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
NEU4_chr2_241804193_241822413	241805599	TCCCCCCT others(741): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0136 a0002c0008t0002g0136	1	289	0.0035	-748	c.-36 others(11): Show c.-3678_-2931del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3593		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805609	GCCCAGGA others(741): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	276	0.0036	-748	c.-36 others(11): Show c.-3668_-2921del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3583		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132148992	CGCCGCCT others(741): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0001 a0009c0038t0001	a0009c0038t0001g0155 a0009c0038t0001g0155	1	285	0.0035	-748	c.901 others(15): Show c.901+106_901+853del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPIPB15_chr16_74371306_74397115	74396367	CACTTGAA others(741): Show CACTTGAACTCAGGAGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTG CGCTCCAGCCTGGGTAAGAGACTTCTCAAAAATAATAATAATAAAAAAAA TAAAATACAAAAACTAACAAAACACCTAGGAAACTTTGTAACCAGGCTCT TGAGCCGCTTGCTTAGGCCCACTCCCGCCCTGCAGAGTGCTTTATCTGTT TCATAAATTCCTGCTTTCACTGCTTCCTTCCCATGTCTCATTGCTATGCT ACTTTGTGGATTTTGTTCAATTCTTTGTTCAAAATGCCAAGGACCTGGAC GGCTCACACTCACAGCCCTGCTTCCCGGAACAGGCCTGGCTGAGTTCCAG CTGTGCAGTGAAGCCCAACTGTGGGAGGCGGGTGACCCTGGACTCCCTCT CATGATCTGGACAGAGATGGGGTCTGGGGGTACACCTGGTCTCAGACCAG CCCCAGATTCTTTTGTGACCTGAAGGCAGCTGGCTGGTCATTGGAACTGG CAGAGTCCCTCCAACGATTGGGGAGGGAGCCTCTGAAGCAATCTTTAGAG TGACATCTGGGACACAGTGAGGAACCCCCTGGCTGCTGAACGAGGGGTGT CTGTGAGCCAGGACCACTGGGCACCAAGGGCCTGAATCCAGGCTCCTCTG CCCCAGGACTCGTGGTATGCTGTGACTGCAGGGACAGGCAGGACCCCATC CCCTTCTCCCCAAATGCAGTCACACCCCAGACGGGCCCACTTGCAAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	260	0.0038	-748	c.42 others(11): Show c.4288_*5035del	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding		4253		chr16	TogoVar
PPP1R8_chr1_27825782_27856676	27853337	GTGAGGGG others(741): Show GTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCAG GAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-748	c.28 others(11): Show c.2892_*3639del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1662		chr1	TogoVar
RGS12_chr4_3288021_3444913	3444165	AGCTGGGC others(741): Show AGCTGGGCCTCGGAGGTCCGCAGGGGTCCAGGGGCCGGAGCAAGTCCCCG GAGGATGGGAGAACAGGTGGCTCCCGAGTGCAGGGCAGGGGCCCTGCACG GGGACAGCAGGTGGCAGGGTGTGAGGGCTTACTGTGCACCCCTCAGAGAA ATGCTTTGATGAGACCCGCTACGAGTACCTGGAGGGGGGCGACCGCTGGG CCCGCGTGCGCCAGGGCCACGTGGAACAGTGCGAGTGCTTCGGGGGCCGG ACCTGGTGCGAAGGCACCCGACATACAGGTGCGCCACGGGGTGTGAGCCG TGCCACTGACCCCTGACGGGTGTCCCTGTCCACACCCGAGTGGGAGGAAT GGCCTGAGGTCACCCAGAAACAAGGGACAAGGGGTGGACCCCGGCCCCGA CTCCGCTGTCGTGGGGCACTGCGCGGCCCCTGGCCCAGCTCCTCGGCCCT GCCCCCAGCTTGTCTGAGCAGCCCTTGCCTGAACGGGGGCACCTGCCACC TGATCGTGGCCACCGGGACCACCGTGTGTGCCTGCCCACCAGGCTTCGCT GGACGGCTCTGCAACATCGGTGAGTGGGTCAGCCCCCCGGGGTGCCCTGG GGCAGTGCCGGGTGGACCCACCGTGGGCCGGCCTCACTGCCCCTCTGCCC GCAGAGCCTGATGAGCGCTGCTTCTTGGGGAACGGCACTGGGTACCGTGG CGTGGCCAGCACCTCAGCCTCGGGCCTCAGCTGCCTGGCCTGGAACTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0231 a0001c0004t0001g0231	1	310	0.0032	-748	c.44 others(11): Show c.4482_*5229del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		4253		chr4	TogoVar
SNTG2_chr2_945849_1372613	1094194	AAAGGCCT others(741): Show AAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCA GCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAG AGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGG TGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGC AGGCGAAGGCCTTGTAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGG GCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATG GTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTA TAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCGGCTTCCTGGA CTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGC AAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCA TATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGC CTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTAC TGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATGTGGTAGAGTTAC TGGCAAGGGCTGGCTTCCTGGGCTGCAGGCGAAGGCCTTATAGGTGTGTC CTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0104 a0003c0007t0001g0104	1	174	0.0057	-748	c.211 others(17): Show