Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
FGFR2_chr10_121473332_121603444	121602994	TGCCTCCC others(443): Show TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCACT TAATTGTTTTTGTTTTGGTTTGGTTCGGTTTTTTGAGACAGGATCTTTCT CTGTCACCCAGACTGGAGGGCAGTGGCACAATCACAGCTCACTGCAGCCT CCAACTCCTGAGCTCACGCAAGCTTCCCACCTCAGCCTCCTGAGTAGCTG GGACTATAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTTGTA GAGACAGGGGTCTCATTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCT CAAGTGATCCTCCCTCCTTAGCCTCCCAAAGCACTGAGATTACAGGCGTG AGCCACCATGCCCAGCCTCGCTTAGACATTTTTATTCAGGTGGTCCTCAT GGTTTGGAGAAACTTTGACACACGAGCAAGTCTCTTGAGGATTACTATCC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	238	0.0042	-450	c.-56 others(11): Show c.-5633_-5184del	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding		4551		chr10	TogoVar
GALNT9_chr12_132191372_132334589	132241685	ATACCCAT others(443): Show ATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTA CACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACAC ACAACACACCCCCTTCCAGGGGCCGTCCCTATCCCCATTAAACACACAAC ACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCT TCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCTTCCCT G	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19056.hp1 NA19085.hp2 NA18945.hp1 NA19056.hp1 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177 a0001c0009t0002g0168 a0001c0009t0002g0174 a0001c0009t0002g0177	3	182	0.0165	-450	c.107 others(19): Show c.1077+5775_1077+6224del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242474	CCCCTTCC others(443): Show CCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCC CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACGCCATACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCGCACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACA CACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CGCACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACAACACAC A	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0175 a0001c0009t0002g0175	1	143	0.0070	-450	c.107 others(19): Show c.1077+4986_1077+5435del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132160573	TGGGGGGT others(443): Show TGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGAT GCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATG TCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCT GTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCC TGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTC TTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGG CCTCTCCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTAGGG GGTCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGG TGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGATGCT G	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0151 a0001c0006t0003g0151	1	114	0.0088	-450	c.222 others(19): Show c.2221-2629_2221-2180del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLK4_chr19_50901351_50916395	50914030	CTCTCTCT others(443): Show CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCACCT GTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTCTCTGTGTCTCTCT CCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGT CTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCT CTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCTCT CTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCACAT GTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCT GTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGT G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02258.hp1 others(8): Show HG01346.hp2 HG01361.hp2 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 others(4): Show a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0002t0004g0034 a0002c0003t0004g0007 a0002c0003t0005g0138	11	393	0.0280	-450	c.-31 others(11): Show c.-3153_-2704del	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2636		chr19	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(443): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCT C	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0145 a0001c0001t0014g0145	1	206	0.0049	-450	c.142 others(17): Show c.142-8663_142-8214del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024554	TGTGGGCG others(443): Show TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCAT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCA GCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGT CCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCT TCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG C	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	246	0.0041	-450	c.142 others(17): Show c.142-7597_142-7148del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(443): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA C	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0097 a0001c0001t0010g0097	1	12	0.0833	-450	c.292 others(19): Show c.292-25082_292-24633del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX3_chr17_79084345_79616051	79512091	AGTACAGC others(443): Show AGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACATGTTACCATTG GGTACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCG GATATAGCCCCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG GGTACAGCCCCATGGCCAGGGAACACCCACCCGGATACGTGTTACCATCG GATACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCG GGTACAGCCCCATAGCCAGGGGACGCACACCTGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG AGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACATGTTACCATCG G	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	152	0.0066	-450	c.