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
VAV2_chr9_133756894_133997324	133827562	CGCCCACT others(521): Show CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTG CCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCT GACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCAC TGAGTGGGGGCATCGCCAGCTACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 NA19065.hp2 HG00408.hp1 HG02040.hp1 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0018 a0002c0001t0001 a0002c0001t0004 a0002c0001t0018	a0002c0001t0001g0022 a0002c0001t0004g0142 a0002c0001t0018g0200 a0002c0001t0001g0022 a0002c0001t0004g0142 a0002c0001t0018g0200	3	161	0.0186	-528	c.449 others(17): Show c.449+6182_449+6709del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827610	TGCCCACT others(521): Show TGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGG CTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03942.hp1 HG03834.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0071 a0001c0002t0002g0173 a0001c0002t0001g0071 a0001c0002t0002g0173	2	161	0.0124	-528	c.449 others(17): Show c.449+6134_449+6661del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827692	GCCAGCTA others(521): Show GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0082 a0001c0007t0003g0082	1	189	0.0053	-528	c.449 others(17): Show c.449+6052_449+6579del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827696	GCTACCGC others(521): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGC TGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCA CTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACT GAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGA GGCTGACCACTGAGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0163 a0002c0001t0001g0163	1	178	0.0056	-528	c.449 others(17): Show c.449+6048_449+6575del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827888	GCTACTGC others(521): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGC TGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTG CCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0079 a0002c0011t0004g0079	1	180	0.0056	-528	c.449 others(17): Show c.449+5856_449+6383del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZCCHC2_chr18_62518025_62583579	62580517	TGCTGTGG others(521): Show TGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGT GGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGG CCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGT GGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCC CTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCG AGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGG TGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCAC AGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCT GTGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAA GGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAG GTGGACCCCTCCCGAGACGGTGTCACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02922.hp2 HG03579.hp1 HG01081.hp2 HG02922.hp2 HG03579.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0019 a0003c0014t0030 a0003c0014t0019 a0003c0014t0030	a0003c0014t0019g0086 a0003c0014t0019g0087 a0003c0014t0030g0088 a0003c0014t0019g0086 a0003c0014t0019g0087 a0003c0014t0030g0088	3	264	0.0114	-528	c.39 others(11): Show c.3939_*4466del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		1939		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62580882	CAGGTGGA others(521): Show CAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTG GACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCC TCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGA GACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGT GTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTG TGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAG GCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGG TGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACC CCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCC GAGACGGTGTCACAGTGCTGTGGAAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG06807.hp2 NA20300.hp2 HG03041.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0030 a0001c0003 a0001c0030	a0001c0003t0003 a0001c0030t0003 a0001c0003t0003 a0001c0030t0003	a0001c0003t0003g0043 a0001c0003t0003g0275 a0001c0030t0003g0276 a0001c0003t0003g0043 a0001c0003t0003g0275 a0001c0030t0003g0276	3	310	0.0097	-528	c.43 others(11): Show c.4304_*4831del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2304		chr18	TogoVar
