Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TNFRSF10D_chr8_23130588_23169027	23165517	CGCCAGGT others(145): Show CGCCAGGTTTCAGGCACTGAGCTAGACTCAGAAATGTGTGTCAGGCCCCA GGCACTGAGCTAGGGTCAGAAATGTGTGTCAGGCCCCAGGCACTGAGCTA GGGTCAGAAATGTGCGCCAGGTTCCAGGCACTGAGCTAGGGTCAGAAATG TGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0134 a0007c0019t0001g0134	1	444	0.0023	-152	c.-17 others(11): Show c.-1734_-1583del	TNFRSF10D	ENSG00000173530.6	transcript	ENST00000312584.4	protein_coding		1491		chr8	TogoVar
TNK2_chr3_195858364_195913551	195880975	CCGCCCCC others(145): Show CCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAAC ACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTA ACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTA ACA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0058 a0003c0005t0001g0058	1	372	0.0027	-152	c.887 others(16): Show c.887+924_887+1075del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881134	CAGCAGTG others(145): Show CAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCC CAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACCCGCC CCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACACCAC CCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0059 a0010c0059	a0010c0059t0001 a0010c0059t0001	a0010c0059t0001g0021 a0010c0059t0001g0021	1	372	0.0027	-152	c.887 others(15): Show c.887+765_887+916del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195881229	CCGCCCCC others(145): Show CCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAAC ACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTA ACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTA ACA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	372	0.0027	-152	c.887 others(15): Show c.887+670_887+821del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TOX_chr8_58800412_59124147	58949872	ATAATATA others(145): Show ATAATATACAATTACATGTGTATAGTTCATATACACGTGTAATATACAAT TACATGTGTATAGTTCATATACACGTGTAATATACAATTACATGTGTATA GTTCATATACACGTGTAATATACAATTACATGTGTATAGTTCATATACAC GTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01192.hp1 others(4): Show HG00642.hp1 HG01074.hp1 HG01192.hp1 HG01496.hp1 HG02004.hp2 NA18945.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0002g0045 a0001c0001t0002g0178 a0001c0001t0003g0070 a0002c0005t0001g0022	7	224	0.0313	-152	c.168 others(18): Show c.168+9919_168+10070del	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	2/8			chr8	TogoVar
TPO_chr2_1408463_1548673	1490229	CAGGGGGA others(145): Show CAGGGGGAGTCACGACACAGCAGTGTAAGAGCTGCCACGTGGGTCCCACA CAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACA CAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACA CAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0097 a0003c0006t0004g0097	1	130	0.0077	-152	c.176 others(19): Show c.1768+2239_1768+2390del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16			chr2	TogoVar
UNC13B_chr9_35157009_35410335	35373592	CCCCTGTG others(145): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGC AAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATG GGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0129 a0007c0009t0001g0129	1	224	0.0045	-152	c.954 others(19): Show c.9541-1531_9541-1380del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UVRAG_chr11_75810210_76149232	75955660	GAGGCTGA others(145): Show GAGGCTGAGGCGGAAGGATGGCTTGAGGCCAGGAGTTTGAGATAAGCCTG GGCATAGCGAGACTCTGTCTCTACAAAAAATTAGTCGGACCCAGTTGCAC GCTCCTGTAGTCCAGCTACTCAGAAGGCTGAGGCAGGAAGATCCCTTAAG TCC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18990.hp1 NA18961.hp1 NA18990.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0002 a0003c0006t0010 a0002c0002t0002 a0003c0006t0010	a0002c0002t0002g0105 a0003c0006t0010g0104 a0002c0002t0002g0105 a0003c0006t0010g0104	2	146	0.0137	-152	c.594 others(17): Show c.594-5780_594-5629del	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VCX3A_chrX_6528618_6540118	6532994	CCTCTTCC others(145): Show CCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0012 a0013c0011t0012	a0013c0011t0012g0012 a0013c0011t0012g0012	1	74	0.0135	-152	c.59 others(9): Show c.599_*750del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		623		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159088856	AGCTCCTC others(145): Show AGCTCCTCATCTGGGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	336	0.0030	-152	c.357 others(19): Show c.357+14749_357+14900del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WRAP73_chr1_3625770_3655103	