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
GOLGA6L1_chr15_23122066_23141822	23124298	GATAGGCA others(977): Show GATAGGCAGCGAGTTGGAAAGTGGATGCAATAGGCAGGGTGGCGGCTGCT CCCCACAGCCAGGAGTCCGGCCCAGCACCCACCTGAGTCCGCCTCAGTCC TGCTCAATTGGGTTATCCGTGCTCTTGGCCCTCTGATCCCACCCACAGAG GGAGGTCTTTGGGGCGACCAGGTGAGCTGGCCCTTGTGGGAGGATGTAAC TGACTCCTGAGCCTGGCGAGCCAGGCAGCCCCTCGCCAACGTCCCCACCC CTACCTCTCCAGCCCCCCCGCATTCCCTGATCCTCCCATCCGCTCCCCTG ACCCAGCAGTTGCCTCTGCTCACTCTCTTTTCCTGCTCCCAGGCTCGCCT GGTCATGTGTCCTTCACTCTCCTCTGAGTCTCCCTCTTTCCAAGCCGCCT CCACTCTACTTGACACACTCTCCCTTAAGACACCAGAGTACACAAGCGCA AGTCCCTGCACCTCACCTTTACTCCCAGACATGGGAGGGAGATGACATGA AGACCCAAACGCCACTTAGCAGGAGATCTGGGGTATGCAGAGGGGCAGAA CGGAGGCTGTGGAAGCTCCAGGGGCTCCCTGCAGGAGGCCACATGTAAGC TGGCTATTGAATGTGGCTCTGAGCTGAGACCTCTCCTTGAAGCTCCAGAC CAGGAGCCAGCTGCTAGCTGGACCCCTCCATTTGGTGCCTCAGAGAAACT TTGCACTCTCTAGGTCTAACTTTGAACCCAGAAAATTCCCCCATGTCGGC CCTGTCTCTTCACAGGGAAAGCACCACCTCAGACCCAGTTCTGCACCAAA CCCACATTTGAGTCACGAGGCTCCTGCCCTGCACTGTGAGCACTCTGGAT AAGCCAGTGCTGAGGGGGAAAGAGCTCTGAATGCCAAGCCAAAACATGAG CTTCAACTCCACCTCCAGCTCTGAGAGCTGTGGGTAGGGAAGGGCCCTCG TCCAGTTTGCTGTAGAAAGATCAGTCTGCCACTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG01261.hp2 HG02257.hp1	a0002 a0029 a0002 a0029	a0002c0002 a0029c0036 a0002c0002 a0029c0036	a0002c0002t0001 a0029c0036t0001 a0002c0002t0001 a0029c0036t0001	a0002c0002t0001g0088 a0029c0036t0001g0065 a0002c0002t0001g0088 a0029c0036t0001g0065	2	204	0.0098	-984	c.35 others(11): Show c.3508_*4491del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding		2767		chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23321763	GATAGGCA others(977): Show GATAGGCAGCGAGTTGGAAAGTGGATGCAATAGGCAGGGTGGCGGCTGCT CCCCACAGCCAGGAGTCCGGCCCAGCACCCACCTGAGTCCGCCTCAGTCC TGCTCAATTGGGTTATCCGTGCTCTTGGCCCTCTGGTCCCACCCACAGAG GGAGGTCTTTGGGGCGACCAGGTGAGCTGGCCCTTGTGGGAGGATGTAAC TGACTCCTGAGCCTGGCGAGCCAGGCAGCCCCTCGCCAACGTCCCCACCC CTACCTCTCCAGCCCCCCCGCATTCCCTGATCCTCCCATCCGCTCCCCTG ACCCAGCAGTTGCCTCTGCTCACTCTCTTTTCCTGCTCCCAGGCTCGCCT GGTCATGTGTCCTTCACTCTCCTCTGAGTCTCCCTCTTTCCAAGCCGCCT CCACTCTACTTGACACAGTCTCCCTTAAGACACCAGAGTACACAAGCGCA AGTCCCTGCACCTCACCTTTACTCCCAGACATGGGAGGGAGATGACATGA AGACCCAAACGCCACTTAGCAGGAGATCTGGGGTATGCAGAGGGGCAGAA CGGAGGCTGTGGAAGCTCCAGGGGCTCCCTTCAGGAGGCCACATGTAAGC TGGCTATTGAATGTGGCTCTGAGCTGAGACCTCTCCTTGAAGCTCCAGAC CAGGAGCCAGCTGATAGCTGGACCCCTCCATTTGGTGCCTCAGAGAAACT TTGCACTCTCTAGGTCTAACTTTGAACCCAGAAAATTCCCCCATGTCGGC CCTGTCTCTTCACAGGGAAAGCACCACCTCAGACCCAGTTCTGCACCAAA CCCACATTTGAGTCACGAGGCTCCTGCCCTGCACTGTGAGCACTCTGGAT AAGCCAGTGCTGAGGGGGAAAGAGCTCTGAATGCCAAGCCAAAACATGAG CTTCAACTCCACCTCCAGCTCTGAGAGCTGTGGGTAGGGAAGGGCCCTAG TCCAGTTTGCTGTAGAAAGATCAGTCTGCCACTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01109.hp2 others(30): Show HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG02145.hp1 HG02300.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02965.hp1 HG03688.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18957.hp2 NA18966.hp2 NA18974.hp2 NA18990.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA20805.hp2	a0001 a0006 a0007 others(7): Show a0001 a0006 a0007 a0009 a0012 a0015 a0023 a0028 a0035 a0042	a0001c0001 a0006c0007 a0007c0009 others(9): Show a0001c0001 a0006c0007 a0007c0009 a0007c0039 a0009c0011 a0012c0013 a0012c0027 a0015c0014 a0023c0028 a0028c0023 a0035c0051 a0042c0050	a0001c0001t0001 a0001c0001t0004 a0006c0007t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0006c0007t0001 a0007c0009t0002 a0007c0039t0002 a0009c0011t0002 a0012c0013t0002 a0012c0027t0002 a0015c0014t0001 a0023c0028t0002 a0028c0023t0002 a0035c0051t0003 a0042c0050t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0102 a0006c0007t0001g0096 a0007c0009t0002g0040 a0007c0039t0002g0058 a0009c0011t0002g0023 a0009c0011t0002g0118 a0012c0013t0002g0033 a0012c0013t0002g0035 a0012c0027t0002g0034 a0015c0014t0001g0056 a0023c0028t0002g0041 a0028c0023t0002g0027 a0035c0051t0003g0092 a0042c0050t0002g0069	33	182	0.1813	-984	c.35 others(11): Show c.3508_*4491del	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding		2771		chr15	TogoVar
NKD2_chr5_1003802_1043943	1024675	GCTGTGGG others(977): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCC TGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGG CGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGC CCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTC TCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGC TCTTCCCACTCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0076 a0004c0007t0006g0076	1	290	0.0034	-984	c.142 others(17): Show c.142-7469_142-6486del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGTA_chr19_2749715_2788273	2772787	AGGGACAC others(977): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA AATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCAGCCAC ACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTG GGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCG GCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGG CAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACAC CGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAG AGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTG ACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCA CACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGG GACACCGAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAG GGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGT GGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGC GGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACG GCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACA CCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02723.hp2 others(4): Show HG02109.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0012 a0001c0003t0013 a0001c0003t0001 a0001c0003t0012 a0001c0003t0013	a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 others(4): Show a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0012g0313 a0001c0003t0012g0314 a0001c0003t0013g0309 a0001c0003t0013g0315	7	393	0.0178	-984	c.-23 others(17): Show c.-23-4680_-23-3697del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SMYD3_chr1_245744347_246512279	245975609	GGCCCAGG others(977): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	136	0.0074	-984	c.532 others(19): Show c.532-46656_532-45673del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1261346	TACCATCA others(976): Show TACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCGCAA CCTACTCATCTGACAAAGGGCTAATACCCAGAATCTACAATGAACTCAAA CAAATTTACAAGAAAAAAACAACCCCATAAAAAAGTGGGCAAAGGACATG AACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAA AAAATGCTCATTATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAA TGAGATACCATCTCACACCAGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTCAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATTCCATTACTGGGTAT ATACCCAAAGGACTATAAATCTTGCTGCTATAAAGACACATGCACACGTA TGTTTATTGTGGCATTATTCACAATAGCAAAGACTTGGAACCAAGCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATCGCAAGAACAA ACAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCCCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACGAGTTAGTGGGTGCAGTACACCAGCATGGCACATGTATGCATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAT AATAATAATAATAATAATAATAATAAAAGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02257.hp1 others(5): Show HG01081.hp1 HG01884.hp2 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02970.hp1 HG03041.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0006c0009 a0011c0011	a0001c0001t0001 a0001c0001t0012 a0001c0001t0023 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0023 a0001c0001t0052 a0001c0003t0001 a0002c0002t0046 a0006c0009t0024 a0011c0011t0034	a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0001t0023g0023 others(5): Show a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0001t0023g0023 a0001c0001t0052g0062 a0001c0003t0001g0052 a0002c0002t0046g0056 a0006c0009t0024g0016 a0011c0011t0034g0076	8	106	0.0755	-983	c.119 others(19): Show c.1192+8626_1192+9608del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9			chr10	TogoVar