c.211-3922_211-3175del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYT11_chr1_155854567_155890199	155874472	TGCCTGTA others(741): Show TGCCTGTAGTCCCATCTACTCAGGATGCTGAGTTGGGAGGATCACTTGAG CCCTGGATGTCAAGGCTGCAGTGAATGCACACCACTGCACTCCAGCCTGG GCAAGAGAGTGAGACCCTATCTCAAAAATAAAAATAAGGCCGGGCGCGGT GGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCA CGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAGT CCCAGCTACTCAGGAGGCTGAGCCAGGAGAATGGCCTGAACCCGGGAGGC AGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGAC AGAGCAAGACTCCGTCTCAAAAAAATAAAAATAAAAATAATAAAAATAAA ATAAAACTGGCTGAGGATACTTTCCATGGATACGATTAAGAGCTGACAAT AGGCCGGGCATGGTGACTCACGCCTGTAATCCCCGCACTTTGGGAGGCTG AGGCAGGCAGATCATGAGGTCAGGAGTTTGAGACTAGCCTGGCCAATGTA GCGAAACCCCGTCTTTACTAAAAATACAAAAATTACCCGGGCATGGTGAC ATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTT GAACCCAGGAGGTGGAGGTTGCAGTAAGCCATCGCACCACTGCACTCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG01975.hp2 others(2): Show HG00140.hp1 HG01433.hp2 HG01975.hp2 HG01978.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0003g0187 a0001c0001t0003g0188 others(2): Show a0001c0001t0001g0087 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190	5	312	0.0160	-748	c.861 others(17): Show c.861+5688_862-5274del	SYT11	ENSG00000132718.9	transcript	ENST00000368324.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129088798	GGGTGTCC others(741): Show GGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGA CCGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTG ACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCA TGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCT CTATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGT CCTCCATGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGG GTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCTATGACC GGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTG ACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTC CATGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGTGTC CTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGG TGTCCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGG GTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	91	0.0110	-748	c.144 others(19): Show c.1444-4844_1444-4097del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
DMXL2_chr15_51442791_51627771	51528078	ATACAGTG others(740): Show ATACAGTGAATACACCAAAAATAAAAAGCAAAAAACTAAATCACACCACC AGCAAAAGTCAACTTCACTAAAAGAAACACAGGAAGGAAATAAAGAAGGA AGACCACAAAACAACCAGAAACAAATAACAAAATGGCAGGAGTAAGTCCT TACTTACTAATTACTTGGACTAAATGGACTAAATTCTCCAATCAAAAGAC ATATAGTGGCTGAATGGGTAAACAAAATTCAATAATCTGTGGCCTGCAAA AAACACACTTCACACATAAAGACACACACAGGCTGAAAATAAAGAGGTGG GAAAAGATATTCCATGCCAATGGAAACCAAAAAAGAGCAGGAATAGCTAT ACTTATATCAGACAGATATACTGATATCAGTATCATTATTTTCTGATACT ATGTATCAGACAAAATAGTTTTCAAGACAAAAACTGTAAGAAGAGACAAA GAAGGTCACTATATAATGCTGAAGGGGTCAATTCAGCAAGAGAATATAAC AATTTTAAATGTATATGCACCCAACACTGGGGCACCCAGATATATCAAGC AAATATTAGAGTTACAGAAAGAGATAGACCCCAATAAAATCATAGCTTGA GACTTCGACATCACTCAGAATTGGACATATCTTCTAGACAGAAAATCAAC AAAGAAACATCAGACTTAATCTGTACTATCAAAAACAATAGATATTTACA GAACATTTCATCCAACAGCTACAGAATATACATTCTTTTCCTCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0036 a0003c0003t0003g0036	1	344	0.0029	-747	c.243 others(19): Show c.2436+6838_2436+7584del	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	13/43			chr15	TogoVar
EDEM2_chr20_35110364_35152336	35128254	GCGCCTGT others(740): Show GCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ATCCGGGAGGTGGAGTTTGTAGTGAGCGGAGATCACACCACTGCACTCCA GCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAATAAAAACAAAAA CAAAAATTAGCTGGGCGTAGTGGTGGGTGCCTATAATCCCAGCTGCTCAG GAGGCTAAGACAGGAAAATCACAGGAGAATTGAACCTGGGAGGCGGAGGT TGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGCAACATAAGC AAAACTCTGTCTAAAAAAAAAAAAAAAATGAAACAGCTTCAGGCAGGTCC TTCAAGGAATTCCAGAAGGCATTGTTATCAATCATCTGAGATAACAACAG TTCTGTGAGTGTTACTGCCCCCAAAGACCTTCTAGCAGGATAACATGGGG AAGTGGAAGACAGTGATATTGATGATACTGACCCTAGGCCTAGGCTAATG TGTGTTTGTAGCTTAGTTTTTAACAAAAAAGTCTAAAAGGTGAAAACAAA ATAAAAAACTAAAAACAGAAAAAAACTTAGAGAATAAGGATATAAATAAA ATATTTCTGTATAGCTGTACAATGTGTTTTAAGCTAAGCATTATTACAAA TGAGTCAAAAAGTTTTTTAAAATTTTAAAGTTCATAAAGTAAAAAAGTTA CAGTAAGCTAACGTTAATTTATTATTGGAGGCCAGGCATGGTGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG02055.hp1 others(13): Show HG00323.hp2 HG01261.hp2 HG02055.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03540.hp2 HG04204.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0002g0040	16	330	0.0485	-747	c.845 others(17): Show c.845-2626_845-1880del	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding	7/10			chr20	TogoVar
