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
BRSK2_chr11_1384934_1467689	1430118	GTCTGGTC others(935): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA20752.hp1 HG03834.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0002 a0001c0001t0024 a0002c0002t0002	a0001c0001t0024g0302 a0002c0002t0002g0118 a0001c0001t0024g0302 a0002c0002t0002g0118	2	345	0.0058	-942	c.92- others(15): Show c.92-5921_92-4980del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
DPH7_chr9_137549444_137583925	137565657	GTGACTCT others(935): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGG GTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGC TCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGG AAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19089.hp1 NA18990.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	329	0.0061	-942	c.641 others(16): Show c.641-1445_641-504del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
KCNIP4_chr4_20723606_21953772	21455821	ATATATAT others(935): Show ATATATATATATATATATATATATATATATATATATGGACTTAGATACAA TTGTGTATGCTTAACAGTTAGGATTTTCCGTATTAGGCTCAGAGAGAATT GGCTAAGTTGAACATTTAGTAAGTGGAAATCTTTGACACTGCAGATTAAA CTCAAATATTTTAATTCTATATCTAGTCCTCCTTCCATCGTATTTCTCCA TCAAACTTTTTAATGCCTCATTATCTGTTGCTTAATACGAAGAGAAGAAA ACCCACCCCATTTTTATATCTGCAATAATGGCTGAAGAATTTCTTCTATG TCTTCTCTGGGCAAAGCATTTGCTGAGCACTTGATATGGTATTACCTTCA AAGAAACTCTGCCAGTTACAGGGACATTAAGTAATTTCCCCAAATCCATA CAGCAAAAATAAGGGCAGAGCAAGCCATCTGCCCTGAAATTCCTTGCCCT TTCCAGTTCACCAAATTGCATCTTTGAAGTCGGATCAAGATTTGCGTACA TATCCTACCAGTCTAAGCACGTTTGAATGATGGCACATTGTCTCACTATA TTGAGGCAACTCTTCCTTGCTTGGCTGTTACTCATAATTAGGAATACAGT TACATCTTTCACTTTGGTCCAATTTTTATCATATCAATGTACTACCCACC TATATATTTTCTTAATTTATATTTCTTTAAATCAACTTATTTTTTATGTC TGGCCCTAGTAATTATATCCATAAAGTCCAAGACGTAGTGAACTTATTTC ATAATTTATAAGATGAATTACAATAAATATGTAAACATTTTAAAATGCAT GTCTTAAGGAAATGTTTGAATCAACATCTAAGAAAAATTGGTTTGCCCAG TAAGTCGCGTATTTGTGGGGTCAGCTAGCCTGATCCAGCCTTTACAGCTC CATGTAGATTTGCTCTTCTTGACTATTGCTGGGTGGTCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02145.hp1 others(4): Show HG01433.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0001t0001 a0001c0002t0001 a0001c0003t0003	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0003t0003g0029	7	76	0.0921	-942	c.61+ others(19): Show c.61+491808_61+492749del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
NKD2_chr5_1003802_1043943	1023406	TGTGGGCG others(935): Show TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCG TTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCA GCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCG CTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCG TCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCC ATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	204	0.0049	-942	c.142 others(17): Show c.142-8745_142-7804del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
THBS2_chr6_169210785_169258846	169233562	ACCACACA others(935): Show ACCACACAACTACCCATGCGTCACTTTCCACACCACACAAATACCTACGT GCCATGTTCCAGACCACACAGCTGCCCACGCACCACCTTCCACAACACAC AACTACACCCCAGGTGCCACACCACACAACTACCTATGTGCCACGTTCCA GACCACACAACTACCCACACGCCACCTTCCACACTACACAACTACCTACA CACCATGTTCCAGACCACACAACTACCATGTGCCACATTCCAGACCACAC AACTGCCCACACACCACCTTCCACAACACACAACTGCCCACACGTCAGGT GCTATACCACACAACTACCTACATGCCACATTCTAGACCACACAACTACC CATGTACCATGTTCCAGACCATACAACTGCCCACGCACCACCTTCTACAA CACATAACTACATGCAAGGTGACACACCACACTACTACCTACATGCCACG TTCCAGACCACACAACTACCATGTGTCACATTTCACACCACACCGCTGCC CATGCACCATGTTCCACACCGCACAACTACCTACACACCATGTTTCACAA CACACAGCTACTCACATGCCACGTTTCACACTACACAACTACATATTCCA GACCACACAACCACCCAGATGCCACAGTCCACACCACACAACCACCCAGA TGCCACAGTCCACACCATGCAACTACCCACACACCATGTTCCATACCACA CAACTATCTACATGCTATGTTCCCAGCCACACAACTACCCACATGCCACA GGCCACACCACACAACTACCCACACACCACATTCCACACCACACAACTAC CCACACTCCACATTCCATGCCACACAACTACCCACACACCACATACCATG CCACACAACTGCCCACATTCCACAGGCCACGCCACACAACTACCCACATT CCACAGGCCACACCACACAATTACCCACACACCACATTCCACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02683.hp1 others(5): Show HG02055.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02970.hp1 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0016 others(2): Show a0001c0003 a0001c0004 a0001c0016 a0001c0044 a0001c0045	a0001c0003t0002 a0001c0004t0003 a0001c0016t0003 others(2): Show a0001c0003t0002 a0001c0004t0003 a0001c0016t0003 a0001c0044t0003 a0001c0045t0003	a0001c0003t0002g0068 a0001c0003t0002g0192 a0001c0004t0003g0066 others(5): Show a0001c0003t0002g0068 a0001c0003t0002g0192 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0016t0003g0146 a0001c0016t0003g0199 a0001c0044t0003g0059 a0001c0045t0003g0147	8	394	0.0203	-942	c.165 others(17): Show c.1651+230_1652-546del	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	10/21			chr6	TogoVar
LPIN2_chr18_2911999_3018144	2963311	CAGCCTGC others(934): Show CAGCCTGCTCTTGAAGCAGAATCTAGTGCCATATACCTTATTCCTACATG CTAGCCCAGCATAGCTACACAATAAGAACCAAGTCAGACCTGTCCTGGTC AACACCTGGGAAAGCCACACTCTGAACCAGCAGCAGAAAAGATACACAAT GATGTAACCCAAATGTTTAAAAAATATAGCAAAATAACACACTATAAACT ATTCCTCCTATTTTATCATGAATGATGAGGGAAAATGTGGGAGGACAAAA TAAATAATGGAGAGTGACAGAGACCAAAGGAGAGCCATGCAGAAAGAAAC AAACAAGAAGTCACAGAGAAAAAAGAGCAAAAGCAAAGACAGAATATTTA ACCAGAAAGGCAGGCTCATTTGGAGATGCCCACACAAAAAGCAAAATGTG GAAATGAAAAATGGTCACAGAGCAGCATCCCTATCTTGAGGCTTACGGGC ATAAATAAAAATATTAAAGTGCACTTGCTGATTCTTGGAACAAGAAGAAT ACATCCAGCCCATTCTTTTAACAAATACCAAAAATGCTTCTAACACATCT CTGAAATACTCTAACAATAATCACACTGGAAACAACTCTTTTTTTGAAAG CTCGTAACATCCCAAATTCTTAAACTTATACATTATTATCTCAGAACTAC TTTAGAGGTGGTATTATTTCTATTTTTAAAGACAATTAAGGCTGGGTGTA GTGGCTCACGCCTGTAATCCCAGCACTCTGAGAGGCTGAGGCAAGCAGAT CACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACACGGTGAAGGCCC GTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCGTGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGG AAGCGGAGGGTGCAGTGAGCCGAGATCACACCACTGCACTCA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0093 a0001c0018t0093	a0001c0018t0093g0160 a0001c0018t0093g0160	1	378	0.0026	-941	c.-9- others(15): Show c.-9-3403_-9-2463del	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	1/19			chr18	TogoVar
PKP3_chr11_389209_409908	401770	GCCCCGCT others(934): Show GCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCC CCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCC CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCC CGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCG CTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0194 a0001c0008t0001g0194	1	149	0.0067	-941	c.173 others(18): Show c.1737+1066_1738-367del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