3643773	GCCCCGGA others(145): Show GCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTG AGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCT GAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGC TGA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	382	0.0026	-152	c.339 others(17): Show c.339+2741_339+2892del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XXYLT1_chr3_195063284_195276159	195272795	AAAAGTAG others(145): Show AAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAG GCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGC CGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGT CTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0114 a0001c0001t0012g0114	1	198	0.0051	-152	c.-18 others(11): Show c.-1889_-1738del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1637		chr3	TogoVar
ZBTB42_chr14_104796101_104809712	104807563	CAACAAGG others(145): Show CAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	-152	c.50 others(11): Show c.5098_*5249del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		2852		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104807920	GAGCACCC others(145): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02129.hp2 HG02135.hp1 others(8): Show HG00621.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 NA18951.hp1 NA18971.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19065.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0005	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0006g0000 a0002c0002t0005g0000	11	99	0.1111	-152	c.54 others(11): Show c.5455_*5606del	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3209		chr14	TogoVar
ZNF268_chr12_133176495_133219832	133194919	ACATTAAT others(145): Show ACATTAATACAAGTCTAGGATCCTGTTCCCATTCAGAGTGGGGAGTAGTT CTTTATGGTCTATAGACCTATAATTAAAGATAAATTAAACACATCCAGCC ATCCAAATGTAGAGGGATAGAGACAAGTCTAGGGTCCCCCAGTTCCAGGA GGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00639.hp2 others(96): Show HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18966.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1	a0002 a0006 a0007 others(3): Show a0002 a0006 a0007 a0010 a0011 a0012	a0002c0002 a0002c0006 a0002c0009 others(7): Show a0002c0002 a0002c0006 a0002c0009 a0002c0013 a0002c0018 a0006c0008 a0007c0010 a0010c0020 a0011c0019 a0012c0017	a0002c0002t0011 a0002c0002t0021 a0002c0002t0022 others(81): Show a0002c0002t0011 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0071 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0092 a0002c0002t0099 a0002c0002t0102 a0002c0002t0103 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0107 a0002c0002t0108 a0002c0002t0109 a0002c0002t0110 a0002c0002t0111 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0002c0002t0117 a0002c0006t0022 a0002c0006t0024 a0002c0006t0028 a0002c0006t0059 a0002c0006t0060 a0002c0006t0066 a0002c0006t0070 a0002c0006t0072 a0002c0006t0073 a0002c0006t0074 a0002c0009t0082 a0002c0009t0090 a0002c0009t0093 a0002c0009t0094 a0002c0013t0091 a0002c0018t0100 a0006c0008t0010 a0006c0008t0101 a0007c0010t0034 a0010c0020t0065 a0011c0019t0030 a0012c0017t0033	a0002c0002t0011g0014 a0002c0002t0011g0074 a0002c0002t0021g0008 others(86): Show a0002c0002t0011g0014 a0002c0002t0011g0074 a0002c0002t0021g0008 a0002c0002t0022g0048 a0002c0002t0023g0008 a0002c0002t0024g0028 a0002c0002t0025g0002 a0002c0002t0025g0050 a0002c0002t0026g0002 a0002c0002t0027g0056 a0002c0002t0027g0057 a0002c0002t0028g0002 a0002c0002t0030g0022 a0002c0002t0031g0027 a0002c0002t0032g0019 a0002c0002t0033g0067 a0002c0002t0035g0022 a0002c0002t0035g0082 a0002c0002t0051g0002 a0002c0002t0052g0002 a0002c0002t0053g0002 a0002c0002t0054g0002 a0002c0002t0055g0060 a0002c0002t0056g0002 a0002c0002t0057g0008 a0002c0002t0058g0002 a0002c0002t0061g0028 a0002c0002t0062g0058 a0002c0002t0063g0054 a0002c0002t0064g0002 a0002c0002t0067g0061 a0002c0002t0068g0002 a0002c0002t0069g0012 a0002c0002t0071g0012 a0002c0002t0075g0049 a0002c0002t0076g0012 a0002c0002t0077g0051 a0002c0002t0078g0002 a0002c0002t0079g0012 a0002c0002t0080g0002 a0002c0002t0081g0053 a0002c0002t0083g0078 a0002c0002t0084g0077 a0002c0002t0085g0021 a0002c0002t0086g0055 a0002c0002t0087g0052 a0002c0002t0088g0002 a0002c0002t0089g0021 a0002c0002t0092g0075 a0002c0002t0099g0080 a0002c0002t0102g0073 a0002c0002t0103g0020 a0002c0002t0104g0020 a0002c0002t0105g0072 a0002c0002t0106g0065 a0002c0002t0107g0014 a0002c0002t0108g0020 a0002c0002t0109g0027 