KCNG2_chr18_79792938_79905100	79885980	TAGGGACG others(740): Show TAGGGACGTGGGGACAGGAACATGGGGACACAAGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATG GGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(46): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18966.hp2 NA18967.hp2 NA18979.hp2 NA18982.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19012.hp2 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0158 a0001c0003t0001g0035 a0001c0003t0001g0071 others(45): Show a0001c0001t0001g0158 a0001c0003t0001g0035 a0001c0003t0001g0071 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0139 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0180 a0001c0009t0001g0165 a0001c0009t0001g0166 a0002c0002t0001g0001 a0002c0002t0001g0114 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0200 a0002c0002t0001g0268 a0002c0004t0001g0004 a0002c0004t0001g0039 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0060 a0002c0004t0001g0089 a0002c0004t0001g0137 a0002c0004t0001g0140 a0002c0004t0001g0142 a0002c0004t0001g0151 a0002c0004t0001g0157 a0002c0004t0001g0254 a0002c0004t0001g0287 a0002c0004t0001g0306	49	310	0.1581	-747	c.625 others(19): Show c.625-13053_625-12307del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCTD5_chr16_2677523_2714030	2705557	CCAGTGCG others(740): Show CCAGTGCGGCAGACAGCAGACCCCTATCTCAGCTGCCAAATCCTGCGGCA TCCCTGATGCGCTTAAGCCTCCCAGGCCAGCCGTGTCCTGCAAGCCCCTC AGCCACCCGGGCCTGCCTGCCTGTGGGGGTGTCTGGCCATGGGGTACAGC CTCAAGGGCCCCCTGGTTGGTGTCTGCAGTTGGACCTTCCTGTGGAAGAT GGCCTAGGGAGACAGTGTGTCCAGAAAAGATGGGTCTCACCCCAGGCTCT GTCTAGAGTAGCCCGTGCTGCTCCCGGCCTTGGGAGGGCGAAGGACAGCA CTTTGGCTGCAGGTCTCCAGGGTGTCTCCTGCCCTCATCAGGAGGGAGCT GTTGGGGCTCCCGGATGCTCAGATGCCACACTGCTCCTGGCCTGTCCGCT GCGCTACTTAGTTTTACACAGGGCTGGTGGGGGCTTGGGGGCTGCACTGT CTCCCCAAGTCAACTCCAGACATCCCAGTAAACTTGGGAATCACCCTGGC CCAGGGAGGGACGTGCTGCCCCTCGCACAGGGGGATGGGCTCCTCCGAGG CACTGGAGAGTGAGTGGGAGCCTCGAGCTAGAAGTGGTCCAGGGCACTGA GCCTGGGGGGCACCCGCCTGGGAACGGCAGAGCTGTTGGGGGGTGGAGTA TTGGAGTCAGGCTGAGCAGCTCAGGGGACGTGGCCTCCAGGAGCCTTCGG AACAAGCCTGGGGTGGCATGCACCTCTCACCACTGCCCTCTCTCCGGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	412	0.0024	-747	c.676 others(16): Show c.676-1730_676-984del	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PPP1R8_chr1_27825782_27856676	27853228	CCGTCCGG others(740): Show CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCGCCCCGCCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGC CCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAGCCGCC TCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCT CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA19007.hp1 NA19087.hp1 NA18966.hp2 NA19007.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0001 a0001c0001t0001g0084	3	338	0.0089	-747	c.27 others(11): Show c.2783_*3529del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		1553		chr1	TogoVar
TENM2_chr5_166974029_168269157	167431925	ATACATAT others(740): Show ATACATATATATATACATATATATGTATATATATATGTATATATATATAT ATATGGAAGTTCAATGCTTTCTGTAAACTGGAATTTTAAGTGTATATCTA CACTTGAGAAAAATAATGGTCAAGATAAGAGAAAAATATATGGAAGTTAA ATTCTAATGCAGTAAAAACCCCCCTGGAAACAAACTGTTACCCCTGGTCA ATTACTCACTTGCCACCATAGATTTTTAGGAGAGATTCGCAATATGGGAA AGCACAGTGAGTGGTTTACCTCCATAAAACAGCTCATCATCAACGTGAAC TCGTATTTAAATCTGAATTACCAGCATCTGAATTTTTCAGCATGAGGCAG CAAAAGATTGAAAAGCAGTGTTTTCTGATATTGCTCTAAATTATGATTTC CATAGATATAACCTTTATCATTTCTTCTCCATACCGGAAAAATAAAAACC GGTTAAGGTAACCCCACTGCATTCTTTTCTTCTGCTTGTTGTACACTTCA CAGTCACAGAGTGAATCAGCTTTGCTAAACGCATTCATTAGTGCCCAATT TGTTTCTCTTCATCTCTTTGAAGAAATCTTGCAAGCTGTTGGAACGCTTA TTTTATTTTGATTCCACAGTGGAAAATTGTATTCACATAAGTAAGCATAT ACCAAACAGCAATAAATCATTATTTCTCAGATGACCAATATCAGCAGGAA TCTCATATACTTCTCTGCTGGAGTTGATTTCCAAATTCATTGAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0050 a0001c0031t0001g0050	1	54	0.0185	-747	c.502 others(19): Show c.502+56455_502+57201del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291361	CCCCGTGT others(740): Show CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG TCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTG TCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTG TCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	280	0.0071	-747	c.121 others(18): Show c.1214+391_1214+1137del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291730	TCCGTGTC others(740): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTG TCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTC CCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCC GTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCC CTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC ACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0041 a0004c0013t0001g0041	1	259	0.0039	-747	c.121 others(16): Show c.1214+22_1214+768del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
AFDN_chr6_167821911_167977023	167940519	GCCATCCA others(739): Show GCCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGA GGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGT AGGGGTGAGGGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAG GGATGTAGGTGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAG ACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATC CACAGGAGACATATGGACAGACACAGAGAGATGTAGGGGTGAGGGTGGAA ACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGA GGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGT AGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAG AGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAG ACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGT GTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGG AGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0283 a0001c0007t0001g0283	1	323	0.0031	-746	c.310 others(19): Show c.3100-2589_3100-1844del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7orf50_chr7_992006_1143247	1128439	CATCTCGG others(739): Show CATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTC ACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGC GATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG01496.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0194 a0001c0001t0005g0321 a0001c0001t0004g0194 a0001c0001t0005g0321	2	244	0.0082	-746	c.-1- others(15): Show c.-1-1799_-1-1054del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2106011	GGAGGGTT others(739): Show GGAGGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACC CTGGAGAAGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCC ACCCTGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCG CCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGG GTGCCCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCAC TGGGCGCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAG CCACTGGGCACCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCGTG AAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTGAGCTGGGCGTC CTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTTTCCACCTCAGCTGGGG TGTCCTGAAGCCACTGGGAGCCCACCCCGGGGAGGGTTTCCACCTCAGCT GGGTGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGGGTTTCCACCTCA GCTGGGCATCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACC TCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGT TTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGCTCACCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0042 a0001c0018t0042	a0001c0018t0042g0083 a0001c0018t0042g0083	1	95	0.0105	-746	c.50- others(15): Show c.50-9190_50-8445del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1015994	AGACGGCG others(739): Show AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT ATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0030 a0003c0005t0002g0030	1	40	0.0250	-746	c.73+ others(19): Show c.73+108033_73+108778del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