DLGAP2_chr8_732628_1713476	1641911	GCCGGCCC others(520): Show GCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTC ACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCTGGTC CTCACCTGTGTCACCCTCGACCCTGCCGGCCCCCACCTGTGTCACCCTCG ACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCT GTGTCACCCTCGACCCTGCCGGTCCTCACCTGTGTCACCCTCGACCCCGC CGGTCCCCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCAC CCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCT CACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGAC CCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGT GTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCG GTCCTCACCTGTGTCACCCTCGACCCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG01891.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0014 a0003c0005t0002 a0001c0003t0014 a0003c0005t0002	a0001c0003t0014g0020 a0003c0005t0002g0030 a0001c0003t0014g0020 a0003c0005t0002g0030	2	40	0.0500	-527	c.181 others(19): Show c.1810+8870_1810+9396del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241806539	CCCCTCAG others(520): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	289	0.0035	-527	c.23 others(11): Show c.2374_*2900del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2253		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233022	TCCCTAGT others(520): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC CTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGGGTGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0074 a0001c0014t0003g0074	1	170	0.0059	-527	c.107 others(21): Show c.1077+14361_1077+14887del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79885976	AACATAGG others(520): Show AACATAGGGACGTGGGGACAGGAACATGGGGACACAAGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0187	1	305	0.0033	-527	c.625 others(19): Show c.625-13059_625-12533del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LUC7L_chr16_183990_234449	186740	GACACGGG others(520): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAATACCAACACGGGAGGAACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG06807.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0203 a0001c0001t0001g0213	2	348	0.0057	-527	c.19 others(11): Show c.1931_*2457del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2249		chr16	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(520): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	292	0.0034	-527	c.-27 others(11): Show c.-2738_-2212del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2653		chr2	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(520): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG02132.hp1 others(10): Show HG00609.hp2 HG00673.hp2 HG02132.hp1 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03453.hp2 HG04115.hp2 NA18960.hp1 NA19007.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0029 a0001c0003t0003 a0001c0003t0006 a0001c0004t0026	a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0138 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0138 a0001c0001t0002g0082 a0001c0002t0001g0047 a0001c0002t0001g0097 a0001c0002t0001g0112 a0001c0002t0002g0023 a0001c0002t0002g0127 a0001c0002t0029g0125 a0001c0003t0003g0008 a0001c0003t0006g0012 a0001c0004t0026g0013	13	145	0.0897	-527	c.178 others(19): Show c.178-26385_178-25859del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(520): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTACCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	310	0.0032	-527	c.915 others(17): Show c.915+1094_915+1620del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(520): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	296	0.0034	-527	c.915 others(17): Show c.915+1199_915+1725del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(520): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18984.hp1 HG03834.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0284 a0001c0001t0001g0290	2	232	0.0086	-527	c.915 others(17): Show c.915+1352_915+1878del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091505	CGCGCCTA others(520): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	300	0.0033	-527	c.915 others(17): Show c.915+1879_915+2405del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(520): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01168.hp2 others(19): Show HG00438.hp1 HG01081.hp2 HG01168.hp2 HG01361.