a0002c0002t0110g0068 a0002c0002t0111g0071 a0002c0002t0112g0069 a0002c0002t0113g0070 a0002c0002t0114g0030 a0002c0002t0115g0030 a0002c0002t0116g0031 a0002c0002t0117g0031 a0002c0006t0022g0002 a0002c0006t0024g0002 a0002c0006t0028g0062 a0002c0006t0059g0013 a0002c0006t0060g0002 a0002c0006t0066g0002 a0002c0006t0070g0013 a0002c0006t0072g0013 a0002c0006t0073g0059 a0002c0006t0074g0013 a0002c0009t0082g0029 a0002c0009t0090g0029 a0002c0009t0093g0021 a0002c0009t0094g0076 a0002c0013t0091g0079 a0002c0018t0100g0063 a0006c0008t0010g0015 a0006c0008t0101g0081 a0007c0010t0034g0064 a0007c0010t0034g0066 a0010c0020t0065g0002 a0011c0019t0030g0022 a0012c0017t0033g0019	99	344	0.2878	-152	c.457 others(17): Show c.457+2919_457+3070del	ZNF268	ENSG00000090612.22	transcript	ENST00000536435.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF276_chr16_89716537_89745925	89745465	AAAACAGT others(145): Show AAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAG GGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0113 a0002c0002t0055g0113	1	420	0.0024	-152	c.72 others(11): Show c.7220_*7371del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		4541		chr16	TogoVar
ZNF511_chr10_133303914_133318161	133318009	CCACACCC others(145): Show CCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCA GACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAG ACCACACACCCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAG ACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	282	0.0071	-152	c.51 others(11): Show c.5144_*5295del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4849		chr10	TogoVar
AHRR_chr5_316714_443285	397411	CTGTTAGC others(144): Show CTGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCC TGACCATCCACATAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACG TAGCCCCTGACCGTCCACGTAGCTCCTGACCGTCCATGTTAGCCCCTGAC CA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	268	0.0037	-151	c.352 others(19): Show c.352-15913_352-15763del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126573188	CGTAACAA others(144): Show CGTAACAATTAAGTCAGTTCACTACTTCCACATTAATTATTCTGCTGGGT TTTGTTTTGTTTTGTTTGTTTGTTTTTTAGGTTTATTTTTAGGCCAGGGG CAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAG AT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0035 a0001c0001t0024 a0001c0001t0035	a0001c0001t0024g0334 a0001c0001t0035g0333 a0001c0001t0024g0334 a0001c0001t0035g0333	2	380	0.0053	-151	c.695 others(17): Show c.695+2081_695+2231del	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	7/17			chr5	TogoVar
ANO5_chr11_22188085_22288357	22269177	GAGAAGGA others(144): Show GAGAAGGAAAAGGGAAGGGAAGGGAAGAGAAGGGAAGAAGGAAAGAAGAA AGGAAGGAAGGAAGGAGAAAAAAAGAAAGAGAAGGAAAAGGGAAGGGAAG GGAAGAGAAGGGAAGAAGGAAAGAAGAAAGGAAGGAAGGAAGGAGAAAAA AA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG03209.hp1 others(2): Show HG02622.hp1 HG02922.hp1 HG03209.hp1 HG03540.hp2 NA19043.hp1	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0010 a0008c0012 a0013c0021 a0001c0010 a0008c0012 a0013c0021	a0001c0010t0014 a0001c0010t0022 a0008c0012t0052 others(1): Show a0001c0010t0014 a0001c0010t0022 a0008c0012t0052 a0013c0021t0014	a0001c0010t0014g0294 a0001c0010t0022g0297 a0001c0010t0022g0298 others(2): Show a0001c0010t0014g0294 a0001c0010t0022g0297 a0001c0010t0022g0298 a0008c0012t0052g0107 a0013c0021t0014g0300	5	364	0.0137	-151	c.189 others(18): Show c.1899-1134_1899-984del	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21			chr11	TogoVar
ATP11A_chr13_112685038_112892168	112801059	GTTTCACC others(144): Show GTTTCACCCTAAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTCT TATTCAGCATTGTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAATG GGAATAAAAGGCCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGAT GA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(184): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0004 others(38): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0028 a0001c0040 a0001c0042 a0001c0044 a0001c0045 a0002c0003 a0002c0010 a0002c0025 a0002c0048 a0003c0007 a0003c0008 a0003c0012 a0004c0015 a0004c0027 a0005c0018 a0005c0032 a0006c0034 a0007c0033 a0008c0035 a0009c0038 a0010c0037 a0011c0041 a0012c0043 a0013c0036 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(101): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0052 a0001c0001t0054 a0001c0001t0060 a0001c0001t0066 a0001c0001t0067 a0001c0001t0072 a0001c0001t0073 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0002t0030 