LPP_chr3_188149157_188895671	188784676	TATATATA others(739): Show TATATATATATTCCATCATATATATATATTCCATCATATATATATATTTC CATCATATATATATTCCATCATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATTC CATCATCATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATTCCATCATATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0015 a0005c0012t0015	a0005c0012t0015g0054 a0005c0012t0015g0054	1	74	0.0135	-746	c.141 others(21): Show c.1410+24442_1410+25187del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASSF2_chr20_4775023_4828608	4826754	AAAAAATT others(739): Show AAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGG GAGTCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATTCAGTTCCTCAGGGGCATTTG CCATGTTGCAAGTGTTCAATAGCCACAGGCTACCAGATTGGGACAGCACA GGTTTACAGAACAAGGAGGCCACTGATGAGTTTGGAGTCTCAAAGCTAAG TTCCTTTTTTCCTTAGCAAAACAGTAGTGGGAATGACAAGCATGGCCAGA GAAAGAAAAGGAGCTTCTGCATTTCTTTGTCTCCCCGTATAACAGCTGGA GAGGCAGATCAGAGTTCTCCTGTGTGGCTTGGGAAAAGGAGGCTATGCAG AGAACTGGGAGGCCCAAAGCCCACTCCTCAGTTCCCAGTGGATTCTGGGA AAAGGGAGGAAGACAGAAAGTCCTGGATGCTGCGTCTCCCCTATTTGTGA CCTTTGACCTTAGAGCAGAGGTATGTTGGTGGGTTAAGTGGAGTTCTGGG GATAGAATCAAGGATTACAGGCCAGGTGCGGTGGCTCACGTCTGTAATCC CAGCACTTTGGAAGGCCGAGGCAGGAGAATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTAATACAATTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00597.hp2 others(93): Show HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03017.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18965.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0001t0068 a0001c0001t0072	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(83): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0177 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0381 a0001c0001t0002g0028 a0001c0001t0002g0245 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0330 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0003g0323 a0001c0001t0003g0343 a0001c0001t0004g0300 a0001c0001t0004g0332 a0001c0001t0004g0345 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0356 a0001c0001t0004g0358 a0001c0001t0004g0382 a0001c0001t0004g0390 a0001c0001t0005g0288 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0321 a0001c0001t0005g0324 a0001c0001t0005g0363 a0001c0001t0006g0027 a0001c0001t0006g0328 a0001c0001t0006g0331 a0001c0001t0008g0302 a0001c0001t0008g0311 a0001c0001t0011g0341 a0001c0001t0012g0171 a0001c0001t0013g0030 a0001c0001t0013g0316 a0001c0001t0013g0319 a0001c0001t0013g0327 a0001c0001t0015g0003 a0001c0001t0015g0315 a0001c0001t0022g0365 a0001c0001t0023g0353 a0001c0001t0023g0355 a0001c0001t0025g0031 a0001c0001t0025g0320 a0001c0001t0033g0308 a0001c0001t0055g0303 a0001c0001t0057g0301 a0001c0001t0058g0309 a0001c0001t0059g0322 a0001c0001t0064g0336 a0001c0001t0068g0334 a0001c0001t0072g0348	96	428	0.2243	-746	c.-40 others(11): Show c.-4051_-3306del	RASSF2	ENSG00000101265.16	transcript	ENST00000379400.8	protein_coding		3147		chr20	TogoVar
B3GALT1_chr2_167288001_167879045	167810059	CTGTGGGC others(738): Show CTGTGGGCGTAGGACCCCCTGAGCCACGCGTGGGATATAATCTCCTGGTG TGCGGCTTGCTAAGACCATTGGAAAAGGACAGTATTAGGATGGGAGTGAC CCGATTTTCCAGGTGCCATCTGTCACCGCTTTGACTAGGAAAGGGAATTC CCTGACCCCTTGCACTTCCTGGGTGAGGTGATGCCTCGCCCTGCTTCGGC TCACACTCAGTGCACTGCACCCACTGTCCTGTACCCACTTTCTGACACTC TCCAGTGAGATGAACCTGGTACCTCAGTTGGAAATGCAGAAATCACCCGT CTTCTCTGTGGCTCTCACTGGAAGCTGTAGAGTGGAGCTGTTCCTATTCG GCCATCTTGGCTCCACCCTTTGTTTGTTTTTTCATTGAAAGAGAAAAGTG AACAGATTGGTATTTAGGAGCCAGACAAAGAAGAAGGAACAGATTGACTG CTTAAGGTATCATATCTTTGGGGTTACTGTTGTGCCAAGTTCAATGAATA TAGGCAGCAACAGGAATCTTAATATAAATTTTTACTCCAACATTGACCAT TCCAGCCATCTGTGTATTACAAAGTACGTCATTGTTTACTACCTAAGTTT AACATCCAACTAAGCTTGCTAAGCCTCATAGATCCCACTGCATGCCCGAC ACAAAGAAAACAACACACAGACCCAAAGGCAGCTTATCAGATAATTTTTA ATACAACTCCAGGAAAACTCTGCACATACTGCCCCAAGTTGTCAAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG03225.hp2 others(1): Show HG02717.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0038 a0001c0001t0005 a0001c0001t0038	a0001c0001t0005g0012 a0001c0001t0005g0051 a0001c0001t0005g0058 others(1): Show a0001c0001t0005g0012 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0038g0109	4	116	0.0345	-745	c.-35 others(19): Show c.-351-8609_-351-7865del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139452659	GNNNNNNN others(738): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	2	0.5000	-745	c.512 others(17): Show c.512+1198_512+1942del	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43549979	CTCCCAAA others(738): Show CTCCCAAAGCGCTGGGATTACAGGCGAGAGCCACCATGCCCGGCCTATGT ATCTTCAGAGACTGAAGTGATACTTAGCAAAAGTTGCATGTACTATGAGA GGCAGTCAGGAAGTAAAACCAGCTGCAGAAATAGCAGATTCATGTGCCTT TTTCATTCACATATAGTGTTCATTGAATAGAAGGATAAACTCTAATACAT TAGATTTTTGTCACGCATTTGAATTCAAGTTAAACATTCTACTATAATAG GAGGTATTAATGTTGATGCATTTATTTACTAATCATAAATATTATCACTG TGACTCTGAGGATTAAGTGAATTAATCAAATTCACCTAGATTGGTGAAGA GCACATAGTAAAGCACAGAATGTTCAACAAATGAATTACATTTTAAATTT CTAGGAGAATACTGAGTCATATTCCAAATGCAACAGCCATGTATTCATAC ATAAAGGGACTAAAGTATAAAAAGCATCCAAAATGAATGATAAAAAGCTG TATTTCTTGGCACCTAGGATGGTACTCCAGTTAATAAGCTAATAGCCACC AGCTGCATATATGATATGTGATAGACACCATAAGGGCTTTGCCTGCATCT TGTTTAACCTAGAACATTTTGAGGTAAGCATCACTATCCTCCCTGCATAG AAGAAACAGGCACAGAGTAGTTAAGTCACTTTGGTTATTCATTCAAAATG GTGTGGCTGCTGAGTACCTACTAAGTGCCAAAGACTGTCTTAGGGG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03654.hp2 HG03453.