Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHG4B_chr5_87168_194966	175731	ACCCCCTC others(112): Show ACCCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGCACCCCGCC TGAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTG CACCCCGCCTGAGCCCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02257.hp1 HG02280.hp1 HG02622.hp1	a0010 a0017 a0010 a0017	a0010c0023 a0017c0078 a0010c0023 a0017c0078	a0010c0023t0041 a0010c0023t0044 a0017c0078t0067 a0010c0023t0041 a0010c0023t0044 a0017c0078t0067	a0010c0023t0041g0184 a0010c0023t0044g0187 a0017c0078t0067g0192 a0010c0023t0041g0184 a0010c0023t0044g0187 a0017c0078t0067g0192	3	210	0.0143	-119	c.440 others(19): Show c.4402+1638_4402+1756del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977870	ACCCCCAA others(112): Show ACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAAC CCCGGGAACCGCCTCCCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0069 a0001c0010t0023g0069	1	422	0.0024	-119	c.32 others(11): Show c.3296_*3414del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2006		chr1	TogoVar
PPFIBP1_chr12_27519206_27700564	27558477	CACACACA others(112): Show CACACACACACACACACACGATATTCTATATAGATCAAGAAATGTCTTAC TTCTTTGTGGGCATTGGGGAAAATAGTTTAGGTATATATACTCTTCCTTC CTGCCCCCACCTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 NA18942.hp2 others(3): Show HG00621.hp1 HG02015.hp2 NA18942.hp2 NA18984.hp1 NA18986.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0095 a0001c0001t0004g0077 a0001c0002t0001g0049 others(3): Show a0001c0001t0002g0095 a0001c0001t0004g0077 a0001c0002t0001g0049 a0001c0002t0003g0039 a0001c0002t0003g0123 a0001c0002t0005g0092	6	314	0.0191	-119	c.-12 others(21): Show c.-123-19656_-123-19538del	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP2R5C_chr14_101756709_101932977	101782313	CTTCCCCT others(112): Show CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTC TCTCCCCCCCTTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	138	0.0073	-119	c.94- others(15): Show c.94-3690_94-3572del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRAM1_chr19_8485056_8507640	8493497	GCCATGCA others(112): Show GCCATGCAGGCAGCCCTGGTTCATCCACAGCTGACCCAGAGCAGGCCTCT GCCCGCCTTCCCCGCATGGCCAGCTCAGATCCCTGGGAAAGGCTGGGCTC TCCCCACCTGCAGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG03195.hp2 HG02723.hp2 HG02976.hp2 HG03195.hp2	a0006 a0042 a0044 a0006 a0042 a0044	a0006c0079 a0042c0049 a0044c0078 a0006c0079 a0042c0049 a0044c0078	a0006c0079t0002 a0042c0049t0001 a0044c0078t0002 a0006c0079t0002 a0042c0049t0001 a0044c0078t0002	a0006c0079t0002g0202 a0042c0049t0001g0120 a0044c0078t0002g0259 a0006c0079t0002g0202 a0042c0049t0001g0120 a0044c0078t0002g0259	3	422	0.0071	-119	c.157 others(19): Show c.1577-2459_1577-2341del	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	4/9			chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151855378	GCCCTCCA others(112): Show GCCCTCCACACACACCATCCACACACCACCCTCCACATACACCATGCTCC ACACACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCAC ACACCACCCTCCACACACCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 NA18747.hp2 others(5): Show HG00621.hp1 HG00621.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18948.hp2 NA18950.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0155 a0001c0001t0001g0200 a0001c0001t0002g0018 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0200 a0001c0001t0002g0018 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0003g0193 a0001c0001t0005g0213 a0001c0001t0022g0009	8	252	0.0318	-119	c.114 others(19): Show c.114+21010_114+21128del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PXDNL_chr8_51314577_51814445	51377999	CTTGGAGA others(112): Show CTTGGAGAACCTTTATGTCTAGCTAAGGGATTGTAAATACACCAATTAGC ACTCTGTGTCTAGCTCAAGGTTTGTAAATGCACTAATCAGCACTCTGTAT CTAGCTAATCTGGTGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp1 HG03130.hp2 HG03516.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0054 a0016c0016t0001g0075 a0016c0016t0001g0054 a0016c0016t0001g0075	2	122	0.0164	-119	c.355 others(19): Show c.3558-3387_3558-3269del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	17/22			chr8	TogoVar