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02738.hp2 HG02895.hp2 HG03130.hp1 HG03540.hp2 HG03831.hp2 HG04199.hp2 NA18747.hp1 NA18946.hp1 NA18951.hp1 NA18980.hp1 NA18984.hp2 NA19003.hp1 NA19083.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0024 a0003c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0306 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0005g0056 a0001c0001t0008g0263 a0001c0001t0019g0197 a0001c0001t0024g0140 a0003c0007t0001g0296	22	247	0.0891	-527	c.915 others(17): Show c.915+2995_915+3521del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092652	AGCGCCTA others(520): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0097 a0001c0002t0020g0097	1	251	0.0040	-527	c.915 others(17): Show c.915+3046_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092891	TAACCGCA others(520): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAG AGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACC TAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	301	0.0033	-527	c.915 others(17): Show c.915+3243_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092900	CGCGCCTA others(520): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG02055.hp1 others(2): Show HG01167.hp1 HG01433.hp2 HG02055.hp1 HG02723.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0104 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0001g0180	5	330	0.0152	-527	c.915 others(17): Show c.915+3274_915+3800del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093055	CGCGCCTA others(520): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	328	0.0030	-527	c.915 others(17): Show c.915+3553_915+4079del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
ROBO2_chr3_77035099_77654964	77293378	GGCTAGAT others(520): Show GGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGC TGAGGCTAGATCACTAAAGACATAAAGTAAAATTGACGGTTAAATGGGTA AGCTGAGGCTAGATCACCCCAGACATAAAGTAGAATTGATGTTTAAATGG GTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTAAAATTGACGGGTAAA CGGGTAAGCTGAGGCTAGATCACCCCAGACACAAAGTAAAATTGACGGTT AAACGGGTAAGCTGAGGCTAGATCACCCAGACATAAAGTAAAATTGATGG TTAAATGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGAT GGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATT GATGGTTAAACGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAGAA TTGATGGTTAAACGGGTAGGCTGAGGCTAGATCACCCCAGATGTAAAGTA AAATTGACGGCTAAACGAGTAAGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG03139.hp1 others(5): Show HG02486.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0009c0011	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0024 a0001c0002t0019 a0001c0006t0001 a0009c0011t0005	a0001c0001t0002g0002 a0001c0001t0005g0051 a0001c0001t0015g0012 others(5): Show a0001c0001t0002g0002 a0001c0001t0005g0051 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0024g0001 a0001c0002t0019g0111 a0001c0006t0001g0005 a0009c0011t0005g0107	8	160	0.0500	-527	c.389 others(21): Show c.389-183972_389-183446del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCUBE1_chr22_43192280_43348372	43280953	TCCCTCTT others(520): Show TCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACC TCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCC CTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCA CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCC TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA TCTCCCTCAGCCACCCTCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0040 a0002c0002t0040g0040	1	273	0.0037	-527	c.484 others(18): Show c.484+9566_484+10092del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