CLVS1_chr8_61282970_61506629	61347346	GATGGTGG others(976): Show GATGGTGGAAACGAGACCTGACACATTGAAAGCTGTCACTGCACAATCTC ACTTACCTGTGAATTCTAAGAAATTGTACTCAAAGGAGCAGAGAGTAGAG TGATGGTTACCAGGGGTTGGCATGTGGGGGGCTGGGGATATTAATATATG TTGGTCAAAGGATATAGAATTTCAGCTAGATAAAAGGGATAAATTCAAGA TTATCTGTTATACAACATGTTGTACATGTTTGTTAGATGTTTATACATGT TTATTTTATTAGCTCAATTTGGCCATTCCATTATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATCCTGAAGTATAC ATTGTGGAATAGCCAAATTGAGCTAATTAACATGGGACTTGGTAGTGCAA GTATTTCTTTGACATACTGATTTCATATCCTTTGGCTATATACTCAGAGG TGGGATTGCTGAATCATATGATAGTTCTATTTTTAATTTTTTAAGGACCC TACCTACTGTTTTCCATAATGGCTGTACCAATTTACATTCCCACCAGCAA TGTACAAGGGTTCCCTTTTCTCCATATTCTTTCCATTAACATATGCATTG CCTCACCTACTTGTCTTTTTGTGATTAGAACACAAAATCGACTCTCAGCG ATTTTCAATGTACAATACATTGTTATTAACTATAGTCAGCATGTTGTATA ATAGACTCCTGACTTTATTATTCCTATGAAACTGAAAATTTGAATCCTTT AACCAACATCTCCCCAAACGCAACCATTGTCCCCAAATCCCTGGTTTCCA CTATATTACTCTCTGCTTCCATGAGTTTGGCTTTTTTATGTTCTACATAT ATGTGATATCATGCAATATTTGTCTTTCTGTGTCTGCTTATTTAACTTAG CAAAATGTTCTCAATCATAGGTGGGAATTGAACAATGAGAACACTTGGAC ACAGGAAGGGGAACATCACACACTGGGGCCTGTC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	182	0.0055	-983	c.456 others(19): Show c.456-29254_456-28272del	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393250	GAAGCCGG others(976): Show GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0104 a0001c0002t0104	a0001c0002t0104g0194 a0001c0002t0104g0194	1	311	0.0032	-983	c.181 others(21): Show c.1811-13930_1811-12948del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82974864	GGGACAGA others(975): Show GGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGG AACCAGGGCCCCAGGACAGAGCCGGACTCCATCCTCCCAGGGACCGGAGG CCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCA GGGGCCGGAGGCCACTTATGGGGAACCAGGGCCCCAGGACAGAGCCCGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACG AGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCAC TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGG CCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGA GCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGC CCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATG GGGAACGAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAG AGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTC CCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGG ACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGG GACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGT CAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG GCCGGAGGCCACTTATGGGGAAACAGGGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00673.hp2 others(58): Show HG00423.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp2 HG01981.hp1 HG02027.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02572.hp1 HG02683.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0002c0005 a0002c0015 a0002c0027 a0003c0024	a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 others(24): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0006 a0001c0006t0023 a0001c0006t0033 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0012t0001 a0001c0012t0002 a0001c0013t0012 a0001c0014t0018 a0002c0005t0003 a0002c0005t0007 a0002c0015t0003 a0002c0027t0003 a0003c0024t0010	a0001c0001t0010g0184 a0001c0001t0011g0068 a0001c0001t0022g0243 others(54): Show a0001c0001t0010g0184 a0001c0001t0011g0068 a0001c0001t0022g0243 a0001c0002t0002g0104 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0006g0039 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0004g0244 a0001c0007t0004g0245 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0228 a0001c0007t0005g0232 a0001c0007t0005g0236 a0001c0007t0005g0242 a0001c0007t0005g0253 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0018g0050 a0002c0005t0003g0057 a0002c0005t0007g0006 a0002c0015t0003g0024 a0002c0015t0003g0045 a0002c0027t0003g0114 a0003c0024t0010g0152	61	266	0.2293	-982	c.460 others(18): Show c.460-10100_460-9119del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
FOXD4_chr9_111231_123417	113554	CTGCCCAA others(975): Show CTGCCCAACTCCGCCGCCTCGGGAAGGCGGCTTCGGGCCCGCAGGGAGCC CCGGGGAGGGTTCCCGGTTCCGCCGGCAGCGGCGTCGAGGGGTGCCTGGG CTCCTGGGGACCGCGAGAGGAAAAAGAACGGAAATCGCACCGGGGAGGAA GGACGCGCAGAACGCCCCCGTGAAGCGGGGTGCTCCGGTCAGGCGTGCGC GGGAGCGCGGTCCGGGGGAGTCCGGCGGCGCCGTCGCGCGCACTCGGCAG AGGCTTCGCGGGAGAACGCGCAGCCCGGGGCGTGGGGCGGGGAACTGCCC GCGCGAGGCTTTCGGCGCGTCTGGGTCTCGGCGAGAGCAAAGCGCGTCCT GGCACCGGGGGCGGCGGCGCAGAGGCCGGGAGGAAGAAATCCGGGCCCTG GCCCAGGTCGGGCTTCCACCCCTGCGACCCGCGAGAGGCCCAGGCGGGAA AGGCGGCGAGTGGCGTCAGCGGTTCCGAAAGCAAACCTGGCCCGGTGCTA CTGCCCGAGGGTCGCCGGGCGCGTTTCCTAATTCCCCCGAGTCTGGAAAA CGGAGACTTCCGTAGCGTCTTCTTCAGTGCGTGCTGCGAGTGCTGAAGGA GGACCCGGTGCCTGGACGACCCGGAGCAGGGGAAGCACTCGGCCGACGCT GTCGCTGTCATCGGCGTCATTGGCGGGCAGGACAGTGGGGCGGGTAAGGG GCCTCCCCGCGCCTCCCGGCCCTTCGCGCTCGGCGCCAGCTCTTTGGCTC CCTTCCCTGCGCAGCTCTAGGCTTAGCTCTCAGCCATTTCTCAAGAAGAC GATCCCGAGGGTCGAAGGCCGCCCTTGACCCTTGACCACGGACTCTCCGT GTAACTCGGAAGAGCCGTGATTTTAAAACCCGGCCTCGGGGTTACAGAAG CCCGAGATCTGGGAGGCGTCCGGGACCTCCCTCCCAGAACCGCAGGGACC CGGCCTGGGATCCAGGGTGTGGCCTCTCGCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18906.hp1 NA19240.hp2 HG02976.hp2 NA18906.hp1 NA19240.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0000 a0003c0017t0003g0000	3	450	0.0067	-982	c.22 others(11): Show c.2264_*3245del	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding		2676		chr9	TogoVar
LUC7L_chr16_183990_234449	186186	GGGGAACA others(975): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01071.hp1 HG01074.hp2 others(25): Show HG00597.hp1 HG01071.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02129.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02647.hp1 HG02976.hp2 HG03516.hp2 HG04199.hp1 HG04228.hp2 NA18954.hp2 NA18957.hp1 NA18973.hp1 NA18979.hp2 NA18997.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19068.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0055 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0143	28	315	0.0889	-982	c.20 others(11): Show c.2030_*3011del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2803		chr16	TogoVar
C9_chr5_39279140_39369495	39346853	AAGGCTGG others(974): Show AAGGCTGGTTCAACATATGCAAATCAATAAACGTAATCCAGCATATAAAC AGAAACAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGC CTTTGACAAAATTCAACAGCCCTTCATGCTAAAAACTCTCTATAAATTAG GTATTGATGGGACGTATCTAAAAATAATAAGAGCTATTTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCAAAAGACAGGGATGCCCTCTCTCACCACCCCTATTCAACATAG TGTTGGAAGTTCTGGCCAGGGCAATAAGGCAGGAGAAAGAAATAAAGGGT ATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACAC GACTGTATATTGAGAAAACTCCCTTGTCTCAGCCCCAAATCTCCTTAAGC TGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAA TCCCAAGCATTCTTACACACCAATAACAGACAAACAGAGAGCCAAATCAT GAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCCAGGAA TCCAACTTACAAAGGATGTGGAGGACCTCTTCAAAGAGAACTACAAACCA CTGCTCAGCAAAATAAGAGGATGCAAACAAATGGAAGAACATTCCATGCT CATGGATAGGAAGAATCAATATCGTGAAAATGGCCGTACTGCCCAAGGTA ATTTATAGATTCAATGCCATCCCTATCAAGCTACCAATGACTTTCTTCAT AGAATTGGAAAAACTACTTTAAAGTTCATATGGAACCACAAAAGAGCCCT CATTACCAAGATAATCCTAAGCCAAAAGAACAAAGCTGGAGACATCATGC TACCTGACTTCAAACTGTACTACAAGGCTACAGTAACCAAAACAGCATGG TACTGGTACCAAAACAGAGATATAGACCAATG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0204 a0004c0003t0005g0204	1	392	0.0026	-981	c.78- others(15): Show c.78-5638_78-4658del	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
