Joint Open Genome and Omics Platform (JoGo)

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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
SOX11_chr2_5687384_5706385	5705899	AGACCAGG others(128): Show AGACCAGGGTAGAGGAGTTGAGGAGGCCGGGGTGGAGGAATTGGGGAGGC TGGAGTGGAGGAGCAGGGGAGAAAGGGGTGGAGGAAAAGGGGAAGAAGGG GTGGAGGAGGAGGGGAGGCAGGGGTGGAGCTGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0000 a0001c0001t0192g0000	1	434	0.0023	-135	c.11 others(13): Show c.11853_*11987del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4515		chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586903	ATTTTAAA others(128): Show ATTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAAT TATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAATATTTAA TTATTTTAAATTATAAATATTAAAATATTTAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	358	0.0028	-135	c.649 others(17): Show c.649-1264_649-1130del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
STARD13_chr13_33098137_33290755	33177834	AAGGAAGG others(128): Show AAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	302	0.0033	-135	c.170 others(19): Show c.170-10347_170-10213del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STIL_chr1_47245139_47319147	47278881	CTAAATTT others(128): Show CTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAA AATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTT TATAAAACAAAGATTTTTTAAAAAATCATATGTATG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 NA20129.hp1 HG01884.hp1 HG02145.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231	3	392	0.0077	-135	c.221 others(19): Show c.2217+1225_2217+1359del	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	12/16			chr1	TogoVar
STX2_chr12_130784600_130844250	130843186	TTAGCTGG others(128): Show TTAGCTGGGCATGGTGGCATGTGCCTGTAGGTTACTCAGGAGGCTGACGC AGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGAAGTGAGCTGTGATTG TGCCACTGCACTCCAGCCTGGGCAACAGAATGAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0116 a0004c0006t0013g0116	1	380	0.0026	-135	c.-42 others(11): Show c.-4222_-4088del	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		3937		chr12	TogoVar
SV2A_chr1_149898318_149922844	149919988	GCCTCAGC others(128): Show GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTG GCTAACTTTTGTATTGTTAATGGAGACAGGGTTTCACCGTGTTGGCCAGG CTGCTCTCGAACTCCGGACCTCAAGTGATCCACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	364	0.0028	-135	c.-27 others(11): Show c.-2732_-2598del	SV2A	ENSG00000159164.10	transcript	ENST00000369146.8	protein_coding		2145		chr1	TogoVar
SYCE1L_chr16_77194408_77218215	77203724	AGCTGGGA others(128): Show AGCTGGGATTACAGGCGTGCATCAACATGTCCGGCTAATTTTTGTATTTT TAGTAGAGTTGGGGTTTTGCCACGTTGGCCAAGCTGGTCTCGAACTCCTG ACCTCAGATGATCCACCCTCGTCGGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	442	0.0023	-135	c.62- others(15): Show c.62-2698_62-2564del	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
TACC2_chr10_121984163_122259542	122201161	GACGGCCA others(128): Show GACGGCCACCTCACCTGCCCACAGTGGCCACATCTACAGTGAGAGGATGG CCACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACC TCACCTGCCCACAGTGGCTGCGTTCACATGGGGAAA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0259 a0003c0003t0004g0259	1	306	0.0033	-135	c.597 others(19): Show c.5971+6013_5971+6147del	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TARS2_chr1_150482419_150512602	150486178	TGCCCAGC others(128): Show TGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTG GCCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCC TCCCAAGTAGCTGGGATTACAGGCGCCCACCACCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01070.hp2 others(4): Show HG00558.hp1 HG00741.hp1 HG01070.hp2 HG02074.hp2 HG02523.hp1 NA19002.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0107 a0001c0001t0001g0117 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0184	7	400	0.0175	-135	c.-12 others(11): Show c.-1272_-1138del	TARS2	ENSG00000143374.18	transcript	ENST00000369064.8	protein_coding		1240		chr1	TogoVar
