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
DHRSX_chrX_2214506_2505976	2277571	AGAGGGAG others(612): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	46	0.0217	-619	c.389 others(19): Show c.389-11243_389-10625del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277660	AGAGGGAG others(612): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	45	0.0222	-619	c.389 others(19): Show c.389-11332_389-10714del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
IDI1_chr10_1034419_1054119	1046951	CTGTCTAC others(612): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG03225.hp1 others(1): Show HG02559.hp1 HG02622.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0008 a0001c0001t0006g0024 a0001c0001t0004g0008 a0001c0001t0006g0024	4	436	0.0092	-619	c.140 others(17): Show c.140+1294_140+1912del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
NEU4_chr2_241804193_241822413	241806988	ACCCTCCC others(612): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCA CGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA19002.hp2 HG02897.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0004t0001g0110 a0001c0001t0001g0003 a0001c0004t0001g0110	2	230	0.0087	-619	c.-22 others(11): Show c.-2289_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
NUF2_chr1_163316954_163360759	163358291	GCTTATTT others(612): Show GCTTATTTTTTTATTTTTTTTGTAGAGACAGGGTTTTGCCATGTTGGCTA GGCTGGGCTCGAACTCCTAACCTCAAGTGATTCGCCCGCCTCGGCCTCCC AAGGTTCTCGGATTGCAGGCATGAGCCACCGCTCCTAGCGAAATCTAATG CTTTTTTAACTGTCAGCTTTTCCTTTTTTCTTTTATTTTTACTGTAATTT GTATCATTATATTGTATTTTTTTTTTACACATGTTACACCTTGCTGGACT TAAGGTTTTTCAAGCCCAGTAACTAATCTGTTTTAGTATTTCTACTCTAG CATGGAACCAAGCACCTGGTAGTCACTTAAATGTTTACTTAAGGAATAGC CATCACTCTCCTATGACCAAAGCATATAACCTTGAGGCCAGGTTTATCCC AGCAAGAAATGTTATCTTTTATGCATTTTTTATGCCAAATAACATATGTT TCAGCAGTTTGATATTTTCACTTTCTATTTTTGCCCCCAAAGAGGTAAAA AGCCTTATTTAAGAGGCCTTCAGTATAATCCACATTTGGCTGTTTTGACT AAAGAATAACTGAGTAAATTTAGGATTTTCCCCAGCGCCTTCTTGAAAAT GACTACTTGGATCATGTACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	398	0.0025	-619	c.28 others(11): Show c.2823_*3441del	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		2533		chr1	TogoVar
PDPR_chr16_70109332_70167537	70133208	CGGTTCAA others(612): Show CGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGGTGGTAGGTGGG ATTACAAGCGCCTGCCACCACTCCCGACTAATTTTTGTGTTTTTAGTAGA GACAGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTCAG GTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGTCTGGCCTTTTTTTTTTTTTGAGATAAGAGTCTTGCTCTGTCG CCCAGACTGGAGTGCAGTGGCACAATCTCGGCTCACTCCAACCTCCACCT CCTAGGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTA CAGGCATGCATCAACATGTCCAGCTAGTTTATGTATTTTTAGTAGAGACA GGATTTTACCACGTTGGCCAGGCTGGTCTTGAAATCCTGGCCTCAAGTGA TCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGAGTAAAGGTGTGAGCCACT GTGCCCAGCTCTGCTTCTTTTTTTTGTTTTTTTGTTTTTTTTTGAGATGG AGTTTCACTCTTGTTGCCCAGGCTCAAGTGCAATGGTGCGATCTCGGCTC ACCGCAACGTCTGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	288	0.0035	-619	c.997 others(16): Show c.997+939_997+1557del	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1072348	CTGGCATC others(612): Show CTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0030 a0002c0011t0002g0030	1	99	0.0101	-619	c.224 others(18): Show c.2241+666_2241+1284del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TRIM27_chr6_28898002_28928985	28927018	GGAGGTTG others(612): Show GGAGGTTGCGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAGAGTATTAATAAAATATACTTTTTT TTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACCGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCCC GGCTAATTTTTTGTATTTTTTTTAGTAGAGACAGGGTTTCACCGTGTTAG CCAGGATGGTCTCAATTCCCTGACATCGTGATCCGCCCTCCTCGGGCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATATA CTGTTTTAGGGACAGGCACAGTGGCTCACGCCTATAAACCCACTCTGGGA GGCTGAGGCGGGCGGATGACCTGAGGTCAGGAGTTTGAGACTAGCCTGGC CAACATGGGAAGCCCCGTCCCTACTAAAAATACAAAAATTATCCACGCAT GGTGTCGCATGCCTATAACCTCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGCTTGAACCTGGGAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	408	0.0025	-619	c.-40 others(11): Show c.-4005_-3387del	TRIM27	ENSG00000204713.11	transcript	ENST00000377199.4	protein_coding		3034		chr6	TogoVar