UCK2_chr1_165822614_165916618	165856329	GTCTGATA others(974): Show GTCTGATACATTAATTTATTCAGCAAACATTACGTGCCTGTTGTATCCCC AGCTCCTGGTATTTTGGGTATTAGGTGATTTTTTTTTTTTTTGTCATTAA AATTTCCTCCCCCCACCCCCACCCCACAAGTAACTTGTAATGAGCTTCAG AGGCATTTAGCTTTAAAACAAAAATCTTCCTCCCTCTTTTTAACCACACT ACCCTTGGTTCTTAGTTTAAAAATTTAGTTGACATTCCTGTGTGTTTTTA TCTTGCAATTGGCCGGAGGGTTATTTATTAGGAAAAGAGATTTTGAATGA TTTCAGTAAGTGAACTAGGAGTTGTGATACACGATTATATTAAATTGCTT ATGGTTAGTTTTCCAGGAGGTGATTTAATTGTTCACCTTCCTAAGTCTTC AGTCTTAGGCTTATCCAGTGGGAGCTGGAAAGCTTTAATAGGCAAGTTTA TTGGAACACACTTCCAGAGTCAAATGTCACTCTTGGCAGCTGCAGATGTC AACTGGGACAAGTATTCAGAGCCTGAGAATTAAGGATATGTGTTAAATAT GGCCCTCATAGGCGGCCCCAGGGTTTTTTTTTTTTTTTTTTTACTTTTGC GAACATGTTGACAGAGATGAGGCTCAGAAGGCAGGTATACATGTGCCTTG TCTTCATTCTCTGCAGAGAGAATGTTTTTAGGGGCTTGGGAAAGTATTTC AACTCGAAGAAAGGACTTATAGTTACTAGAATCTTCACATCTGCTTTCTC GAGTGACCTTGAGTCAACCACAGTCTTGTGGGGTAGATGGTATTATTCAC CCCTCTTTTGTTACATATTAACATGACAAAACTAAGACTCAGAGAGGAAG TGCCTTCCCCAAGCACATGCAGCTAGCCAGTGGCACATCCAGTACTTGAA CCCTTTTCTCTTTGAATCATGCTTTGTACTAAGCTGATCACGGTCCACTG TAGCAGTAGGTGACTTATGGTACTAAGTACCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0010 a0001c0001t0033g0010	1	320	0.0031	-981	c.99+ others(17): Show c.99+28428_99+29408del	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRCA1_chr17_43039295_43130364	43071727	AGCACGGT others(973): Show AGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGC GGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGT GTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTC CAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAA AATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAA ATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGT CAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGC TACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGT TGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGT GAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAG GGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCA CCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCC TGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTT TTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCG CGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0014 a0015c0013t0014	a0015c0013t0014g0101 a0015c0013t0014g0101	1	274	0.0036	-980	c.467 others(18): Show c.4676-1469_4676-490del	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	14/22			chr17	TogoVar
DOC2B_chr17_137789_186650	170878	GGAGCACC others(973): Show GGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCA CCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCA CCAGGGGCCGGGCCAGGTTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGC TGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAG GGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTG CAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGG GCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCA GAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGC CGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGA GGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGC AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0286 a0001c0007t0001g0290 a0001c0007t0001g0286 a0001c0007t0001g0290	2	337	0.0059	-980	c.453 others(16): Show c.453+679_453+1658del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
EXOC2_chr6_480154_698139	676239	ACTGCGGT others(973): Show ACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTCTG GAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTC CTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACA GGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAA GGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTAC GGAAAGGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAAC ATTACGGAAAGGACAGGTTCCTCTGGAGACTCTGCGGTTCCCCATACTCT TCAACATTACGGAAAGGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCAT ACTCTTCAACATTACGGAAAGGATAGGTTCCTCTGGTGACTCTGCGGTTC CCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTCTGGAGACTGTGG TTTCCCATACTCTTCAGCATTACGGAAAGGACAGGTTCCTCGGGAGACTC TGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTCTGGT GACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCT CTGGAGACTGCGGTTCCCCATACTCTTCAACATTACAGAAAGGACAGGTT CCTCTGAAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGAC AGCTTTCTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAG GACAGCTTTCTCTGGAGACTCTGCGGTTCCCCATACTCTTCAACATTACG GAAAGGACAGCTTTCTCTGGAGACTGCGGTTTCCCATACTCTTCAACATT ACGGAAAGGACAGCTTTCTCTGGAGACTGCGGTTCCCCATACTCTTCAGC ATTACGGAAAGGACAGGTTCCTCTGGAGACT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	225	0.0044	-980	c.-44 others(19): Show c.-44+15800_-44+16779del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
IRS2_chr13_109747695_109791583	109765495	AACTCCCC others(973): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCA ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGATCCAA CTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAAC TCCCCACCAAGCATGTAGATATCCCAGCCTCCTCCACCTTGGCTCCAACT CCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTCCTC CCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCC CCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCC CACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCC ACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCTCCTCCCCA CCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCAC CAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACC AAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCA AGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCGACTCCCCACCAA GCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAAC ATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCA TGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCAT GTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATG TAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATGT AGATATCCCAGCCTCATCCACCCTGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(109): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01175.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0011	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0021 a0002c0002 a0003c0010 a0004c0006 a0004c0025 a0010c0027 a0011c0028	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0001c0004t0001 a0001c0021t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0002t0013 a0002c0002t0017 a0003c0010t0001 a0004c0006t0001 a0004c0006t0007 a0004c0025t0001 a0010c0027t0001 a0011c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0109 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0013g0112 a0001c0001t0013g0113 a0001c0003t0001g0157 a0001c0004t0001g0250 a0001c0021t0001g0181 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0015 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0005g0223 a0002c0002t0007g0016 a0002c0002t0007g0203 a0002c0002t0007g0205 a0002c0002t0007g0210 a0002c0002t0007g0213 a0002c0002t0013g0043 a0002c0002t0013g0228 a0002c0002t0017g0040 a0002c0002t0017g0042 a0003c0010t0001g0062 a0004c0006t0001g0182 a0004c0006t0001g0185 a0004c0006t0001g0186 a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0007g0183 a0004c0025t0001g0281 a0010c0027t0001g0283 a0011c0028t0001g0284	112	278	0.4029	-980	c.401 others(20): Show c.4013-10167_4013-9188del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109765704	GCATGTAG others(973): Show GCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTCCTCCCCACCAAG CATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGC ATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCA TGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCCACCAAGCAT GTAGATATCCCAGCCTCATCCACCTTGGCTCCTCCTCCCCACCAAGCATG TAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGT AGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGTA GATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCATGTAG ATATCCCAGCCTCATCCACCTTGGCTCCGACTCCCCACCAAGCATGTAGA TATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATGTAGAT ATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAACATGTAGATA TCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGTAGATAT CCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCATGTAGATATC CCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATGTAGATATCC CAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATGTAGATATCCC AGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGTAGATATCCCA GCCTCATCCACCCTGACTCCGACTCCCCACCAAGCATGTAGATATCCCAG CCTCATCCACCTTGGCTCCAACTCCCCACCAAGCATGTAGATATCCCAGC CTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGTAGATATCCCAGCC TCATCCACCCTGACTCCAACTCCCCACCAAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	396	0.0025	-980	c.401 others(20): Show c.4013-10376_4013-9397del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