a0001c0002t0032 a0001c0002t0039 a0001c0002t0053 a0001c0002t0059 a0001c0002t0070 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0004t0050 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0020 a0001c0005t0036 a0001c0005t0061 a0001c0005t0063 a0001c0005t0071 a0001c0006t0001 a0001c0009t0003 a0001c0009t0004 a0001c0009t0048 a0001c0009t0049 a0001c0009t0075 a0001c0011t0001 a0001c0011t0046 a0001c0011t0065 a0001c0013t0004 a0001c0014t0003 a0001c0014t0043 a0001c0016t0004 a0001c0017t0058 a0001c0017t0076 a0001c0019t0008 a0001c0019t0015 a0001c0020t0008 a0001c0020t0068 a0001c0021t0024 a0001c0022t0001 a0001c0024t0038 a0001c0028t0002 a0001c0040t0001 a0001c0042t0044 a0001c0044t0045 a0001c0045t0014 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0025 a0002c0003t0027 a0002c0010t0001 a0002c0010t0010 a0002c0010t0022 a0002c0025t0002 a0002c0048t0008 a0003c0007t0005 a0003c0007t0011 a0003c0008t0001 a0003c0008t0005 a0003c0008t0008 a0003c0008t0011 a0003c0012t0005 a0004c0015t0002 a0004c0027t0074 a0005c0018t0001 a0005c0032t0001 a0006c0034t0031 a0007c0033t0001 a0008c0035t0001 a0009c0038t0069 a0010c0037t0001 a0011c0041t0001 a0012c0043t0001 a0013c0036t0062 a0014c0023t0002	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(184): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0002g0206 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0095 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0001t0019g0142 a0001c0001t0021g0092 a0001c0001t0022g0202 a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0001t0026g0227 a0001c0001t0052g0176 a0001c0001t0054g0008 a0001c0001t0060g0138 a0001c0001t0066g0097 a0001c0001t0067g0093 a0001c0001t0072g0006 a0001c0001t0073g0171 a0001c0002t0001g0032 a0001c0002t0001g0091 a0001c0002t0001g0167 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0088 a0001c0002t0002g0190 a0001c0002t0004g0041 a0001c0002t0006g0014 a0001c0002t0007g0110 a0001c0002t0008g0066 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0013g0111 a0001c0002t0013g0117 a0001c0002t0013g0211 a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0018g0005 a0001c0002t0018g0189 a0001c0002t0030g0096 a0001c0002t0032g0179 a0001c0002t0039g0212 a0001c0002t0053g0116 a0001c0002t0059g0201 a0001c0002t0070g0199 a0001c0004t0001g0017 a0001c0004t0001g0224 a0001c0004t0002g0195 a0001c0004t0002g0208 a0001c0004t0006g0123 a0001c0004t0006g0132 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0004t0050g0033 a0001c0005t0001g0039 a0001c0005t0001g0086 a0001c0005t0001g0090 a0001c0005t0001g0223 a0001c0005t0002g0081 a0001c0005t0009g0174 a0001c0005t0020g0144 a0001c0005t0036g0172 a0001c0005t0061g0129 a0001c0005t0063g0173 a0001c0005t0071g0125 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0100 a0001c0006t0001g0134 a0001c0006t0001g0135 a0001c0006t0001g0182 a0001c0006t0001g0194 a0001c0009t0003g0218 a0001c0009t0004g0140 a0001c0009t0048g0045 a0001c0009t0049g0141 a0001c0009t0075g0153 a0001c0011t0001g0003 a0001c0011t0001g0013 a0001c0011t0001g0139 a0001c0011t0046g0011 a0001c0011t0065g0130 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0014t0003g0178 a0001c0014t0043g0056 a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0017t0058g0053 a0001c0017t0076g0154 a0001c0019t0008g0051 a0001c0019t0015g0147 a0001c0020t0008g0063 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0022t0001g0196 a0001c0024t0038g0043 a0001c0028t0002g0136 a0001c0040t0001g0216 a0001c0042t0044g0148 a0001c0044t0045g0133 a0001c0045t0014g0254 a0002c0003t0001g0040 a0002c0003t0001g0137 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0089 a0002c0003t0002g0118 a0002c0003t0002g0119 a0002c0003t0002g0183 a0002c0003t0002g0248 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0025g0241 a0002c0003t0027g0233 a0002c0010t0001g0200 a0002c0010t0001g0239 a0002c0010t0010g0222 a0002c0010t0022g0072 a0002c0025t0002g0037 a0002c0048t0008g0165 a0003c0007t0005g0001 a0003c0007t0005g0177 a0003c0007t0005g0205 a0003c0007t0011g0025 a0003c0007t0011g0175 a0003c0008t0001g0010 a0003c0008t0001g0170 a0003c0008t0005g0249 a0003c0008t0008g0245 a0003c0008t0011g0020 a0003c0012t0005g0207 a0003c0012t0005g0235 a0003c0012t0005g0243 a0004c0015t0002g0087 a0004c0027t0074g0155 a0005c0018t0001g0009 a0005c0018t0001g0168 a0005c0032t0001g0234 a0006c0034t0031g0075 a0007c0033t0001g0166 a0008c0035t0001g0187 a0009c0038t0069g0044 a0010c0037t0001g0076 a0011c0041t0001g0169 a0012c0043t0001g0069 a0013c0036t0062g0204 a0014c0023t0002g0064	187	254	0.7362	-151	c.163 others(17): Show c.163-3694_163-3544del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83002921	CCTCCGCG others(144): Show CCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCA CT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01069.hp2 others(26): Show HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03492.hp1 HG03579.hp1 HG04115.hp2 NA18747.hp2 NA18954.hp2 NA18959.