RASA3_chr13_113972783_114137623	114006537	GCCACCTT others(934): Show GCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGACGCCACCTTACCC TTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCT GCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGC CACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTT CTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGC CCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCA CCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCT CCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTG CCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACC TTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCC ACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTG CCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTT ACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCC TCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGG ACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGCCCCCCTCCTGCC CTGCCGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCTCCTGCCCTGCTGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGC CGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0025 a0001c0001t0001g0051	2	55	0.0364	-941	c.174 others(16): Show c.1742+55_1742+995del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SIGIRR_chr11_400716_419999	401770	GCCCCGCT others(934): Show GCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCC CCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCC CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGG CCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCC GCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCC CGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCG CTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	170	0.0059	-941	c.31 others(11): Show c.3185_*4125del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3945		chr11	TogoVar
FOXQ1_chr6_1307098_1319758	1318797	CGCGGTGG others(933): Show CGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGC CTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCG GGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG GTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGA AACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTT AGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTA AAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACT AGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAG CCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGG AGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03942.hp1 HG03491.hp2 HG03942.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0003 a0001c0001t0002 a0003c0002t0003	a0001c0001t0002g0000 a0003c0002t0003g0000 a0001c0001t0002g0000 a0003c0002t0003g0000	2	404	0.0050	-940	c.48 others(11): Show c.4882_*5821del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4040		chr6	TogoVar
KCNIP4_chr4_20723606_21953772	21455823	ATATATAT others(933): Show ATATATATATATATATATATATATATATATATATGGACTTAGATACAATT GTGTATGCTTAACAGTTAGGATTTTCCGTATTAGGCTCAGAGAGAATTGG CTAAGTTGAACATTTAGTAAGTGGAAATCTTTGACACTGCAGATTAAACT CAAATATTTTAATTCTATATCTAGTCCTCCTTCCATCGTATTTCTCCATC AAACTTTTTAATGCCTCATTATCTGTTGCTTAATACGAAGAGAAGAAAAC CCACCCCATTTTTATATCTGCAATAATGGCTGAAGAATTTCTTCTATGTC TTCTCTGGGCAAAGCATTTGCTGAGCACTTGATATGGTATTACCTTCAAA GAAACTCTGCCAGTTACAGGGACATTAAGTAATTTCCCCAAATCCATACA GCAAAAATAAGGGCAGAGCAAGCCATCTGCCCTGAAATTCCTTGCCCTTT CCAGTTCACCAAATTGCATCTTTGAAGTCGGATCAAGATTTGCGTACATA TCCTACCAGTCTAAGCACGTTTGAATGATGGCACATTGTCTCACTATATT GAGGCAACTCTTCCTTGCTTGGCTGTTACTCATAATTAGGAATACAGTTA CATCTTTCACTTTGGTCCAATTTTTATCATATCAATGTACTACCCACCTA TATATTTTCTTAATTTATATTTCTTTAAATCAACTTATTTTTTATGTCTG GCCCTAGTAATTATATCCATAAAGTCCAAGACGTAGTGAACTTATTTCAT AATTTATAAGATGAATTACAATAAATATGTAAACATTTTAAAATGCATGT CTTAAGGAAATGTTTGAATCAACATCTAAGAAAAATTGGTTTGCCCAGTA AGTCGCGTATTTGTGGGGTCAGCTAGCCTGATCCAGCCTTTACAGCTCCA TGTAGATTTGCTCTTCTTGACTATTGCTGGGTGGTCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 HG01243.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0030 a0001c0001t0012g0045 a0001c0001t0003g0030 a0001c0001t0012g0045	2	79	0.0253	-940	c.61+ others(19): Show c.61+491808_61+492747del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1235661	CCCCTCTC others(932): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGC CCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACC ATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTAT CTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCA TACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTG TGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACC AGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATC CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGC AGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCAT TTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	103	0.0097	-939	c.136 others(19): Show c.1362-2755_1362-1817del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235669	CCTCCCGG others(932): Show CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCC TGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAA GAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTT TTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTAC ACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCAC AGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTA AAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGG TGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATG ACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTG CCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCAC CTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCT TCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTC ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTA CTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGC CTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGA AGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAAC GAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	102	0.0098	-939	c.136 others(19): Show c.1362-2763_1362-1825del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARIH2_chr3_48913842_48991382	