NRG2_chr5_139841781_140048299	139878477	AGAGAGGC others(973): Show AGAGAGGCCCATTTTACAGTAGGAAAGAATGAGGCCAACACATAGTGAGA GAAACTGTCTTGAGCCATCCTATGAGTTCTTGGACTCTTCCTCTGAGTTC TTAGATTCTGTCATGCCTGGGGCCAGTTCCACCTCTGAACTTACCAGTTT TATAAGCCAATAAATAAATCCCTTAAGATAGGCTTAAGTTAATTCTAGTC AAGAAAGTCTTGACTAATAAAATAGGAAGGCCCCAAATCCAAAGTGGATC TGAGAATGTCTGACCACTACAGCAGAGGTGGCAGGTGCTAGACCCCAGAC ACAGCCCACCTTCCCAAACTTGGGATAGGATGAGAGAAGTAGGAGCTCAG ACACCCTCCCTGCTGTCATGCCCAGGCTGGGCCATAGAGGAGGCAGTAAA GACCTTGGAGCAGGTTATAAGTTCTCTTATATAATATTTACCAGGCACCC ACTGTGAGCCAGGTGCTGTGCTAGACCCTGAGGCTAGGGTGGTAGACAGA CTAGACATAGCCCCACAGAGCTCAAAGACTAAGTGTTTGCCAACTACTTT TACATCGTACAGCTCTATCATTAACTAGGTGTTTGACTTCAGGTGAAATA TTTAATCTCCCTGAGCTTCTTATTGTTTATAAAATATATCCTGGCTTTGA GTATGGGTTCATGGGATAATGTGGAGCTTGGCTCAATAAATACTGGCTAT GATTGTAACTTCCAGGAGAAAGCATCCTCCCTGTTCTCCCCTCTCCTGAG GCTCACAGATTCACTGGGATGGCCACGCCCACAGAGAAAGTTCAGCAATA GCATGAGAGTTGAAGGCTAATCAAAGGCTAGAATTCAAGAGATGCCATCA GAGCATGGTTGGCCAAGGAGTGGCCCAGGAGTGGAGCCCTAGCTGGGAGA GACGCTGCAGTGGGTTGGGATGGTCAAGGAGGAAGAGATGAAGCCATGGC CTCCTCTTCCCACCCCACTCTCCGAACATGG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	186	0.0054	-980	c.991 others(17): Show c.991+1399_991+2378del	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	3/9			chr5	TogoVar
SLURP2_chr8_142759338_142774828	142759925	GTCACGCA others(973): Show GTCACGCACCATCCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTC TCACGCACCATACAATCCACCCGTTTACAGTGGCTAATTCAGTGGTTTCT CACGCAGCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTC ACGTACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCA CGCAGCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCAC GTACCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTTTCACG CACCATACAATCCACCCATTTACAGTGGGTAACTCAGTGGTTTGTCACGC ACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTGTCACGCA CCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTCACGTAC CATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCACGCAGC ATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCAGCA TACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCAT CCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCACCATC CAATCCACCCGTTTACAGTGGTTAATTCAGTGGTTTGTCACGCACCATCC AATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACA ATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCAGCATACAA TCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAAT CCACCCGTTTACAGTGGCTAATTCAGTGGTTTCTCACGCACCATACAATC CACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAGCATACAATCC ACCCGTTTACAGTGGGTAATTCAGTGGTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02647.hp1 HG02723.hp2 others(1): Show HG02300.hp1 HG02647.hp1 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0003g0021 a0001c0001t0001g0053 a0001c0001t0003g0021	4	427	0.0094	-980	c.37 others(11): Show c.3700_*4679del	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		4412		chr8	TogoVar
ADGRA1_chr10_133082924_133136675	133135697	TCTGGGTC others(971): Show TCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCT GGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGG TCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGT GGGTCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTG TGGGGGCAGCTGGTCTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTC CCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGG GTCCCTGTGGGGGGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCT CTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCT TGTCTCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGC GGCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGG CGGGTCTGGTCTCTGGGTCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGT GGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGTC CCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTG GGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCT CTGGGTCCCTGTAGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGG TCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGTG TCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGG GGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTG GGCGGGTCTGGTCTCTGGGTCCCTTTGGGGGGGTCCTGGTCTCTGGGTCC CTGTGGGGGCGGCTGGTCTCTGGGTCCCT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0114 a0001c0002t0006g0114	1	366	0.0027	-978	c.61 others(11): Show c.6187_*7164del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4023		chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241805369	TCCCCCCT others(971): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCC CTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	263	0.0038	-978	c.12 others(11): Show c.1204_*2181del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1083		chr2	TogoVar
LMF1_chr16_848634_975984	857692	TCGGGACG others(971): Show TCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGAT GGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTG AGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGAGTG GTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGACTCGGGACGGGTGTGCAGTGGTGACTCGGGACGGG TGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0125 a0001c0018t0001g0125	1	207	0.0048	-978	c.153 others(19): Show c.1530-3964_1530-2987del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
NEU4_chr2_241804193_241822413	241805369	TCCCCCCT others(971): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCC CTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	265	0.0038	-978	c.-39 others(11): Show c.-3908_-2931del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3823		chr2	TogoVar
RHCE_chr1_25357249_25425825	25368856	GTTCAAGT others(971): Show GTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGATTACAGGC AGCTGCCACCACGCCTGGCTAATTTTTGTAGTTTTAGTGGAGACGGGGTT TCACCGGGTTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCAC CCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATACC CAGCCTAAATATGTACAATTGATTGTATGCCAGTTACACCTCAAAAAGCT ATTTGAAGAGGAAGAAGAAGAGAAAGGAGAGGAAGGAGAAGGAAAAGAAG GGGCAGGGTCTCTCCCCAGGTCCTCTCTGCTTGACCCCTCATGCACAGGT GTCCAGGCCCATAATAAGGCTGCTTCTCTGTCTCTTTAGTGAGCAACATC TTGGATGCTGGGTGGGGCAAGCATTGGCCTGGGACTCAGAAGGCCTGGGT TCCGGTCTTGGATCTGCCACTCACAAAGGCACAACACCGGGCAGCAGCCT GACCACTGTTGGCCTGGACTTGCTGTGACAATACTGGTCCCTGCTGGTCC AGCCTACCCACAGCATTGACTAGAGGATGGCCTAAGGGGACACATCAGAG TGCTGCGTGAACTATGAGTGTAGGTCAAAGGGAGGAGAGTGGGAGGGGAG GCAGGGAGTGAGCTCCAACCTTCTTCACCTTCTTTCTAGCCCAGTCACAA CAACAAATGCTACAATGTAACACGGGACCCTCAGCAGCTGCTGAGCTGTT TGAACTTTATGTCCCTTTGCTAAGTGACCTCAGACTCCTGTACTACAATT TTTTTGTGCCTGCTTGTTATCATTTATCAAGAGCTGTGTTCAGGACTCAG CCTGGATACTCACACACTGTAAGAATTTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTGTCAGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATC TCAGCTCACTGCAACCTCTGCCTCCTGAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02027.hp2 HG02559.hp1 others(1): Show HG01106.hp1 HG02027.hp2 HG02559.hp1 NA19076.hp2	a0010 a0012 a0010 a0012	a0010c0015 a0012c0010 a0010c0015 a0012c0010	a0010c0015t0001 a0012c0010t0001 a0010c0015t0001 a0012c0010t0001	a0010c0015t0001g0106 a0010c0015t0001g0109 a0012c0010t0001g0019 others(1): Show a0010c0015t0001g0106 a0010c0015t0001g0109 a0012c0010t0001g0019 a0012c0010t0001g0020	4	332	0.0120	-978	c.122 others(18): Show c.1227+633_1227+1610del	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	9/9			chr1	TogoVar
ZNF516_chr18_76352682_76500242	76393421	AGGCAGGT others(971): Show AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp2 HG01175.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0068 a0001c0002t0004 a0001c0004t0068	a0001c0002t0004g0070 a0001c0004t0068g0062 a0001c0002t0004g0070 a0001c0004t0068g0062	2	310	0.0065	-978	c.181 others(21): Show c.1811-14096_1811-13119del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