-31 others(21): Show c.-319-29943_-319-29494del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF223_chr1_1065967_1079306	1076743	GCTACGGG others(443): Show GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGA CTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0045 a0008c0009t0001g0045	1	307	0.0033	-450	c.-31 others(11): Show c.-3187_-2738del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2438		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743854	GAGCCCTG others(443): Show GAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG AGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGC TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCC TGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAG CACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTA CTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCA C	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0019 a0001c0028t0019	a0001c0028t0019g0024 a0001c0028t0019g0024	1	116	0.0086	-450	c.655 others(18): Show c.655-10147_655-9698del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668415	TCCCTCTC others(443): Show TCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCT CTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCT CCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCT C	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20752.hp2 HG02074.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0028 a0001c0001 a0003c0028	a0001c0001t0001 a0003c0028t0001 a0001c0001t0001 a0003c0028t0001	a0001c0001t0001g0182 a0003c0028t0001g0111 a0001c0001t0001g0182 a0003c0028t0001g0111	2	255	0.0078	-450	c.249 others(19): Show c.2495+1719_2496-1546del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCML4_chr6_107697154_107829313	107710747	CTATAAAA others(443): Show CTATAAAACACCTCGTTGAGCTGTTGCAAGAATTAAATGGCATAATGTTG TAAAGCATTAAACAGGATTACTCATTAGGTAGTTGCTGTTCTTCTTATTA TGATGATGTCATTCCATAAATGGCCAGTAGATTTGTTTTCCTAAATCCCA GGGCCACCAGCTCACTCCCCTGTTCAGAAATGTCTGGTTTACAGTTACTA CAGAGCAAAGTCCCATCTGCTTGAAATGGATCCCAAACCTCCCAGCATGG TTTCCCTGGTGTCCCTGCACAAACTCTTTTTTTTTTTTTGAGATGAAGTC CCGCTTTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTGTTCACAGCT CTGTCCTCAGATGTGAGAAGAGCCCCTGGCACACTGTGCCCAGGAAGTCT CTGCTGGCTAGGACCAACCAAAACCTGAGTCTTAACTGCCTGCTCTATAA A	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(178): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0004 a0002c0014 a0002c0016 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0009 a0001c0002t0010 a0001c0003t0012 a0001c0003t0015 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0008t0001 a0001c0008t0008 a0001c0009t0001 a0001c0009t0004 a0001c0011t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0014 a0002c0004t0021 a0002c0004t0028 a0002c0014t0011 a0002c0016t0011 a0003c0013t0004	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0069 others(177): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0093 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0127 a0001c0001t0003g0190 a0001c0001t0004g0023 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0070 a0001c0001t0004g0078 a0001c0001t0004g0087 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0139 a0001c0001t0004g0158 a0001c0001t0006g0001 a0001c0001t0006g0046 a0001c0001t0006g0113 a0001c0001t0006g0146 a0001c0001t0006g0173 a0001c0001t0006g0189 a0001c0001t0006g0192 a0001c0001t0006g0197 a0001c0001t0006g0203 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0218 a0001c0001t0006g0221 a0001c0001t0006g0232 a0001c0001t0006g0245 a0001c0001t0008g0170 a0001c0001t0008g0177 a0001c0001t0008g0184 a0001c0001t0008g0191 a0001c0001t0008g0207 a0001c0001t0008g0210 a0001c0001t0008g0222 a0001c0001t0008g0225 a0001c0001t0008g0230 a0001c0001t0008g0237 a0001c0001t0008g0243 a0001c0001t0010g0083 a0001c0001t0010g0085 a0001c0001t0013g0011 a0001c0001t0013g0066 a0001c0001t0013g0073 a0001c0001t0013g0119 a0001c0001t0013g0121 a0001c0001t0013g0125 a0001c0001t0013g0157 a0001c0001t0014g0012 a0001c0001t0014g0054 a0001c0001t0014g0126 a0001c0001t0014g0129 a0001c0001t0019g0076 a0001c0001t0019g0138 a0001c0001t0022g0014 a0001c0001t0024g0106 a0001c0001t0025g0122 a0001c0001t0027g0143 a0001c0002t0009g0110 a0001c0002t0010g0009 a0001c0002t0010g0065 a0001c0002t0010g0130 a0001c0002t0010g0135 a0001c0002t0010g0149 a0001c0003t0012g0108 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0134 a0001c0003t0012g0136 a0001c0003t0012g0137 a0001c0003t0012g0145 a0001c0003t0015g0124 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0003t0015g0163 a0001c0005t0005g0182 a0001c0005t0011g0039 