48920354	GATTAAAA others(932): Show GATTAAAAATTAAATTTTCATTTAAATGTGCACCTAGAACATTTAGTATG AAATGGAGTTCTCTCTCTTTTTTTTTTGGAGGAGCCTGGAGTTTTCCCCA CCTAAATATTTGGTTGGTGAGAAGCCTGTGAGCAATTTCTTTTTTTTTTT TTTTTTTTGACACGGAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGG TGCAGTCTCGGTTCACTGCAGCCTCCATCTCCCAGATCAAGCAGTTCTGC CTTAGCCTCCCGAGTAGCTGGGATTACAGCTGGGATTACACCCAGGCTGG TTGGAGGGCAGTGGCGTGATCATGGCTCGCTGCAATCTCCTGGACTCAAA TAATCCTCCTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCAAGACTCTCAAAAAAAAAAAAAAAGAA AGAAAAGAAAAGAAATATTGTCCCCTTGGAACAAGATCAGCACTTTTTCT TTCTTTCATTTATTTATTTTTATTTTTGAGTCCCGCTCTGTCTCTCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGT TCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGC ATGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTC ATCATGTTGATTAGGCTGGTCTCGAACTCTTGACCTTGTGATCTGCCACC TTAGCCTCCCAAAGTGTTGGGATCACAGGCGTGAGCCACCGTGCCCGGCC CACTTTTTCAAGTAGAATTTGGGTATTTAACTTTGAGATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00544.hp1 others(111): Show HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19003.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0006	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(111): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0075 a0001c0001t0005g0019 a0001c0001t0005g0093 a0001c0001t0007g0038 a0001c0001t0008g0059 a0001c0001t0009g0029 a0001c0001t0011g0053 a0001c0001t0012g0193 a0001c0001t0013g0098 a0001c0001t0014g0046 a0001c0001t0015g0076 a0002c0002t0006g0064 a0002c0002t0006g0068	114	200	0.5700	-939	c.-16 others(19): Show c.-162+1383_-161-1429del	ARIH2	ENSG00000177479.20	transcript	ENST00000356401.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ELMO1_chr7_36847906_37453864	37146982	CACCACTT others(932): Show CACCACTTCAATTCTGCAGCTTTTTTCCCCTTTAGGTTCAAAAGGTCTTT GGTGACTAGGAATATGGGGTCCATTAGCAAGAAGAAATTTAATCAGAGAA ATGTGAAGTCCCATAAAAAAGAGTTTTAGAAATTCAAGCACATGTCTAGA GATTAAGGGAAATCTGGCTCATGAATAATTCATGATATCCCAGCTCCTCA TCATTAAAATTTGATTCTTTAAGGTGAGGCACAAAGGTGCCTCATGAAAG AAACACCCAGGAAGATGCTAGGGATCTAGGCCAATAGATTCTAAGCCCCC TGGATTCCCCAGTGTACCTCCCTCTCTGATGGACATCCTCTTCTCTTTGC CTGGCCTCCTTAACACTTCCGCTCATCTCTCTCATTCCATTCACCCACCT GCTACCTCCTGGTCCCAGCCTTGGCTCTGTTTCTCTGGGCTGGACAACTC CACAACTTTACCCCTGGTGTGATACCCCAGGTTCAATGAAGCTCTAAGAC CACCTCCAAGTGTCACTAAGGGAATATCCTCCCTGAAAATGTTCTGAAAC CAAGCAGAGTCCATGACCGTTCAATTTATCAACTAAGAGTTGGAGCTGCC AACAAGTCCAAGAGGAGTCAACTTCATGTGGCAGCCAGAAGGCTATGCCA TGTTGGGTTTTATTAATATTAGCACAACAAGAACAGAAGAGGTTCCACTG GACTGGGCCCTGCCCAGGTCACATGTGGACACGATGCACAGTCTGCAGGC CACAATGCAACCCAGTTCCTGATACACAAGAAATCGTGCACACAAGAGTG GCCAGAAAGAAGCAGATATATCAGAGGAGAGAGGCATGTCAGAAAAGTTG GAAAAAAAAAAAAAAGCCAGTTATTTAGCCCAGGAAATAAAAAGAAAGGT GTGTGAGGTGCAGTGATTAACTGAGATGGAAGTTGTACTA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	90	0.0111	-939	c.108 others(21): Show c.1087-14687_1087-13749del	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
HMGN5_chrX_81108699_81206913	81160993	TAAAATTT others(932): Show TAAAATTTCCAGAGTAGAGGATCTTCTGGGGTTAAGTGGCTCCTGCTACC CCATGTCATCCTGGATGGCATGATAATGCATCTACCCAGAAGTTTTGGTT ACCTAGTATGTGCGTGTTTGAACTTGAATTGCCCCAAGAATATTGCCCAT TGTGTGAAATATGAGCTGTGCTTCCTTACTGATCTGATGTTCCAAGTTGT GACGACTGACCCCTGGACACATGTTAATGAGTACCCTCAAAATTATTTCT ATAAATAAAGTCTTCAATCAGTGATATGGAAAAACCACAGGTAGGAGTTC TGGCCCAACTAATGGCTAGCATTTACTGCCAGATATATGAATGAATAAGC CTTCAAATGCTCCTATCCCCTAGTCTTTGAGTATTCCCAGCTGAGACCTT AGACATTTTGGAGCAAAACCAAGACATTTCTGTTATGTTCTTTCCAAATT CTAAGCCCAAAGAATCTGTAAGCATAATAAAATTGTTGTTGTTTTGTGCC TCTAAGTTTAGAATGCTTTGTTACTCAATTATTGCTAACTGAAATATAAT TTGGTACCTGTAAGTAGAGTGCTGTTATAAGAAAACCTGAAAATGTGTGG ACCAGGAAGCAGAGGAGTACGAAAGACTCTTGAAGAGAGTGATAGAAAAA AGCCTTCAGAGCCTTAAAGGGGCTGTTGGTGAGGGCTTAAAGGAAAGTAA GAAAAAATGGAAGCTCTGTGAAAGGGAGACCTTGTTCTTTAGTAGCAGAA AGTCAGCAACACCCTTCTGTGGTAACATGAAAAATAGGATACACCTAGTA AACTTGATGAACTAGCTATAGAGATGTGTAAAATACCACTTGGCTTCTTT TCACTGCATATGATAAAACGCAAAAGGAAATATACGAGCTAAAGGTTTGA CTCTTATTATAAAGAATGCAGTACTTGGTAAGTTTGAATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG03041.hp1 others(3): Show HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0003c0003t0001g0108 a0003c0003t0001g0111	6	223	0.0269	-939	c.-12 others(21): Show c.-124+39805_-123-39322del	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
KCP_chr7_128871865_128915709	128912634	TGAGGCTG others(932): Show TGAGGCTGGGGAGGCACTTTTGGGACTCAAGGGACCTTGACTTTGAAGGG GCTTCCAGGGACACTTTCGTCACCCCACTTGACGATAAGGATGTAGTCCC TTTCTCCTTGACAGTGTAGGTGACATTGTACACCCGGTTCCCCATGTGCT TCACGTACACCTCCTCACAGGGGGTCTTGGGGCCGTGCACGCCCACCATC ATCATGTTGGTGCCTGGAGAGGGAGGCAGAGGGACAGGCTCACACCAGGG AGTCCCCTACTGTGACCCACACCCTGCTCCCTGACGGCTTCTTGCTCACA CCCCGGGAGACGCCCTCCCCCCGCCACCTGCCTGCTTTGCTGCAGTCCAC GGTGAAGGAGTTCTTCTGGCCCACGAAGGCCTGGGACAGCCCAGGGCCCC GAGTCACCACCTTGCTGGCATCTGAGGAGAACTTGGGGATGGAGTTGTAG CTGGAGCCCCGGCTTGAGGAGGACTTGGTCACAGTCTCCACCAGAACCGT GGATGTTTCGTGAAGGCTGTGGCCTCCGGACAGCCTCGGACCTGAGGGGT GGGTGGAGGGGGCACAAACCTAGTCAGAAGGGCTTCCCGTTCTTCCCCAG GCAGGGGACCCTCGGCCAGCACTGCCACCCTGTGGGACTCACTGCCTGCA TTTGAGGTTCCCCCCCAAATTCCTCCAAGGGCCACTCTAGGAGCACAGCC CCATTCCCAGCCAGGGCCCTGAGCTGCCAGCTCCAATTGGTGCTCCACCC TAGGGCTGGGGCCTCAGATGCTGCGTCCCTCATCCTTGCAGGCTTTGTCT GGGAACTCAGGCTAACTCACAGGGTAAGAGCCACTTTACAAAGGAACACC CACCCAACTCATCCTACAGACAGCCTCAAGAGGGGAAGCTTGCTCAATAC CGACTGTGTCTTCTTGGAGCGGAGGAATATGGGAAGCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	370	0.0027	-939	c.-28 others(11): Show c.-2897_-1959del	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding		1926		chr7	TogoVar
TEX11_chrX_70523940_70913711	70903141	GAAGGAAC others(932): Show GAAGGAACTGCCTGAGGCCATTTTACAGTTAACTTTATTTTTTATAAATA GAAGGAGTACACTCTAAGATGATGATAAAAAAATAGTATAAGATAGCATA GTATGGTATAGTGAATACATAAACCAGTAGCATAGTCATTTATTATCACC ATCAAGTATTATGTACTGTACATAAATGTACGTGCTATAGTTTTAAACAA CTGGCAGCACAGTAGATTTGTTTACACCAGCATCACCACAAACACATGAA TAAAGCATTGCTCTACAACTTTATAACAGCTCTGACATCACTAGGGGATA GGAACTTTTCAGCTCCATTAAAATCTTCTGGGACCACTGTTGTATATGCT GTCCTTTATTGACTGAAATGTCATTATGCAGCACATGACTGTATTTTATG CTGATCATATCAAACATAGAGAATTGTGTTCTATTCTGGGTACCACACTT TAAGAAATAACACGAAAAGGATAGAGCATGTTTAAAGGATAGCACACAAA ATGATAAGGGGACTAGAAACCAGGTAATATCAGGAATGTTTGAACAAACT GAGAATGCTCAATCTGAAGACACTTTCCGGGGTACAAGATAAGTTATCTT CAAATAGTTGAAGATGACATGCAGAAAAGGAGTTACATTTATTTAGCCCC AGTGGGTGTAATTATCTAGACAAATTTCTATTCCTTCCTGGTCTTGAATT TTTTTTTTAAGACAGGATCTCACTCTGTCACCCAAGCTGGAGCAATCAAG GCTCACTGCAGGCTCCACCTCCTAGGCTCAAGCGATCCTCCCACCTCTGG CTCCTGAGACTACTACAGGCATGCAACACCACATCCAGCTTTTTTTTTTT TTTTTTTTTTTTTGGTGAAGACAGGGTCTCTGTTGCCCAGGCTGGTCTCA AACTCATGGGCTCAAGTATTCCTCCCGCCTCAGCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp2 HG02165.hp1 others(17): Show HG00621.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03490.hp1 HG03654.hp1 HG03942.hp1 HG04204.hp1 NA18955.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18989.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(17): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0225	20	227	0.0881	-939	c.37+ others(15): Show c.37+3673_37+4611del	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29			chrX	TogoVar