TMEM132B_chr12_125181386_125667369	125527185	TCCATCCA others(128): Show TCCATCCACCCATCCACCCTTCCATCCATCCATCCACCCATCCACCCTTC CATCCACCCATCCACCCTTCCATCCACCCGTTTACCCTTCTATCCACCCA TCCACCCTTCCATCCACCCTCCACTCTTCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp1 HG02886.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0023 a0002c0005t0039 a0001c0002t0023 a0002c0005t0039	a0001c0002t0023g0022 a0002c0005t0039g0024 a0001c0002t0023g0022 a0002c0005t0039g0024	2	128	0.0156	-135	c.129 others(19): Show c.1293+7588_1293+7722del	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129392187	AGCTGGGA others(128): Show AGCTGGGATTACAGGCATGTGCCACCACACTCAGTTAATTTTATATTTTT AGTAGAGACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGA CCTCAGGGCGATCCGCCCACCTCAGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	94	0.0106	-135	c.111 others(21): Show c.1116-54505_1116-54371del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM175_chr4_927460_963656	939352	GGGCAGAT others(128): Show GGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGA GAAACCCCATTTCTACTAAAAATACAAAAATTAGCTGAGCGCAATGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03831.hp1 NA20905.hp1 others(1): Show HG02735.hp1 HG03831.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0020 a0002c0003t0003g0048 a0002c0003t0003g0127 a0002c0003t0003g0020 a0002c0003t0003g0048 a0002c0003t0003g0127	4	372	0.0108	-135	c.-32 others(17): Show c.-32+6861_-32+6995del	TMEM175	ENSG00000127419.17	transcript	ENST00000264771.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRAPPC9_chr8_139722725_140462744	140196135	ACAACGAT others(128): Show ACAACGATCCACCATACAGATCACACCTGTGACACTAAAACACACTCAAC GATCCACCATACAGATCACACCTGTGACACTAAAACACACTCAACGATCC ACCATACAGATCACACCTGTGACACTAAAACACACT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0008 a0001c0007t0015 a0001c0005t0008 a0001c0007t0015	a0001c0005t0008g0076 a0001c0007t0015g0018 a0001c0005t0008g0076 a0001c0007t0015g0018	2	98	0.0204	-135	c.255 others(21): Show c.2556+25189_2556+25323del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TSPAN32_chr11_2297013_2323204	2308409	CCCCCCAC others(128): Show CCCCCCACAGTGACCGGCCCCCCGCAGTGACCAGCCCCCCGCAATGACCA GCCCCCAACAGTGACCAGCCCCCCATAGTGACCGGCCCCCCACAGTGACC AGCCCCCCGCAATGACCAGCCCCCAACAGTGACCAG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	412	0.0024	-135	c.280 others(15): Show c.280-321_280-187del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN32_chr11_2297013_2323204	2308426	CCCCCCGC others(128): Show CCCCCCGCAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCA GCCCCCCATAGTGACCGGCCCCCCACAGTGACCAGCCCCCCGCAATGACC AGCCCCCAACAGTGACCAGCCCCCCATAGTGACCGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	412	0.0024	-135	c.280 others(15): Show c.280-304_280-170del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN32_chr11_2297013_2323204	2308494	CCCCCCAC others(128): Show CCCCCCACAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCA GCCCCCCATAGTGACCGGCCCCCCGCAGTGACCAGCCCCCCGCAATGACC AGCCCCCAACAGTGACCAGCCCCCCATAGTGACCGG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03831.hp1 NA19012.hp1 HG02809.hp1 HG03831.hp1 NA19012.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0005c0006t0001 a0001c0001t0001 a0001c0002t0001 a0005c0006t0001	a0001c0001t0001g0071 a0001c0002t0001g0122 a0005c0006t0001g0139 a0001c0001t0001g0071 a0001c0002t0001g0122 a0005c0006t0001g0139	3	412	0.0073	-135	c.280 others(15): Show c.280-236_280-102del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN32_chr11_2297013_2323204	2308515	CCGCAATG others(128): Show CCGCAATGACCAGCCCCCAACAGTGACCAGCCCCCCATAGTGACCGGCCC CCCGCAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCAGCC CCCCATAGTGACCGGCCCCCCACAGTGACTGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19087.hp2 HG02056.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0098 a0001c0002t0001g0116	2	412	0.0049	-135	c.280 others(14): Show c.280-219_280-85del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TXK_chr4_48061393_48139250	48104343	ATAATATA others(128): Show ATAATATATAATATAATATATAATATATATAATATATAATATTATATATA ATATATATAATATATAATATTATATATAATATATATAATATATAATATTA TATATAATATATATAATATATAATATTATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02630.hp2 others(1): Show HG01884.hp2 HG02572.hp1 HG02630.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0018 a0001c0001t0005g0332 a0001c0001t0005g0333	4	362	0.0111	-135	c.501 others(15): Show c.501+423_501+557del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