DYRK3_chr1_206630536_206660158	206641337	GTTTTCCA others(970): Show GTTTTCCATTTCTGAGTTACTTCACTTAGAATAATGGTCTCCAATTCCAT CCAGGTTGCTGTGAATGCCATTATTTCATTCTTTTTTATGGCTAAATAGT ATTCTATGGTATATATATATATACCATAATTTCTTTATCTACTCCTTGAT TGATGGGCATTTGGGGAAATATTTAGTGTTTTAAAACAATTATAGTTTAA TATGTGTGAACACTGTAGATTTTTTTAGAACAATGGAAGGAAGGTTTTAT TTATAACACATCAGACTTGATATGTAATTGATTCAGGCCAGTATTTGAGT TATTTACAGGAAAGGAAAGAAAGTTAAGAAGAGAACCCCTCCCTGAAAGG ATTTCCTATTTAATGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCT GAAACTGGATCCCTTCCCTACACCTTATGCAAAAATTAATTCAAGATGGA TTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAAC CTAGGCAATACCATTCAGGACATAGGCATAGGCAAGGACTTCATGTCTAA AACACCAAATGCAACGGCAACAAAAGCCAAAATTGATAAATGGGATCTAA TTAAACTAAAGAGCTTCTGTACAGCAAAGTAAACTACCATCAGAGTGAAC AGGCAACCTACAGAATGGGAGAAAATTTTTACAATCTACCCATCTGACAA AGGGCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACAAGAAAA AATCAAACAGCCCCATCAAAAAGTGGGCAAGGAATATGAACAGACACTTC TCAAAAGAAGACATTGATGCAGCCAACAGACACATGAAAAAATGCTCACC ATCACTGGCCATCAGAGAAATGCAGATCAAAACCACAATGAGATACCATC TCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAGCAACAGGTGC TGGAGAGGATGTGGAGAAATAGGAACGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp2 others(36): Show HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG01123.hp2 HG01255.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02965.hp2 HG03486.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18967.hp1 NA18989.hp1 NA19001.hp1 NA19007.hp1 NA19010.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0002c0002t0009	a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0029 others(17): Show a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0116 a0001c0001t0010g0014 a0001c0001t0020g0014 a0002c0002t0009g0038 a0002c0002t0009g0039 a0002c0002t0009g0040	39	394	0.0990	-977	c.189 others(17): Show c.189+3581_189+4557del	DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(970): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01981.hp1 NA18995.hp2 others(1): Show HG00544.hp1 HG01981.hp1 NA18995.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0068 a0002c0002t0001g0009 a0002c0002t0002g0179 a0001c0001t0001g0068 a0002c0002t0001g0009 a0002c0002t0002g0179	4	222	0.0180	-977	c.981 others(17): Show c.981+1376_981+2352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
DMPK_chr19_45764717_45787490	45775394	TCTGACCT others(969): Show TCTGACCTCAAGTGATCCGCCTACCTCAGCTGTTGTAGTCCCAAACTCTG GGCTCAAGCAGTCCTCCAACCTCAGCCTCCCAAAGTGCTGGGATTACAAA TATAAGCCACTGTGCCCAGCCCAGTTCTGTTTTTTTTTTTTAGATGGAGT CTTGCTGTCTCCCAGCCTAGAGTGCAGTGGCACAACCCCAGCCCACTGCA AACTCTGCCTCCCAGGTTCAATCAAGCGATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGCATTACAGGCATACGCCACCAAGCCTGGCTAAATTTTGTAT TTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTC CTGACTTCCAGTGATCTGCCTGCCTCAGCCTCCCAAAGTTCTGGGATTAC AGGCGTGAACCACCTTGCCCAACCCTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCACTCTGTCACCCAGACTGGAGTGTAGTGGCATGATCTTGGCT CACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTC CCCAGTAACTGGAATTACAGGCACCCGAGACCACACCCAGCTAATTTTCT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGCCTAGTCTCA AAACTCCTGATCTCATGACCCACCGGCCTTGGACTCCCAAAGTGCTGGGA TTACAGGCATGAGCCACAGCGCCCGGCCGCGGTCCAGCCTATTTTTTTTT TTTTTTTTTTTTTTTTCTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCGGCTCACTGCAAACTCTGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCTGGCTAATTTTTTGTATTTTTAGGAGAGATGGGGTTTCAC CGTGTTAGCCAAGATGGTCTCGATCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(239): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0013 a0002c0002 a0002c0012 a0003c0006 a0004c0008 a0007c0017 a0008c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0012t0001 a0003c0006t0001 a0004c0008t0001 a0007c0017t0001 a0008c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0007g0071 a0001c0001t0010g0075 a0001c0004t0001g0023 a0001c0004t0001g0051 a0001c0004t0001g0084 a0001c0004t0011g0085 a0001c0005t0001g0020 a0001c0013t0001g0067 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0081 a0002c0002t0005g0060 a0002c0002t0006g0062 a0002c0012t0001g0056 a0003c0006t0001g0018 a0004c0008t0001g0029 a0007c0017t0001g0083 a0008c0015t0001g0077	242	414	0.5845	-976	c.114 others(17): Show c.1146+957_1147-361del	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	8/14			chr19	TogoVar
DPH7_chr9_137549444_137583925	137566982	TGGGTGAC others(969): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAG CTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19089.hp1 NA18990.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	250	0.0080	-976	c.641 others(17): Show c.641-2804_641-1829del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
SLC25A10_chr17_81707284_81726012	81724891	AAGTAGCT others(969): Show AAGTAGCTGGCATTACAGGCATGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTT TAGGTGTGAGCCACCACGCCCAGCCTGAAGCTCATACTTTAAAAATATTT TTTTGTGTGTGGCCGAGGGCAGTGGCTCACTCCTGTAATCCCAGCACTTT GGGAGACTGAGGTGGGCCGATCATCTGAGGTCAGAAGTTCAAGACCAGCC TCACCAACATGGAGAAAGCTCGTCTCTACTAAAAATACAAAATTAGCCGG GTGTGGCGGCCCATGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGG AGAATCACTTGAACCTGGGAGGCGGAGGTTGAAGTGAGCCAAGATTGTGC CACCGCACTCCAGCCTAGGGAACCACAGCGAAACTCCATCTCAAAAAAAA CAAAAAATAACAATAATTATTATTATTTTTGAGATGGGGTCTCGCTTTGT CACCCAGGCTGGAGTGAGATGGCACAATAATAGCTCACTGCAGCTTGAAC TTCTAGGCTGAAGCGATCCTCTGGCCTTGGCCTCCCATAGCCCTGGGACA GCAGGCATGAGCCATGGCCCAGCTGGTTTTCTGAAGTTATGGAGATTTTT ATTGCAGTCTCGTACCCGCTACACTTTTGTGAACCGCTGCATGCACGTCT GAAAAGAACACGTGTTGTCTCTTGGTTACACAGCTTAATTTGGGTATTCA TGACTTTTTGATTAGGCATGCTAATTGTAATGTGCAAATCTTCTTTTTTT TTTTTTTTTTTTTTTTTTGAGGCAAGGTTTCGCTCTTATTGCCCAGGCTG GGGTTCAATGGCTCGGTCTAGGCTCACTGCAACCTCCGCCTCCTGGGTTC AAGCAATTCTCCTGCCTCAGCGTCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-976	c.48 others(11): Show c.4815_*5790del	SLC25A10	ENSG00000183048.12	transcript	ENST00000350690.10	protein_coding		3880		chr17	TogoVar
ACOT12_chr5_81324996_81399134	81389770	GCCTGCCT others(968): Show GCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCAGG CCCAGCCTGTATTAGTTTTTCTTGATGTTCTATGACCTTGAATCTGTAAT TGTATGTCTTTCACCATATTTGGAACTCTAATTATGTTTATGTTTTATTT TTCCACAAATCTCTGACACTTTATTTTATTTATGTATTTTTTTTTTTTTT TTTGAGACAGGGTCTTGCTCTGTTACCCAGGCTGGAGTACAGTGGTGCAA TCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAAGTCATCCTCACACC TCAGCCTCCTGAGTAGCTGGGACTACAGGTACATGCTACCATGCCTGGCT AATTTTAACATTTTCTTTTTTTGGTAGAGACAGGATCTCTCTATGTTGCC CAGGCTGGTCTCAAGTTCCTGGGCTCAAACCATCCTCCTACCTGAGCCTC CCAAAGTGCTAGGATTATAGGCATGAGCCATTGTACCTGGCCACACTTTA TTTTTAAAATTCATTTTTTTCTGTTCTTAGATTGGATAATTTATATTGAT GTATTTTTGCATTTACTAACTCTTTTCTCAGCCATGTCCATTCTGCTGTT AAGCCTAGCCATTGAGTTTGTTATTTTAGACACTGTATTTTTCAGTTCTG GAATTACCATTTGGCTTTTAAAAAATAGTTTCTATTACTCTGCAGAAATG TACTGTCTTTTCAATCTTTTTCTTCTTTTTCTTTTTCTTTTGAGATGGAG TCTCATTCTCAAATGAGACTCCAGCACTGGCTGGAGTGCAGTGGTACAAT CTCGGCTCACTGCAATCTCCACCTCCCAGATTCAAGTGATTCTCCTGCCT CAGCCTCCTGTGTAGCTGGGATTAAAAGCACCTGCCACAACACCCGGCTA ATTTTTGTATTTTTAGTAGACAGGGTTTCATCATGTTGACCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG02145.hp1 others(3): Show HG00323.hp1 HG01243.hp1 HG02145.hp1 HG02735.hp1 HG03471.hp1 HG04115.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0003 a0003c0003t0004 a0001c0001t0003 a0002c0002t0003 a0003c0003t0004	a0001c0001t0003g0196 a0001c0001t0003g0197 a0002c0002t0003g0198 others(2): Show a0001c0001t0003g0196 a0001c0001t0003g0197 a0002c0002t0003g0198 a0003c0003t0004g0015 a0003c0003t0004g0195	6	276	0.0217	-975	c.127 others(17): Show c.127+3243_128-3945del	ACOT12	ENSG00000172497.9	transcript	ENST00000307624.8	protein_coding	1/14			chr5	TogoVar
CNTNAP2_chr7_146111801_148425998	146556735	AAACAAAG others(968): Show AAACAAAGTGTAATATTTACAGGGGCAGAGAGGACAGCATAAGAATGAAA AGAGTTAGTGAAATCTGACCTTTGGTGAGCTGGCACTATTTAGTAAATCT CCCTTGCCTTGGTGAAAGGGATTGGCTTCCAGTACAGTTAATTCCACATG GAAGAGAAATATAGGAGCTTTAGCCCTGAGGGATATTGCTCTATAAGCCC AGGTTCTTTTCAGATTATTCTGGTTGATTAAACACACAGAGAAATAACCC TTTTAAAGTTGTACATATATTAAGAATTGGAGTAGGCATATAAGCATCAC CTTACAACCGACAAAACAGATTTCCAAGCAACATACAATTTAAATTAATG CAGTTGTACGTAATAATGATTATTTTCCAAATGATCTATTTGATTGGTAT ACATGCTTTCTGACTCTTCTCCCAACAGTGCCATCAGCTGTAAGGGAAGG ATTGTGGACTAAACTCACTCCCGATATTTAGATTATGAAGGCAAAGAAAC TATGGAGAGGATAAGACAGGAATTTTTAAAAGGAGAGGACTAAGAAGACA GGGGCAGTATGTACTATATTGTTACCCTCCCAGGCTGGAGGTGTGGAAAA CTATTATAAACCGCTAATGATCATTTTTTTGGTGTTCGTTATTAGAACCA ATGGAAGGAAACATAGCAGGTGAACCTCACTGTATTCTCTAAGGTCTTTC CAGAAAAGTTGTGCCTTTATAATTAATTCTATTGTCTATTAGAGTATACA GTTAAGTGCATATACCAAACTTCTTTGGTAAAATGTATAGAATTAAAGAC TTTCAGGGCTGATAAGAGGCCCAGTAAGTCATACAGGTTAGAATTCTCAG AAAGTTAAAAGCCTTATGAGAAATTTCCATTGGCTCAAATCAGATGAGAA TAAAACTTGATCCTACGTGTCTTAATATTCAGTCTAGGAGACTTGCCAGT ACCCAGTGCTTCTTTATTGACTGATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG03540.hp1 HG02451.hp2 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0010 a0001c0004t0005 a0001c0001t0002 a0001c0002t0010 a0001c0004t0005	a0001c0001t0002g0006 a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0001t0002g0006 a0001c0002t0010g0002 a0001c0004t0005g0004	3	40	0.0750	-975	c.98- others(19): Show c.98-217532_98-216558del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CROCC2_chr2_240901336_240998311	240907870	