TMEM132D_chr12_129066726_129909025	129855925	GTGCCCTT others(932): Show GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGA GTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGG ATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03041.hp2 others(1): Show HG02145.hp1 HG02809.hp2 HG03041.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0002c0003t0001	a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0011 others(1): Show a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0011 a0002c0003t0001g0062	4	80	0.0500	-939	c.79+ others(17): Show c.79+46397_79+47335del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
KCNIP4_chr4_20723606_21953772	21455825	ATATATAT others(931): Show ATATATATATATATATATATATATATATATATGGACTTAGATACAATTGT GTATGCTTAACAGTTAGGATTTTCCGTATTAGGCTCAGAGAGAATTGGCT AAGTTGAACATTTAGTAAGTGGAAATCTTTGACACTGCAGATTAAACTCA AATATTTTAATTCTATATCTAGTCCTCCTTCCATCGTATTTCTCCATCAA ACTTTTTAATGCCTCATTATCTGTTGCTTAATACGAAGAGAAGAAAACCC ACCCCATTTTTATATCTGCAATAATGGCTGAAGAATTTCTTCTATGTCTT CTCTGGGCAAAGCATTTGCTGAGCACTTGATATGGTATTACCTTCAAAGA AACTCTGCCAGTTACAGGGACATTAAGTAATTTCCCCAAATCCATACAGC AAAAATAAGGGCAGAGCAAGCCATCTGCCCTGAAATTCCTTGCCCTTTCC AGTTCACCAAATTGCATCTTTGAAGTCGGATCAAGATTTGCGTACATATC CTACCAGTCTAAGCACGTTTGAATGATGGCACATTGTCTCACTATATTGA GGCAACTCTTCCTTGCTTGGCTGTTACTCATAATTAGGAATACAGTTACA TCTTTCACTTTGGTCCAATTTTTATCATATCAATGTACTACCCACCTATA TATTTTCTTAATTTATATTTCTTTAAATCAACTTATTTTTTATGTCTGGC CCTAGTAATTATATCCATAAAGTCCAAGACGTAGTGAACTTATTTCATAA TTTATAAGATGAATTACAATAAATATGTAAACATTTTAAAATGCATGTCT TAAGGAAATGTTTGAATCAACATCTAAGAAAAATTGGTTTGCCCAGTAAG TCGCGTATTTGTGGGGTCAGCTAGCCTGATCCAGCCTTTACAGCTCCATG TAGATTTGCTCTTCTTGACTATTGCTGGGTGGTCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 HG03579.hp1 HG02572.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0002g0063 a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0002g0063	3	70	0.0429	-938	c.61+ others(19): Show c.61+491808_61+492745del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
LARGE1_chr22_33267509_33925476	33391077	CGCCTCGG others(931): Show CGCCTCGGCCTCCCCAAGTGTTGCAATTACAGGTGTGAGCCACCGTGCCC AGCCTACCACAGGTTATTCCTATAACCAATATCCTCACATCCTCATAGGT CCTGCATTCAGAAGTCATTTCGTCTATGATTCATTTCAAAATTTTTTTAT TTGAGCACCTGCTTTGGTTCTATTCATTAGTTAACTGGGGACTTGGAAGT TTTTAAAACACAGTCCTTGTTCTCAGGGAGCAAGGCCTGATAGGGAAGGG AAACAGGTAATCACAAAAATGCAAAGCACTGTGATAAATGGGAGGTGGGG AAGAACTATGGGAGCTGGGGTACAGGTAAACTGACTGTGTCTCAGGGGAA GCATTAGGGGAAGGGCATCTTGAAATGAATGATGTCTACACTGAAACTTA AGGATAAAAAAGGTTATATAAGTGAGAGACAGGAAGAACAAAGGTCAAAC CAGACAGGCTTCTCTCTCTAGGACAGTGATTTCAAAGGAATGGGTTGCTG AATATCTAGCAGGTAGCAAATACTGTCCACCACATCTGAACTGCAGACCT CAAAAGGTAATGACCCATGTCCCCCTCTTCTCCCAAAAAAGAAAATTTTA GAAAGGCTGCATAAAGTTGTCTAGCATGGGTGAAAACATTTGTCTTTGCT CATAAATCTATAATTATCCACAGGTTATTTCCTTTTTCCTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTTGCACTGTCGCTCAGGCAGGAGTGCAA TGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCTAGCGATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCCACCACCAC ACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTACACTATGTTG GCCAGGCTGCTCTCGAACTCCTGACCTCATGATCCACCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0042 a0001c0008t0016g0042	1	108	0.0093	-938	c.893 others(17): Show c.893-7711_893-6774del	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
MYT1_chr20_64159452_64247253	64173886	CCTGCAGC others(931): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	220	0.0045	-938	c.-99 others(18): Show c.-99+9150_-99+10087del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
P2RX5_chr17_3668227_3701155	3686365	TCCCCCGC others(931): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCC AGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTG GGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA CACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	348	0.0029	-938	c.981 others(16): Show c.981+709_981+1646del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RPH3AL_chr17_207389_357807	256958	CGTGACTA others(931): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTG TCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTA GGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCT GTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	94	0.0106	-938	c.439 others(18): Show c.439-10611_439-9674del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
ZNF512_chr2_27578042_27628217	27587918	GATCTGCC others(930): Show GATCTGCCCACCTTTGCCTCCCAAAGTGCTGGGATTAACGGTGTGAGCCA CCGCGCCCAGCCTTCATCTGTTCCTATTCTTATTGGCCATTTGTGTGTCT ACTTTTGTAAAATGTTTACATTTTTGTCCATTAAAAAAAGTGGGTTATCT TATTGAATTGTGGTATTTAAAAAAATCTGTCCTGAATACAACTCGTTTGT CTGTTATACTTCCTTCCAGTCTGGTTTGTCTTTCATTTTCTTAATGATGT CTTTTGAAGAGCAAAAGGTTTAAATTTATCATTTTTTTCTTACATTTCAT GCTTTTATGTATCCTATTTAAGAAACCTTTGCCTCCCTGGAGGTCGTAGC GAGTCAAGGTGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTC CGTCTTAAGAAATAATAATAATTAAAAAAAAGAAACTTTTGCCTCCCTAA TTGCAGAGATTTTCTGTGGTCTTTTCTCCTAGAAGTTTTATAGGTTTTAT ATTTAGGTCTGTGACTCATTTAGAGTTAATTTCTGTGAATGTTTTATGGT AAGGGTCAATGTTGACTTTTTTTTCTATTTATATACCCAGTTGTTGGAAA GAGTTTTCTTTCCCTACTGAATTGCCTTGGCATCTTTGTCAAACTTCACT TGGACATGTATATGTGTAGGTCTGTTTCTGGACTCTCCTTATTCTGTTCT ACTGATGTTTATTTAGACTCTTGAAATCAGTAAGTCCTCTAACTTTAGTG TTCTTTTTCAAAATTGTTTTGGTTATTCTCAGTTCTTTGCGTTTTTATAA GAAGTATAGAATTGGGTTGCCAATATCTATTAAAAGAAGCTTGCTGAGTA TTGATTGGTATTATATTGAATCTATAGATTCCGTTGGGGAAAATTGCTAT TTTAACAATATTGAGTTTTCTGATTTATGAACATGCTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	330	0.0030	-937	c.89+ others(15): Show c.89+4203_89+5139del	ZNF512	ENSG00000243943.10	transcript	ENST00000355467.6	protein_coding	2/13			chr2	TogoVar