a0001c0005t0011g0082 a0001c0005t0011g0095 a0001c0005t0011g0096 a0001c0005t0011g0098 a0001c0005t0011g0172 a0001c0005t0017g0196 a0001c0005t0017g0223 a0001c0005t0018g0206 a0001c0005t0018g0213 a0001c0005t0030g0080 a0001c0008t0001g0005 a0001c0008t0001g0071 a0001c0008t0001g0249 a0001c0008t0008g0114 a0001c0009t0001g0140 a0001c0009t0004g0059 a0001c0009t0004g0062 a0001c0011t0001g0004 a0001c0011t0001g0072 a0002c0004t0001g0026 a0002c0004t0002g0235 a0002c0004t0003g0020 a0002c0004t0003g0092 a0002c0004t0004g0019 a0002c0004t0005g0239 a0002c0004t0006g0185 a0002c0004t0006g0224 a0002c0004t0009g0102 a0002c0004t0009g0103 a0002c0004t0009g0176 a0002c0004t0014g0017 a0002c0004t0021g0242 a0002c0004t0028g0089 a0002c0014t0011g0029 a0002c0016t0011g0018 a0003c0013t0004g0038	181	248	0.7298	-450	c.974 others(17): Show c.974-3186_974-2737del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	6/7			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1061002	AGGATCCC others(443): Show AGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTC TCACCCGCCGCACCCGCCGCACCTGCCGCATCCGCCATGCGGAACCCCTG CGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCGCCG CACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGG GATCCCTGCGTCTCACCCACCGCACCCGCCGTACCTGCCGCATCCGCCAT GCGGAACCCCTGCGTCTCACCCACCGCACCTGCCGTGCAGGATCCCTGAG TCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCA CCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTACCTGC CGCATCCGCCATGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGC G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01106.hp1 others(23): Show HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01517.hp2 HG01993.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG03710.hp1 HG03927.hp1 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0001c0013 others(6): Show a0001c0005 a0001c0009 a0001c0013 a0001c0028 a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0034	a0001c0005t0002 a0001c0009t0002 a0001c0013t0003 others(7): Show a0001c0005t0002 a0001c0009t0002 a0001c0013t0003 a0001c0013t0007 a0001c0028t0002 a0002c0002t0002 a0002c0008t0002 a0002c0011t0002 a0002c0024t0002 a0002c0034t0002	a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 others(23): Show a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0009t0002g0114 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0028t0002g0107 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0008t0002g0062 a0002c0008t0002g0063 a0002c0008t0002g0068 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0002c0024t0002g0060 a0002c0034t0002g0091	26	86	0.3023	-450	c.274 others(18): Show c.2740-1001_2740-552del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071003	CCCCCAGC others(443): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAG TGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA G	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	114	0.0088	-450	c.224 others(19): Show c.2241+2180_2241+2629del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
VPS53_chr17_503668_719839	617527	AGGTAGCT others(443): Show AGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCATCAGGCCCCGCTATTATTTCCC AGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCCCGCTATTATTTCCC AGGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCACTAATGTTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC G	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	230	0.0043	-450	c.111 others(19): Show c.1116+5556_1116+6005del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
AFAP1L2_chr10_114289824_114409502	114305866	GCAGGAGG others(442): Show GCAGGAGGGGGCGCAGGGGCAGGAGGGGACGCGGGTGCAGGAGGGGACAC AGGTGCAGGAGGGGACGGGGCTGCAGGAGGAGATGCAGATGCAGGGGGGG TGCAGGTACAGGAGGGGTCGGGGCTGCAGGAGGGGACGCAGATGCAGGAG GGGACGCAGATGCAGGAGGGGACACAGATGCAGAAGGGGGCGCAGATGCA NGAAGCGACGGGGCTGCAGAAGGAGATGCAGATGCAGGAAGGGATGCAGA TGCCTGGAGGGATGCAGGTGCAGGAGGGGACGGGGCTGCAGGACGGGATG GGGCTGCAGGAGGGAGCGGGGCTGCAGGAGGGGATGGGGCTACAGGAGGA GATGCAGATGCAGGAGGGGGTGCACGTACAGGACTGGTCGGGGCTGCAGG AGGGGACGCAGATGCAGGAGGCGTCGGGGCTGCAGGAGGGGACGCAGATC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0207 a0003c0007t0006g0207	1	260	0.0038	-449	c.107 others(18): Show c.1073-1385_1073-937del	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AHRR_chr5_316714_443285	391488	GGGCGCAG others(442): Show GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCA GGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	265	0.0038	-449	c.351 others(19): Show c.351+14782_351+15230del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DIP2C_chr10_269201_694668	417746	TCGGATAG others(442): Show TCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGC CTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCAC CTGCACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCA GGGCTTCGATAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGG CATCCCCGTCCACCTGTCGGAGCTCGGATAGGCCTCCCTGTCCACCTGCA CCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0006 a0001c0005t0002g0006	1	80	0.0125	-449	c.739 others(16): Show c.739+870_739+1318del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