GGTGAGCT others(968): Show GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCA GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG CGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02148.hp2 NA18948.hp1 HG01433.hp1 HG02148.hp2 NA18948.hp1	a0006 a0017 a0006 a0017	a0006c0006 a0017c0041 a0006c0006 a0017c0041	a0006c0006t0003 a0017c0041t0003 a0006c0006t0003 a0017c0041t0003	a0006c0006t0003g0113 a0006c0006t0003g0115 a0017c0041t0003g0114 a0006c0006t0003g0113 a0006c0006t0003g0115 a0017c0041t0003g0114	3	348	0.0086	-975	c.78+ others(15): Show c.78+1327_78+2301del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM149A_chr4_186099704_186180337	186174652	ATTAAATT others(968): Show ATTAAATTGGAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGC CCTGTCATTGATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCC ATGTTAAAGTTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAG TAAATAATGCTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAA ATTAGGGCAGTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGA ATTAATCTATTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAG ATTTTTAAATTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATT AAAATGCCTGTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTA AAACAATCTAAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTG AATTTAATATAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATG GAATTTCTACACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATT ATATTTTTTATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTG ATTCCTTAATTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAA TGTGTAACATTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTT GTGCAAATATCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTAT TTCTAACTACATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCAT ATATATTTGCAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTT TGTTTCAGAAGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTC ATCAAACATTTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCAT TATAGTGAACAAGACAGTCTTTGGCC	A A	splice_region_variant splice_region_variant	LOW	HG00673.hp2 HG02004.hp2 HG00673.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0052 a0001c0014t0042 a0001c0001t0052 a0001c0014t0042	a0001c0001t0052g0043 a0001c0014t0042g0005 a0001c0001t0052g0043 a0001c0014t0042g0005	2	388	0.0052	-975	c.26 others(11): Show c.2666_*3640del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14			chr4	TogoVar
FBXL14_chr12_1560993_1599581	1578406	CGAGGTGG others(968): Show CGAGGTGGGTGGATCACCTGAGATCAGGAATTTGAGACCAGTGTGGTCAA CATGGTGAAACCCCATATCTACTAAAAATACAAAAATTAGCCAGGCATGA TGACAGGCGCCTGTAATTCCAGCCACTTGGGAGGCTGAGGCAGGAGAATA CTTGAACCTGAAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGTGACAGAGCAAGACGCCGTCTCTAAAATAAAATAAAACA ATGGATAGTTTGTCCAACATGGTATGTTAAAAGCGCAGAGAAGCTGAAGA ATGATGATGAAGACTAAAATAACGATGATAAGCAAAGAACTAAGCAGGCA TCTGTGCAGTGATTCAGGAGGGGTGTCCATGAGGGGCGGCTTCGGAGCAG CTCTCCCTGTAACTTATCTCACAGTTCCCTCCTCCTTTAAGGAGTCAGAC CACGGTGGGCTTTGCTTTAGAGACATGCCACTGTGTGCTTTGTTGCTCGT GACTATCCCTTCACCTTTCTAGAGGTGCTCGTCTTCATGTAAAGTCGGGT GAAGCTTTTTCACTCCTGGAGAAAAGCTCTTACAACATTTTTGGGACAAG GAGCAGGTGTGCCTCAGCGAGCCTGTCATTATCTGGGGAGGGGGCTCCAG ATAACACACTTCTACTTGCTTTCTTTAGGGAAACGACATGGTCTCCTCCT GTAACACTCCCCAAAAGAAGTATGAAAGCCGACATAAAATACGAATATGA TCTTTGCATTAAGTATTAAATATAATACCTTCAATGTAGTATTTGTGCTT CTCTCTATCCAGTTCTCAGTTGTTTAGGGATCTTCTGAGGGCAAACCAAA AATGTCAGTAAAGCAAAAATATATCAATAAGGCATCATACTGACGAAAAC AAAACCAGAGGTTTTAAAAAATAATCTGGGCCGGGCACGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG00642.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0221 a0001c0001t0001g0169 a0001c0001t0001g0221	2	415	0.0048	-975	c.119 others(21): Show c.1195-12571_1195-11597del	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FOXN3_chr14_89151177_89422233	89361501	TCCACCAC others(968): Show TCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCA CTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCAC CACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCACCT CCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCTCCACCACC ACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCA CCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTACC ACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACC TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCAC CACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCA CCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGC ACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCAC CAGCTCCACCACCTCCTCCTCCACCA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	207	0.0048	-975	c.544 others(19): Show c.544-11668_544-10694del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GSTA2_chr6_52745087_52768475	52761820	GGCAGGGA others(968): Show GGCAGGGATGTGTGGGGAAAAGAAAGAGAGATCAGACTGTTACTATGTCT ATGTAGAAAGAAGTAGACATAAGAGACTCCATTTTGTTCTGTACTAAGAG AAATTCTTCTGCCTTGAGATGCTGTTAATCTGTAACCCTACCCCCAGCCC TGTGCTCACAGAAACATGTACTGTGTGGACTCAAGGTTTAATGGATTTAG GGCTATGGAGGATGTGCTTTGTAAACAAATGCCTGAAGGCAGTATGCTTG TTAAAAGTCATCACTATTCAGTAATGTCAAGTACCCAGGGACACAAAACA CTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTGTCCAA GGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAAGGGAAAG ACCTGATAGTCCCCCAGCCCGACACCCATAAACGGTCTGTGCTGAGGAGG ATTAGTAAAAGAGGAAGGCCTCTTTGCAGTTGAGATAAGAGGAAGGCATC TGTCTCCCGCTTATCCCTGGGCAATGGAATGTCTTGGTGTAAAACCCAAT TGTATGTTCCATCTACTGACATAGGAGAAAACTGCCTTAAGGCTGGAGGT GAGACATGCTGGCGGCAATACTGCTCTTTAATGCACCAGATATGTTTATG TATGTGCACATCAAAACACAGCACATTTTCTAACCTTGTTTATGACACAG AGACGTGAGTTTGTTCACGTTTTCCTGCTGACCCTCTCCCCACTATTATC CTATTGTCCTGCCACATCCCCCTCTCTGAGATGGTAGAGATAATGATCAA TAAATACTGAGGGAACTCAGAGACTGGCGCCAGCGCAGGTCCTCCATATG CTGAGCCCCGGTCCCCTGGACCCACTTTTCTTTCTCTATACTTTGTCTCT GTGTCTCTTTCTTTTCTCAGTCTCTCATCCCACCCAACAAGAAACACCCA CAGGTGTGGAGGGGCAGGCCACCCCT	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0013 a0007c0010t0013	a0007c0010t0013g0103 a0007c0010t0013g0103	1	438	0.0023	-975	c.-31 others(16): Show c.-31+649_-31+1623del	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
IFITM3_chr11_314676_325860	321466	TTCACTAT others(968): Show TTCACTATGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGGT GCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGGTGCCCAGGCAGC TGGATTATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCCC ATAACCCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAC TATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCA GGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGAT TATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATAAC CCTCACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGG TGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCAGGCAG CCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGATTATCC CATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCA CTATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCC AGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGA TTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATAA CCCTCACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATG GTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCAGGCA GCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGATTATC CCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATAACCCTC ACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGGTGCC CAGGCAGCTGGATTATCCCATAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	30	0.0333	-975	c.-16 others(10): Show c.-1628_-654del	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		607		chr11	TogoVar