ARHGAP44_chr17_12784498_12996643	12825454	GAGAGATT others(611): Show GAGAGATTGATTGATTTTAAGGAGTTGGCTCATGTGGTTGTGGGGATTGT TAAGCTTGAAATCTGCCGGGCGAGTGGCAGGCTGGAGACCCAAGGGAGAG TTGACGTTGCTGTCTCAAATCTGAAGTCTCTTTTTCTGGGGGACCTCAGT CTTTTCTCTTAGGGTTTCCAACTGATTTGATGAGGCCCACCCACATTATT GAGGGTAATCAAGTTACTCAAAGTCTACTGATTTAAATGTTACTTACATC TAAAAAATAATTCACAGTGAGATCTAGACTGGTATTTTACCAGTTACTGG GTACTATAGCTAGCCAAGTTGACACAAAAAAATTAAACATCACAGGGACC ATGTCTGTGTTAGCCCATTATTATATCCTCAGTGTCTGCCACAATGTATG ACATGTAGAAGGCAGTCAGTAAACATTGATTGTATGGATTTGAGAGCGTT AACTTTCTACTTTCCACCTGTAGCCAATGCCAGTGAGTGTTGTACATTTC ATGGCTATAAGGACTGTTCTTTGGAGTAGTCCTTTGTGTTCGTTCTAAAA TATTTTGTTGATAAACAGTTTTGTGATTTAAGAGAGATCTCTAATTTTTG ACAAGTTTGGGTTTTTTTA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	228	0.0044	-618	c.53+ others(17): Show c.53+35565_53+36182del	ARHGAP44	ENSG00000006740.18	transcript	ENST00000379672.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
DLGAP2_chr8_732628_1713476	1406251	TGTCCTCC others(611): Show TGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTC CTCCAGAGTCGTGTATTGAGTGCTACTGAGCGCACCACAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGC CACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCT CGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	39	0.0256	-618	c.107 others(19): Show c.107-95091_107-94474del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565272	GGGGTGAC others(611): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	271	0.0037	-618	c.641 others(15): Show c.641-736_641-119del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
NKD2_chr5_1003802_1043943	1022549	GTCTCAGC others(611): Show GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCT GTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGT CCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCTGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01978.hp2 others(9): Show HG01496.hp1 HG01515.hp1 HG01978.hp2 HG02004.hp2 HG02622.hp1 HG02735.hp1 HG03834.hp1 NA18747.hp2 NA18951.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0026 a0001c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0126 a0001c0001t0001g0190 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0006g0272 a0001c0001t0012g0119 a0001c0001t0026g0021 a0001c0010t0001g0187	12	301	0.0399	-618	c.142 others(17): Show c.142-9600_142-8983del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
RYR1_chr19_38428691_38592564	38540230	TTTAGGAG others(611): Show TTTAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCAAGACAA GTCTGGGCAACATAAGGAGACCCTGTCTCTACCAAAAAAAAAAAAAATCA TATACTACAGTATAATAAACCTCCAATCATATACTACAGTATAATAAACC TCCAATCATATACTACAGTATAATAAACCTCCAATCATATACTACAGTAT AATAAACCTCCAATCATATACTACAGTATAATAAACCTCCAATCATATAC TACAGTATAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAA TCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAA ATCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAG TGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATA TACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTC CAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAA TAAACCTCCAATCATATACTAAAGTGTAATAAACCTCCAATCATATACTA CAGTGTAATAAACCTCCAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0105 a0001c0098t0001g0105	1	213	0.0047	-618	c.116 others(21): Show c.11689+2272_11690-2498del	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMOC2_chr6_168436184_168672992	168594443	CTCCGAGC others(611): Show CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGG ATCTCTGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTA GAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCT AGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATC TTTCTAGAGGATTGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGG CATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGG GCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACG AGCATCTTTCTAGAGGATG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	116	0.0086	-618	c.638 others(17): Show c.638-4374_638-3757del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