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0002c0005 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0006 a0001c0003t0021 a0001c0006t0006 a0001c0007t0001 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0014t0018 a0002c0005t0007 a0002c0010t0007	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(24): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0156 a0001c0001t0004g0253 a0001c0001t0010g0185 a0001c0002t0006g0128 a0001c0003t0021g0219 a0001c0006t0006g0006 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0008t0005g0191 a0001c0008t0005g0226 a0001c0008t0014g0195 a0001c0008t0014g0212 a0001c0008t0021g0213 a0001c0014t0018g0049 a0002c0005t0007g0005 a0002c0010t0007g0206 a0002c0010t0007g0207	29	266	0.1090	-151	c.459 others(17): Show c.459+2043_459+2193del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003883	GTCCGCGT others(144): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGC CC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00735.hp2 others(33): Show HG00280.hp2 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG02080.hp2 HG02155.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03453.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18943.hp2 NA18944.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19064.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0004t0001 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0002c0005t0003 a0002c0009t0013 a0002c0009t0024	a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0004g0227 others(31): Show a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0004g0227 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0076 a0001c0002t0006g0070 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0019g0115 a0001c0002t0025g0098 a0001c0003t0005g0225 a0001c0003t0009g0202 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0004t0001g0002 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0008t0004g0214 a0001c0008t0005g0208 a0002c0005t0003g0180 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118	36	266	0.1353	-151	c.459 others(17): Show c.459+1081_459+1231del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C1orf159_chr1_1076823_1121089	1108634	ACCGTCCA others(144): Show ACCGTCCACCACAGCCACCATGTCTCGGCAGCACCGTTCACCACAGCCAC CATGTCTCAGCACCATCCACCACGGCCACCATGTCTCAGCAGCACCGTCC ACCACAGCCACCATGTCTCGGCAGCACCGTTCACCACAGCCACCATGTCT CG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	326	0.0031	-151	c.-13 others(19): Show c.-136+7275_-136+7425del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C7orf50_chr7_992006_1143247	1016425	GCACACAG others(144): Show GCACACAGCAGCGCACGCCAGCACACAGCAGCGCACGCCAGCACATAGCA GCACAGCAGCACACAGCAGCGCACAGCAGCACAGCAGCGCACAGCAGCAC ACACCAGCACAAAGCAGCGCACGCCAGCGCACAGCAGCGCACACCAGTAC AC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02145.hp2 HG02258.hp2 others(1): Show HG00099.hp1 HG02145.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0307 a0001c0001t0005g0241 a0001c0001t0005g0248 others(1): Show a0001c0001t0003g0307 a0001c0001t0005g0241 a0001c0001t0005g0248 a0001c0001t0008g0132	4	326	0.0123	-151	c.130 others(17): Show c.130-6433_130-6283del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318478	AGGAAAGG others(144): Show AGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	324	0.0031	-151	c.835 others(17): Show c.835-7636_835-7486del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CADM2_chr3_84953989_86079429	85769041	CATATATA others(144): Show CATATATACATATATAGTATATATACACATATATACATATATAGTATATA TACACATATATACATATATGTATATATACACATATATACATATATAGTAT ATATACACATATATACATATATAGTATATATACACATATATACATATATA GT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02818.hp2 HG02895.hp2 others(2): Show HG01981.hp2 HG02818.hp2 HG02895.hp2 HG03491.