UBR3_chr2_169822454_170089131	169830420	TTTATGTG others(128): Show TTTATGTGATTTAACTTATTTATTCTTTGACTCTGAGATTATTACTTTTA TTATTCTCATTGTACAGAAGAGGAAAGTAGGGCAGAGTTAAAAACCTTGC TCAAGTTCACACAGGCAGTAAGCTAGGCATGCTGGC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0283 a0002c0004t0004g0283	1	324	0.0031	-135	c.545 others(17): Show c.545+2370_545+2504del	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5A_chr5_176805559_176885898	176871256	CTCACCAA others(128): Show CTCACCAACACCACAGCTTCCCATCTGCCCACACCTGCCCCAACACCACA GCTTCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCA CACTCGCCCCACACCACAGCTTCCCATCTGCCCACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp1 HG03139.hp1 others(4): Show HG01891.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0049 others(4): Show a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0065 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0111	7	268	0.0261	-135	c.886 others(15): Show c.886+723_886+857del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14			chr5	TogoVar
USP34_chr2_61182463_61476087	61274127	CGCCTGTA others(128): Show CGCCTGTAATGCCAGCACTTTGGGAGGTCAAGGTGGGCTGGTCACCTGAG GTCAGGAGTTCAAAACCAGCCTGGCCAAAATGGCGAAATCCGGTCTCCAC TAAAAATACAAAATTTAGCCAGGCATGGTGGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp1 NA18939.hp1 HG00423.hp2 HG02056.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0190 a0001c0001t0003g0201 a0001c0001t0004g0085 a0001c0001t0003g0190 a0001c0001t0003g0201 a0001c0001t0004g0085	3	312	0.0096	-135	c.543 others(19): Show c.5433+3903_5433+4037del	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	41/79			chr2	TogoVar
VIPR2_chr7_159023175_159149867	159090769	CCTGCGAC others(128): Show CCTGCGACCACTGCAATCCCCAGTGACCTCGGCACAGACACGCTGGGACC CACGCACAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGACCTCAG CAGAGACACACTGGGATCACGCACAGGGGCCACCTA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02630.hp1 others(3): Show HG01257.hp1 HG01258.hp1 HG02630.hp1 HG02886.hp2 HG03540.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0016 a0003c0017 a0001c0006 a0001c0016 a0003c0017	a0001c0006t0012 a0001c0016t0002 a0003c0017t0006 a0001c0006t0012 a0001c0016t0002 a0003c0017t0006	a0001c0006t0012g0145 a0001c0006t0012g0147 a0001c0006t0012g0148 others(2): Show a0001c0006t0012g0145 a0001c0006t0012g0147 a0001c0006t0012g0148 a0001c0016t0002g0146 a0003c0017t0006g0003	6	336	0.0179	-135	c.357 others(19): Show c.357+12853_357+12987del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS33B_chr15_90993673_91027594	91014973	CGTGGATC others(128): Show CGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCAGCCAACATGGTG AAACCCCGTCTCTACTAAAAATACAAACATTGGCTGGGCATGGTGGCTCA CACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	374	0.0054	-135	c.240 others(15): Show c.240-675_240-541del	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	3/22			chr15	TogoVar
WASHC2C_chr10_45722266_45797964	45794649	CCTCCCAC others(128): Show CCTCCCACCTTAGCCTCCTGAATGGCTGGGACTACAGGTGTGTGCCATCA TGCCCAGCTAATTTTTAAAAAAAAATTTTTGTAGAGACAAGGGTCTGTTG CCCAGGCTGGTCTCAACCTTCTTACCTCAAGTGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG03041.hp1 HG02257.hp1 HG02723.hp2 HG03041.hp1	a0017 a0032 a0033 a0017 a0032 a0033	a0017c0027 a0032c0037 a0033c0036 a0017c0027 a0032c0037 a0033c0036	a0017c0027t0001 a0032c0037t0004 a0033c0036t0001 a0017c0027t0001 a0032c0037t0004 a0033c0036t0001	a0017c0027t0001g0305 a0032c0037t0004g0046 a0033c0036t0001g0284 a0017c0027t0001g0305 a0032c0037t0004g0046 a0033c0036t0001g0284	3	380	0.0079	-135	c.22 others(11): Show c.2250_*2384del	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding		1686		chr10	TogoVar