ADCY3_chr2_24814169_24925237	24829669	GCCTTGGC others(610): Show GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCG GCACCGTGTGCTCCAATTGTTAAAGTACAACAATAACATTATATTTGAAA AAAAAGGAAGATAGTGTATATGGTACTACCACAATTAGAGGAGGCCGTGA CAACTGACAAGAGAACACTGATGACAGCTCCAGGCATGTAGTGCTCAATA CGTGCCCAGTGGTTCTAAACCAATAGATCTGGGCTCCCAACTCCTGTCCC TTTTCCCCAAGAAAGCATTTGGCTGCCCCCTCAGGGAGGAAGAATACACA GGACTGGGACTTAGAACTGCCTCCATTCTGGACTCTGTCACTTCCTGGCT GTGTGACCTAGAGCAAGTGAATTACCTTTTTTTTTTTTTTTTGAGACGGA GTCTTGCTGTCGCCTAGGCTGGAGTGCAGCGGCTCAATCTCGGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAG TAGCTGGGATTACAGGTGTGCACCACCATGCCTGGCTAATTTTTGTATTT TTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCT GACCTCGTGATCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02258.hp1 others(5): Show HG01257.hp1 HG01258.hp2 HG02258.hp1 HG02258.hp2 HG03239.hp2 HG04228.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0001c0021 others(1): Show a0001c0004 a0001c0010 a0001c0021 a0002c0007	a0001c0004t0005 a0001c0004t0008 a0001c0010t0008 others(2): Show a0001c0004t0005 a0001c0004t0008 a0001c0010t0008 a0001c0021t0005 a0002c0007t0005	a0001c0004t0005g0048 a0001c0004t0008g0223 a0001c0004t0008g0230 others(5): Show a0001c0004t0005g0048 a0001c0004t0008g0223 a0001c0004t0008g0230 a0001c0010t0008g0248 a0001c0010t0008g0249 a0001c0021t0005g0109 a0002c0007t0005g0152 a0002c0007t0005g0206	8	270	0.0296	-617	c.217 others(18): Show c.2172+423_2172+1039del	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	13/21			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1430492	CGGTCTGG others(610): Show CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	355	0.0028	-617	c.92- others(15): Show c.92-5474_92-4858del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431747	TCAGCAGT others(610): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0183 a0002c0002t0008g0183	1	301	0.0033	-617	c.92- others(15): Show c.92-4270_92-3654del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DCBLD1_chr6_117477674_117554797	117480589	TTCTTAAC others(610): Show TTCTTAACTAGAGATTTTACATTTCAAGGAAGGAATGGCATGATGAAATC AATAGGATCTGGCTGGTCTTTCTGTTTCTTCATTGTTACCAGATCCTAAA TCTTTCCCCTTATCTGGCTCAGGATTCAGGTGTACAGCAGATAATTCCAT TCCCATCAAGGTACTGACTGAAGTTAAAAAAAAAAAAAAGTCACCCCTGA AAGCCCACCTGCCTCACATTATGAATTCCTCACTGTTAAACAATACTCCC CATTGTCTTTGCTTCATTCATAGCTCACAGTGTCAAACCTGTTGGAGCCT GGAAGCAGCTGCCCAAACTCACTTAGAAAGAATGAAGAGAAATAAGAAAA AGCGAAAACTGAAGTTAGGAGGAGACTCAACGTATCAAAGTATCGTTCTG TGTTTTTGAGTGTAAGAATACTCAATATTTTTATGGGTGTGAATTTACTT TCTGTTAAAAAATGATAAAACCTACCGTTTATTAGGTACTTTCTCTACAT GCTAGAACCCAATATACACATTCAGTTAGGTACTTTCTCTACATGATAGA ACTTAATATACAAATTCAGTATACACTGAATATACACATATATACCCAGT TTGATTCTGGACCTCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	368	0.0027	-617	c.-21 others(11): Show c.-2192_-1576del	DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding		2084		chr6	TogoVar
HOMER3_chr19_18924203_18946217	18935820	AACCAGCC others(610): Show AACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAA ATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCTAGTACTTGGGAGGCT GAGGCAGGAGAATTGCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGA GATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCTCA AAATAAATAGATAAGGCCATGTGTGGTGGCTCACGCTTGTAATCCCAGCA CTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGAGCAG GCTGACCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAATCAGCC AGGCATGGTGGCACATGACTGTAATCCCAGCTACTTGGGAGGCTGAGGAA GGAGAATTGCTTGAACCGGGGAGGCGGAAGTTGCGGTGAGCCGAGATCGC ACCATTGCACTCCAGCCTGGGGGACAAGAGTGAAACTCTGTCTCAAAAAA ATAAATAAATAAATAAATAAATAAATGATTTTTTAGGCTGGGTGCAGTGG CTCACACCTGTAATCCCATCACTTTGGGAGCCTGAGGCAGGCGGATTACC TGAAGTCAGGAGTTTGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01255.hp1 others(13): Show HG00280.hp1 HG01099.hp1 HG01255.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02293.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03669.hp2 HG03834.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0051	16	410	0.0390	-617	c.303 others(17): Show c.303+1916_304-1411del	HOMER3	ENSG00000051128.19	transcript	ENST00000392351.8	protein_coding	4/9			chr19	TogoVar