CACNG7_chr19_53904278_53948950	53919538	TCTGGTCA others(519): Show TCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCC AGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCC CCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTT GCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGA GTTGCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGG ACTTGCCCCAGGCCCGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATT GGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGT ATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCC TGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAG GCTGGTCATTGGTGGACTTGCCCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	364	0.0027	-526	c.424 others(17): Show c.424+4075_424+4600del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1033864	CACGGTGT others(519): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA20129.hp1 HG00733.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0076 a0001c0002t0004g0009 a0001c0002t0004g0076	2	277	0.0072	-526	c.390 others(17): Show c.390+1205_391-1704del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GANC_chr15_42268201_42358666	42350281	CGGCCTCC others(519): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTCCGCCCATCTC CCCGACTTTCTAAAAAATGAAAAAGGACTTAATTTAAGTTCCCACTAATT CCATTCATTCATCCATTCACCAGCTCACTAAATATCTGATTTATTACAAT TTGATTATAATATCCAAGTCACATTTGTAACTTTTGTGTTCTTCAGTTAT TTTTCAAATAACTTGTTAAAAAGAGCCTGATTTGGCCACCAGTTAGCTGT TCCTTGGTACACAGAGTTGTCTTTTTTTTTTTTTTTTTTGAGACGGAGTT TTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTG CAACCTCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGATGCCCACCACCATGCCTGGCTAATTTTTTGTATT TTTTTAGTAGAGACGGGGTTTCGTCATGTTGGGCAGGCTGGTCTCGAACT CCTGACCTCAAGTGATCCGCCCACGTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 NA19240.hp2 HG02109.hp2 HG02647.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185	3	260	0.0115	-526	c.253 others(17): Show c.2531+815_2532-494del	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
LMF1_chr16_848634_975984	960364	CACAGACT others(519): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAACACTGGATCACAACCCA GACACCATCTCATGGTGACAACACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAACAC GGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAACACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0268 a0001c0022t0001g0268	1	284	0.0035	-526	c.194 others(17): Show c.194-6224_194-5699del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	961490	CACAGACT others(519): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACCACCCAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0032 a0004c0027t0001g0032	1	287	0.0035	-526	c.194 others(17): Show c.194-7350_194-6825del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
MED26_chr19_16569919_16633204	16609563	TTCTTTTC others(519): Show TTCTTTTCTTTTTCCTGAGAGCTGGTTGTCAAATTTTCACCAGCACACCA CTGTCTATACCTTAGTATATGCCTTATGTAAATTAGAGCTTCATTATTTT GAAGTGCTTGAAATAGAGTCTGAATGAAACTAAAGTCCATTTGCATTATT GTATTTCAACATTACATATAAATGAAAAGATTAAAGAATCTGGATTTTTT AGAAATGCCAACTCATAAATTTTTCAATGTTTACTAAAAAAAATGCTTCC AAGTTTTATCACCTTCTTGTGCAAACAAAATTTCTCCACAACAATTATCA AAGTCAAGCAAAACAGAAACAAAAACAAAACCCACACCCTAACATATAAA AGTTATGTTCTTGGACACAAGCACTCTTTAAAAAAAAAAAAAAAAAAAAA AAAAGGCAATGTTATTTCAGTAATGTTATTCAAGCCGGGTGTGGTCGCTC ACACATGTAACCCCAACCCTTTGGGATGCCAAGGCGGCCAGGAGTTCAAG ACCAGCCTGGGCAACACAGCGAGACCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0077 a0001c0005t0003g0077	1	266	0.0038	-526	c.72+ others(17): Show c.72+17783_72+18308del	MED26	ENSG00000105085.11	transcript	ENST00000263390.8	protein_coding	1/2			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085752	CCCCCACA others(519): Show CCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGT GGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGC GTGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0113 a0009c0012t0002g0113	1	385	0.0026	-526	c.164 others(17): Show c.1644+369_1644+894del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241806518	GACCTCCG others(519): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0163 a0002c0003t0002g0163	1	295	0.0034	-526	c.-27 others(11): Show c.-2759_-2234del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2674		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149649	TGCCGCCG others(519): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	290	0.0034	-526	c.901 others(15): Show c.901+761_902-800del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKAA1_chr5_40754389_40803374	40800483	CGTCCGGG others(519): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTATCCAGGAGATGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCTGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTA TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCTCGGCCAGCCGCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp2 HG02818.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076	6	400	0.0150	-526	c.-28 others(11): Show c.-2820_-2295del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2110		chr5	TogoVar