ERC1_chr12_986223_1500931	1090383	TATTATTG others(442): Show TATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02615.hp1 others(7): Show HG01884.hp1 HG01891.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp1 HG03579.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 others(7): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0002c0002t0022 a0002c0002t0028 a0002c0002t0040 a0002c0002t0046 a0002c0002t0054 a0007c0012t0013 a0008c0011t0007	a0001c0001t0006g0120 a0001c0001t0009g0078 a0001c0001t0018g0080 others(7): Show a0001c0001t0006g0120 a0001c0001t0009g0078 a0001c0001t0018g0080 a0002c0002t0022g0075 a0002c0002t0028g0097 a0002c0002t0040g0070 a0002c0002t0046g0069 a0002c0002t0054g0076 a0007c0012t0013g0067 a0008c0011t0007g0068	10	160	0.0625	-449	c.108 others(19): Show c.1086+6810_1086+7258del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDFI_chr6_41633468_41659244	41651096	ACTCCGGA others(442): Show ACTCCGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCCGAGATTGCAC TCCAGCCTGGGCAACAAGAGCAAAACTTTGTCTCAAAGAAAAATAAAATG AAATGTCCTAGGCACCTGCTATGTGCTGGAAACCTGGTTCATGACCTCAT AAAGCTCTCATGAGAGACGTAGATAGGTAATCGCCATACGATGTGATAAG TGCAATGATAAACTCATGCAGAGGATTACGCAAACACAGGGGGACCACTC ACACCAGCCCAGAAATCTGGGGAGGGAATCCTGGGAAGGCTTGGAGGTGA TGTCTGAACATGCCTTAAAAGACCAGAAGGAGGCTCCAGCCAGGAGAGCA TGCGCACAGAGCTGAGAAATGGCCAGTGTGGCTGGAGGGTGAACTGCCAA AGGTGAGACTCCTAGCAGGCAGGGGTCCTGGGAGGTCCTTACCAACCAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00738.hp2 others(29): Show HG00423.hp1 HG00544.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA19043.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0003c0005t0008	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0066 others(21): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0002g0020 a0001c0001t0002g0064 a0001c0001t0002g0145 a0001c0001t0002g0198 a0001c0001t0003g0278 a0001c0001t0020g0263 a0003c0005t0008g0073 a0003c0005t0008g0293	32	460	0.0696	-449	c.484 others(17): Show c.484+1255_484+1703del	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLPH_chr2_237482251_237560322	237542943	GACAGTGG others(442): Show GACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGG GGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAGTG GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAG TAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAG TGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGAC AGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	241	0.0041	-449	c.153 others(17): Show c.1539+300_1539+748del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241806596	TCCGCAGG others(442): Show TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0189 a0008c0014t0003g0189	1	318	0.0031	-449	c.-26 others(11): Show c.-2681_-2233del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2596		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31510970	AACATATG others(442): Show AACATATGTATATCTATATGTAACATATGTATATCTATATGTAACATACA TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	244	0.0041	-449	c.894 others(17): Show c.894-7601_894-7153del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	78970478	CATGGTCC others(442): Show CATGGTCCTAAGGACAAAGTCCCTGATCCCAGCTATGCGGGAGGCTGAGA CAGAAGAATTGATTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATT GTACCACTGCAGTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAA AAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGTCATAGGAT TGGGAGCCCAAGAGTCTGGGTTAGCAAATCTGTTATTTTATCTGTAAAAT GGGGCCTACAGTACAGGCTTTGAATAATGTAATGAGACTAACATGCCAAC CATTCTTTTTTATTAAACAATTTTTTTTTCTTTTTGGCTAGCTGAGACTT TTTTTTTTTTTTTTCAGACCAACCATTCTCTTACATGGCCTTGCAAATCT TTTAAAAATGCAAACTAGTCCAATTATATAACCTCCTTTCAGGGCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	312	0.0032	-449	c.368 others(18): Show c.3681+939_3681+1387del	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	26/26			chr15	TogoVar
SDHA_chr5_213320_262082	261382	GCCTCCCG others(442): Show GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01517.hp2 others(1): Show HG01243.hp1 HG01256.hp1 HG01517.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090	4	264	0.0152	-449	c.49 others(11): Show c.4963_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4301		chr5	TogoVar
SMYD3_chr1_245744347_246512279	246071835	TCCTGTTA others(442): Show TCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGT CGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGC TCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCC ACTGTGCTCACTGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTG CTTTCCGCTGTGCTCACTGTGGATGCATCGTGTAGTTCTGGGGAGGGATT CGTGTGCTTTCCGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGG AGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGT TCGGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCC TGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0128 a0002c0004t0001g0128	1	150	0.0067	-449	c.532 others(21): Show c.532-142347_532-141899del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129856463	GGAGTCCG