IFT46_chr11_118539543_118570931	118547983	TGATCCGC others(610): Show TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCACGCCCAGCCTTTTTTTTTTTTTTTTTTAATAGAGAAGAGTCTCTTA TTGTTGCCCAGGCTGGTCCTGAACTCCTGGCCTCAAATGATCATCCCACC TCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGTGCCTGGCC CAGTTTCCTTTTCTTATTAATATATAAGAGCTCTTTGCTTGGACGGTAAT TTTTTCTATTACATACATATATAAAATATTTTTTCTCAGACTGCCACTGT CTTTTAACTTTGTTTATGGTGTCTATTGGTATGTAGAACCTTTCATTTCT ATGAGTTTAAACTGTCACATTTTCTCCATTACGACTTTTTTTTTTTTTTT TTGGACAGAGTCTCACTCTGTCATGAGGCTGGAATACAGTGGCGCGATCT TGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGGCTCA GTCTTCCGAGTAGCTGGGACTACAGGCGTGCATCACCATGCCTGGCTAAT TTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGATGGTC TTGATCTCTTGACCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0231 a0002c0002t0001g0192 a0002c0002t0001g0231	2	378	0.0053	-617	c.673 others(17): Show c.673-2747_673-2131del	IFT46	ENSG00000118096.10	transcript	ENST00000264021.8	protein_coding	9/11			chr11	TogoVar
IL3RA_chrX_1331785_1387689	1365787	AGCGGGGT others(610): Show AGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCG GGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGC GCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGG GTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCG CGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGG TGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGC GGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGC GCGGGGTGAGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	110	0.0091	-617	c.874 others(16): Show c.874+547_874+1163del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
NKD2_chr5_1003802_1043943	1025988	GCTAGTGG others(610): Show GCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGC CCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTC CCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCTGCT AGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCGGTCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCGGCCCATTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTTTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCATCTGCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCATTGT CCCTGCTCTTCCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp1 HG02897.hp2 others(1): Show HG01175.hp1 HG02148.hp1 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0040 a0001c0001t0001g0215 a0001c0001t0003g0106 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0215 a0001c0001t0003g0106 a0001c0001t0012g0119	4	316	0.0127	-617	c.142 others(17): Show c.142-6161_142-5545del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU6F2_chr7_38972909_39473601	39347667	TGTCACCC others(610): Show TGTCACCCAGGCTGGCATACAGTGGCACAAACACAGCTCACTGCAGCCTC GACCTCCCAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCCGAGCGTCTGG GACTACAGGCATGTACCATCACGCCTGGCTAATTTTTGTATTTTTTGTAG AGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCA AGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTATAGGTGTCAG CCACTGTGCCCAGCCCATCAATATTATTATTAAGAATGAAGAATTTTTTT ATTATACTTGATATAGGATAAAGATGCCATCACAAATTAATAGGGAAATA ACATATTGTGTAGTAGTCAATAGTTGGGAAAATTGGTGTACAGATATTAG GCTGGGAGAAGACAGTTGTTACATCTAAAACTTTCAATATATGAACTATA CATAATAAACTCTTGAGAAAACAACAAAAACAAACAAAAAAGAACCAAGA ATTATTTTTTCCTTGTAAATTCCCAAAGTTGTGGTTTTTAGTATTTGGGT AAAGAAGAAGAATCTTGATGATCTCACTTCTGCCAATAACTAGATCGCTA ATTAGTGACCATGGGCAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01070.hp2 others(11): Show HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01361.hp1 HG01516.hp1 HG02148.hp2 HG02293.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18984.hp2 NA19030.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0011 others(1): Show a0001c0001 a0001c0002 a0006c0011 a0009c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0002t0001 a0006c0011t0001 a0009c0015t0001	a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0119 others(11): Show a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0119 a0001c0001t0003g0029 a0001c0001t0009g0123 a0001c0001t0022g0077 a0001c0002t0001g0084 a0001c0002t0001g0102 a0001c0002t0001g0111 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0154 a0006c0011t0001g0160 a0009c0015t0001g0026	14	168	0.0833	-617	c.972 others(17): Show c.972+7659_972+8275del	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