RASA3_chr13_113972783_114137623	114020070	TCAGGTGG others(112): Show TCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCCTCAGGTGGGTG GAGCCTGTGTCCGAGGCATTAGCAGCCCTGTCAGGTGGGTGGAGCCTGTG TCCGAGGCATTAGCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02257.hp1 HG02257.hp2 others(2): Show HG01993.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0003 a0002c0004t0004 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0017 a0001c0003t0003g0022 a0002c0004t0004g0001 others(2): Show a0001c0001t0001g0017 a0001c0003t0003g0022 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	5	67	0.0746	-119	c.785 others(17): Show c.785+1215_786-1152del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114103933	CGCTGCCA others(112): Show CGCTGCCACAGCCACGGACACCCACCCCCGATGCGTCCACACTGCCGCCG GCCACAGACACCCACCCCTGATGCGTTCACACTGCCCCCGGCCACAGACA CCCACCCCCGATGCGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0052 a0001c0014t0002g0052	1	67	0.0149	-119	c.55+ others(17): Show c.55+28383_55+28501del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBBP6_chr16_24534566_24577863	24574391	GGGCGGAG others(112): Show GGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGAGGG GCTTCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGGCGGCTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	336	0.0030	-119	c.19 others(11): Show c.1947_*2065del	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1529		chr16	TogoVar
RNF223_chr1_1065967_1079306	1077212	GGGTGGCT others(112): Show GGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGG ACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGA GTCTATGGGGACTCTGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	324	0.0031	-119	c.-33 others(11): Show c.-3325_-3207del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2907		chr1	TogoVar
RPH3AL_chr17_207389_357807	242730	CCTTCCTC others(112): Show CCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGACT ACCTTCCTCTAATGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCCTTCCTCTATTGATTA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19074.hp2 HG01978.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0039 a0001c0001t0012g0006 a0001c0001t0004g0039 a0001c0001t0012g0006	2	133	0.0150	-119	c.613 others(17): Show c.613+4262_613+4380del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RYR2_chr1_237037184_237838988	237309317	CACAGAGC others(112): Show CACAGAGCACTGATTGGTGCATTTACAAACCTTGAACTAGACACAGAGTG CTGATTGGTGTATTTACAATCCCTTAGCTAGACATAAAGGTTCTCCAAGT CCCCACTAGATTAGCTAGAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0010 a0005c0046t0010	a0005c0046t0010g0080 a0005c0046t0010g0080	1	100	0.0100	-119	c.169 others(19): Show c.169-21558_169-21440del	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970794	GGGAGGGG others(112): Show GGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCAGGAGCTGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG02922.hp2 others(1): Show HG01106.hp1 HG02809.hp1 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0261 others(1): Show a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0261 a0001c0005t0002g0263	4	384	0.0104	-119	c.157 others(19): Show c.1572+3085_1572+3203del	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDK1_chr7_3296252_4274000	4217021	ACCACCCG others(112): Show ACCACCCGGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCA GGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACCCGGAGCACC ACACCACCCGGAGCACCAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0077 a0001c0038t0002g0077	1	116	0.0086	-119	c.554 others(19): Show c.5540-3072_5540-2954del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89480087	CCACCAGA others(112): Show CCACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCTT GAGCTAAACACAGGGTGCTGATTGGTGTATTTACAATCCCTGAGCTAGAT ATAAAGGTTCTCCACGTCCT	C C	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	370	0.0027	-119	c.