others(442): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGAT GGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTC CAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	76	0.0132	-449	c.79+ others(17): Show c.79+46349_79+46797del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSPAN14_chr10_80449310_80527631	80482350	AATCTCAG others(442): Show AATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTG CCTCAACCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGACCAGG CTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAG AGTGCTGTGATTATAGGCATGAACCACTGTGCCCGGCCTCCACAAAACTC ATTTTAGTTGTGCATGTGAGTGTGCGTGTGCACTGGATTGACTTTTGTTA AATGTATTTCTTACTATGGGTTGTGATAAGATTTGAAAACCCTTGTTTAG TGGTTTCTCATTGTCAGTTCACTTTTCTTTTCCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02970.hp2 HG02976.hp1 others(4): Show HG01433.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0089 others(4): Show a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0013g0115 a0001c0001t0019g0109 a0001c0001t0019g0116 a0001c0001t0019g0214	7	250	0.0280	-449	c.-17 others(17): Show c.-17-6861_-17-6413del	TSPAN14	ENSG00000108219.16	transcript	ENST00000429989.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR20_chr14_102134897_102215527	102172218	TGGGGGGT others(442): Show TGGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTC TTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTGCTTCTTTCCACACA GACACAGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTT TCTATTCCACAAAACCACCATTGTCATCATGGCCCGTTCTCAATGAGCTG TTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCTGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04115.hp1 NA21309.hp1 HG00140.hp1 HG04115.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256	3	262	0.0115	-449	c.250 others(19): Show c.250-22719_250-22271del	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2			chr14	TogoVar
ABR_chr17_998519_1184981	1131492	CCTTTGCA others(441): Show CCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTT GCACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACAC CAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATG CAGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCC TGCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCAC GCGCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGC ACAGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGC TCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCC CCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	332	0.0030	-448	c.62- others(15): Show c.62-6573_62-6126del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
CTDP1_chr18_79674803_79759503	79745511	CCCCGCGT others(441): Show CCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG CGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGT CCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18943.hp1 NA18950.hp2 others(3): Show HG02080.hp2 NA18943.hp1 NA18950.hp2 NA18961.hp2 NA18968.hp2 NA19007.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0003 a0003c0005 a0016c0034 a0001c0003 a0003c0005 a0016c0034	a0001c0003t0001 a0003c0005t0002 a0016c0034t0002 a0001c0003t0001 a0003c0005t0002 a0016c0034t0002	a0001c0003t0001g0048 a0001c0003t0001g0049 a0003c0005t0002g0118 others(3): Show a0001c0003t0001g0048 a0001c0003t0001g0049 a0003c0005t0002g0118 a0003c0005t0002g0126 a0003c0005t0002g0127 a0016c0034t0002g0117	6	344	0.0174	-448	c.274 others(19): Show c.2748-8121_2748-7674del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DNHD1_chr11_6492280_6577020	6551833	CGGGAGGC others(441): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAAGTTGCG GTGAGCTGAGATTTGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGAC TCCGTCTCCAAAAAAAAAAAGGGGAGCCAGGCATGGTGGCATGCACCTGT AATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGGATTTCTTAAGGCC AGGAGTTCAAGACCAGCCTGGGCAGCATAGTGGGACCCTCATTTAAAAAA AAAAGTTTTAAAAAATGGATAATAAGGGAAAATTATGAAAAACTTTATGC TAATAAATTTAGCAACTTAGGTGAAATGGATACATGCTGTATTAGTCTGT TTTCACACTGCAATAAAGAACTACTTGAGACTGGGTAATTCATAAAGAAA AGAGGGTTAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01943.hp2 HG02257.hp2 others(17): Show HG01358.hp1 HG01943.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG04184.hp2 HG04204.hp1 NA19043.hp1 NA20129.hp1	a0008 a0012 a0016 others(7): Show a0008 a0012 a0016 a0025 a0026 a0036 a0060 a0086 a0090 a0112	a0008c0103 a0012c0006 a0012c0071 others(9): Show a0008c0103 a0012c0006 a0012c0071 a0016c0028 a0016c0069 a0025c0017 a0026c0019 a0036c0026 a0060c0121 a0086c0082 a0090c0076 a0112c0084	a0008c0103t0001 a0012c0006t0001 a0012c0071t0001 others(9): Show a0008c0103t0001 a0012c0006t0001 a0012c0071t0001 a0016c0028t0001 a0016c0069t0001 a0025c0017t0001 a0026c0019t0001 a0036c0026t0001 a0060c0121t0002 a0086c0082t0001 a0090c0076t0001 a0112c0084t0001	a0008c0103t0001g0202 a0012c0006t0001g0322 a0012c0006t0001g0323 others(17): Show a0008c0103t0001g0202 a0012c0006t0001g0322 a0012c0006t0001g0323 a0012c0006t0001g0325 a0012c0006t0001g0327 a0012c0006t0001g0328 a0012c0006t0001g0329 a0012c0071t0001g0265 a0016c0028t0001g0267 a0016c0028t0001g0305 a0016c0069t0001g0266 a0025c0017t0001g0246 a0025c0017t0001g0247 a0025c0017t0001g0248 a0026c0019t0001g0308 a0036c0026t0001g0206 a0060c0121t0002g0067 a0086c0082t0001g0233 a0090c0076t0001g0321 a0112c0084t0001g0213	20	340	0.0588	-448	c.738 others(19): Show c.7387+2917_7387+3364del	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	GTGTCACT others(441): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	152	0.0066	-448	c.35 others(9): Show c.355_*802del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	355		chr2	TogoVar