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0027 others(2): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0027 a0001c0001t0032 a0001c0001t0050	a0001c0001t0007g0082 a0001c0001t0015g0133 a0001c0001t0027g0022 others(2): Show a0001c0001t0007g0082 a0001c0001t0015g0133 a0001c0001t0027g0022 a0001c0001t0032g0112 a0001c0001t0050g0107	5	146	0.0343	-151	c.89- others(17): Show c.89-32996_89-32846del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK2B_chr7_44212154_44330594	44227067	GTCATGGG others(144): Show GTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGGACA GAGGGAGTGTGGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTGCAG GGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGGG GA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03491.hp1 others(2): Show HG02622.hp1 HG02647.hp2 HG03491.hp1 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0006 a0001c0008t0001 a0001c0002t0001 a0001c0002t0006 a0001c0008t0001	a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0189 others(2): Show a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0189 a0001c0002t0006g0188 a0001c0008t0001g0214	5	242	0.0207	-151	c.146 others(17): Show c.1469-574_1469-424del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC77_chr12_396644_447642	419504	CTGTGTGT others(144): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0351 a0002c0002t0002g0351	1	432	0.0023	-151	c.413 others(16): Show c.413+877_413+1027del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK12_chr17_39456486_39539544	39499059	CTTTCTTT others(144): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	260	0.0039	-151	c.242 others(19): Show c.2420-2187_2420-2037del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621538	TGTTCTTC others(144): Show TGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02809.hp1 HG03017.hp1 others(3): Show HG00738.hp1 HG02809.hp1 HG03017.hp1 HG03041.hp1 HG04115.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0013 a0001c0001t0001 a0001c0001t0004 a0002c0002t0013	a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0013g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0013g0000	6	298	0.0201	-151	c.-28 others(11): Show c.-2816_-2666del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2627		chrX	TogoVar
CFAP58_chr10_104348833_104460102	104440075	GCCTCCCA others(144): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACT GATTTACTATTTTAAACAACTCCTCTTCTTCCCCTTTAAACATTTACCGT CTACGCATGCTAACGTCTCCAGAGATGACTGCTCTAGCATGCATCTATAG GT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp1 HG03834.hp1 others(1): Show HG00323.hp2 HG02486.hp1 HG03834.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0114 a0001c0004t0001g0172 others(1): Show a0001c0004t0001g0091 a0001c0004t0001g0114 a0001c0004t0001g0172 a0001c0004t0001g0299	4	308	0.0130	-151	c.225 others(19): Show c.2257-7619_2257-7469del	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHMP7_chr8_23238637_23266999	23256785	GCCTCTTT others(144): Show GCCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACC CGGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCC TGGGTTCACGCCATTTTCCTGCGCCAGCCTCCCGAGTAGCTGGTACTACA GC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	438	0.0023	-151	c.791 others(15): Show c.791+194_791+344del	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNTN1_chr12_40687439_41077415	41056910	ATATTTAT others(144): Show ATATTTATAATATTTAGATATTTATAAATATTTATAATATTTAGATATTT ATAAATATTATAAATATTTAGATATTTATAAATATTATAAATATTTAGAT ATTTATAAATGATATTTATAAATATTATAAATATTTAGATATTTATAAAT AT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp1 HG03486.hp1 others(1): Show HG03041.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0006 a0001c0001t0007g0055 a0001c0001t0007g0058 others(1): Show a0001c0001t0007g0006 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0004t0007g0057	4	230	0.0174	-151	c.298 others(21): Show c.2981-13045_2981-12895del	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
DGKB_chr7_14140049_14907751	14211403	TATTTACT others(144): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0110 a0004c0011t0002g0110	1	148	0.0068	-151	c.212 others(21): Show c.2123-33403_2123-33253del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211489	TATTTACT others(144): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	148	0.0068	-151	c.212 others(21): Show c.2123-33489_2123-33339del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGUOK_chr2_73921880_73963946	73963685	AACTTCTC others(144): Show AACTTCTCTGTGTCAAAGTGACTTAGAATCTTCTGGCCAAAAAAAAAAAA AAAAGGAATTTTTACTGATAACATTTAACATTTCACACAGCAAAGTTTTT ACTGATAACATTTAACATTTCACACAGCAAAGTTTCTGATAGTTCATGAT TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	352	0.0028	-151	c.49 others(11): Show c.4950_*5100del	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		4740		chr2	TogoVar
