0125	34	260	0.1308	-163	c.813 others(17): Show c.813+2375_813+2537del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133292108	TCCCCCAT others(156): Show TCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCC ATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	284	0.0070	-163	c.121 others(17): Show c.1214+228_1214+390del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VSTM1_chr19_54035825_54068897	54066499	CCTCAGCC others(156): Show CCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGA TGGTCTCGATCTCTTGACCTTGTGATCCGCCCACCTCGGCCTCCCAGAGT GCTGGGATTATAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01928.hp2 HG01978.hp1 others(9): Show HG00408.hp1 HG01928.hp2 HG01978.hp1 HG02083.hp1 HG02155.hp1 NA18952.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18985.hp1 NA19005.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0004t0003	a0001c0001t0001g0343 a0001c0001t0001g0375 a0001c0001t0002g0185 others(9): Show a0001c0001t0001g0343 a0001c0001t0001g0375 a0001c0001t0002g0185 a0001c0003t0001g0002 a0001c0003t0001g0023 a0001c0003t0001g0248 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0278 a0002c0002t0001g0164 a0002c0004t0003g0156 a0002c0004t0003g0157	12	441	0.0272	-163	c.-28 others(11): Show c.-2885_-2723del	VSTM1	ENSG00000189068.11	transcript	ENST00000338372.7	protein_coding		2603		chr19	TogoVar
ZNF16_chr8_144925358_144955880	144946589	GGGTCTGT others(156): Show GGGTCTGTATCCTGCTGTTGGGCTTGTGTCCTGCTGTTGGGCCTGTGTCC TGCTGTTGGGCCTGTGTCCTACTGTGGGCCTGTACCCTACTGTGGGCCAT ACCCTGCTGTGGGCCCGTGTCCTGCTGTGGGGCCCGTACCCTGCTGTGGG CCATACCCTTCTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0097 a0001c0008t0001g0097	1	404	0.0025	-163	c.-9- others(13): Show c.-9-537_-9-375del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF511_chr10_133303914_133318161	133317783	CAGACACA others(156): Show CAGACACAGAGATGGAAAGACCACACACCCCCCCCCCCCCAGACACAGAG ATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACC CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAG ATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-163	c.49 others(11): Show c.4918_*5080del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4623		chr10	TogoVar
ACTR3C_chr7_150242212_150328545	150244067	GTATAGTC others(155): Show GTATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTGAATA TTCAATATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAATATTG AATATTCAATATAGTCTTAGAATATTGAATATTCAATATAGTCTTAGAAT ATTGAATATTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG03453.hp1 others(1): Show HG02280.hp1 HG02630.hp2 HG03453.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0005 a0001c0001 a0002c0002 a0006c0005	a0001c0001t0001 a0002c0002t0001 a0006c0005t0001 a0001c0001t0001 a0002c0002t0001 a0006c0005t0001	a0001c0001t0001g0264 a0001c0001t0001g0275 a0002c0002t0001g0121 others(1): Show a0001c0001t0001g0264 a0001c0001t0001g0275 a0002c0002t0001g0121 a0006c0005t0001g0138	4	294	0.0136	-162	c.33 others(11): Show c.3379_*3540del	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		3144		chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238022	TCTCCCTC others(155): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	106	0.0094	-162	c.136 others(19): Show c.1361+3947_1361+4108del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133136461	TGGGGGGG others(155): Show TGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGT CCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTG GGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCT CTGGGTCCCTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01433.hp2 others(5): Show HG00642.hp1 HG01243.hp1 HG01433.hp2 HG02922.hp1 HG03017.hp2 HG04199.hp2 NA18522.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 others(2): Show a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 a0001c0001t0053 a0001c0016t0060	a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 others(5): Show a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 a0001c0001t0017g0201 a0001c0001t0040g0025 a0001c0001t0045g0206 a0001c0001t0053g0303 a0001c0016t0060g0291	8	368	0.0217	-162	c.69 others(11): Show c.6951_*7112del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4787		chr10	TogoVar
ANOS1_chrX_8523874_8737137	8725581	GATATATA others(155): Show GATATATATATACAGATATATATATACAGATATATATATATACAGATATA TATATACAGATATATATACAGATATATATATATACAGATATATATATACA GATATATATATATACAGATATATATATACAGATATATATATATACAGATA TATATATACAGAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0017 a0002c0002t0007g0017	1	231	0.0043	-162	c.207 others(17): Show c.207+6087_207+6248del	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1841802	AGGAACTG others(155): Show AGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACGGGAACTGGGGCCG CGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGG GCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACCGGAAC TGGGGCCGCGACC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19064.hp1 HG01243.