IFT88_chr13_20562157_20696444	20618122	ATGTTAGC others(929): Show ATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCTCGCCTT GGCCTCCCAAAGCGCTGGGATTATGGTCGTGAGCCACTGCGCCTGGCCGG ATCAAAACTTTTTTATGTAGCACATGATCGTTGTTCATTGGAATTGCCCT GGTTACTTGTTAAAAGTGCGGATAATCTGGCTCCCCACATCTTTCTCTGT AGATCTGAGTCAGGGTTCTGAGGTCTGGAGTGAGTATTTACATTTGTGTC AAGCCTCCCCAAGTGATTCTGATACCTACTATACTGTAACTCTTTACCAG TGGTATGACTGCATATTAAAATCAGGGGATTTTAAATAGTCCCAACACAC AGGCTGCGTGGTAGACTAGTTGAATCAGAATTTCTGGGTGTTGGGACAGA GGGATCAGTATTTATAAAGCCGCCTAGGGGGTTCTGTGATATAAATCCCA CATACAGCTCTATACTATGCAAATAGTTCTTGAATGCCACTGACTGAGGA GCTCATTAAAAGTAGAGATTCAGTTGGTCTTAAATGGGATAGAACATCTA TATTTTTTTAATGCTCTCCAGGTAGTTGTCATGTGTAATGGAAATTACGC ATAATTCAACTGTTCTACTGAAAAACAGAAGAGAAAACTTAGTTCTGCAA TTATTTGCAATTTTTACTATGAATTCTTCTGGCATTCTTACTATATTTCT GTTAACTTCTTTGTATATGATTAAATTATTTTTTTTTCCCTTTTTTTTTT TTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAA TCTCGGCTCACTACAAGCTCCACCTCCTGAGTCCACGCTATTCTCCTGCC TCAGCCTCCTAAGTAGCTGGGACTACAGGCGCACATTGCCACGCCCGGCC AATTTTTTGTATTTTTAGTTGAGATGGGGTTTCACCG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	306	0.0033	-936	c.119 others(19): Show c.1199+2263_1199+3198del	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
L3MBTL4_chr18_5949717_6419911	6272556	CACAGAAG others(929): Show CACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGA GCGGCGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAAATTCAACTA GGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAA ACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAG TTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGA CAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGTGGTGCCTTCAGGAG CATGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGACTGAATATAAGGA ATACAGAAGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAG AGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACT AGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTA AACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGA GTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTG ACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGA GCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGG AATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACA GAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAAC TAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATT AAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAG AGTTGTGCAAATTCAACTAGGACTGAATATAAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp2 HG02257.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0047 a0002c0002t0001g0079 a0001c0001t0002g0047 a0002c0002t0001g0079	2	41	0.0488	-936	c.128 others(17): Show c.128-9454_128-8519del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(929): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp1 HG02809.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0064 a0001c0002t0008g0047 a0001c0002t0002g0064 a0001c0002t0008g0047	2	165	0.0121	-936	c.637 others(19): Show c.637+11369_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560572	ATTCTTGG others(929): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCG	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	92	0.0109	-936	c.637 others(19): Show c.637+11369_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMYD3_chr1_245744347_246512279	245976041	AGCCTAGG others(929): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCC CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0057 a0001c0012t0002g0057	1	129	0.0078	-936	c.532 others(19): Show c.532-47040_532-46105del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1107045	GCTTGGTA others(929): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCT GTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTG CTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACG TGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACA CGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGA CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0049 a0016c0023t0001g0049	1	159	0.0063	-936	c.325 others(17): Show c.325+8744_325+9679del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VGLL4_chr3_11551069_11648915	11604262	AAGCACGG others(929): Show AAGCACGGTTTGCCTCATTTGATGGATGACGAAGCTGTGCCCCAAAACAT AGCGTGACTTACCCAAGATCCTCCAGTTAACAGGTTAGCTGGAGGCAAGA ACCCATGGCCTCTGCAATCAGACAACGCCTCATCCTAAGACTGTGCAGCC TCACACAAGGCTTACAGCAAAGGAAAAGAATCCGCACATAAGGTCAGGGA CAGGTCCGTTCAGTTATGTGCCTTTATGCATCTTTGGGGCCCCTCCCTAG ATGGCCTTAACCCAACACTTGTATGTTAGACAAGAGTGGTAACTGTTGTA TGTGTGGTGGGGTTAAAATTATTTTTGTAAAACTGAAGCAGACATTTGTT CTGGGAGATAAGACACTTGCATTGCAATCTTGACTCCTCCTTTATTTAGG ATGGGGTGAATTTGGGCACGTGCTTCCCCTCTCTGGGCCTCCCTCCATAC AACAAGGGGCTGGACTAGCTAATGTGTCATGTTCTTTCCAGCTCTTAGAA TTACTGATGCAATTCTATGATCAACAAGTGACCAACCAACTAACCAACAT TTACAAAGAAATTGCTACTTGTGTAATGGTGAACTAAGACAGCAAAACTC AAGGTATGTACCTCAGATGTTATTCATCGAAAAAAACAAGGGTGACCCTG GGGTCAAATAAATTTGGAAACCGTGAGATTGAACAACTTTTACAGGAGTT TAACTACAGGCCTTTCTGTCTTCTAATGCATCTCAGTCTCTGAGATGGAA ACCCCGCAGGGCTGCTTTCCATCGCCCGCCACGCCCCCGCCCACCCCCAA TCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACC CCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp2 others(55): Show HG00280.hp1 HG00438.hp1 HG00609.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA19005.hp1 NA19011.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0024 a0001c0002t0002 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0085 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0021g0042 a0001c0001t0024g0032 a0001c0002t0002g0002 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0007t0001g0037 a0001c0007t0001g0038	58	342	0.1696	-936	c.83- others(15): Show c.83-3176_83-2241del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(928): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	273	0.0037	-935	c.22 others(11): Show c.2229_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