EML5_chr14_88607431_88797953	88796220	ATTATATG others(144): Show ATTATATGTTATATATATTATATATATTATATATATATTATATGTTATAT ATATTATATATATATTATATGTTATATATATTATATATATATTATATGTT ATATATATTATATATATATTATATGTTATATATTTTATATATATATTATA TG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01516.hp1 HG01928.hp2 others(25): Show HG01109.hp2 HG01516.hp1 HG01928.hp2 HG02165.hp1 HG02622.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp1 HG03942.hp1 HG04228.hp2 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18970.hp2 NA18982.hp2 NA18987.hp1 NA19066.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0010 a0010c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0028 a0001c0001t0030 a0001c0003t0002 a0002c0002t0003 a0002c0002t0033 a0007c0010t0003 a0010c0013t0003	a0001c0001t0002g0122 a0001c0001t0003g0039 a0001c0001t0003g0040 others(25): Show a0001c0001t0002g0122 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0074 a0001c0001t0003g0169 a0001c0001t0007g0069 a0001c0001t0008g0131 a0001c0001t0028g0009 a0001c0001t0030g0135 a0001c0003t0002g0012 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0033g0170 a0007c0010t0003g0080 a0010c0013t0003g0022	28	332	0.0843	-151	c.-38 others(11): Show c.-3868_-3718del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3268		chr14	TogoVar
ERBB4_chr2_211370717_212543802	211860960	ATATATAA others(144): Show ATATATAAATATATTTAAATATATTATATAATATAATATATTATATATTT ATATATTTATATATATATAAATATAATATATTTATATATTTATATATATA TAAATATAATATATTTATATATTATAAAATATATAAATACATTATATATA TT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp1 HG03471.hp2 others(3): Show HG01891.hp1 HG02965.hp1 HG03471.hp2 HG03486.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0026 a0001c0002t0001 a0001c0002t0016	a0001c0001t0001g0021 a0001c0001t0002g0016 a0001c0001t0012g0001 others(3): Show a0001c0001t0001g0021 a0001c0001t0002g0016 a0001c0001t0012g0001 a0001c0001t0026g0052 a0001c0002t0001g0036 a0001c0002t0016g0019	6	56	0.1071	-151	c.422 others(19): Show c.422-72952_422-72802del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
FHDC1_chr4_152931323_152984671	152952297	AGTTGTTT others(144): Show AGTTGTTTTTTATTTTCTCAGTTCAAATCTCACGCGATTCTTGTTAGGCC AAGACATCCATTTCTAAATTGGGGCTTTTAAATGTGGGTGATATTATTCT AAGAGGAAATTGCTAAATTTAAAACATTTAAAGTGTATATTTACAGTCCT CC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19082.hp1 NA19002.hp1 NA19082.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0032 a0004c0003t0001 a0004c0003t0032	a0004c0003t0001g0402 a0004c0003t0032g0291 a0004c0003t0001g0402 a0004c0003t0032g0291	2	438	0.0046	-151	c.499 others(17): Show c.499-1201_499-1051del	FHDC1	ENSG00000137460.10	transcript	ENST00000511601.6	protein_coding	2/11			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807344	CCTCAGCC others(144): Show CCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAG GGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA19060.hp2 HG02074.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0226 a0002c0002t0001g0099 a0001c0001t0001g0226 a0002c0002t0001g0099	2	314	0.0064	-151	c.31 others(11): Show c.3179_*3329del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3058		chr2	TogoVar
GAS6_chr13_113815549_113869076	113830590	CCCAGGTG others(144): Show CCCAGGTGACCTCGCCTCAGGCCACCTGCCCCGGGCCCCTCCTCCCCATG GCTCCATCCCCTGCAACACCGCTCCCCCAGGCGACCTCGCCTCAGGCCAC CTGCCCCGGGCCCCTCCTCCCCATGGCTCCATCCCCTGCAACACCACTCC CT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp1 HG02040.hp2 HG02165.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0011 a0001c0003 a0006c0011	a0001c0003t0001 a0006c0011t0001 a0001c0003t0001 a0006c0011t0001	a0001c0003t0001g0042 a0006c0011t0001g0100 a0001c0003t0001g0042 a0006c0011t0001g0100	2	143	0.0140	-151	c.114 others(19): Show c.1143+1558_1143+1708del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GATA5_chr20_62458497_62480995	62476945	CTTTTCTT others(144): Show CTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACC CAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	382	0.0026	-151	c.-11 others(11): Show c.-1188_-1038del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		951		chr20	TogoVar