-31 others(21): Show c.-310+17713_-310+17831del	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN5_chr22_19709503_19728319	19725181	AGTGAGGA others(112): Show AGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCT GTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGG TGAGGACGCTATCCGGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	384	0.0026	-119	c.26 others(11): Show c.2698_*2816del	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1863		chr22	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(112): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0319 a0001c0011t0014g0319	1	324	0.0031	-119	c.-15 others(17): Show c.-15-8273_-15-8155del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396425	AGAGAGAG others(112): Show AGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGGGGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0172 a0001c0005t0003g0172	1	324	0.0031	-119	c.-15 others(17): Show c.-15-8270_-15-8152del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC6A9_chr1_43991483_44036462	44033631	TGTGTTTT others(112): Show TGTGTTTTACCCACCTTGAACCAGAAAGAGCTTCAGGAAACCACACAGCT GTGTCCTGAGGAGACACTTGTGAGAAAGATTCTGGTTTGAAAAGTCATCT TCCTGAGACAGGGACTAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	388	0.0026	-119	c.-25 others(11): Show c.-2530_-2412del	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding		2170		chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558712	AGGGGGGA others(112): Show AGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGAGAA TGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAG GCAGAGTGAATCTGAATGAG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0157 a0001c0002t0009g0157	1	330	0.0030	-119	c.-11 others(19): Show c.-114-4971_-114-4853del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A9_chr19_32825511_32874767	32847992	ATTTTGTC others(112): Show ATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTA AACATGGAAAGGAACAACCGGTACCAGCCACTGCAAAAACATGCCAAAAT GTAAAGACCATCAAGGCTAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0091 a0002c0002t0003g0091	1	404	0.0025	-119	c.978 others(17): Show c.978-4160_978-4042del	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLIT2_chr4_20246905_20625561	20473129	ATTTTGCA others(112): Show ATTTTGCAATACATCCACAAAGTGCATCCTCTATTCCAATCAAACTTTAC TATTCTTTCTTCATAAATAAATATATATTTTTCCAGTTTGCTTGCATTAT CTCAATTCCATTAACCCTAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG02055.hp1 others(6): Show HG00738.hp2 HG01123.hp2 HG02055.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02886.hp1 NA18998.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0013	a0001c0001t0005 a0001c0001t0014 a0001c0001t0056 others(6): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0056 a0001c0001t0062 a0001c0002t0002 a0001c0002t0014 a0001c0002t0028 a0001c0007t0011 a0003c0013t0046	a0001c0001t0005g0059 a0001c0001t0014g0133 a0001c0001t0056g0044 others(6): Show a0001c0001t0005g0059 a0001c0001t0014g0133 a0001c0001t0056g0044 a0001c0001t0062g0035 a0001c0002t0002g0112 a0001c0002t0014g0161 a0001c0002t0028g0156 a0001c0007t0011g0214 a0003c0013t0046g0060	9	230	0.0391	-119	c.467 others(17): Show c.467+5307_467+5425del	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482673	CTGCAGTT others(112): Show CTGCAGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTCAG ACCTGTATCCCCGCTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCC CGCTGCGGACACCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	168	0.0060	-119	c.549 others(19): Show c.549-48856_549-48738del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SPPL3_chr12_120757510_120909358	120817825	CTCCTGTA others(112): Show CTCCTGTATCATCCTCTATTCTGTTCTTTGCCCACACAAAGAAAGCAAGC GTTCATCAGCATTTCAGAAATAGACACAGATTTTACTACAGGAGCTGGGG TTTGGGGATCTGGGGTAAGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	320	0.0031	-119	c.24- others(15): Show c.24-7058_24-6940del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