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0040 a0001c0001t0002g0041	2	348	0.0057	-745	c.436 others(17): Show c.436-2811_436-2067del	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	2/10			chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626029	GAGAGAGA others(738): Show GAGAGAGAGAGAGAGAGATGGAGTCTCATTCTGTCGCCCAGGCTGAGACA TATATATATATATATATATATTGTCATATATATGTGTCATATATATTGTC ATATATATGTGTCATATATATTGTCATATATATGTGTCATATATATTGTC ATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGTCAT ATATATGTGTCATATATATGTCATATATATGTGTCATATATGTGTCATAT ATATGTGTCATATATGTGTCATATATATGTGTCGTATATGTGTCATATAT ATGTGTCGTATATGTGTCATATATATGTGTCATATATATGTGTCATATGT ATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTGTCATAT GTATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTCATATATATGTCATATATATGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0153 a0001c0001t0048g0153	1	200	0.0050	-745	c.-27 others(11): Show c.-2794_-2050del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2368		chr7	TogoVar
GABRG3_chr15_26966181_27546984	27305935	CATATATA others(737): Show CATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAACATATATAATATAAACCTATATGTTTATATATAAACATATAATAT AAACCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTA TATATAAACATATATAATATAAACCTATATGTTTATATATAAACATATAA TATAAACATATTTATAATATAAACATATGTAATATAAACATATGTTCTAT ATATAAACATAATATAAACATGTCTATATGTAAACATATATAACATAAAC ATGTCTATATATAAACATATATATAATATAAACATGTCTATATATAAACA TAAAATATAAACATGTCTACATATAAACATATATATAATATAAACATGTC TACATGTAAACATATATATAATATAAACATGTCTACATGTAAACATATAA TACGAACATATGTCTACATATAAACATAAACATGTCTATATATAAACATA TATATAATATAAACATATGTCTATATATAAACATATATAATATAAACATA AACATATAATATAAACATATATAATATAAACATATATGTTTATATATAAA CATATAATATAAACATATGTTTATATATAAACATATATAATATAAACATA TATTTATATATAAACATATATATGAACATGTTTATATATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02717.hp2 HG01099.hp1 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0016 a0001c0001 a0001c0012 a0001c0016	a0001c0001t0028 a0001c0012t0003 a0001c0016t0001 a0001c0001t0028 a0001c0012t0003 a0001c0016t0001	a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074 a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074	3	92	0.0326	-744	c.271 others(19): Show c.271-20867_271-20124del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805641	CCCCTCAG others(737): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	301	0.0033	-744	c.14 others(11): Show c.1476_*2219del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1355		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346998	GAGCGGAC others(737): Show GAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGG GAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGA GCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCT GTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGC GGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGT GGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGA GGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGC AGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGT GGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGG ACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAG ACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGAC CTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	231	0.0043	-744	c.466 others(17): Show c.466-2783_466-2040del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LUC7L_chr16_183990_234449	186152	GGGGAACA others(737): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18747.hp1 HG02080.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0066 a0001c0001t0001g0115	2	322	0.0062	-744	c.23 others(11): Show c.2302_*3045del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2837		chr16	TogoVar