SELENOI_chr2_26341143_26400885	26370447	ACCCCTCA others(610): Show ACCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACG TCCCAGTAGGGGCCACCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCTGGGCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACGTCCCAGTAGGGGCCACCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACACCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	332	0.0030	-617	c.311 others(17): Show c.311-2890_311-2274del	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF836_chr19_52149107_52176621	52163513	GCCTGTAA others(610): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTC AAGAGATCGAAACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGA AAATTCAAGATGAGATTTGGGTGGAGACACAACCAAAGCCTATCAACTGG TTTCTGTCTTGCCTGAATATAATCACTGAAAGGAACAGGATGAAAGGTTA GGGGCCACTGAGAAAAAAGAAGATTGACATAAACCAGTGTGTGCAGTAAC ACGGAAAGACACTAGGTAAGATCTAGTACCATAGGTGACTGCAGCACCAG AGTCTTCAATAGCGCAGACAGGTAACAGGGGAGCTTCTGAGTAGAAACCA GCAAACCTCTTCAATTAGGAGATGACAAGCAAAGGCTCAGAGAGGACACA ATCCCCAGTCAGAAAATTATAATTGTGTGTGTGTTGTTGTTGTTTTAGAT GGATCGTTCTACTGAACTCCAGCCTGGGCAATAGAGTGAAACCCTGCCAC AAAAGAAGGAAAAGAAAAAGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGA AGAACAAGAAAGAAGGAAAGAAAAAGTGAGAAAGAAAGAGAGTAATGGCC GGGTGCAGTGGCTCACGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	468	0.0021	-617	c.16- others(15): Show c.16-3539_16-2923del	ZNF836	ENSG00000196267.14	transcript	ENST00000682614.1	protein_coding	3/4			chr19	TogoVar
ABR_chr17_998519_1184981	1052361	GGAGGGTT others(609): Show GGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGG TTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTGCCGGAAGGGGCTGGGG GAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGG TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCC GGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGG GGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCAGGAAGGGGCTGG GGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGG GGTCACAGGGTCAGAGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0238 a0001c0001t0011g0238	1	336	0.0030	-616	c.156 others(19): Show c.1562-2343_1562-1728del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288683	CCGTGTCC others(609): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	291	0.0034	-616	c.42 others(11): Show c.4265_*4880del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3707		chr1	TogoVar
COL23A1_chr5_178232618_178595393	178395951	TGTCCTCC others(609): Show TGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCC GGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCT TGGTTCCGGCCCCGGCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	236	0.0042	-616	c.362 others(19): Show c.362-89648_362-89033del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
DIRAS1_chr19_2709567_2726372	2713679	CACCCTTC others(609): Show CACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACA CCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCC TCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACC CTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCAC ACCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATC CCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCAC TTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTA CACCCACCACCTTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02698.hp2 others(2): Show HG00280.hp1 HG00323.hp2 HG02698.hp2 HG03927.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	5	410	0.0122	-616	c.29 others(11): Show c.2915_*3530del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		887		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713688	TCCCATCC others(609): Show TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCC ATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCCT CACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACAC CCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02129.hp2 NA18944.hp1 others(3): Show HG02083.hp1 HG02129.hp2 NA18944.hp1 NA18950.hp1 NA18957.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	273	0.0220	-616	c.29 others(11): Show c.2906_*3521del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		878		chr19	TogoVar