WDR81_chr17_1719704_1743585	1738865	GGCCTGAT others(128): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01496.hp1 others(2): Show HG00280.hp2 HG01106.hp2 HG01496.hp1 HG03834.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	5	431	0.0116	-135	c.11 others(11): Show c.1181_*1315del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		281		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740393	GGCCTGAT others(128): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01981.hp1 HG01167.hp2 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0059 a0001c0002 a0001c0059	a0001c0002t0001 a0001c0059t0008 a0001c0002t0001 a0001c0059t0008	a0001c0002t0001g0001 a0001c0059t0008g0095 a0001c0002t0001g0001 a0001c0059t0008g0095	2	431	0.0046	-135	c.27 others(11): Show c.2709_*2843del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1809		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740570	AGGAGCCT others(128): Show AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	431	0.0023	-135	c.28 others(11): Show c.2886_*3020del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1986		chr17	TogoVar
ZFPM2_chr8_105313438_105809539	105380613	ATATTATA others(128): Show ATATTATATATAACATATATATTATATATATATTATATATATATATTATA TATAACATATATATTATATATATATTATATATAACATATATAATATATAT ATATATTATATATAACATATATATTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp2 others(10): Show HG02055.hp2 HG02145.hp2 HG02559.hp2 HG02717.hp2 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0003t0002 a0002c0003t0006 a0003c0004t0011 a0003c0004t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0003g0018 a0002c0002t0001g0047 a0002c0003t0002g0043 a0002c0003t0006g0087 a0003c0004t0011g0090 a0003c0004t0012g0089	13	92	0.1413	-135	c.41- others(17): Show c.41-38529_41-38395del	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZKSCAN3_chr6_28344947_28374172	28349044	GTATATAC others(128): Show GTATATACATGTCTCATATACATAGGTGTATATACATGTCTCATATACAT AGGTGTATATACATGTCTCATATACATAGGTGTATATATATGTCTCATAT ATAGGTGTATATATATGTCTCATATATATAGGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0115 a0002c0002t0007g0115	1	414	0.0024	-135	c.-10 others(10): Show c.-1085_-951del	ZKSCAN3	ENSG00000189298.14	transcript	ENST00000252211.7	protein_coding		902		chr6	TogoVar
ZNF407_chr18_74592870_75070671	75012257	ATACACAT others(128): Show ATACACATAGTGTATGTACACATAGTGTATGTACACATAGTGTATGTACA CATAGTGTATGTACACATAGTGTATGTACACATAGTGTATGTACACATAG TGTATGTACACATAGTGTATGTACACATAGTGTATG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0092 a0003c0006t0004g0092	1	92	0.0109	-135	c.542 others(21): Show c.5429-50879_5429-50745del	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF511_chr10_133303914_133318161	133317811	CCCCCCCC others(128): Show CCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGAC ACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGAC CACACCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02273.hp1 HG02273.hp2 HG00733.hp2 HG02273.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	282	0.0106	-135	c.49 others(11): Show c.4946_*5080del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4651		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317914	ACCCCCCC others(128): Show ACCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAG AGATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCCCCAGACACAGAGATGGAAAGACCACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00621.hp1 others(78): Show HG00099.hp1 HG00323.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19004.