LUC7L_chr16_183990_234449	186390	GGGGAACA others(737): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp2 others(8): Show HG01167.hp1 HG01169.hp1 HG01433.hp2 HG01943.hp1 HG02293.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0321	11	327	0.0336	-744	c.20 others(11): Show c.2064_*2807del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2599		chr16	TogoVar
NEU4_chr2_241804193_241822413	241805641	CCCCTCAG others(737): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	310	0.0032	-744	c.-36 others(11): Show c.-3636_-2893del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3551		chr2	TogoVar
PPP1R16B_chr20_38800697_38928024	38916201	AAAAGGAG others(737): Show AAAAGGAGAAAGCGAAGAAATACACACTCATAAATGGAAACTTACTATGG AAAGTGTTCTTTGCCTTATCACATATTACCATATATATATATAACATATA TATGTTATATATGTTATATATGTATGTTATATATAAATACATATATATGT TATATGTACATATATGTTATATATGTACGTTTTATATATATTTATATATG TATGTTATATATAAATATATGTTAGAAAACTAGATTATAAACTAGATTAT ATATATATATCTTGGACATCTTTCCATGCCAGCTTGTGGAGAATTCCTTC ATTCTTTTTGCCAGCTACAGAGCATGCCAATAGAAGTACTGGCCACAGTG TCCTGCTTGCCCAATGATGACTTTCAGGCTTTGCACTAATGAGAGAGAAA ATCTGTGAAATGGGCTTGCTGGTGCAAAGTATACAATCTTTTCTAAAAAT TTTTATCATTATTATTGTTTTTATTTTTTACTGAAGAGCTGGGGAGAGAA GAAAGGAAAAAAAGAAAAAAATTTCAGTGAAGGATGATGCAAAACTGTCC ATCAAAGAGACTGTAGCAATTTACATTCTCACTTATTTCCCCATACCCCT GCCAACACTGAGTAATAACACACTTTAAACGTATTTGTCAGTGTGATATC CAAAAGTGATATTTTGTTGTTTTAATTTTTATAGTATTAACGATTAGTGG GGATGAATATTATTCCAATGCCATGTATATCTATATATTTTGCTG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18981.hp2 NA18970.hp1 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0072 a0001c0002t0003g0110 a0001c0002t0003g0072 a0001c0002t0003g0110	2	242	0.0083	-744	c.119 others(19): Show c.1195-1955_1195-1212del	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	10/10			chr20	TogoVar
RIPK1_chr6_3063494_3120187	3092674	TAACCGCA others(737): Show TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02735.hp1 HG02027.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0116 a0001c0002t0002g0046 a0001c0001t0002g0116 a0001c0002t0002g0046	2	286	0.0070	-744	c.915 others(17): Show c.915+3150_915+3893del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092838	CGCGCCTA others(737): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp2 HG03540.hp1 others(1): Show HG01884.hp2 HG03486.hp2 HG03540.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0298 a0001c0002t0001g0195 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0298 a0001c0002t0001g0195 a0001c0002t0001g0317	4	329	0.0122	-744	c.915 others(17): Show c.915+3553_915+4296del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974893	CAGGGAAA others(737): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0065 a0002c0007t0001g0137 a0001c0001t0001g0065 a0002c0007t0001g0137	2	119	0.0168	-744	c.532 others(19): Show c.532-45700_532-44957del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976233	AGCCCAGG others(737): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0137 a0002c0007t0001g0137	1	128	0.0078	-744	c.532 others(19): Show c.532-47040_532-46297del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976305	AGCCCAGG others(737): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0105 a0002c0003t0001g0105	1	114	0.0088	-744	c.532 others(19): Show c.532-47112_532-46369del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ASMT_chrX_1610059_1648081	1638665	GTCCTGTG others(736): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	220	0.0045	-743	c.910 others(17): Show c.910+2120_910+2862del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640591	GAGGATGT others(736): Show GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG00099.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0127 a0001c0001t0001g0040 a0001c0001t0001g0127	2	221	0.0090	-743	c.911 others(17): Show c.911-2202_911-1460del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640601	GCACAGCC others(736): Show GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGTGGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	220	0.0045	-743	c.911 others(17): Show c.911-2184_911-1442del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	1461196	GCAGTCGC others(736): Show GCAGTCGCTGATTCGGTGGCCAGGAGGAGGGAGAAGGGTGGCATTTGGGT TGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGTCGCTGATTCGGTG GCCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTG TCACGTGGGCTGGGTGCAGTCACTGATTTGGTGGCCAGGAGGAGGGAGAA GGGCGGCGTTCAGGTTGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCA GTCGCTGATTCGGTGACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGG GAGAAGGTGCTGCTGTCACGTGGGCTGGGCACAGTCGCTGATTCGGTGGC CAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTGTC ACGTGGGCTGGGTGCAGTCGCTGATTCGGTGGCCAGGAGGAGGGAGAAGG GCGGCATTTGGGTTGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGT CGCTGATTCGGTGACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGA GAAGGTGCTGCTGTCACGTGGGCTGGGTGCAGTCACTGATTTGGTGGCCA GGAGGAGGGAGAAGGGCGGCGTTCAGGTTGGGAGAAGGTGCTGCTGTCAC AGGACTGGGTGCAGTCGCTGATTCGGTGACCAGGAGGAGGGAGAAGGGTG GCATTTGGGTTGGGAGAAGGTGCTGCTGTCACGTGGGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-743	c.107 others(19): Show c.107-40098_107-39356del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805525	TCCCCCCT others(736): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	-743	c.13 others(11): Show c.1360_*2102del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1239		chr2	TogoVar
GALNS_chr16_88808734_88861947	88851025	TTCTGAGG others(736): Show TTCTGAGGACAGCGTCCCAGGCTGCTGGGCCAGCTCTCATCTGCTGACCC TGTTCTTTCATTATTTATCGGCGCCTTTCTTGGCTATGAAAAGCAGGTGT GGACAGCCTCCCTGCAGAGTGAGCAGGTTACCATTGAACATCTAAAACCC CCACAGGGCACCACGGGCAGGAACCACCTTTCTTCTCTCCCTTAAAAGTC CTAAAAGGGCTGGATCCAGTGGTTCACGTCTGTTATCCCAACACTTTGGG AGGCTGAGGAGGGAGGATCGCTTGAGCTCAGGAAGTCAAGACCAACCTGG GTCTCACAGACAGACACTGTCACTAAAAAAAACTTTTTTTTTAATTAGCC GGGTGTGGGGATTCCGTTCCAACATGGCTGAATAGGAACAGCTCCGGGCT GCAGCTCCCAGCGTGATTGACGCAGAAGACGGCGATTTCTGCATTTCCAA CTGAGGTGCCTGGTTCATCCTACTGGGACTGGTTGGACAGTGAGTGCAGC CCATGGAGGGTGAGCCGAAGCAGGGTGGGGCATCGCCTCACTCAGGAAGT GCGAGGGGTTGGGGGATTTCCCTTTCCTAGCCAAGGGAAGCCGTGACAGA CTGCACCTGGAAAATCAGGACACTCCCGCCCAAATAGTGCGCTTTTCCAA CGGTCTTAGCTAACGACACACCAGGAGATTATATCCCGGGCCTGGCTCGG AGGGTCTCATGCCCACGGAGCCTTGCTCACTGCTAGCACAGCAG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	402	0.0025	-743	c.120 others(17): Show c.120+4990_120+5732del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	1/13			chr16	TogoVar
IDI1_chr10_1034419_1054119	1046827	CTGTCTAC others(736): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-743	c.140 others(17): Show c.140+1294_140+2036del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
METTL16_chr17_2411049_2516888	2500846	ATGGCTCA others(736): Show ATGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGCGGAT CACCTGAGGCCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACTCT GTCCCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGAGGCCTGT AGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACTCAGGA GGCAGAGGTTGCAGTGAGGCGAGACTGCACCACTGTACTCCACCCTGGGC AACAGAGACTCCGTCTCAAAAAAATAAAATAAAGTAAAAATAAAAAATCA ACTTTCTGGCTTGGTGTGGTGGCTGTAATCTCAGAACCTTGGGAGGCAAA GGAGGGAGGACCACTTGAATCTAGGCGTTTGAGACCAGCCTGGGCAATAT GACAAGACCTTGTCTCTACAAAAATAAAAATAAAAATAGCTAAGCATGGT AGGGCACACTTGGCTATTTTTATCTGGGGAGGCTGGGGCAGGAAGACAGC TTGAGCCCAGGAGTTCAATGCTATCACAAGCTATGACTGTGCCACTGCAC TCCAGCTTGGGCAACAGAGCAAGATCCTATCTCTAAAAACAAAATAAATA AATAAAAATAAATCAACTTCTTAAATTTAGTAACATCTTAAATAATAATA TCTGTGAAATCAGTCCTGATGTCCTGGTTATTATTTTCCTGCCTCACATC AAAATAAACACACACTTATTAAAATATCTTTAGGCCAGGCACAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	296	0.0034	-743	c.128 others(16): Show c.128+615_128+1357del	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	2/9			chr17	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(736): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18966.hp2 HG01496.hp2 NA18966.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0003 a0005c0009t0001 a0001c0001t0003 a0005c0009t0001	a0001c0001t0003g0011 a0005c0009t0001g0162 a0001c0001t0003g0011 a0005c0009t0001g0162	2	264	0.0076	-743	c.-37 others(11): Show c.-3752_-3010del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3667		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149661	ACTCCTAC others(736): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	203	0.0049	-743	c.901 others(15): Show c.901+770_902-574del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149885	CTACCACA others(736): Show CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	194	0.0052	-743	c.902 others(16): Show c.902-1012_902-270del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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