DPH7_chr9_137549444_137583925	137566874	TGTCTGTG others(609): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 NA19240.hp2 HG02922.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0134 a0001c0001t0001g0251 a0001c0001t0001g0252	3	331	0.0091	-616	c.641 others(17): Show c.641-2336_641-1721del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241806918	TCCCCCCT others(609): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	278	0.0036	-616	c.27 others(11): Show c.2753_*3368del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2632		chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(609): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02055.hp1 others(12): Show HG01081.hp1 HG01243.hp2 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02896.hp1 HG03041.hp1 HG06807.hp1 NA18940.hp2 NA18973.hp1 NA18975.hp1 NA19060.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0006t0001g0158 a0002c0005t0001g0090	15	138	0.1087	-616	c.141 others(21): Show c.1416+10164_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(609): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	283	0.0035	-616	c.-23 others(11): Show c.-2359_-1744del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2274		chr2	TogoVar
SAMD11_chr1_918923_949574	934077	GCGTTACA others(609): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGG TGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGT TACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 HG01358.hp2 HG01943.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0062 a0001c0004t0001g0063	2	329	0.0061	-616	c.843 others(17): Show c.843-1680_843-1065del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291843	TCCGTGTC others(609): Show TCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCC CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCT CCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGT CCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCC ATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCC CATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	279	0.0036	-616	c.121 others(16): Show c.1214+40_1214+655del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ATP11A_chr13_112685038_112892168	112785938	GTTCAGAC others(608): Show GTTCAGACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACC CACGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGG TAATGCGGAACGCACGTGCCTGCGTTCAGACTCCATTTATCCTCACCGTC CTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACA TGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACACACGTGCCTGCATTC ATACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACG CACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAAT GCGGAACGCACGTGCCTGCGTTCAGACTCCGTTTATCTTCACCGTCCTTC AAAATGGATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGG GTAAACTGTGCTTTCCAGGTAATGCGGAACGCACGTGCCTGCGTTCAGAC TCCGTTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCAGGCACA CGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGG AACGCACGTGCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02647.hp2 others(9): Show HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0029 a0004c0015	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(4): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0004t0044 a0001c0006t0004 a0001c0029t0053 a0004c0015t0002	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(9): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0044g0057 a0001c0006t0004g0036 a0001c0006t0004g0115 a0001c0029t0053g0046 a0004c0015t0002g0052	12	245	0.0490	-615	c.162 others(16): Show c.162+692_162+1306del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112785949	ATTTATCT others(608): Show ATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGC GTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAAC GCACGTGCCTGCGTTCAGACTCCATTTATCCTCACCGTCCTTCAAAATGG ATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACT GTGCTTTCCAGGTAATGCGGAACACACGTGCCTGCATTCATACTCCATTT ATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGG ACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCAC GTGCCTGCGTTCAGACTCCGTTTATCTTCACCGTCCTTCAAAATGGATGA GCTAAACCCACGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGC TTTCCAGGTAATGCGGAACGCACGTGCCTGCGTTCAGACTCCGTTTATCT TCACCGTCCTTCAAAATGGATGAGCTAAACCCAGGCACACGCGTGGACGG GCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCACGTGC CTGCATTCAGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0045 a0001c0014t0003 a0001c0014t0045	a0001c0014t0003g0178 a0001c0014t0045g0056 a0001c0014t0003g0178 a0001c0014t0045g0056	2	147	0.0136	-615	c.162 others(16): Show c.162+733_162+1347del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