TAF13_chr1_109059140_109081003	109071958	ATATATAT others(112): Show ATATATATATATATATATACACACATATATATATATATATATATATATAT ATATATACACACACATATATATATATATATATATATACACACACATATAT ATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03710.hp1 HG01243.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0068 a0001c0001t0001g0074	2	414	0.0048	-119	c.106 others(17): Show c.106+2910_106+3028del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772352	TGTATACA others(112): Show TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	112	0.0089	-119	c.62+ others(15): Show c.62+9624_62+9742del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TEKT1_chr17_6792993_6836729	6834634	AGATACAT others(112): Show AGATACATAAGAAACTGGTAACACTGGTTGCCTCTGGAAAGAGAACTGGA TGGCTGGGGTGTGGAGGGTAAAGGAGGCTTCACTGAATAATCTTTTGCCT TTTGAGAGTTGTACAATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0316 a0002c0003t0002g0316	1	406	0.0025	-119	c.-31 others(11): Show c.-3122_-3004del	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		2906		chr17	TogoVar
TERT_chr5_1248167_1300068	1259124	GGGAGTGG others(112): Show GGGAGTGGATGCAGATGCCCACAGGAGAGGGAGTGGACGCGGATGCCCAC AGGAGAGGGGGAGTGGAGTGGATGCAGATGCACACAGGAGAGGGAGTGGA CGTGGATGCCCACAGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	392	0.0026	-119	c.297 others(17): Show c.2971-584_2971-466del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	12/15			chr5	TogoVar
THEM6_chr8_142722223_142741927	142738581	GGTGGACA others(112): Show GGTGGACAGAGTCACGACTGCTTTGGTGGGTGTCCCCGGGGCTCACCCTA GGTCAGTTGCCTGCTCAGTCTCAGCATCCAGCCACCGCCTCTGGGCTCAG TCAGCTGACTGGCCACTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	414	0.0024	-119	c.31 others(11): Show c.3143_*3261del	THEM6	ENSG00000130193.8	transcript	ENST00000336138.4	protein_coding		1655		chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139747902	AGGGGGGG others(112): Show AGGGGGGGCATACAGGGGTCAGAGTGGGTGTGAGGGTGTCCCGGGGTCAG AGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGATGCAGGGGGTATACACA GCAAGTGTCACAGCAGGTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01069.hp2 others(5): Show HG00140.hp1 HG00733.hp2 HG01069.hp2 HG01169.hp2 HG01433.hp1 HG02717.hp2 HG02922.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0002t0003 a0001c0002t0023 others(2): Show a0001c0001t0004 a0001c0002t0003 a0001c0002t0023 a0001c0003t0020 a0001c0004t0004	a0001c0001t0004g0064 a0001c0001t0004g0078 a0001c0002t0003g0006 others(5): Show a0001c0001t0004g0064 a0001c0001t0004g0078 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0041 a0001c0002t0023g0015 a0001c0003t0020g0047 a0001c0004t0004g0087	8	98	0.0816	-119	c.305 others(21): Show c.3056-15819_3056-15701del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(112): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG02615.hp1 HG02922.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0044 a0001c0010t0002 a0001c0010t0044	a0001c0010t0002g0006 a0001c0010t0044g0170 a0001c0010t0002g0006 a0001c0010t0044g0170	2	180	0.0111	-119	c.188 others(17): Show c.1884+767_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TUBGCP5_chr15_22994177_23044569	23040711	GCCGGAGG others(112): Show GCCGGAGGTGCTGGGGGGCGGGGGGAACTTCGTAACCCCACCTGGCCAGA GGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGG GATTTCATAACCCCACCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18944.hp1 NA18995.hp1 NA18747.hp1 NA18944.