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0001c0001t0001 a0001c0002t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0002t0001g0002 a0004c0005t0001g0001	81	282	0.2872	-135	c.50 others(11): Show c.5049_*5183del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4754		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63965611	CACCACTG others(128): Show CACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACC ACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTC CTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp2 others(3): Show HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02615.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0040 a0001c0001t0001g0071 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0071 a0001c0001t0001g0122 a0001c0001t0007g0039	6	356	0.0169	-135	c.103 others(17): Show c.1034+395_1034+529del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393850	TCAGGTGG others(128): Show TCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0029 a0001c0016t0029	a0001c0016t0029g0129 a0001c0016t0029g0129	1	346	0.0029	-135	c.181 others(21): Show c.1811-13682_1811-13548del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393863	GGGCAGGT others(128): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0101 a0002c0054t0101	a0002c0054t0101g0100 a0002c0054t0101g0100	1	346	0.0029	-135	c.181 others(21): Show c.1811-13695_1811-13561del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393983	AGGCAGGT others(128): Show AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0063 a0010c0047t0063	a0010c0047t0063g0343 a0010c0047t0063g0343	1	346	0.0029	-135	c.181 others(21): Show c.1811-13815_1811-13681del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF611_chr19_52697813_52740044	52732424	TGAATAAC others(128): Show TGAATAACTCACAGTATTGAGTTATTCAGAATAACTCACAGTATTGAGTT ATTCAGAATAACTCACAGTATTGAGTTATTCAGAATAACTCACAGTATTG AGTTATTCAGAATAACTCACAGTATTGAGTTATTCA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0212 a0001c0001t0024g0212	1	408	0.0025	-135	c.-22 others(19): Show c.-222+2442_-221-2420del	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZNF701_chr19_52565287_52592174	52580858	TCATGCCT others(128): Show TCATGCCTGTAATCCCAGGACTTCGGGAGGCTGAGACATGTGGATCACCT GAGGTCAGGTGTTTGAGACAAACCTGGCCAATATGGTGAAACCCCATCTC TACTAAAAATATAAAAATTAGCCGGGCATGATGGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(131): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0010 a0011 a0012	a0002c0007 a0003c0002 a0003c0013 others(5): Show a0002c0007 a0003c0002 a0003c0013 a0003c0019 a0005c0006 a0010c0020 a0011c0017 a0012c0016	a0002c0007t0041 a0002c0007t0042 a0002c0007t0092 others(52): Show a0002c0007t0041 a0002c0007t0042 a0002c0007t0092 a0002c0007t0093 a0002c0007t0094 a0002c0007t0095 a0002c0007t0096 a0002c0007t0097 a0003c0002t0002 a0003c0002t0005 a0003c0002t0006 a0003c0002t0015 a0003c0002t0016 a0003c0002t0017 a0003c0002t0024 a0003c0002t0033 a0003c0002t0043 a0003c0002t0044 a0003c0002t0045 a0003c0002t0046 a0003c0002t0047 a0003c0002t0048 a0003c0002t0049 a0003c0002t0050 a0003c0002t0070 a0003c0002t0099 a0003c0002t0100 a0003c0002t0101 a0003c0002t0103 a0003c0002t0104 a0003c0002t0107 a0003c0002t0108 a0003c0002t0111 a0003c0002t0112 a0003c0002t0113 a0003c0002t0114 a0003c0002t0115 a0003c0002t0116 a0003c0002t0117 a0003c0002t0178 a0003c0002t0184 a0003c0013t0002 a0003c0019t0106 a0005c0006t0005 a0005c0006t0006 a0005c0006t0015 a0005c0006t0016 a0005c0006t0024 a0005c0006t0098 a0005c0006t0102 a0005c0006t0105 a0005c0006t0177 a0010c0020t0002 a0011c0017t0109 a0012c0016t0196	a0002c0007t0041g0018 a0002c0007t0041g0235 a0002c0007t0042g0018 others(97): Show a0002c0007t0041g0018 a0002c0007t0041g0235 a0002c0007t0042g0018 a0002c0007t0092g0231 a0002c0007t0093g0234 a0002c0007t0094g0018 a0002c0007t0095g0099 a0002c0007t0096g0232 a0002c0007t0097g0233 a0003c0002t0002g0001 a0003c0002t0002g0012 a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0002t0002g0026 a0003c0002t0002g0051 a0003c0002t0002g0053 a0003c0002t0002g0055 a0003c0002t0002g0066 a0003c0002t0002g0088 a0003c0002t0002g0089 a0003c0002t0002g0167 a0003c0002t0002g0188 a0003c0002t0002g0191 a0003c0002t0002g0221 a0003c0002t0002g0222 a0003c0002t0002g0226 