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0112 a0001c0003 a0001c0112	a0001c0003t0008 a0001c0112t0017 a0001c0003t0008 a0001c0112t0017	a0001c0003t0008g0288 a0001c0112t0017g0124 a0001c0003t0008g0288 a0001c0112t0017g0124	2	363	0.0055	-162	c.-47 others(17): Show c.-47-1517_-47-1356del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMT_chrX_1610059_1648081	1638603	ATCCTGAT others(155): Show ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-162	c.910 others(17): Show c.910+2052_910+2213del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP11A_chr13_112685038_112892168	112863103	ACATGCAG others(155): Show ACATGCAGTTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTG CAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTC AGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTA ATTCAGTGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	254	0.0039	-162	c.299 others(17): Show c.2991+536_2991+697del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864564	ATGCAGCT others(155): Show ATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCG GCCCATACAGCTTCCCAGCGGGGTCCATCACCACATGGGCAGTAATTCAG TGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAAT TCAGTGCAGCACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02258.hp2 others(23): Show HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0009 others(10): Show a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0029 a0001c0045 a0004c0015 a0004c0027	a0001c0002t0014 a0001c0002t0015 a0001c0002t0070 others(14): Show a0001c0002t0014 a0001c0002t0015 a0001c0002t0070 a0001c0004t0003 a0001c0004t0042 a0001c0009t0048 a0001c0009t0075 a0001c0014t0003 a0001c0017t0076 a0001c0019t0015 a0001c0020t0068 a0001c0021t0024 a0001c0024t0038 a0001c0029t0051 a0001c0045t0014 a0004c0015t0002 a0004c0027t0074	a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 others(23): Show a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0070g0199 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0149 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0009t0048g0045 a0001c0009t0075g0153 a0001c0014t0003g0178 a0001c0017t0076g0154 a0001c0019t0015g0147 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0024t0038g0043 a0001c0029t0051g0046 a0001c0045t0014g0254 a0004c0015t0002g0052 a0004c0015t0002g0087 a0004c0027t0074g0155	26	254	0.1024	-162	c.299 others(19): Show c.2991+2045_2991+2206del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83032350	GGGTCAGA others(155): Show GGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCGGGAGCTGAAC AACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGGAGCT GAACAACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGG AGCTGAACAACCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0220 a0001c0003t0009g0220	1	266	0.0038	-162	c.297 others(17): Show c.297+2523_297+2684del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393016	TATACATA others(155): Show TATACATACACACATATATATACATATATACGTGTACATATATGTACACA TATATGTATACACACACATATATACATATATACGTGTACATATATGTACA CATATATGTATATATACACACATATGTGTACATATATATGTACACATATA TGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01069.hp1 others(43): Show HG00323.hp2 HG00738.hp1 HG01069.hp1 HG01261.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp2 NA19000.hp2 NA19009.hp2 NA19068.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0002t0002 a0001c0003t0008 a0001c0008t0002	a0001c0001t0002g0047 a0001c0001t0004g0089 a0001c0001t0004g0090 others(43): Show a0001c0001t0002g0047 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0017g0229 a0001c0002t0002g0094 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0003t0008g0122 a0001c0003t0008g0123 a0001c0003t0008g0124 a0001c0008t0002g0130 a0001c0008t0002g0131	46	298	0.1544	-162	c.51+ others(15): Show c.51+7624_51+7785del	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCL11A_chr2_60452194_60558654	60467480	GTGGTGGT others(155): Show GTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGT GATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATG GTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0114 a0001c0001t0045g0114	1	262	0.0038	-162	c.487 others(17): Show c.487+1090_487+1251del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BPHL_chr6_3113711_3158578	3145401	CCGAGTGC others(155): Show CCGAGTGCTGGTTCGGGTGGAGTGCTGGTTCAGGGTGGAGCGCTGGTTCG GGGTGGAGTGCTGGTTTGGGTTTGAATGCTGATTCGGGGTGGAGTGCTGG TTCGGGGTGGAGTGCTGGTTCAGGGTGGAGTGCTGGTTCCGGTTGGAGTG CTGGTGTGGGTTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01975.hp1 others(28): Show HG01081.hp1 HG01099.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp2 NA18946.hp1 NA18952.hp1 NA18965.hp1 NA18980.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0002c0003t0005 a0005c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0002t0003g0009 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0002c0003t0001g0005 a0002c0003t0001g0035 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0005g0035 a0005c0009t0001g0235	31	350	0.0886	-162	c.788 others(17): Show c.788+4893_788+5054del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