LETMD1_chr12_51043327_51065424	51044307	TGGCCTCC others(441): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCATGGACCACTGCGCCAAGCCT AAGTTTTATATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTA GTCTTGAACTCCTGACCTCAGGTGATTTGCCTGCCTCAGCTTCCCAAAGT GCTGGGATTACAGGTGTGAGTCACTGTGCCCAGCCCACAGCCTTTTGTTT GTTTGTTTTTTGAGACACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAA TGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTAAAGTGATT CTCCTGCCTCAGCCTCCTGAGTAGCTGCAGCTGGGATTATAGGCACGCAC CACCATGCCCGGCTAATTTTTGTATTTTTAGAAGAGATGGGGTTTCACCA TGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCGCCCGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02698.hp1 HG00140.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0068 a0001c0001t0006g0069	2	414	0.0048	-448	c.-40 others(11): Show c.-4049_-3602del	LETMD1	ENSG00000050426.16	transcript	ENST00000262055.9	protein_coding		4019		chr12	TogoVar
LYRM4_chr6_5103419_5265950	5134973	GCTCCCGG others(441): Show GCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTG CGGATCGCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGG AGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGA CTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTC CCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGG TGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGT GGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGG GGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01069.hp1 others(41): Show HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01515.hp2 HG01884.hp1 HG01952.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0005 others(2): Show a0001c0001t0004 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009	a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0004g0047 others(41): Show a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0070 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0111 a0001c0001t0004g0183 a0001c0001t0004g0184 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0012 a0002c0002t0004g0013 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0005g0252 a0002c0002t0005g0254 a0002c0002t0005g0256 a0002c0002t0005g0257 a0002c0002t0005g0258 a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0008g0209 a0002c0002t0008g0214 a0002c0002t0008g0232 a0002c0002t0008g0260 a0002c0002t0008g0261 a0002c0002t0008g0262 a0002c0002t0008g0263 a0002c0002t0008g0264 a0002c0002t0008g0276 a0002c0002t0009g0280 a0002c0002t0009g0281 a0002c0002t0009g0282 a0002c0002t0009g0283 a0002c0002t0009g0285	44	283	0.1555	-448	c.208 others(19): Show c.208-25930_208-25483del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135057	GCTCCCGG others(441): Show GCTCCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGG AGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGG CTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTC CCGGGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGG TGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGT GGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGG GACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01081.hp1 others(40): Show HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02451.hp1 HG02559.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18993.hp1 NA19003.hp1 NA19043.hp1 NA19065.hp1 NA19078.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0020	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 others(40): Show a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0130 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0185 a0001c0001t0004g0180 a0001c0001t0007g0096 a0001c0001t0007g0098 a0001c0001t0007g0175 a0001c0001t0011g0066 a0001c0001t0011g0172 a0001c0001t0011g0178 a0001c0001t0012g0174 a0001c0001t0012g0177 a0001c0001t0017g0192 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0005g0242 a0002c0002t0005g0255 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0006g0201 a0002c0002t0006g0267 a0002c0002t0009g0284 a0002c0002t0010g0187 a0002c0002t0020g0286	43	259	0.1660	-448	c.208 others(19): Show c.208-26014_208-25567del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(441): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG02922.hp1 others(6): Show HG00099.hp1 HG00642.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp1 NA19012.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0185 others(6): Show a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0217 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0003t0001g0039	9	132	0.0682	-448	c.141 others(21): Show c.1416+10332_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(441): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18978.hp2 NA19003.hp1 others(1): Show NA18957.hp2 NA18978.hp2 NA19003.