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124	3	351	0.0086	-119	c.-12 others(11): Show c.-1287_-1169del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1143		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042468	CTCTGGGG others(112): Show CTCTGGGGCCATCATAACCCCACTTGGCCGGAGGTGCTGGGGGGCGGGGG GAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAACT GTCACCTGGCCAGAGGTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	351	0.0029	-119	c.-30 others(11): Show c.-3044_-2926del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2900		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042470	CTGGGGCC others(112): Show CTGGGGCCATCATAACCCCACTTGGCCGGAGGTGCTGGGGGGCGGGGGGA ACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAACTGT CACCTGGCCAGAGGTGCTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02572.hp2 HG02886.hp2 others(6): Show HG01496.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0150 a0001c0001t0003g0030 a0001c0001t0003g0274 others(5): Show a0001c0001t0001g0150 a0001c0001t0003g0030 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286	9	351	0.0256	-119	c.-30 others(11): Show c.-3046_-2928del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2902		chr15	TogoVar
VCX3A_chrX_6528618_6540118	6532872	CCTCTTCC others(112): Show CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0006 a0025c0025t0006	a0025c0025t0006g0041 a0025c0025t0006g0041	1	74	0.0135	-119	c.75 others(9): Show c.754_*872del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		745		chrX	TogoVar
XIRP2_chr2_166883480_167264753	167214107	AAGGAAGG others(112): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCAAAGAGAAAGAGAAAGAA GGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAAGAGAGAGAGAAAGAG AGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18747.hp1 NA18990.hp2 others(3): Show HG04199.hp2 NA18747.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19030.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0006c0006t0002 a0002c0002t0002 a0006c0006t0002	a0002c0002t0002g0048 a0002c0002t0002g0164 a0006c0006t0002g0007 others(3): Show a0002c0002t0002g0048 a0002c0002t0002g0164 a0006c0006t0002g0007 a0006c0006t0002g0018 a0006c0006t0002g0020 a0006c0006t0002g0185	6	190	0.0316	-119	c.723 others(17): Show c.723+3243_723+3361del	XIRP2	ENSG00000163092.22	transcript	ENST00000409195.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZCCHC7_chr9_37115574_37363149	37286838	GTCCCTCC others(112): Show GTCCCTCCCTCCCCCTTCCCTCCCTCCCTCCCCCCCTCCCCCTTCCCTCC CTCCCTCCCCCTCCCCCTTCCCTCCCTCCCTCCCCTCCCACCTCCCTCCC TCCCTCCCCCCTTCCCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	282	0.0036	-119	c.611 others(19): Show c.611-15341_611-15223del	ZCCHC7	ENSG00000147905.18	transcript	ENST00000336755.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC11B_chr5_705355_789729	764828	AGTGGGGA others(112): Show AGTGGGGACTTGGAGAACCTTTATGTCTAGCTAAGGGACTGTAAATACAC CAATCAGCACCCTATGTCTAGCTCGAAGTTTGTAAATGCACCAATCAGCA CTCTGTATCTAGCTAATCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(240): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(52): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0003c0007 a0004c0012 a0005c0027 a0005c0055 a0005c0066 a0006c0018 a0006c0064 a0007c0019 a0009c0028 a0010c0059 a0012c0051 a0013c0056 a0014c0065 a0015c0052 a0016c0062 a0018c0063 a0019c0058 a0020c0057 a0021c0053	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(109): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0075 a0001c0002t0003 a0001c0002t0006 a0001c0002t0022 a0001c0002t0040 a0001c0002t0050 a0001c0002t0065 a0001c0002t0070 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0028 a0001c0003t0033 a0001c0003t0035 a0001c0003t0067 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0028 