ACYP2_chr2_53966113_54310300	54145505	CAAACACA others(927): Show CAAACACATACATGAATAGAGAAAAAAGGACAGTGAAGCTCATGTGCCCA TTACCCACTTTCAATAACAGTATGCTTTCAGACATTCTTGTTTCATATAT TCCTCCAACTTTTTTTTTGTCATTGTTAGAGTATTTAAAGCAAATTTCCG GCATTATATTATTCACCTGTAAATTTGGTCAAATGATATTAAACTATCAA TACTTGACAATATTTTAATCTATAAAACAACAATTTCATGTTGTTCAATC TAATGTTTGACTATATACAGAAAACAGAAACTCTATATATCCATCAATAT GTATTCCAAATCCCACACAGATCTATGTGCAAATGTCAAAGTGCATCACA CAACCTGTCTGTCATGCTTTTTCCTGGAGGCCTGTCTTCCAGTCTGGGTC TGGGTTTGCTACACAACTGTCACTCTGGTGTTGCTCTTCGCTGCTTTCCT GTAGAGCAGGCTCCTGTGTCCTTAATCATATGTTTTAATCATTCTTGATT TATTCTCTTATTTTGCAGAAACATAATTCTCTATAAGCTTCCGAAGGAAA GGTGCATGAGAGGCAAAAAGTTTGCATCTCTGCATGCCTTCATTTACCCT TGTGCTTGACTGATTGACTTACAAAATTCTATGCCAAAAATAATCTCACA CTAAGAATTTTGAAGGCATAGTTCCATAACTTACAGTGTTGCTGTTGAGA GGTTTGATGTCATTCGAATACAAAGGATTGGGAGTTATACCTGTTTATTC CCTCAGAAAGTTTGTCAGATATTCCACTTATCTCTCTTCTCCATTTTCAC AACCATCTGCCTTTGTGCATGTTTTAATTTTGCTGTAAATGCACTTGGAG GAGAATGTTTTTTCTTTGACAATTTCCTTCCCTATCTCTTTTGGACCCTC TTCTTTTAGAACTTCTGTATGGACCTGATCCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	270	0.0037	-934	c.404 others(17): Show c.404+6758_404+7691del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6			chr2	TogoVar
DNAH12_chr3_57288700_57549344	57305407	CTATAATC others(927): Show CTATAATCTTTTTATCACCTCCCCTCCTCACACCCGGTCCAGCTTACAGT TTCATTCCGCGACTAGCCCTCCCCCTCCTGCCCAGCAATTTACTCTTAAA AAGGTGGCTGGAGCTAAAGACATAGTCAAGGTTAATGCTCCTTTTTCTTT ATCCCACTTCTCCCAAATCAGTTAGTGTTTAGGCTCTTTTTCATCAAATA TGAAAAACCCAGCCAGTTCATGACTCATTTGGCGGCAACCCTGAGACGCT TTACAGCCCTAGACCCTAAAAGGTCAAAAGGCCGTCTTATTCTCAATATA CATTTTATTACCCAATCCGCTTCTGACTTTAAATAAAGCTCCAAAAATTA AATTCCGGCCCTCAAACCCCACAACAGGACTTAATTAACCTTGCCTTCAA GGTGTATGATAATAGAAAAAAGTTGCAATTCCTTGCCTCCACTGTGAGAC AAACCCCAGCCACGTCTCCAGCACACAAGAACTTCAAAACGCCTGAACCG CAGCACCGAGGCTTTCCTCCAGAACCTCCTCCCCCAGGAGCTTGCTACAA GTGCCAGAAATCTGGCCACTGGGCCAAGAAATGCCCGCAGCCCGGGATTC CTCATAAGCCACGTCCCATCTGTGCGGGACCCCACTGAAAATCGGACCGT TCAACTCACCTGGCAGCCACTCCCAGAGCCCCTGGAACTCTGGCCCAAGG CTCTCTGACTGACTCCTTCCCAGATCTTCTCCGCTTAGCGGCTGAAGACT GACACTGCCCGATCGCCTCAGAAGCCCCTAAACCATCACGGATGCCAAGC TTCGGGTAACTCTCACAGTGGAAGGTAAGTCCGTCCCCTTCTTAATCAAT ACAGAGGCTACCCACTTCACATTACCTTCTTTTCAAGGGTCTGTTTCCCT TGCCGCCATAACTGTTGTGGGTATTGACGGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0147 a0018c0030t0001g0147	1	264	0.0038	-934	c.111 others(21): Show c.11189+2810_11190-3469del	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
IL3RA_chrX_1331785_1387689	1368708	ACACAGGG others(927): Show ACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGA GGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGG AGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCT CCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCC CAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCA TAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGA GGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGA GGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCT GTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTC TGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGG ACACAGACACACACAGAGGGATGACCCTGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	104	0.0096	-934	c.874 others(17): Show c.874+3631_874+4564del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRELID3A_chr18_12402929_12437234	12425436	TGGTGAAA others(927): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAATTA GCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCCGAGAT CATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAGTAGAAAATATAGGCCGGGCCCAGTGGCTGACACCTGTAA TCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGCTCAGGAGT TTGAGACCAGCCCGGGCAGCATTGCAAAATCCCATCTCTACAAAAAATTT AAAAATTAGCCGGATGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGG AGGCTGAAGTGAGAGGATCACTTGAGACCTGGAAGTTGAGGATGCAGTGA GCCTTGATCACACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCTG TCTCAAAAAATAAAAAAGAGGCCAGGTGTGGTGGCTCATGCCTGTAATCC CAACACTTTGGGAGGGTAAGGCAGACAGATCACGAGGTCAGGAGATTGAG ACCATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAATACAAAAAA AAACTTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCCGGA GGCTGAGGCAGGGGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTGAG CCAAGATCATGCCCCTGCAGTCCAGCCTGGTAACAGAGCGAGACTCTGTC TCAAAAAAATAAGAGAGAAAAAGAAAAAGAAAATATAGGCCGGGTGGAGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	392	0.0026	-934	c.292 others(16): Show c.292-1596_292-663del	PRELID3A	ENSG00000141391.14	transcript	ENST00000440960.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1919119	ATGGGTGA others(926): Show ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCCGTGGGTGATG GAGCTGTTCTCTGGGTGATGGAGCTGTTCCGTGGGTGATGGAGCTGCTCC GTGGGTGATGGAGCTGTTCTGTCGAGTGATGGAGCTGTTCTGTGGGTGAT GAGCTGTTCTGTGGGTGATGAGTTGTTTTATGGGTAATGGAGCTGTTCTG TCAGTGATGGAGCTGTTCTGTGGGTAATAAACTGTTCTGTCAAGTGATGA AGCTGTTCTCTGGGTGATGGAGCTGTTCCATGGATGATGGAGCTGTTCCT TGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCCATGGGTGATGG AGCTGTTCTGTCCAGTGATGGAGCTGTTCCGTGGGTGATGGAGCTATTCT GTGGGTGATAAACTGTTCTGTCGAGTGATGGAGCTGTTCTATGGGTGATG AGCTGTTCTGTGGATGATGGAGCTGTTCTGTGGGTGATAAACTGTTCTGT CAAGTGACAGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGA GCTGTTCTATGGGTGATGAGCTGTTTTGTGGGTGATGGAGCTGTTCTGTC AGTGATGGAGCTGTTCTGTGGGTGATAAACTGTTCTGTCAGTGATGGAGC TGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGGAGCTGTTCTGTGG GTGATGAGCTGTTCTGTCAGTGATGGAGCTGTGCTGTGGATGATGGAGCT GCTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGAT GATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTG TTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGATG ATGGAGCTGTTCTATGGGTGATGGAGCTGTTCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG01891.hp1 HG02572.hp1 HG02615.hp1 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0141 others(1): Show a0001c0002 a0001c0003 a0001c0141 a0003c0040	a0001c0002t0001 a0001c0003t0006 a0001c0141t0007 others(1): Show a0001c0002t0001 a0001c0003t0006 a0001c0141t0007 a0003c0040t0011	a0001c0002t0001g0327 a0001c0003t0006g0353 a0001c0141t0007g0310 others(1): Show a0001c0002t0001g0327 a0001c0003t0006g0353 a0001c0141t0007g0310 a0003c0040t0011g0041	4	362	0.0110	-933	c.214 others(19): Show c.2144-3826_2144-2894del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEAF1_chr11_639233_700222	654226	TGGTGCGA others(926): Show TGGTGCGATCTCAGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGCAATT CTCCTGTCTCAGCCTCCTGAGTCTGGGATGATAGGTGCCTGACACCACGC CCAGCTAATTTGTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTC AGGCTGGTCTTGAACCTCTGACCTCGTGATCCACCTGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCTCCCATTGGACT CTTGACTGCGCCTCTGCCCCAGTGCTGCTCAGAACGTTCTTGTCACCTCC AGAATCAGCTCTTTCCTGGCCTCAGTGCAGTTTGCCCCCTACATTCATTC ACTGGAAGACCAGTATGGGCCGGGAGCAGCGGCTCATACCTGTAATCCCA GGACTTTGGGCAGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAGC ACAGGCAACGTTGCGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCT GGGTGTGGTGGTGGCCACCTGTAATCCCAGCTACCTGGGAGGCTGAGGTG GGAGAATAGCTTGCACCCAGGAGGCGGAGGTTGCAGTGAACCGAGATTGC ACTACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCCATCTCAAAAAA AAAGGGAAATCAGGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAGCAC TTTAGGAGGCTGAGGTGGGCGGATCACGAAGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGAGATTGTACCATTGCACTCCAGCCTGG GCGACAGAGCAAGACTGTCTCCAAAACAAACAAACAAACAAACAAACAAA AACAAAGGGAAATCAGCATGGAAATCTTTCTCCAAACTCCAAGGAGCTTC ACTCCAGCCAGGCCAGCACAGAAAATCAAACTCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03209.hp1 HG02630.hp1 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198	3	344	0.0087	-933	c.150 others(18): Show c.1504-1108_1504-176del	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DENND2A_chr7_140513420_140645813	140583251	GTGAGCCG others(926): Show GTGAGCCGAGATCGGGCCACTTCACTCCAGCCTGGGCGACAGTACGAGAC TCTGTCTCAAACAAACAAACAAACAAGCAAACAAAAATAACAAAAAAAGA AATGGTTTAACTGAGTGTTACAGATAATCAGAGAGAAAGAAGTCCCAGGG ATTGGGATGGCTGGAGACGCTTCTTAAAGGACGCATGATTGAACTGGGCC TCAGAGGATGGGGAGAGGTCCCGGTAAGAGCCAAGGGCAGAGTTAAAAAT GACCTCGCTGGTTGGCACCTGTGGGCCACATCTGGCCCACCACCTGTTTT TGTACAAGCCATGACTTAAGAATTAACTTTTACATTTTTAAATGGTTGGA AAAATAAATATTTCATGACAAGTGACAATCATATAAAAGTCAAATTTCGC CGGGCGCGGTGGCTCACGCCTGCAACCCCAGCACTTTGGGAGGCCAAGGC GGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGTGAATGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCGGAGAATGGCGTAAACCT GGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCT GGGCGACAGAGCAAGACTCCGTCTCGAAAAAAAAAAAAAAAGTCAAATTT CAGCATTCAGGTCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTG GGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCT GGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCCAG GCGTGGAGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGG AGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp1 HG02615.hp1 others(18): Show HG00642.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0009 others(5): Show a0001c0003 a0002c0002 a0002c0009 a0002c0016 a0003c0004 a0003c0005 a0003c0006 a0003c0010	a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 others(8): Show a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0009t0002 a0002c0016t0003 a0003c0004t0002 a0003c0005t0002 a0003c0005t0003 a0003c0006t0002 a0003c0006t0003 a0003c0010t0002	a0001c0003t0002g0035 a0001c0003t0003g0024 a0001c0003t0003g0252 others(18): Show a0001c0003t0002g0035 a0001c0003t0003g0024 a0001c0003t0003g0252 a0002c0002t0001g0018 a0002c0009t0002g0017 a0002c0016t0003g0025 a0003c0004t0002g0214 a0003c0005t0002g0005 a0003c0005t0003g0013 a0003c0005t0003g0014 a0003c0005t0003g0019 a0003c0005t0003g0020 a0003c0005t0003g0134 a0003c0005t0003g0248 a0003c0005t0003g0249 a0003c0005t0003g0250 a0003c0005t0003g0251 a0003c0006t0002g0016 a0003c0006t0003g0031 a0003c0010t0002g0021 a0003c0010t0002g0026	21	252	0.0833	-933	c.124 others(19): Show c.1245+1405_1245+2337del	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	5/19			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805521	TCCCTCCC others(926): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCT CCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	306	0.0033	-933	c.13 others(11): Show c.1356_*2288del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1235		chr2	TogoVar
MPPE1_chr18_11877622_11913317	11900649	TGTAATCC others(926): Show TGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAA TACAAAAAATTAGCCAGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACT CGGGAGGATGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAAAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGAC TCCGTCTCATTAAAAAAAAAAAAAAAGTAAGAGAAAAAGAAAAATAAATA GGTGTGAAAATGTACTTTGAGCCATTATCAAAAGTTTAAAACCTAACGGA AAAATTGGCAATACCTTCAGAAACTGATAAATGAAGAAATCTTCTCATAA GTATTCTAATGGAGCATTGGCAATGGGTATGTGGTACTATTAAGTATTCA TTACTATTTCTGGCTTTTCAGAAGATGAAAGGGTAGGCAATGGTGAAATG GACGGCCCTTCCATTGGGGACTGTCATTCCTCTGTTTCATTAGAATGGCA TTACCTATATTAACTCTTGATTTATTTATTTATTTATTTTTATTTTTTTG AGACAGAGTTTCTCTCCCATCACCCAGGCTGGAGTGCAGTGGTGTGCTCT CAGCTCACTACAACCTCCACCTCCTGGGCTCAAGCAATCCTCCTACCTGA GCCTCCCAAGTAGCTGAGACTACAGATGTGTACCACCACACCCAGTTAAT TTTCATATTATTAGTAGAGATGGAGTTTCACCACATTGGCCAGACTGGTA TCGAACTCCTGGCCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACT AGGATTACAGGCGTGAGCCACTGTGCCCAGACTAAGTACTTAATTTAAAA GGGAACAGCTGGCCTGGCACAGTGGCTCACAGCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0395 a0001c0001t0139g0395	1	454	0.0022	-933	c.-92 others(17): Show c.-92-4226_-92-3294del	MPPE1	ENSG00000154889.17	transcript	ENST00000588072.6	protein_coding	2/10			chr18	TogoVar
TMEM132D_chr12_129066726_129909025	129857367	GGAGTCCG others(926): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGG AAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGG GTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGCTGCCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02976.hp1 others(2): Show HG02486.hp2 HG02818.hp1 HG02976.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0013t0017	a0001c0001t0001g0015 a0001c0001t0007g0022 a0001c0001t0014g0004 others(2): Show a0001c0001t0001g0015 a0001c0001t0007g0022 a0001c0001t0014g0004 a0001c0002t0001g0073 a0001c0013t0017g0021	5	75	0.0667	-933	c.79+ others(17): Show c.79+44961_79+45893del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
UNKL_chr16_1358205_1419704	1372998	ACACAGGG others(926): Show ACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCAC ACCACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGG AACACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCAC ACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG AGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGAGCACACCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02055.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0029 a0001c0012t0053 a0001c0001t0029 a0001c0012t0053	a0001c0001t0029g0061 a0001c0012t0053g0015 a0001c0001t0029g0061 a0001c0012t0053g0015	2	318	0.0063	-933	c.126 others(19): Show c.1265-2320_1265-1388del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