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0001c0001t0001 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0104 a0001c0001t0001g0306 a0001c0003t0001g0265 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0306 a0001c0003t0001g0265 a0002c0002t0002g0029	4	208	0.0192	-448	c.981 others(17): Show c.981+1906_981+2353del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCDH15_chr10_53797771_54806231	54133924	ACATTTTG others(441): Show ACATTTTGTACAAACATACCACCACTGCCTAAGATGTATGCTTTGAATTT AACAAAGTCATGATTTAGTTCAAAACACATTTGTTATAATTTCTATTTGG GGATGAGAATCTTTATTTATTTATTTATTTATTTATTTGAGACGGAGAGT TGCTCTCCAGCCCAGGCTGGAGTGCAGTGGCATGATCTTTGCTCATTGCA ACCCCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCCTGTGTCAAAATATCTGGCTAATTTTTGTATTTTC AGTGGAGATGGGTTGTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCCTCCTCAACCTCCCAAAGTGCTGGGATAACAGGTA TGAGCACCACACCTGGCCTAGAATCTCCTTAAAGTAGTCCCAAACTCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01167.hp2 others(17): Show HG00738.hp2 HG00741.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG02027.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 NA18945.hp1 NA18945.hp2 NA19088.hp2 NA20905.hp2	a0001 a0004 a0006 others(7): Show a0001 a0004 a0006 a0007 a0009 a0011 a0021 a0026 a0031 a0033	a0001c0001 a0004c0004 a0006c0006 others(7): Show a0001c0001 a0004c0004 a0006c0006 a0007c0032 a0009c0008 a0011c0038 a0021c0030 a0026c0015 a0031c0017 a0033c0037	a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 others(14): Show a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0006 a0004c0004t0025 a0006c0006t0002 a0006c0006t0005 a0006c0006t0006 a0006c0006t0010 a0007c0032t0001 a0009c0008t0001 a0011c0038t0001 a0021c0030t0018 a0026c0015t0001 a0031c0017t0002 a0033c0037t0013	a0001c0001t0003g0019 a0004c0004t0001g0045 a0004c0004t0001g0052 others(17): Show a0001c0001t0003g0019 a0004c0004t0001g0045 a0004c0004t0001g0052 a0004c0004t0002g0096 a0004c0004t0005g0027 a0004c0004t0005g0028 a0004c0004t0005g0054 a0004c0004t0006g0029 a0004c0004t0025g0037 a0006c0006t0002g0051 a0006c0006t0005g0059 a0006c0006t0006g0044 a0006c0006t0010g0024 a0007c0032t0001g0021 a0009c0008t0001g0048 a0011c0038t0001g0039 a0021c0030t0018g0007 a0026c0015t0001g0025 a0031c0017t0002g0072 a0033c0037t0013g0064	20	100	0.2000	-448	c.178 others(18): Show c.1785-1365_1785-918del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54133924	ACATTTTG others(441): Show ACATTTTGTACAAACATACCACCACTGCCTAAGATGTATGCTTTGAATTT AACAAAGTCATGATTTAGTTCAAAACACATTTGTTATAATTTCTATTTGG GGATGAGAATCTTTATTTATTTATTTATTTATTTATTTGAGACGGAGAGT TGCTCTCCAGCCCAGGCTGGAGTGCAGTGGCATGATCTTTGCTCATTGCA ACCCCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCCTGTGTCAAAATATCTGGCTAATTTTTGTATTTTC AGTGGAGATGGGTTGTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCCTCCTCAACCTCCCAAAGTGCTGGGATAACAGGTA TGAGCACCACACCTGGCCTAGAATCTCCTTAAAGTAGTCCCAAACTCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01175.hp1 others(16): Show HG00738.hp1 HG00741.hp1 HG01175.hp1 HG01261.hp2 HG02027.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 NA18945.hp1 NA18945.hp2 NA19088.hp2 NA20905.hp1	a0001 a0004 a0006 others(5): Show a0001 a0004 a0006 a0009 a0017 a0018 a0024 a0027	a0001c0001 a0004c0004 a0004c0043 others(7): Show a0001c0001 a0004c0004 a0004c0043 a0006c0008 a0006c0041 a0009c0019 a0017c0037 a0018c0017 a0024c0021 a0027c0042	a0001c0001t0001 a0004c0004t0001 a0004c0004t0005 others(8): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0005 a0004c0043t0001 a0006c0008t0001 a0006c0041t0001 a0009c0019t0001 a0017c0037t0004 a0018c0017t0001 a0024c0021t0001 a0027c0042t0004	a0001c0001t0001g0019 a0001c0001t0001g0021 a0004c0004t0001g0026 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0036 a0004c0004t0001g0042 a0004c0004t0001g0049 a0004c0004t0001g0051 a0004c0004t0005g0034 a0004c0043t0001g0088 a0006c0008t0001g0023 a0006c0008t0001g0041 a0006c0008t0001g0055 a0006c0041t0001g0048 a0009c0019t0001g0045 a0017c0037t0004g0007 a0018c0017t0001g0024 a0024c0021t0001g0066 a0027c0042t0004g0060	19	92	0.2065	-448	c.178 others(18): Show c.1785-1365_1785-918del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PLCXD1_chrX_276381_308356	277521	TGGACACC others(441): Show TGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAG GGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGA TGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGT GGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAGG GCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGAT GTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGT GGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACATGGGGACA GGTGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATG TGAGGGGAGGGGTCAGGGGGAACGTGGGGACAGGTGTGGGGATAGGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(24): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG01346.hp2 HG01993.