a0001c0004t0044 a0001c0004t0049 a0001c0004t0054 a0001c0005t0001 a0001c0005t0018 a0001c0005t0020 a0001c0005t0046 a0001c0008t0007 a0001c0009t0021 a0001c0009t0029 a0001c0009t0039 a0001c0010t0013 a0001c0010t0072 a0001c0011t0015 a0001c0011t0055 a0001c0013t0012 a0001c0013t0015 a0001c0014t0032 a0001c0014t0059 a0001c0014t0076 a0001c0015t0005 a0001c0015t0012 a0001c0016t0027 a0001c0016t0060 a0001c0020t0037 a0001c0021t0001 a0001c0021t0056 a0001c0022t0048 a0001c0022t0073 a0001c0023t0036 a0001c0029t0018 a0001c0030t0019 a0001c0031t0010 a0001c0032t0010 a0001c0033t0064 a0001c0034t0003 a0001c0035t0074 a0001c0036t0013 a0001c0037t0010 a0001c0038t0038 a0001c0039t0066 a0001c0040t0005 a0001c0041t0003 a0001c0042t0003 a0001c0043t0068 a0001c0044t0045 a0001c0045t0001 a0001c0046t0017 a0001c0047t0027 a0003c0007t0009 a0003c0007t0023 a0003c0007t0024 a0003c0007t0041 a0004c0012t0011 a0004c0012t0024 a0004c0012t0052 a0005c0027t0014 a0005c0027t0023 a0005c0055t0014 a0005c0066t0014 a0006c0018t0031 a0006c0018t0051 a0006c0018t0071 a0006c0064t0053 a0007c0019t0014 a0007c0019t0030 a0009c0028t0011 a0010c0059t0009 a0012c0051t0069 a0013c0056t0011 a0014c0065t0031 a0015c0052t0011 a0016c0062t0023 a0018c0063t0042 a0019c0058t0009 a0020c0057t0009 a0021c0053t0011	a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 others(235): Show a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0167 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0251 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0258 a0001c0001t0017g0007 a0001c0001t0017g0030 a0001c0001t0017g0031 a0001c0001t0018g0263 a0001c0001t0020g0067 a0001c0001t0020g0074 a0001c0001t0026g0105 a0001c0001t0026g0106 a0001c0001t0026g0137 a0001c0001t0035g0059 a0001c0001t0038g0211 a0001c0001t0047g0012 a0001c0001t0057g0102 a0001c0001t0058g0055 a0001c0001t0061g0111 a0001c0001t0062g0104 a0001c0001t0063g0142 a0001c0001t0075g0212 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0239 a0001c0002t0003g0242 a0001c0002t0003g0264 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0075 a0001c0002t0006g0092 a0001c0002t0006g0100 a0001c0002t0006g0114 a0001c0002t0006g0115 a0001c0002t0006g0140 a0001c0002t0022g0057 a0001c0002t0022g0058 a0001c0002t0022g0150 a0001c0002t0040g0027 a0001c0002t0050g0166 a0001c0002t0065g0229 a0001c0002t0070g0244 a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0082 a0001c0003t0002g0085 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0093 a0001c0003t0002g0141 a0001c0003t0002g0153 a0001c0003t0006g0079 a0001c0003t0006g0084 a0001c0003t0010g0213 a0001c0003t0010g0247 a0001c0003t0010g0256 a0001c0003t0010g0262 a0001c0003t0010g0265 a0001c0003t0028g0026 a0001c0003t0033g0080 a0001c0003t0033g0081 a0001c0003t0035g0098 a0001c0003t0067g0246 a0001c0004t0002g0151 a0001c0004t0005g0009 a0001c0004t0005g0017 a0001c0004t0005g0025 a0001c0004t0005g0037 a0001c0004t0005g0041 a0001c0004t0005g0042 a0001c0004t0005g0045 a0001c0004t0005g0046 a0001c0004t0005g0049 a0001c0004t0006g0083 a0001c0004t0007g0040 a0001c0004t0007g0043 a0001c0004t0007g0044 a0001c0004t0012g0165 a0001c0004t0028g0039 a0001c0004t0044g0011 a0001c0004t0049g0070 a0001c0004t0054g0053 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0101 a0001c0005t0001g0107 a0001c0005t0001g0112 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0130 a0001c0005t0001g0139 a0001c0005t0018g0233 a0001c0005t0018g0234 a0001c0005t0020g0076 a0001c0005t0046g0038 a0001c0008t0007g0018 a0001c0008t0007g0019 a0001c0008t0007g0020 a0001c0008t0007g0021 a0001c0008t0007g0022 a0001c0008t0007g0023 a0001c0008t0007g0050 a0001c0009t0021g0154 a0001c0009t0021g0170 a0001c0009t0021g0171 a0001c0009t0029g0028 a0001c0009t0029g0029 a0001c0009t0039g0024 a0001c0010t0013g0199 a0001c0010t0013g0202 a0001c0010t0013g0203 a0001c0010t0013g0204 a0001c0010t0072g0206 a0001c0011t0015g0091 a0001c0011t0015g0143 