BACH2_chr6_89921528_90301843	90090633	TTTACCAT others(925): Show TTTACCATCAAATGACCCTCATTAGGCCAGACTGAGTTAGATGTGGACAG TGGGGGAGCTGTGACTTGTCCATGGGGTCTCCACATGGAAAAGCATGTGA GAGAATTCAGAAATAATTCCCATAATATCGTGAGAAGAAAAACCACTGAT TATTTGTGGGTTGATAATTCATCTTCTAGAGTAGTGAGGCCTTGTATTTT CCTTCCTTCTGGGGTTTTCCTATTTCTTGGACATTTTGCTCTTCCTCAGG ATGGCATCAAAAAGCAGAAAAAGATGCAAAGACAAAATCAAATCAGAATA GCTAATAATAATGGCTAACCCTTATGCATGATTACAGTGTGTCCACTCCA ATGCCAGGTCCTTGTATGTATTATCTCATTTAACGCCAAGTGCATTGGTA ACAAAACTGGTGGCTGGCAAGTTTGAAAGTATGTGCCCACTCATTGGTCC TCCTTATTCCCCAATAAGTTTGTAGGAATTTGGGCTTCAGAATTCCAAAG ATGTATTCAAGCCTAGTGTCTCATTACTATGTTGACTCATTGCCTAGCTA TATATCACAAGCTTGATCTTTCCACTCTTTGGTCAGTACCATCTATAGCA TCTAAACGAAGCAGAGAAAGTCTAAGAAAATTCTAGACAATAGTAAACCC TTTGAAAGTCCTATATTGACACGGGGAAGGCTATAGCTCTTTGAGCACAA TAGAGAAGTGTGAGGTAAGAGTGTTATATAACACAAAACAGGTTATACAT GGAGAAAGACATGAAGACACAGATAAAATACACACTTGAAAAAAGAAACA TACAAACACATTCTTCCCAAATGTGGCTACGAATTAGGAATGCTAAAGCA GGTCTTACAGCCCCAGGTTCTTTTAGATTTATAGCTTTTTCTAATAATCT CTCTTTCTCTTTCCCCTTTATGTATATTTAACC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	192	0.0052	-932	c.-16 others(19): Show c.-161-2456_-161-1525del	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
CRAMP1_chr16_1607360_1682908	1616557	AGGTCAAT others(925): Show AGGTCAATTTTTGGCAGTTGGGACGAGGGGAGGCTTGCTTTTGTTTGTAT AGTTGAGAGTGGCTTGCTAAGGTGCAGAAGGTTTCCTGAGCTTGGCTCAC ACTTAGGTTGCTGGCACTTCTTTCTTTGCTTCTTGTCCCATTGTGTGGCT TGGAGAAGCGTGGGACTTTTCATTAAGTTTTAATATTAATAAAATGCAAA TTTATTAGAATTTGTGCTCCTCGTGACATATCCATTATCCCACTTTAGCA AGCAAATATATCTTTTTTTTTTTTTTGAGACTGAGTCTCACTCTGTCACC CAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCATTGCAAGCTCTGCCTCC CAGGTTCACACCATTCTCTTGCCTCAGCCTCCCAGGTGGCTGGGACTACA GGCGCCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTGGTATTTTTA GTTGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTTGTGATCCTCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAGGCATG AGCCACCGCTCCTGGCCACAAGCAAATATATCTTTAAGCAAATAATAAGC TAAGCTGTGATGGTGGCTTTTAGGAGAGGAGTAGGAAGTGGGTCTCCTTT GCATCACAGAACTTCTCGGCCACTGTCTGCCTTGGAGCTTCCCGGGAAGG AAGGCTGCCTGTCCGCTGCTCTCTGCTTTCAGGTTCCTCAGTGCTTTGGG AGGCACTTCACTGTGCCCAGGACATCCTCTGACACCAGTCTTTGGAGAGA CCTCTGCTCAGTCGTTGCTTCCATTACCCGTCAGAAAAGAAGGCCAGGTG GTGGCAGTTGCCCCGCAACAGTCTTTAGCTCACCTTCCAGAAAGATGCTC AGAGGAGAATCCTCTTACATTCTGGAGAAATCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0270 a0001c0005t0005g0270	1	330	0.0030	-932	c.346 others(17): Show c.346+1574_346+2505del	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
LMLN_chr3_197955217_198048720	198004301	CCATCTAT others(925): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0045 a0004c0006t0045	a0004c0006t0045g0100 a0004c0006t0045g0100	1	239	0.0042	-932	c.131 others(19): Show c.1319+1228_1319+2159del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PBX3_chr9_125742373_125972377	125887285	AGAAAGCT others(925): Show AGAAAGCTGTGTTGCAAAGTGGTTTTGTATAGCATATTGTAATTTGACAC TTAAGTTGTGCCCTGCATTACCCTGTGTCATAATTGATGGCTAAAGAAAA GCACACGCTATGCTAATCATTTGTTAGAATAGCTTGTTAAATTGTGGTTG CCAATTTAAAATAAACTATGGAATGCTGACTGTATTTTAAGGTTTTGTAG CCTACAGTTTTAAACAGACATTTTGAAGCTGTTTTTTAACTTTATGTTGC GTATGCACAATTCTGCCTTTGCACACAAGGTCAGCATGTTTGCCAGTTTA ACAACATATTATCAAGAACAGAATCAGTGAGCTGCAGGTTTCACATCAGT ATCTCAAGGGACTTTTCTGTGTATTTTTGTTTTTTGTGTATTGATCCTAA ATTTGGTATCTTTTTAAAAACAGTAAAATTGATATACATGAGATTTTAAG TTCTTAAAAGTAAAAAGTTCCAGAATTAGAAAGCTAATTTAGTTGTTATT AGAAAGTAAGGGTAAATTTATCTCATGTTTATCAAGCATAGTGTCTGGAC ATAAAGCAGCATTTGTTAATATAGAAGTTATTAACTACAAAATGCCAATA AGAATTTTACTGCAGTAAAATGAGATTCAGGAGATAGATTACTGTGCATA ATCAGCTTGTGAATTCTCATTTCTTAAGTGCAAATGTGTGATGAATCAGT TATATCATGTAAAGAGAGAGGAATCCAAACTTGGTGTGAATGTTGACTTA CATGATAAGTGTAATAGATAGACTTCTACTACTAGTAAAAGAACTGAAGC ATGGTGAGGAATATGTGCATTTAGACGTAAAAGAAATGTTACCTCTGTGG AGAAAAATGATTTAATGTGGGTTATTCATTTTTAAGAGATTAAAAATGAC TTGAATATAATACCTTTAATTTGTAATAATGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	292	0.0034	-932	c.275 others(19): Show c.275-28400_275-27469del	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8			chr9	TogoVar
SMAD3_chr15_67060602_67200169	67112334	TTTTTTTA others(925): Show TTTTTTTAGTAGAGATGAGGTTTCACCGTGTTGGTCAAGCTGGTCTTGAA CTCCTGACCTCAGGTGATCCACACGCCTTGGCCTCCCAAAGTGCTGGGAT GATAGGCGTGAGCCACCACACCCGGCTAGCCATTTCTAATTGGGTTGTCT TTCTACTGTTGAATTATAAGAGTTCCTTATATATTCTGGATATAAATTCC TTTATCAGATACATGGTTTGCAAATATTTTCTTCCATTTTATTTCTTTCA ATTCTGTGGGTTGTTTTTTCACTCTCTTGATGGTGTTTTTTGAAGCACAA AAGTTTTTAATTCTGATGAAGCTAAATTTGTTTTACTTTCGTCACTTTTG CTTTTTGTGTTGTATCTAAGAAACTGTTGCTTAATCCAGGGTCACAAAAA TTTACTCCCTTGCATTCTTCTAAGAGTTTTATAATTTTAGCTCTTATATT TAGGTCTTTGATCCATCTTGACCTGATTTTTGTATAAGATGTGAGGTAGG GGTTCAACTTCATTCTTTTGCATGTGAATATCCAGATGTCCATGCACTGT TTGTTGAGAAGAATGTGCTTTCCCCAGTGAATTGTCTTGGCACCCTTGTA GAAAATCATTTGACTGTAAATGTAAAGGTTTCTTTTTGGACTCTTAAGAT TCTCTTTTATTGATCCATACATCTATCCTCATGACAGTCTTGACTACTAT AGCTTTGTAGTATTAATCAACTTTTAAAATATATATATATGTGTATATAT ATATATATATATTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGG AGTGCAGTAGTGCGATCTTGGCTCACTGCAAACTCTGCCTCCCGGGTTCA CGTCATTCTCCTGCCTCAGCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CTGCCACCACGCCCGGCCAATTTTTTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	308	0.0032	-932	c.206 others(19): Show c.206+45980_206+46911del	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMN1_chr5_70920087_70958015	70954768	GCTTGAAC others(925): Show GCTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCGAGATTGTGCCACTGT ACTCAAGCCTGGGCTAAAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAACACGTTACTA AGAGCAACTCTGGGCCAGGCACGGTGGCTTACACCTGTAATCCCAGCATT TTGGGAGGACGAGACAGGCGGATCACTTGAGCCCAGGAGTTCAAGACCAG CATAAGCAACAACGCAAAACCCCTGACTCTACAAAAAATGAAAGAATTAG CAAGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGG CAAAAGGATCACTTGAGTACAGGAGGTTGAGGCTGTATAATGAGCCATGT TCACACCATTGCACTTCAGCCTGGGCAACAGACTGAGACCCTGTCTCAAA AAAAAAAACCAAACCAAAGCAACAAACAAAAAACAAGAGCAACTCTGCTT CTGTACACTTTTTTTTTTTTTTGGTAGTGACATGATCTATGTTGCCCAAG CTGGTCTCGAGTTCCTGGGTTCAAGCCATTCTCCCACCTCGGGCTCCCAA AGTGCTAGGATTACAGGCATGAATCACCATGCCCAGCCCTTCTGTACACT TTTCACAGTGTACCCTTTTGTGTTTTTTAAAATGTTTGTGTATACATTTA TTGTGAATTTTTAAAAAACATGTAATTAAGGCCAGGCATGGTGGCTCATA CCTGTAATCCTAGCACTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGT CGGTAGTTCGAGACCAGCCTGGCCCAACATGGTGAAACCCCATCTCTACT AAAAATACAAAAAAAAAATTAGCTCGGCATGGTGGTGGGCGCCTGTAATC CCAGCTACTGGAGAGGCTGAAGCATGAGAATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	36	0.0278	-932	c.23 others(11): Show c.2334_*3265del	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding		1754		chr5	TogoVar

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