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG03017.hp1 HG03195.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp2 NA18955.hp1 NA18956.hp2 NA18992.hp1 NA18998.hp2 NA19006.hp1 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0044 a0001c0001t0047 a0001c0001t0078 a0001c0001t0086 a0001c0001t0089 a0001c0002t0004 a0001c0002t0049 a0001c0010t0041	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0084 others(24): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0004g0025 a0001c0001t0004g0110 a0001c0001t0005g0095 a0001c0001t0005g0098 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0097 a0001c0001t0011g0091 a0001c0001t0015g0055 a0001c0001t0017g0099 a0001c0001t0019g0090 a0001c0001t0022g0100 a0001c0001t0044g0024 a0001c0001t0047g0023 a0001c0001t0078g0093 a0001c0001t0086g0088 a0001c0001t0089g0096 a0001c0002t0004g0122 a0001c0002t0049g0018 a0001c0010t0041g0167	27	145	0.1862	-448	c.-41 others(11): Show c.-4184_-3737del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3859		chrX	TogoVar
PPARA_chr22_46145526_46248755	46174203	AGAGAGAG others(441): Show AGAGAGAGAGAGAGAGGGAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAATTATGATAAAGCAGATGGTTAAGTT GGTAACTACCAGTGAATATGGGTAAAGTTAGGATGTTCTTTACTCTGTTT TGGGGGTGCAACTTTTCTATAAGTGAAAGTACTTCCAAATAAAAAGTTAA AAGGCAAGCAAATAAATAAAAGAGACAGTTTCTATGTTATATATCCTAGC TATGTTTACCATGTCTGGATTCTGAAAGCTGCAGAGCAGAAAACCTGAAG AACAGATCACCTGTTCTTAAAATACCACTGTTGGCCAGACATAGTAACTC ACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACCTGA GCTCAGGAGTTTGAGAACAGCCTGGGAAACATAGTGAGACCCTGTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0030 a0001c0001t0065g0030	1	198	0.0051	-448	c.-12 others(19): Show c.-126-2549_-126-2102del	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8			chr22	TogoVar
PRDM15_chr21_41793225_41884344	41806309	ACCACCAC others(441): Show ACCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCAC CACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCATCACCACCACCCATCAC CATCACCACCAGCACCACCCATTACTACCACCACCATCACCACCATCACC ATCACCACCACCATCACCACCACCATCACTACCACCAACATCACCACCAT CACCATCACCATACCACCACCATCACCACCACCACCATTACTACCACCAC CATCATCACCACCATCATCACCACCACCACCATCACCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCCATCACTAC CACCAACATCACCACCATCACCATCACCATACCACCACCATCACCACCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03516.hp1 HG02622.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0001 a0001c0005t0009g0330 a0001c0005t0009g0001 a0001c0005t0009g0330	3	403	0.0074	-448	c.265 others(19): Show c.2653-2143_2653-1696del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RAB40C_chr16_585066_634268	611628	CAGGGACA others(441): Show CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGAGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGC CGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAG AATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGA CAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTTGCCT GTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 NA18906.hp2 HG02622.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154	3	348	0.0086	-448	c.143 others(17): Show c.143-5543_143-5096del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF223_chr1_1065967_1079306	1076227	TGGCTGAG others(441): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	2	291	0.0069	-448	c.-26 others(11): Show c.-2669_-2222del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280986	TCAGTCAC others(441): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTC ACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACC TCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCAC CTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTC CTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA21309.hp1 HG02071.hp2 NA21309.hp1	a0003 a0011 a0003 a0011	a0003c0001 a0011c0058 a0003c0001 a0011c0058	a0003c0001t0001 a0011c0058t0005 a0003c0001t0001 a0011c0058t0005	a0003c0001t0001g0225 a0011c0058t0005g0262 a0003c0001t0001g0225 a0011c0058t0005g0262	2	221	0.0090	-448	c.484 others(18): Show c.484+9612_484+10059del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	260529	CAGCATTA others(441): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCG CCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	249	0.0040	-448	c.41 others(11): Show c.4110_*4557del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3448		chr5	TogoVar
SDHA_chr5_213320_262082	260817	GAGCATTA others(441): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	183	0.0055	-448	c.43 others(11): Show c.4398_*4845del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3736		chr5	TogoVar
SOX5_chr12_23524504_23954670	23837363	ATATATTT others(441): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAA TATATAAGATATATTTATATTTATATAATATATAAGCTATATTTATATTT ATATAATATATAAGCTATATTTATATTTATATAATATATAAGCTATATTT ATATTTATATAATATATAAGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	207	0.0048	-448	c.481 others(17): Show c.481+8172_481+8619del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar

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