ADGRB3_chr6_68630282_69394506	68761303	CATATTTA others(518): Show CATATTTATATAAATGACCTAAACTTCTTTATTTGTCCCTTTCTTTTGAC TCACCTAGGTTTTCAGTTGGTAACTCCTTGCAGGCAGTCTCAGGCGTGAC TAGTTAATTCCATGGTGCTACTTTGAACCTAAATTAGGCTTCTACAGTTA CTACATATTTCTTTGTATGTGTCAGTGTAGCACAGGTTGTGCTTTGGTGT CCTCTGCAGGCTTGTTCAGTGTCGATGTGGTGCTTGCTTGGTTGACTTCA GTGAGTGCACAGAGTATTATGCTGCTACGTTCCAAAATATGCAGGCGCCA GACATGTATTTTCTCTTTTATTATATAGGCTGTAGGTGATGTTACATAAA CCTGTTTTCTCATGCCCCGTTTCTTTAGATTCTGCTTTTTTGTTGTTGTT GTTTCAAACTTGTTTGTCCTCTGATCAAGTCTAAGGTTTTTAAACAGGAC AATGCAAATATGTTTTACTATTAGGTTTTCTACTCATCATTACACTGTGT TCAAAAATGGTAATTGAAAATGGAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp2 NA20129.hp1 HG02809.hp1 HG03225.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0004c0008t0001 a0001c0001t0001 a0001c0001t0003 a0004c0008t0001	a0001c0001t0001g0107 a0001c0001t0003g0061 a0004c0008t0001g0092 a0001c0001t0001g0107 a0001c0001t0003g0061 a0004c0008t0001g0092	3	118	0.0254	-525	c.757 others(21): Show c.757+121874_757+122398del	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
C4orf19_chr4_37448925_37598510	37571639	ACCATTCT others(518): Show ACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAAATGCCCGC CACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTC AGCCTCCCAAATTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGG CCAGACTGGTCTCGAACTTCTGACCTCAAGCGATCCTCCCACCTCGGCCT CCCAAAGTGCTGGGATTACTGACGTGAGCCGCCACACACAGCCATATAGG GAATATCTTAATAACATGGATTTCCTGGAGGTGTCAAGTCCCAGCCCAGG TTGTGACAGGCAGAGTAAGAACTGACCTTAGATTCACACGTTTGTTTTTA ACTTCACACCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0324 a0001c0001t0010g0324	1	352	0.0028	-525	c.-23 others(19): Show c.-23+13604_-23+14128del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CSMD1_chr8_2930361_4999914	4461061	TGTGTCCA others(518): Show TGTGTCCAAGTGCTATTTATCTCAGGAATGCAAGATAGGCTTAGCATCTG AAAATCTAACACTGTGCCATAACAATAAAATAAAGTCAGCTGATTGTCTT ACCAGATAAAAAGTGACAAAATTCAACATTCTTTGATGATAAAAACAATT AACTAGCAATGGGGAATTTCTTCAACCTGATAAAAGTCACCTGCGAAAAG CCTACAGTTAACATTGTATTTAATGAAATATTGAACATTTTCTGCCTAAA ATCAGCAATAAGACAAATTCTATTCCACAGCATACTGGAGGTTTTAGCTA GGGCAGTGATGCAGGAAATTTAAAGGCATAAAGATAGGTAAAGAAGATAA AAATATAACTATTTACAAATCACATGATCTAGTATACAGAACATCTTAGA TATCCATTAAAAACTATTAGAATTTAAGAACATCTCCAGCAAGGTTACAG AGTAGAAGATGAATATGCAAAAATCCATATTTTTTTTTGGTGGGTGGGGG TGGGGTGTTGGGGGATACATCATCCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19240.hp1 HG06807.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0085 a0002c0035 a0001c0085 a0002c0035	a0001c0085t0020 a0002c0035t0047 a0001c0085t0020 a0002c0035t0047	a0001c0085t0020g0060 a0002c0035t0047g0076 a0001c0085t0020g0060 a0002c0035t0047g0076	2	126	0.0159	-525	c.303 others(19): Show c.303-41521_303-40997del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
DDX51_chr12_132131594_132149319	132135713	CGAGTGTG others(518): Show CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	331	0.0030	-525	c.30 others(11): Show c.3034_*3558del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		880		chr12	TogoVar
DGKB_chr7_14140049_14907751	14878863	ATCCATTG others(518): Show ATCCATTGCAAATCTTGCATATGTTTTAGCATATAGGCTATAGGTTACAA GATCTGCCGGCCATTCTACTTCATATCAAAAGTCATCAATATCTATTTAA ACATCACTACCAAAATAAATTTTATAGCTCTATAAATTGTTATATTTTGG TGCTCAAAAACACATGCTTTTATGTTATAGTAAATTAAATACTCATGGTC TTGTTACTAGACAGAGGAAAATGTCACACAGATCCTTGATATATTTGTTT TAGCAAAGAACTAATGTATATCAAGACAATGATTCACAGATTAAGGTAAA GTAGTTCTTCTCAAATAATGACAAATAAAAATAATCTACTTTAGTGTATT TCAAAATATTCATGACCTGAGGTATAGAATATTCTGTTTAGATTCCTGAT TTGTCTATGTTAGGGAGCCCAGTCTATCTAAAAAAATATTTAATATGGTA AACTTCCATGCTTTGCATTCAGTAAATGAATGCGGTCAGGATCAGTTGTA TCATTTGAACGACTGTTTCTATCACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG02109.hp2 others(1): Show HG00639.hp2 HG01081.hp1 HG02109.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0001c0012	a0001c0002t0003 a0001c0003t0015 a0001c0009t0009 others(1): Show a0001c0002t0003 a0001c0003t0015 a0001c0009t0009 a0001c0012t0003	a0001c0002t0003g0010 a0001c0003t0015g0086 a0001c0009t0009g0126 others(1): Show a0001c0002t0003g0010 a0001c0003t0015g0086 a0001c0009t0009g0126 a0001c0012t0003g0015	4	146	0.0274	-525	c.-18 others(21): Show c.-188+23204_-188+23728del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