a0003c0002t0002g0230 a0003c0002t0002g0240 a0003c0002t0002g0244 a0003c0002t0002g0245 a0003c0002t0005g0001 a0003c0002t0005g0025 a0003c0002t0005g0045 a0003c0002t0005g0127 a0003c0002t0005g0129 a0003c0002t0005g0161 a0003c0002t0005g0162 a0003c0002t0006g0013 a0003c0002t0006g0024 a0003c0002t0006g0094 a0003c0002t0006g0100 a0003c0002t0006g0207 a0003c0002t0015g0101 a0003c0002t0016g0097 a0003c0002t0017g0001 a0003c0002t0017g0016 a0003c0002t0017g0035 a0003c0002t0024g0024 a0003c0002t0033g0058 a0003c0002t0033g0258 a0003c0002t0043g0128 a0003c0002t0043g0146 a0003c0002t0044g0102 a0003c0002t0044g0166 a0003c0002t0045g0001 a0003c0002t0045g0145 a0003c0002t0046g0035 a0003c0002t0046g0248 a0003c0002t0047g0012 a0003c0002t0048g0001 a0003c0002t0049g0199 a0003c0002t0049g0225 a0003c0002t0050g0016 a0003c0002t0050g0024 a0003c0002t0070g0156 a0003c0002t0099g0205 a0003c0002t0100g0045 a0003c0002t0101g0158 a0003c0002t0103g0001 a0003c0002t0104g0001 a0003c0002t0107g0228 a0003c0002t0108g0163 a0003c0002t0111g0026 a0003c0002t0112g0174 a0003c0002t0113g0053 a0003c0002t0114g0169 a0003c0002t0115g0229 a0003c0002t0116g0017 a0003c0002t0117g0026 a0003c0002t0178g0001 a0003c0002t0184g0270 a0003c0013t0002g0012 a0003c0013t0002g0093 a0003c0019t0106g0206 a0005c0006t0005g0038 a0005c0006t0005g0081 a0005c0006t0006g0071 a0005c0006t0015g0039 a0005c0006t0015g0079 a0005c0006t0016g0042 a0005c0006t0016g0043 a0005c0006t0024g0038 a0005c0006t0024g0124 a0005c0006t0098g0042 a0005c0006t0102g0106 a0005c0006t0105g0083 a0005c0006t0177g0111 a0010c0020t0002g0223 a0011c0017t0109g0201 a0012c0016t0196g0060	134	456	0.2939	-135	c.143 others(17): Show c.143-1326_143-1192del	ZNF701	ENSG00000167562.14	transcript	ENST00000391785.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF713_chr7_55882456_55947225	55887713	AGGCGGAG others(128): Show AGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCG GGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGG GCGGCGGGCGGCGGGCGGCGGGCGGCGGGCGGCGGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00609.hp1 others(52): Show HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02523.hp2 HG02602.hp2 HG02723.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18998.hp2 NA19005.hp1 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(10): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0029 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0070 a0001c0002t0006	a0001c0001t0002g0005 a0001c0001t0002g0192 a0001c0001t0002g0195 others(52): Show a0001c0001t0002g0005 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0013g0190 a0001c0001t0013g0212 a0001c0001t0013g0225 a0001c0001t0014g0005 a0001c0001t0014g0197 a0001c0001t0014g0207 a0001c0001t0014g0208 a0001c0001t0014g0217 a0001c0001t0014g0223 a0001c0001t0014g0240 a0001c0001t0022g0191 a0001c0001t0022g0219 a0001c0001t0022g0236 a0001c0001t0029g0193 a0001c0001t0029g0202 a0001c0001t0044g0196 a0001c0001t0049g0230 a0001c0001t0050g0229 a0001c0001t0051g0235 a0001c0001t0055g0194 a0001c0001t0056g0231 a0001c0001t0070g0206 a0001c0002t0006g0161	55	410	0.1342	-135	c.-58 others(16): Show c.-583+39_-583+173del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF723_chr19_22827291_22863667	22862490	TATGTAAT others(128): Show TATGTAATATAATATATATATTATATATGTAATATAATATATAATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	2	364	0.0055	-135	c.40 others(11): Show c.4058_*4192del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3824		chr19	TogoVar
ZZEF1_chr17_3999445_4148030	4090052	CAACTATT others(128): Show CAACTATTCTCTCAGCCTGAGACGCCCTCCTCCACACACTGCAGCCTGGC TAAGGATGCTGTGTTCTCAACTATTCTGTCAGCCTGAGACGCCCTCCTCC ACACACTGTAGCCTGGCTAAGGATGCTGTGTTCTCA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0161 a0002c0002t0021g0161	1	296	0.0034	-135	c.202 others(17): Show c.2025+532_2025+666del	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	12/54			chr17	TogoVar