a0001c0011t0015g0144 a0001c0011t0015g0145 a0001c0011t0055g0146 a0001c0013t0012g0002 a0001c0013t0012g0099 a0001c0013t0015g0090 a0001c0014t0032g0047 a0001c0014t0032g0048 a0001c0014t0059g0122 a0001c0014t0076g0241 a0001c0015t0005g0034 a0001c0015t0012g0005 a0001c0016t0027g0201 a0001c0016t0027g0210 a0001c0016t0060g0172 a0001c0020t0037g0006 a0001c0021t0001g0133 a0001c0021t0056g0149 a0001c0022t0048g0168 a0001c0022t0073g0238 a0001c0023t0036g0249 a0001c0023t0036g0250 a0001c0029t0018g0240 a0001c0030t0019g0152 a0001c0031t0010g0257 a0001c0032t0010g0259 a0001c0033t0064g0194 a0001c0034t0003g0219 a0001c0035t0074g0235 a0001c0036t0013g0248 a0001c0037t0010g0260 a0001c0038t0038g0255 a0001c0039t0066g0207 a0001c0040t0005g0016 a0001c0041t0003g0243 a0001c0042t0003g0220 a0001c0043t0068g0209 a0001c0044t0045g0013 a0001c0045t0001g0169 a0001c0046t0017g0036 a0001c0047t0027g0208 a0003c0007t0009g0175 a0003c0007t0009g0177 a0003c0007t0009g0178 a0003c0007t0009g0182 a0003c0007t0009g0183 a0003c0007t0009g0185 a0003c0007t0023g0116 a0003c0007t0024g0186 a0003c0007t0041g0035 a0004c0012t0011g0157 a0004c0012t0011g0158 a0004c0012t0024g0155 a0004c0012t0024g0156 a0004c0012t0052g0162 a0005c0027t0014g0188 a0005c0027t0023g0179 a0005c0055t0014g0176 a0005c0066t0014g0180 a0006c0018t0031g0010 a0006c0018t0051g0164 a0006c0018t0071g0261 a0006c0064t0053g0148 a0007c0019t0014g0174 a0007c0019t0030g0032 a0007c0019t0030g0033 a0009c0028t0011g0160 a0009c0028t0011g0161 a0010c0059t0009g0054 a0012c0051t0069g0245 a0013c0056t0011g0089 a0014c0065t0031g0015 a0015c0052t0011g0159 a0016c0062t0023g0181 a0018c0063t0042g0014 a0019c0058t0009g0187 a0020c0057t0009g0184 a0021c0053t0011g0163	243	271	0.8967	-119	c.222 others(17): Show c.222+1751_222+1869del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	4/13			chr5	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(112): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01074.hp2 others(66): Show HG00408.hp1 HG00544.hp2 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18973.hp2 NA18978.hp1 NA18985.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19030.hp2 NA19064.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001 a0002c0002t0001 a0002c0002t0007 a0005c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0003g0012 a0001c0001t0004g0082 a0001c0008t0001g0083 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0085 a0002c0002t0007g0001 a0005c0007t0001g0001	69	408	0.1691	-119	c.-54 others(9): Show c.-549_-431del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		342		chr7	TogoVar
ZMAT4_chr8_40525590_40902826	40601586	GAAAGAAA others(112): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	228	0.0044	-119	c.578 others(19): Show c.578-20444_578-20326del	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393787	GGGGGGAA others(112): Show GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0169 a0001c0001t0137g0169	1	346	0.0029	-119	c.181 others(21): Show c.1811-13603_1811-13485del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF713_chr7_55882456_55947225	55887713	AGGCGGAG others(112): Show AGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCG GGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGG GCGGCGGGCGGCGGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02080.hp1 others(9): Show HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02257.hp2 HG02630.hp1 HG03209.hp1 HG03486.hp2 HG03688.hp2 NA18906.hp1 NA18945.hp2 NA18955.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0052 a0001c0001t0069 a0001c0002t0011	a0001c0001t0002g0242 a0001c0001t0002g0348 a0001c0001t0008g0165 others(9): Show a0001c0001t0002g0242 a0001c0001t0002g0348 a0001c0001t0008g0165 a0001c0001t0013g0349 a0001c0001t0017g0347 a0001c0001t0019g0270 a0001c0001t0019g0271 a0001c0001t0024g0247 a0001c0001t0024g0248 a0001c0001t0052g0183 a0001c0001t0069g0249 a0001c0002t0011g0178	12	410	0.0293	-119	c.