C2CD4C_chr19_400445_414147	404578	GACGGGGT others(155): Show GACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGA CGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	322	0.0031	-162	c.23 others(11): Show c.2356_*2517del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		866		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920296	GCCCCAGG others(155): Show GCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTTCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTG GTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTCA TTGGTGGAGTCGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02559.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02559.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0067	5	364	0.0137	-162	c.424 others(17): Show c.424+4845_424+5006del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920411	GTCTGGTC others(155): Show GTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTCATTGGTGGAGTCGTCC CCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGT TGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGA GTTGTCCCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02717.hp1 others(1): Show HG01243.hp2 HG01891.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018	4	364	0.0110	-162	c.424 others(17): Show c.424+4907_424+5068del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921956	GCCCCAGG others(155): Show GCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGG AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATT GGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGT CATTGGTGGAGTT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	364	0.0028	-162	c.424 others(17): Show c.424+6452_424+6613del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922720	AGGTCTGG others(155): Show AGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTG TCCCAGGCTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGACTCAG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	364	0.0028	-162	c.424 others(17): Show c.424+7217_424+7378del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923338	GGCCTGGT others(155): Show GGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAG TTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGG TGGAGTTGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02886.hp1 NA20905.hp2 HG00323.hp1 HG02886.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0256	3	364	0.0082	-162	c.424 others(17): Show c.424+7835_424+7996del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85769001	TAGTATAT others(155): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATAGTATATATACACATATA TACATATATGTATATATACACATATATACATATATAGTATATATACACAT ATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp2 HG00423.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0117 a0001c0001t0018g0035 a0001c0001t0004g0117 a0001c0001t0018g0035	2	146	0.0137	-162	c.89- others(17): Show c.89-33045_89-32884del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85769028	TAGTATAT others(155): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATATAGTATATATACACAT ATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show HG02257.hp2 HG02258.hp2 HG02922.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 a0001c0001t0049	a0001c0001t0002g0017 a0001c0001t0002g0137 a0001c0001t0015g0077 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0137 a0001c0001t0015g0077 a0001c0001t0023g0003 a0001c0001t0049g0033	5	146	0.0343	-162	c.89- others(17): Show c.89-33018_89-32857del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CAMKMT_chr2_44356947_44777592	44588259	AAGTGAGG others(155): Show AAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGAGGGGCT CCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG01243.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0004g0031 others(2): Show a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033	5	198	0.0253	-162	c.377 others(21): Show c.377-116023_377-115862del	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CCKAR_chr4_26476396_26495484	26492419	CTTTCCCT others(155): Show CTTTCCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTT TCTTTCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTT TTCTTTCTTTCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02486.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	454	0.0044	-162	c.-23 others(11): Show c.-2314_-2153del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		1936		chr4	TogoVar
CD300LG_chr17_43842176_43868639	43842364	GCCTCTCT others(155): Show GCCTCTCTCCACGCCTCTCCACGCCTCTCTCCACGCCTCTCCACGCCTCT CTCTACGCCTCTCCACGCCTCTCCACGCCTCTCTCCACGCCTCTCCACGC CTCTCCACGCCTCTCCCCGCCTCTCTCCACGCCTCTCCACGCCTCTCTCT ACGCCTCTCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	-162	c.-48 others(11): Show c.-4852_-4691del	CD300LG	ENSG00000161649.14	transcript	ENST00000317310.5	protein_coding		4811		chr17	TogoVar

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