IDI1_chr10_1034419_1054119	1046984	TCTACACC others(608): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTTTGTCTACACCACA CAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	436	0.0023	-615	c.140 others(17): Show c.140+1265_140+1879del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ITGAD_chr16_31388335_31431505	31390790	TGGAAAAC others(608): Show TGGAAAACAAAAAATTTTGCTGAGACAAGCGATAATACGAGTTAGGGAAA GTTGGAGAATTTTATAGTTGCTGATATCAGCAAATCGTGAGTTTCAAGCA CTACTTACAGAAGGAAGTCCAAAATTAAAGGGGATATAGAAATGTGTAAA AGATGAGGTGTGGTGAAGATGGAGAAAATGAAGAGCTCTTTAAATTTCTG AATTATGAAGAATCACCAACAAATTATTTTGTGGTTCCAAATACAGGGAG AAGTTCACAGATCCACAGAACTGATGACAGGGTGCGGCCAGCCACAAACC TTTCAGCACAAGAGGGAGAAGGCTGCCGCTCCACTTTGCCTGGGCAGTCT TTGTAAGGCAGTAGATAAGTCAGCCTCGAAGTTAGCAATCACAGCCCTCG GCTCGGTTTCCTGCAAGGGCATCGTTAATGCATCACAATTAATTTCTTCT GTCCATTAAATGTCAGCTCTCAAGTAAATTGATGTAAAATTTTTGTATAG AAAACTATTTCATATTATTTGCACTTGATGTTTAATTACATTTTAAATGT TTTGTTTGTTTCATTTTGTTTTGTTTTTGAGACAGAGTCTTGCTCTGTTG CCCACGCTGGAATGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	374	0.0027	-615	c.-25 others(11): Show c.-2570_-1956del	ITGAD	ENSG00000156886.12	transcript	ENST00000389202.3	protein_coding		2544		chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(608): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTT GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCAC TGTCATGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18941.hp1 NA18993.hp1 others(6): Show HG02135.hp2 NA18941.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19082.hp1 NA19091.hp2	a0001 a0007 a0039 others(1): Show a0001 a0007 a0039 a0055	a0001c0002 a0001c0003 a0001c0024 others(4): Show a0001c0002 a0001c0003 a0001c0024 a0001c0137 a0007c0010 a0039c0046 a0055c0112	a0001c0002t0001 a0001c0003t0001 a0001c0024t0002 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0024t0002 a0001c0137t0002 a0007c0010t0001 a0039c0046t0001 a0039c0046t0002 a0055c0112t0001	a0001c0002t0001g0383 a0001c0003t0001g0199 a0001c0003t0001g0372 others(6): Show a0001c0002t0001g0383 a0001c0003t0001g0199 a0001c0003t0001g0372 a0001c0024t0002g0025 a0001c0137t0002g0299 a0007c0010t0001g0100 a0039c0046t0001g0198 a0039c0046t0002g0197 a0055c0112t0001g0246	9	365	0.0247	-615	c.164 others(17): Show c.1644+223_1644+837del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NTN5_chr19_48656407_48678017	48669040	TCACCACC others(608): Show TCACCACCACCATCACCATCACCACCACCACCACTATCACCATCATCACC ACCACCATCACCACTATCACCATCATCACCACCACCACCATCATCATATC ACCATCATCACCACCATCACCACCACCACCATCACCACCATGACCACCAT CATCACCACCATCACCATCACCACCACCACCACCACGACCATCATCACCA CCACCACCATCACCACCACCACGACCATCATCACCACCACCACCATCACC ACCACCATCACCACCACCACCATCACCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCA CCATCACCACCACCACCATCACCACCACCATCACCACCATCACCACCACC ACCACCATCACCACCATGACCACCATCATCACCACCATCACCACCATCAC CATCACCACCACCACGACCATCATCACCACCACCACCATCACCACCACCA TCACCACCACCACCATCACCACCACCATCACCACCATCACCACCACGACC ACCATCACCACCACCACCATCATCACCACCATCACCACCACCAGTCATCA CCATCACCACCACCAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG03209.hp2 others(4): Show HG02257.hp1 HG02258.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0015 a0001c0002t0002g0095 a0001c0002t0002g0096	7	409	0.0171	-615	c.631 others(16): Show c.631+701_631+1315del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NWD2_chr4_37239743_37454463	37330765	CCATCACC others(608): Show CCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCC TACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGT ATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATA CAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCAC CAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCAT CACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACT TGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTT CTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAAT ACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGA ATCATCACCCTACTTGAGTATTTCTATACAATACCACCGGAATCATCACC CTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAG TATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTAT ACAATACCACCAGAAT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0210 a0001c0004t0001g0210	1	294	0.0034	-615	c.240 others(17): Show c.240+4951_240+5565del	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCA_chr17_66297613_66815743	66798674	ATGGTGGT others(608): Show ATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0099 a0001c0002t0050g0099	1	119	0.0084	-615	c.185 others(19): Show