GLB1L3_chr11_134271379_134324564	134308206	CACCACCA others(144): Show CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCAAATACCACCACCACCACCACCAC CACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCACCA CT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG00735.hp1 others(77): Show HG00408.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02698.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0002c0006t0001 a0002c0006t0002 a0010c0012t0003	a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0173 others(67): Show a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0002g0109 a0001c0001t0002g0370 a0001c0001t0002g0376 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0134 a0001c0002t0001g0157 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0271 a0001c0002t0001g0283 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0266 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0316 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0342 a0001c0002t0002g0351 a0001c0002t0002g0355 a0001c0002t0002g0357 a0001c0002t0002g0366 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0107 a0001c0002t0003g0167 a0001c0002t0003g0312 a0001c0002t0004g0294 a0001c0003t0001g0057 a0002c0006t0001g0253 a0002c0006t0001g0255 a0002c0006t0002g0349 a0002c0006t0002g0350 a0010c0012t0003g0203	80	422	0.1896	-151	c.961 others(17): Show c.961+1009_961+1159del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPATCH8_chr17_44390281_44508406	44480614	GGAGGCTG others(144): Show GGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAAGGAGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGGGCAAAAAA AAAAAAAATTAGCTGGGTACGATGACAGGCGCCTGTAATCCCAGCTACTC AA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	326	0.0031	-151	c.46- others(15): Show c.46-5862_46-5712del	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GTPBP6_chrX_299759_323796	322219	AAAGCCGG others(144): Show AAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCT GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAAT ATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAAGAA AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	155	0.0065	-151	c.-35 others(11): Show c.-3583_-3433del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3424		chrX	TogoVar
KLHL17_chr1_955584_970719	964575	GGCTGTGG others(144): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	2	432	0.0046	-151	c.170 others(16): Show c.1700+50_1700+200del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL17_chr1_955584_970719	964623	GGGGGGCG others(144): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGG ATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGG GA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01109.hp1 others(32): Show HG00673.hp1 HG00741.hp2 HG01109.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp1 HG02155.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18954.hp2 NA18963.hp1 NA18975.hp2 NA18980.hp2 NA18994.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0005 a0001c0005t0005	a0001c0001t0002g0030 a0001c0001t0005g0004 a0001c0001t0005g0013 others(5): Show a0001c0001t0002g0030 a0001c0001t0005g0004 a0001c0001t0005g0013 a0001c0001t0005g0032 a0001c0001t0005g0074 a0001c0002t0005g0004 a0001c0005t0005g0004 a0001c0005t0005g0075	35	432	0.0810	-151	c.170 others(16): Show c.1700+99_1701-184del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL17_chr1_955584_970719	964631	CGGGTCCG others(144): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGG CG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01123.hp2 others(31): Show HG00423.hp2 HG00609.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG02300.hp2 HG02976.hp2 HG03579.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp2 NA18952.hp2 NA18959.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp1 NA18983.hp2 NA18986.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19083.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0014 others(3): Show a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0059 a0001c0001t0002g0073 a0001c0016t0002g0057	34	432	0.0787	-151	c.170 others(17): Show c.1700+102_1701-181del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11			chr1	TogoVar
KLK2_chr19_50868439_50885567	50880396	AAACTCAT others(144): Show AAACTCATTAGGCTGAGAACCTTGTGGAATGCAGCTGACCCAGCTGATAG AGGAAGTAGCCAGGTGGGAGCCTTTCCCAGTGGGTGTGGGACATATCTGG CAAGATTTTGTGGCACTCCTGGTTACAGATACTGGGGCAGCAAATAAAAC TG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0010 a0001c0003t0019g0010	1	456	0.0022	-151	c.18 others(11): Show c.1840_*1990del	KLK2	ENSG00000167751.13	transcript	ENST00000325321.8	protein_coding	5/5	1840	INFO_REALIGN_3_PRIME	chr19	TogoVar

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