-58 others(16): Show c.-583+39_-583+157del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCG1_chr21_42214140_42302244	42283900	CCCCGCCC others(111): Show CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCC GCCTGGACAGTTGCGAAGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0318 a0001c0001t0026g0318	1	354	0.0028	-118	c.735 others(15): Show c.735-656_735-539del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1117636	GTTCCTCC others(111): Show GTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTAACCCTGAGCCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	337	0.0030	-118	c.246 others(17): Show c.246+7429_246+7546del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1238371	TCCCTGCA others(111): Show TCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0081 a0001c0001t0056g0081	1	106	0.0094	-118	c.136 others(19): Show c.1361+3642_1361+3759del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238847	CCCCTCTC others(111): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCT CTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0056 a0002c0002t0046g0056	1	106	0.0094	-118	c.136 others(19): Show c.1361+3166_1361+3283del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238895	CCCTGCAT others(111): Show CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	106	0.0094	-118	c.136 others(19): Show c.1361+3118_1361+3235del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558488	CACACACC others(111): Show CACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTGTGGGTG CTCAGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTT CTGTGGGTGCTCAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01243.hp1 others(18): Show HG00408.hp2 HG00639.hp1 HG01243.hp1 HG01433.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0011 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0050 a0001c0001t0059 a0001c0001t0061 a0001c0003t0001 a0001c0003t0045 a0002c0002t0007 a0002c0002t0038 a0002c0002t0046 a0002c0002t0053 a0005c0011t0006 a0007c0014t0020	a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0003g0097 others(18): Show a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0003g0097 a0001c0001t0009g0055 a0001c0001t0011g0026 a0001c0001t0018g0027 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0030g0034 a0001c0001t0050g0077 a0001c0001t0059g0092 a0001c0001t0061g0087 a0001c0003t0001g0052 a0001c0003t0045g0057 a0002c0002t0007g0001 a0002c0002t0038g0048 a0002c0002t0046g0056 a0002c0002t0053g0106 a0005c0011t0006g0014 a0007c0014t0020g0037	21	106	0.1981	-118	c.100 others(21): Show c.100+178445_100+178562del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRV1_chr5_90553797_91169437	90846172	TAAGTTAC others(111): Show TAAGTTACAAAGAGAGTGATAATGTAGGTTGGTAGATGGGGCATAGTGTA AGAATCATAGAGCTTGAAACAGATAAATCATTTCAAGGTTGTCATAAGTT CACTGATAAAGTTACATGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02647.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02818.hp2 HG03195.hp2 HG03453.hp1 NA20300.hp2	a0011 a0012 a0045 others(2): Show a0011 a0012 a0045 a0058 a0061	a0011c0056 a0011c0057 a0012c0013 others(3): Show a0011c0056 a0011c0057 a0012c0013 a0045c0023 a0058c0064 a0061c0074	a0011c0056t0001 a0011c0057t0001 a0012c0013t0001 others(3): Show a0011c0056t0001 a0011c0057t0001 a0012c0013t0001 a0045c0023t0006 a0058c0064t0001 a0061c0074t0001	a0011c0056t0001g0023 a0011c0057t0001g0026 a0012c0013t0001g0022 others(4): Show a0011c0056t0001g0023 a0011c0057t0001g0026 a0012c0013t0001g0022 a0012c0013t0001g0024 a0045c0023t0006g0155 a0058c0064t0001g0050 a0061c0074t0001g0156	7	158	0.0443	-118	c.170 others(21): Show c.17020-2403_17020-2286del	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	78/89		INFO_REALIGN_3_PRIME	chr5	TogoVar

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