c.1855-5184_1855-4570del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RGPD4_chr2_107821892_107897544	107828133	GGCCTCGA others(608): Show GGCCTCGATGGCTCAGGCATCATGGTTCCCGACGGGCGCTGCTCCCTGGC GCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCG ACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGG GCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCG GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGCTCC CTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC AGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGC GGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGGC GCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCG ACCTGGCCCGGCGGCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0196 a0006c0007t0005g0196	1	321	0.0031	-615	c.72+ others(15): Show c.72+1073_72+1687del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
S1PR4_chr19_3173769_3185332	3175171	CTCATGGG others(608): Show CTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACA CCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCACGGGACGCCTG TGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGC CCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGCGTTCTCATGGGACG CCTGCATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTCA TGGGACACCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGGATGCCTGT ACCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTCATGGG ACGCCTGTACCCCTCATGGGACATCTGTGCTCTCATGGGATGCCTGTGCC CCTCATGGGATGCCTGTGCCCTCATGGGACGCCTGCATTCTCATGGGACA CCTGTGCCCTCATGGGATGCCTGTACCCTCATGGGACGCCTGTGCCCCTC ATGGGATGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02486.hp1 others(19): Show HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0001c0014t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0011t0001g0000 a0001c0014t0001g0000	22	416	0.0529	-615	c.-36 others(11): Show c.-3621_-3007del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3597		chr19	TogoVar
SGTA_chr19_2749715_2788273	2773156	AGGGACTC others(608): Show AGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCAC ACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTG GGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCG GCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGG CAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACAC CGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAG AGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTG ACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18967.hp1 HG02135.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	2	393	0.0051	-615	c.-23 others(17): Show c.-23-4680_-23-4066del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1071000	GAGCCCCC others(608): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0028 a0001c0006t0001g0028	1	115	0.0087	-615	c.224 others(19): Show c.2241+2018_2241+2632del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TCF3_chr19_1604292_1657615	1628356	CAGGGGGT others(608): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0094 a0001c0004t0094	a0001c0004t0094g0340 a0001c0004t0094g0340	1	238	0.0042	-615	c.299 others(16): Show c.299-1545_299-931del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TNR_chr1_175310194_175748595	175442391	TCCTAGGG others(608): Show TCCTAGGGTCATGCCTGAGGAGAGGGTGGAAGATCTGGAGAGAGATGGCT TGAAGCATTTATGTTCAATCCTAGGGCTCTGAAATTATATTGACTGGATT ATTGGAAGATTGAGAGTGAGAAGGTGGTCTCAAGGCCAACTCAGACACAA ACAGAGATTGCATTTGGAAGCCCCAAACCATGACTAGAGGTGTTGTCTGT TGAGATAGATGCACACAGAGCAACCAGAGAGAAGAGTAGAATGTTTCCCC TGCATCTGCCCTGGCATGCTTCAGCCATTAGCTCTTCTCTTTCCAAGCAT TAAAGTATAATAAATAGGAAAAGTCTTGTCAACTGCCCGAGACCATATTT ATTCAAATCAGCCAGAATGGGTTTCTCAAAGCAAACGTCAACATATCAGA AAGGTGCAAGTGATCTAGGAGAACGTAGTCTTGAGACAACTCCAAAACAG GTTGTCACACTCAAAGACAGTTGATATATTTCCAGGCTCCACAAATTTAC CTATATTGTATACCTTGTTGTAAAATACCCATACTTTTCCAAGTGTTCAG TGCTATTTTGGTCTTAGAAGGCTGTAATAAGTGTGAAATGGGTTGTAAAG ATAGTAACATATTCAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA21309.hp1 HG02723.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0027 a0001c0003t0004 a0001c0002t0027 a0001c0003t0004	a0001c0002t0027g0002 a0001c0003t0004g0132 a0001c0002t0027g0002 a0001c0003t0004g0132	2	130	0.0154	-615	c.-63 others(19): Show c.-63-36229_-63-35615del	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar

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