FGF12_chr3_192134390_192732541	192377958	AAAAAATG others(518): Show AAAAAATGTCTTTTCTGGTATTACGCATTGATCAAAATTAGACGAGATCC CTTTCTTCTGACTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCT TCTTTCTCTCTTTGTTTTTTTTTCTCAGTGTCTCACTCTGTCGGCCAGGC TGGAGTGTAGTGGTGAGATCACAGCTCACTGCAGCTTCGAACTCCTGAGC TCAGGAGATTCTCCCGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCGT GTGCTATCATGCCTAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTTT GCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCATGCCATCCACCC ACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTG GTCTCCTCTAACTATTAAAATAGCTTTCCCAAAAATGCAAAGATATAGAC ACAACTACTTTTGTAACTGGAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02559.hp2 others(6): Show HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0041	a0001c0001t0002g0044 a0001c0001t0003g0073 a0001c0001t0013g0015 others(6): Show a0001c0001t0002g0044 a0001c0001t0003g0073 a0001c0001t0013g0015 a0001c0001t0015g0008 a0001c0001t0016g0060 a0001c0001t0020g0054 a0001c0001t0022g0016 a0001c0001t0032g0079 a0001c0001t0041g0045	9	90	0.1000	-525	c.14- others(17): Show c.14-17945_14-17421del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FOXN3_chr14_89151177_89422233	89361945	ACTACCAC others(518): Show ACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCA CCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCACC ACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCAC CACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCA CCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACC TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTC CAGCACCAGCTCCACCACCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0162 a0001c0001t0015g0162	1	222	0.0045	-525	c.544 others(19): Show c.544-11662_544-11138del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132234653	TCCCTAGT others(518): Show TCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGTGACAGGGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 HG01167.hp1 HG03453.hp1	a0001 a0001	a0001c0014 a0001c0029 a0001c0014 a0001c0029	a0001c0014t0003 a0001c0029t0003 a0001c0014t0003 a0001c0029t0003	a0001c0014t0003g0153 a0001c0029t0003g0107 a0001c0014t0003g0153 a0001c0029t0003g0107	2	172	0.0116	-525	c.107 others(21): Show c.1077+12732_1077+13256del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
LMNB2_chr19_2423166_2461959	2433244	ATCACCCC others(518): Show ATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCATTC CGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGCCCCGTCACCCTGA CCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCAGT CATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGACAGCCCCGTCAC CCTGACCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCC CCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGACGGCCCC GTCACCCTGACCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCC ATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCG GCCCCGTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTA CCCCCATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGC CGGCAGCCCCGTCACCCTGACCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19012.hp2 HG02040.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0175 a0001c0001t0001g0153 a0001c0001t0001g0175	2	348	0.0057	-525	c.148 others(16): Show c.1482+57_1482+581del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148916	CACACCAC others(518): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	-525	c.901 others(14): Show c.901+22_901+546del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NXPH1_chr7_8428609_8757961	8506966	GTGACATG others(518): Show GTGACATGATCAGATTTGCATGTCAAGTGCCCACCCCGGGAAGATGAAAG GGGAGTAGGATGAGGGCAGAGGTCATCAGAAAGCCAAATGGGAAGCTATG CAACAGTTCAGGTGAGAGACAATGGGCTAAGGTAGTTGTGGCAGACCTGG AGAGAGGTGGGTGCAGAAGAAGCAGATTTAAGGGATGAAATTGATTGGGT TTAGCTATGGGTTATATTTGGGGGTGGCGTGGGGAGAAGGAAGTGTCTGA ATGACTATTAGATTTCTGACTTACATAATTGAATAGGTGGTTGTTAATAC ATTAGGGCATGGAACACAAAGATGAAGAATTTGAAGGTGAAGGGGTAGAT CATGAGTGAAACAGAAGCAAAGCATTTACACCAGTGTTTGACATAACCAG GGATAGCCACTATGATGATGGTGATAATTTTAAGATGTCATTGAAGCATC CTAGTGAACATCTTAAGCTGTAATGAGCTATACTATTATTATCATTACTT TGGTCATAAAACTTGGCAAGCAATAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0207 a0001c0001t0001g0044 a0001c0001t0001g0207	2	208	0.0096	-525	c.54+ others(17): Show c.54+71201_54+71725del	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