KRBA1_chr7_149709951_149739575	149720179	CCCCAGGC others(968): Show CCCCAGGCAATGCGTGACCTCAGCCTACTCAGTCCAGCCTCTCACCTCCC TGCCTCCCCTACTGCAACCTCCCAAGCTTTCACCCCTCATCCCTCTGGGC TGGAAGCCTGTTATGCAGAGAAGCACTCAGAGAAAGCCTGGGGTCACCCT GGAGAGTACCTCCTGCCTCAGGCCCCCCACCCACCACCACCCTGAAGCCT TATCACAGCCACCCCTGCAGAACCTGCTCCAGCTCCCAAAAGTCCTGCCA CGAGGCTTACATCCCAAGACCTCAGATGGTGGATGTGCTCCACCGGCCCA GACTGGGCAAGGCCAGGCATTTAGGGGGTGCCAGGAAAGGCAGAGGGCCC AGATGGTGGAAGAAGTGTAGCGGCAGCCCGCCTGGGCATTCCCCTGGGAG GCATGGAGATTAATGAGTAACGTAGAACAGAGGAGCCCTGTTACCCAGGC CCCGCCCCCATGCCCTGGCTGTCCCTTGGCCAGAGCGCCTGGCCTGAGCC CAGGTCCTCTATATCTCATGGGACATGGTGTCTCCTCTGGCTGCTCCTCA TGTGGCTGGGAGGATTACGTGAGATGCTGGGTGTGAAAACACGCACGTAG GTGTGAGTGCTGAGCAGCCGCAGGGGTGCGGGGGGGTCACTGTGGCCTCT CTGCAGGGGGACAGCCCCGGCACAGCCTGCACCTCACAGCCCTGGTGCAG CTGGTGAAGGAGATCCCAGAGTTCTTGTTTGGAGAAGTCAAGGGCGCTAT GGACAGCCCCGAGAGCGAGAGCCGGGGAGCCAGCCTGGATGGAGAGAGAG CGAGCCCCGAGGGTAAGTCAGACAGTGGGGCAGTGCACGCAGCCTCCTCT GCACTCCGCATGATGAAGCACAAGTCCACGGCACTGCACTGCATGTGGGC TTGCAGGCACAGGCCGGGAGGCAGAGTCACCTGCTGTTCCTCGTGGCTAG GCCGTGTGCCGCCCTCTGAGCACATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19077.hp1 NA19077.hp1	a0026 a0026	a0026c0017 a0026c0017	a0026c0017t0001 a0026c0017t0001	a0026c0017t0001g0160 a0026c0017t0001g0160	1	412	0.0024	-975	c.259 others(14): Show c.259+57_415+168del	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEZ6L_chr22_26164462_26388596	26336173	CATTTCTC others(968): Show CATTTCTCTGATGCCATGTGGTCACATGGGCAAGCCAGAAGTTCTAGGGA CTCAACACATCCAGGAGCATCCCTCAGTCAATAAAGGATGGAAACTGGAG GATAAATACCCCAGCTCCTTCTCCCTATGGATGTGTTCTGCACCATCTCT AAAATTCCTGCAGGACTGAACCCAAAATGCACAGTGAAACCTGCTCATCA ATCCCCTCTTCGTTGAGTCCTTCCCTTCTTCTTGTCTCATTTCCCCACCA GTGCTGCCTAGGATGGCCTCCCAGACAAGCCAGACTTCAAAAGGCATTTG TATGTTTGCTTGATCTCTGCATCTGGAGAATCCAAATGCAATCAACAGCC AAGTATCTCTCTTTGGAAAGTGGAAATCCACTGCACCTATTGTCTTGTTC TTAGCTTAGGGAGACACTGCTAAAATTTCAGAACAACAGAAGAAATTGCA TTTAATGGTCTGTTGCACACCGTTTACAATGTGCATTTATATAAGTCATG GTTTCTCGAGTTTAGCCCTGTTGACATTTTGGACTAGATACTTTTTTGGG TTGAGGGGCTGTCTTGTGCACTGTAGTATGTTTAACAGCATCCCTGGCCT CCACTCACCCATGGTACCCACCTAGTTAGGAAAAATATGTTTCCAGACAT TGCCAAATGTCACCTGTGAGGAAAACTGCCCCTAGTTGAAAACCACTGAC ATAAATCATCTGATGTCATTTGGCATAAACAGAAATCCAAAGAAGGATGA TGGTGGTGATGATGATGATGACGATAGTGATGATGGTGATGGTAACGATG ATGATGCCAAAAATGAAAGTGGAATATAACAACATAACATTCAAATGACA TCACCGAGCTTGCCCAGGTGCTAATGCTGAAGCTGGAATTTGAATCCAGA CCTTCTGCCTGCCTCACCTCATCCCCAGAGCTCATGACATAGACGAGGAA TATTAAGGCTGATTCACAGACAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	238	0.0042	-975	c.201 others(19): Show c.2016-4257_2016-3283del	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM95_chr17_7350156_7362219	7361244	TGGGTGTG others(968): Show TGGGTGTGATGGCGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGT GAGAAGATCGCTTGAACCCAGGAGGTCAAAGCTGAAGTGAGCTGACATCA CACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACCCTGTCTTAAAAAA AAAAAAAAGAAAGAAACACAAACTCCTCCAACCTCTCATGCCACATGCTC AGGAAGAGCTTACTAGAGGAATTTATATCACAAGGGTTCAGAGAAGGGGC TGGGGTTGTCAAGGACATACCCTGGAGTCTGCCATGTGCCAAACACTGTG GAAACAAAGATAAAAAACCACTAGGTGGGTAGGCACGGTGGCTCATGCCT GTAATCCCAGACTTTGGGAGGCCAGGGTGGTTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCCTGGCCAACATGGTGAAACCACATCTCTACTAAAAA TACAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAATCCTAGCTACTC TGGAGGCTGAGGCAGTAGAATCGATTGAACCCAGGAGTAGGAGGTTGCAG TGAGCCAAGATTATGCCACTGCACTCCAGCCTGGGTGATGGAGCGAGACT CGGTCTCGAAAACAAACAAACAAACAAACAAAAAACCTGTTAGCTGGTGG TTTAATAGGGCAGGGCATGGTTTGGAGGGAAGATGGATTGGTAAAGAAAC ACCACCACCTTGATGTGACACAGCTGAGGGATGTCTAGAGAAGGGACACC CCCAGGGGCTCAGAGAAGGATTCTCAGAAGAGGTTGTGCCTGAGCCAAAG GAGAAAGACATCCCAGGTATAAGGACAAGCCTGGGCAATGACAGATGAAA AAGCAGGAGGTGTTTGGGCAGCTACAGGTGATTCAGTATGGCCGTGGGGG GTGCGTTGGGTGGGCAGTGCTGAGAGATAAAGCCGCAGGGACATGTGGGG GCCAGATTCCAGGAAGTATTACACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG01168.hp2 others(12): Show HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01943.hp2 HG01952.hp1 HG02148.hp1 HG02148.hp2 NA19030.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002	15	430	0.0349	-975	c.46 others(11): Show c.4613_*5587del	TMEM95	ENSG00000182896.13	transcript	ENST00000576060.6	protein_coding		4026		chr17	TogoVar
DCAF1_chr3_51392842_51505015	51474063	TTTCCCAA others(967): Show TTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACATCTGGCCCCTT CCAGTCTTAAGAATTAAACTCTCCTGGCCGGCGCCGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTTGGGA GTTCGAAATCAGCCTGACCAACATGGAGAAACCCCGTCTCTGCTAAAAAT ACAAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTC GGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCGGAGGTCGCGG TGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGCCAACAAGCGCAAAAC TCTGTCCCAAAAATATAACTAAATAAATATAAAAGAGTTAAACTCTCTGC AAAAATTACTGGTCCACTCTAATCAAGCTTCATAAGTATTTCTGCTTTTT CTTCCTTTCCCTCTAAACTCTGAAACCTCTCTTTAACACAAAGGGCAATC ACACAAAATAATGTATGTGTACTTGTTTTTTTTGTTGGTGATGGTTTTTT TTTTTTTAATGTTTTTTTAAGAGACAGGGTCTCACTGTCTCTCAGGCTGG ACTGCAGTGGCGCAGTGGCACAATCGTACCTCACTGCAGCCTCAAACTTC TGAGCTCAAACAATCCTCCTGCGTCAGCTTCCCAAGTAGGTGGGACTACA GGTGTCAATCAGCATGCCTGGCTTTTTTTTTTTTTTTTTTGAGATGGAGT CTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCAGCTCACTG CAACCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTACCTCAACCTCCTGAG TAGCTGGGGTTACAGGTACATGCCACCATGCCCGGCTAACTTTTGTATTT TTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTAACTCCT GACCTCATGATCCACCTGCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	272	0.0037	-974	c.111 others(17): Show c.111-4032_111-3059del	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	3/24			chr3	TogoVar
DPH7_chr9_137549444_137583925	137566894	TGGGTGAC others(967): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTG ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	316	0.0032	-974	c.641 others(17): Show c.641-2714_641-1741del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
LIN54_chr4_82919603_83015823	82974533	CCGAGACC others(967): Show CCGAGACCAGCCTGGCCAACGTGGTGAAACACCATCTCTACTAAAAATAC AAAAATTAGCCGGGCGTGATGGCACACACCTGTAATCCCAGCTACTTGGG AGGCTGAAGCAAGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAGTGA GCCACGATCGCACCACTGCATTCCAACCTGGGCGACAGACTGAGACTCCA TCTTAAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGGATCACTTGAACC CGGGAGGCACAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCC TGAGTGACAGAGTGACAGACTGTCTCAAAAAAAAAAAAAAGCAAAAACGT AGATACAAAAGTGGGATGGTGGCTGCCGGAAGCTGGATTGGGGAAGGAAG AATAAGGAGTTTTTGTTTAATGGGCACAAGATTTCAGTTTTGCAAAAAGA AAAAGTTTTAGAGACGGGATGGTGGTGATGGTTGTATAACAATGTGAATG TACTTAATGCCAATGAACTATACACTTAAAACAGTTAACATGAGGCTGGG TGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGT GGATCACTTGAGGTCATAAGTTCAAGACCAGCCTGGCCAAAATGGTGAAA CCCCTTCTCTACTAAAAATACAAAAATTAGCCGGATGTGGTGGAGTGTGC CTGTAGTCTCAGCTCCTTGGGAAGCTGAGGCAGGAGAATCACTTAGTGAG TTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAAACTGCAT CTCAAAAAAAAAAAAAGTTAAGATGGTAAATTTTGTGTTATGTATATCTT ACCACAATTTTTTAAAAATAAGTTTTTTAAAAGAACTACATGATGAGGCC AGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTG GGCGGATTAGCTGAGGTTAGGAGTT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	302	0.0033	-974	c.808 others(17): Show c.808+3376_809-4065del	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	3/12			chr4	TogoVar
OR6C3_chr12_55325746_55337636	55333425	TGCTATTG others(967): Show TGCTATTGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGTGT AGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACTAAGAAAAAT TCTTCTGCCTTGAGATTCTGTTAATCTATAACCTTACCCCCAACCCCGTG CTCTCTGAAACGTGTGCTGTGTCAACTCAGAGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTTA AGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAAAACTGC GGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGGTT TCTCCCCATGTGATAGTCTAAAATATGGCCTCGTGGGAAGGGAAAGACCT GACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCTGAGGAGGATTA GTAAAAGAGAAAGGAATGCCTCTTGCAGTTGAGACAAGAGGAAGGCATCT GTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTATAAAACCCGATT GTATGCTCCATCTACTGAGATAGGGAAAAACCGCCTTAGGGCTGGAGGTG GGACCTGCGGGCAGCAATACTGCTTTGTAAAGCACTGAGATGTTTATGTG TATGCATATCTAAAAGCACAGCACTTAATCCTTTACATTGTCTATGATGC CAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACAATTGTC TTGTGACCCTGACACATCCCCCTCTTCGAGAAACACCCACAAATGATGAA TAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATTATGCTGAAC GCTGGTTCCCCGGGTCCCCTTATTTCTTTCTCTATACTTTGTCTCTGTGT CTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGAGAAACACCCACAGG TGTGTAGGGACAACCCACCCCTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(175): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0004c0004 a0005c0005 others(4): Show a0001c0001 a0004c0004 a0005c0005 a0006c0006 a0007c0011 a0008c0007 a0011c0009	a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 others(5): Show a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0006c0006t0002 a0007c0011t0001 a0008c0007t0001 a0011c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0004c0004t0001g0004 a0004c0004t0001g0012 a0005c0005t0001g0002 a0006c0006t0001g0004 a0006c0006t0002g0004 a0007c0011t0001g0002 a0008c0007t0001g0002 a0011c0009t0001g0002	178	448	0.3973	-974	c.79 others(10): Show c.790_*1763del	OR6C3	ENSG00000205329.3	transcript	ENST00000641740.2	protein_coding		790		chr12	TogoVar