A4GALT_chr22_42687121_42725870	42707992	GCCTGTAA others(127): Show GCCTGTAATCCCAGCACTTTGGGAGGCTGAGCCAGGCAGATCACCTGAGG TTGGGAGTTCAAGACCAGCCTGACTAACATGGAGAAACCCCATCTCTACT AAAAATACAAAATTAGCCGGGTGTGGTGGCACCTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0282 a0001c0002t0021g0282	1	406	0.0025	-134	c.-18 others(21): Show c.-187-12495_-187-12362del	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
ACAP3_chr1_1287391_1312930	1288567	TCCCCCGT others(127): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-134	c.48 others(11): Show c.4863_*4996del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3823		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289033	TCCCCCGA others(127): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	295	0.0034	-134	c.43 others(11): Show c.4397_*4530del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3357		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297600	CGTGTGTG others(127): Show CGTGTGTGTGTGCACAGGCACGGGGCAGGGGCCATCCCCAGTGGCACGTG TGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGCA CGGGCACGGGGCAGGGGCCATCCCCGGTGGCACGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG04184.hp2 HG01516.hp2 HG01517.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0101	3	295	0.0102	-134	c.112 others(16): Show c.1128+88_1128+221del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ACSS2_chr20_34871612_34932959	34889369	TCCTCGGC others(127): Show TCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGTGCCACTGCGCCTG GCCAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCATGTTGGCCAGG CTGGTCTCAAACTCCTGACCTTGTGACCCGCCCGC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	312	0.0032	-134	c.374 others(17): Show c.374+6382_374+6515del	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADAMTSL2_chr9_133529704_133580519	133562767	CGCACCGC others(127): Show CGCACCGCTGTGGGCGGCGTGGTGGGCACCGGCTTGGCCAGGCTCGCACC GCTGTGGGCGGCGTGGTGGGCACCCGGCTTGGCCAGGCTCGCACCGCTGT GGGAGGCGTGGTGGGCACCCGGCTTGGCCAGGCTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0060 a0001c0007t0001g0060	1	152	0.0066	-134	c.174 others(19): Show c.1747+1546_1747+1679del	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
AGAP1_chr2_235489043_236136793	235694158	ACATGGTG others(127): Show ACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTTGGCCAGGCAT GGTGGCTCACACTTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGA TCATGGGGTCAGGAGATCGAGACCATCCTGGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03098.hp1 others(1): Show HG02615.hp1 HG02647.hp2 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0014 a0001c0002t0038 a0001c0003t0022 others(1): Show a0001c0002t0014 a0001c0002t0038 a0001c0003t0022 a0001c0005t0004	a0001c0002t0014g0076 a0001c0002t0038g0086 a0001c0003t0022g0055 others(1): Show a0001c0002t0014g0076 a0001c0002t0038g0086 a0001c0003t0022g0055 a0001c0005t0004g0088	4	98	0.0408	-134	c.164 others(19): Show c.164-15005_164-14872del	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246868332	GCTGGTCT others(127): Show GCTGGTCTTGAACTCCTGACCTCATGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAATTTTTGTATT TTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01433.hp1 HG02055.hp2 others(6): Show HG00733.hp2 HG01433.hp1 HG02055.hp2 HG02451.hp2 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03471.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0224 a0003c0003t0001g0280 a0003c0003t0001g0281 others(6): Show a0003c0003t0001g0224 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288	9	376	0.0239	-134	c.308 others(17): Show c.3089-655_3089-522del	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	24/35			chr1	TogoVar
AK6_chr5_69345984_69374520	69374226	TTTATTTT others(127): Show TTTATTTTCCAAGGCTTAGATTTTTCTCAATAGTTATTCTAAAGTTGTAT GATTAGTTGTCTTAGATTTAATTTAATCCCAACATAGAATTGATCTTTTT AAAAATTTTTGTACTAAATGTAATACTCCTCTCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	421	0.0024	-134	c.-48 others(11): Show c.-4870_-4737del	AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding		4707		chr5	TogoVar

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