SFI1_chr22_31491536_31623588	31541874	GGGCGGAT others(518): Show GGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGT ACCTGTAGTCCCAGCTACTCCGGAGGCTGAGGAAGGAGACTGGCGTGAAC CTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGC CTGGGTGACAGAGTGAGACCCCGTCTTTAAAAAAAAAAAAAAAAAAAGAA ATGTACAGTTTAGGAGCCAGTCTCCTATAATCTCTCCCCCACCCCCCGAG AGAGAACCACTGGCATTAGTTTGATATTCTGGAGTCTTTTCAGGCTTTTA ATGTGTATGATGTAATCATTTATGTATGCATACACACATGCTTGTTTATA TGTACACAAATGTGTGTGTGTGTGTATATTTGATGTATTCCAACATATGG GTGCTATAAATACATAAAAATAGGCCGGGCATGGTGGCACATACCTGTAA TCCCAGCACTTTGGGAGGCCACGGCA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	320	0.0031	-525	c.339 others(17): Show c.339-4976_339-4452del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
THADA_chr2_43225851_43601038	43431630	TAATTTTT others(518): Show TAATTTTTTGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGAT AATTTTTTGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00738.hp2 others(57): Show HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0005 others(11): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0020 a0021 a0023 a0024	a0001c0001 a0001c0006 a0001c0027 others(19): Show a0001c0001 a0001c0006 a0001c0027 a0002c0003 a0002c0009 a0005c0004 a0006c0005 a0006c0015 a0007c0007 a0007c0014 a0008c0033 a0009c0012 a0010c0013 a0010c0037 a0011c0017 a0011c0028 a0011c0032 a0014c0026 a0020c0021 a0021c0019 a0023c0022 a0024c0038	a0001c0001t0001 a0001c0006t0001 a0001c0027t0003 others(19): Show a0001c0001t0001 a0001c0006t0001 a0001c0027t0003 a0002c0003t0001 a0002c0009t0001 a0005c0004t0001 a0006c0005t0001 a0006c0015t0001 a0007c0007t0002 a0007c0014t0002 a0008c0033t0001 a0009c0012t0001 a0010c0013t0001 a0010c0037t0001 a0011c0017t0001 a0011c0028t0001 a0011c0032t0001 a0014c0026t0003 a0020c0021t0001 a0021c0019t0001 a0023c0022t0001 a0024c0038t0001	a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0117 others(57): Show a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0006t0001g0077 a0001c0006t0001g0115 a0001c0006t0001g0116 a0001c0006t0001g0157 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0160 a0001c0027t0003g0001 a0002c0003t0001g0143 a0002c0009t0001g0030 a0005c0004t0001g0033 a0005c0004t0001g0034 a0005c0004t0001g0035 a0005c0004t0001g0036 a0005c0004t0001g0037 a0005c0004t0001g0038 a0005c0004t0001g0040 a0005c0004t0001g0041 a0005c0004t0001g0042 a0006c0005t0001g0019 a0006c0005t0001g0020 a0006c0005t0001g0026 a0006c0005t0001g0027 a0006c0005t0001g0028 a0006c0005t0001g0166 a0006c0005t0001g0167 a0006c0015t0001g0067 a0006c0015t0001g0068 a0006c0015t0001g0111 a0007c0007t0002g0003 a0007c0007t0002g0004 a0007c0007t0002g0005 a0007c0007t0002g0006 a0007c0007t0002g0010 a0007c0007t0002g0011 a0007c0014t0002g0007 a0007c0014t0002g0008 a0007c0014t0002g0009 a0008c0033t0001g0125 a0009c0012t0001g0015 a0009c0012t0001g0016 a0009c0012t0001g0017 a0009c0012t0001g0018 a0010c0013t0001g0013 a0010c0013t0001g0022 a0010c0013t0001g0032 a0010c0037t0001g0066 a0011c0017t0001g0012 a0011c0017t0001g0061 a0011c0028t0001g0049 a0011c0032t0001g0122 a0014c0026t0003g0002 a0020c0021t0001g0031 a0021c0019t0001g0029 a0023c0022t0001g0014 a0024c0038t0001g0064	60	204	0.2941	-525	c.383 others(19): Show c.3837-1853_3837-1329del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37			chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129855373	GTAACGGA others(518): Show GTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTT GTTACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	79	0.0127	-525	c.79+ others(17): Show c.79+47363_79+47887del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235624	CGTGGGCC others(518): Show CGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTC CACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGATGGTGGGCCAAGCCTCCACTCCAGTCTCTGATGGACGGTGGGCCAA GTCTCCACTCCAGCCTCTGATGGACAGTGGGCCAAGTCTCCACTCCAGCC TCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGG GCCAAGCCTCCATTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTC CAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGAC GGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTC CACTCCAACCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGA TGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAA GCCTCCACTCCAGCCTCTGATGGACG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	228	0.0044	-525	c.-12 others(21): Show c.-127-10976_-127-10452del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar

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