PSD3_chr8_18522303_19018703	18793941	TATGAAGC others(967): Show TATGAAGCTGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGT GTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTGCTAAGAAAA ATTCTTCTGCCTTGAGATTCTGTTAATCTATAACCTTACCCCCAACCCTG TGCTCTCTGAAACGTGTGCTGTGTCAACTCAGAGTTGAATGGATTAAGGG CGGTGCAGGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCT TAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAAAACT GCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGG TTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAAGGGAAAGAC CTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCTGAGGAGGAT TAGTAAAAGAGGAAGGAATGTCTCTTGCAGTTGAGACAAGAGGAAGGCAT CTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTATAAAACCCGA TTGTATGCTCCATCTACTGAGATAGGGAAAAACCGCCTTAGGGCTGGAGG TGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCATTGAGATGTTTATG TGTATGCATATCTAAAAGCACAGCACTTAATCCTTTACATTGTCTATGAT GCCAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACAATTG TCTTGTGACCCTGACACATCCCCCTCTTTGAGAAACACCCACAGATGATC AATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATATGCTGAA CGCTGGTTCCCCGGGTCCCCTTATTTCTTTCTCTATACTTTGTCTCTGTG TCTTTTTCTTTTCCAAATCTCGCGTCCCACCTTACGAGAAACACCCACAG GTGTGTAGGGGCAACCCACCCCTAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(120): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18981.hp1 NA18989.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0013 others(18): Show a0001c0001 a0001c0002 a0001c0013 a0001c0016 a0001c0017 a0001c0025 a0001c0027 a0001c0028 a0002c0003 a0002c0007 a0002c0011 a0002c0032 a0003c0004 a0003c0008 a0004c0009 a0004c0010 a0004c0021 a0005c0020 a0007c0018 a0008c0034 a0011c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(84): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074 a0001c0001t0078 a0001c0002t0001 a0001c0002t0008 a0001c0002t0038 a0001c0013t0001 a0001c0016t0001 a0001c0017t0005 a0001c0025t0023 a0001c0027t0037 a0001c0028t0006 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0013 a0002c0003t0018 a0002c0003t0034 a0002c0003t0040 a0002c0003t0084 a0002c0003t0085 a0002c0007t0002 a0002c0007t0017 a0002c0007t0027 a0002c0007t0030 a0002c0011t0002 a0002c0032t0046 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0013 a0003c0004t0027 a0003c0004t0035 a0003c0004t0041 a0003c0004t0045 a0003c0004t0051 a0003c0004t0077 a0003c0004t0080 a0003c0004t0082 a0003c0008t0007 a0003c0008t0011 a0004c0009t0003 a0004c0009t0009 a0004c0009t0012 a0004c0009t0076 a0004c0010t0002 a0004c0010t0012 a0004c0021t0001 a0005c0020t0059 a0007c0018t0056 a0008c0034t0001 a0011c0036t0001	a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0047 others(120): Show a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0002g0133 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0197 a0001c0001t0003g0132 a0001c0001t0003g0153 a0001c0001t0003g0195 a0001c0001t0004g0221 a0001c0001t0006g0173 a0001c0001t0007g0104 a0001c0001t0012g0177 a0001c0001t0014g0210 a0001c0001t0015g0169 a0001c0001t0015g0174 a0001c0001t0015g0190 a0001c0001t0016g0087 a0001c0001t0021g0136 a0001c0001t0024g0028 a0001c0001t0026g0148 a0001c0001t0026g0161 a0001c0001t0028g0040 a0001c0001t0029g0045 a0001c0001t0029g0098 a0001c0001t0030g0152 a0001c0001t0043g0159 a0001c0001t0047g0090 a0001c0001t0049g0154 a0001c0001t0050g0178 a0001c0001t0052g0208 a0001c0001t0053g0032 a0001c0001t0054g0054 a0001c0001t0055g0167 a0001c0001t0058g0008 a0001c0001t0060g0175 a0001c0001t0063g0092 a0001c0001t0064g0034 a0001c0001t0065g0010 a0001c0001t0069g0018 a0001c0001t0073g0022 a0001c0001t0074g0006 a0001c0001t0078g0218 a0001c0002t0001g0019 a0001c0002t0001g0080 a0001c0002t0008g0108 a0001c0002t0038g0124 a0001c0013t0001g0013 a0001c0013t0001g0101 a0001c0016t0001g0044 a0001c0016t0001g0077 a0001c0017t0005g0029 a0001c0017t0005g0030 a0001c0025t0023g0162 a0001c0027t0037g0107 a0001c0028t0006g0199 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0074 a0002c0003t0004g0217 a0002c0003t0004g0225 a0002c0003t0007g0111 a0002c0003t0009g0017 a0002c0003t0009g0094 a0002c0003t0010g0072 a0002c0003t0011g0099 a0002c0003t0013g0141 a0002c0003t0018g0212 a0002c0003t0034g0042 a0002c0003t0040g0058 a0002c0003t0084g0228 a0002c0003t0085g0227 a0002c0007t0002g0135 a0002c0007t0002g0170 a0002c0007t0017g0117 a0002c0007t0027g0168 a0002c0007t0030g0165 a0002c0011t0002g0122 a0002c0032t0046g0097 a0003c0004t0001g0014 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0003g0093 a0003c0004t0004g0219 a0003c0004t0008g0109 a0003c0004t0011g0203 a0003c0004t0011g0204 a0003c0004t0013g0015 a0003c0004t0027g0156 a0003c0004t0035g0021 a0003c0004t0041g0126 a0003c0004t0045g0082 a0003c0004t0051g0024 a0003c0004t0077g0106 a0003c0004t0080g0220 a0003c0004t0082g0215 a0003c0008t0007g0128 a0003c0008t0011g0025 a0004c0009t0003g0123 a0004c0009t0009g0033 a0004c0009t0012g0151 a0004c0009t0076g0155 a0004c0010t0002g0131 a0004c0010t0002g0145 a0004c0010t0012g0118 a0004c0021t0001g0100 a0005c0020t0059g0214 a0007c0018t0056g0200 a0008c0034t0001g0064 a0011c0036t0001g0127	123	226	0.5442	-974	c.208 others(19): Show c.2082+4380_2082+5353del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	8/15			chr8	TogoVar
TMEM132D_chr12_129066726_129909025	129857741	ATAACAGA others(967): Show ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTG TAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG AAACGGGATGGGTGCCCTTGTAACAGAGTCCTGGGAAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGAAACGGGATGGGTGCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01433.hp2 others(9): Show HG01074.hp2 HG01167.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02647.hp2 HG02965.hp2 HG03927.hp2 NA18522.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0003c0005 a0006c0015 a0009c0009	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0006t0002 a0001c0007t0004 a0002c0003t0009 a0003c0005t0023 a0006c0015t0024 a0009c0009t0002	a0001c0001t0002g0008 a0001c0001t0002g0078 a0001c0001t0003g0055 others(9): Show a0001c0001t0002g0008 a0001c0001t0002g0078 a0001c0001t0003g0055 a0001c0002t0001g0012 a0001c0004t0001g0061 a0001c0006t0002g0036 a0001c0006t0002g0076 a0001c0007t0004g0075 a0002c0003t0009g0018 a0003c0005t0023g0088 a0006c0015t0024g0087 a0009c0009t0002g0080	12	83	0.1446	-974	c.79+ others(17): Show c.79+44546_79+45519del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
DHRSX_chrX_2214506_2505976	2277660	AGAGGGAG others(966): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAAT GGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	45	0.0222	-973	c.389 others(19): Show c.389-11686_389-10714del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
SORBS1_chr10_95306773_95566371	95447297	GTCTCCAC others(966): Show GTCTCCACCAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGT AGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGGTCACTTGGACCCAGGA GGCCTCAGAGGTTGCAGTGAGCCAAGATTGCTCACTGCACTCTAGCCTGG GTAACAGAGTGAGACCCTGTATTTAAAAAAAAAAAAAAAATCTAATCTGG GACTTGATTTTATATACGTACAGCTACTTCCAACAGCTTGAAAAGAATAG AGACAGCGCACAGAGCCCCAGAATAAATGCCTGGCCTTATTTCTTTGTAC TTTGCAGATCCACTAGCAGAGCCACGTTTCTCCAATTTTTCAACAGCTCC TTCTCTTCTCAATCTCTATTAATGTCACTTCTCTTCAAATGCACCCTCTA CATTATTGCAAAGGGTGCAGAAGGCTCTTCAGAAAGCCAGAAAGGATAAA CACTGAGTCGCTGATACTTCCGTTCAAGGGGAAGAAAGTGGGATAAACTT GACCCTGACATTAACTTCAGTCTAGAATCCCATGACACTCCTGGGAGCTC AGAACACAACAAGCACGAAGTTTCTGTAAAAAGACCAATGTTTCTGGAGA GGGAGCAATAGGAAAACACATCAGAAAGGCCATCCTCCACATCCTCTCAT TTCCTCCTGGAGTCCCTCCAACTCAGTTTCCGTTCTAACCAATTATCTGA AATGGCCTTCAGAAAGACTTCCAGTGCACACGCATGGCCAAGTCCAACGG TTTCTGCACTGGTCCAGGCTTCACTGATCTTTCCACTGCATTTAAGACAG TTAACTCCTTCCTCCTCCCCACACTTTCTGGTCTTGATTTCTAAGTGTCA CTGTAAACTGATTTACACTGGGCCATGAGGATCCTTCTAGAACAGGGCCT CTGCAGTTCTTCAGGAGTTTAGGGAGCCAGAGGGCCCTCAGCTGGTCTTT ATTCTGTTCCAACTACATGCTCAC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0271 a0001c0001t0036g0271	1	298	0.0034	-973	c.-45 others(17): Show c.-45-7090_-45-6118del	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar

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