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
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18944.hp1 HG03139.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0288 a0001c0003t0003g0048 a0001c0001t0003g0288 a0001c0003t0003g0048	2	296	0.0068	40	c.39 others(51): Show c.3980_*3981insATATATATATATATATATATATATATATATATAT ATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02451.hp2 HG02486.hp1 others(2): Show HG02132.hp1 HG02451.hp2 HG02486.hp1 HG02970.hp2 NA18992.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0008 a0002c0004 others(1): Show a0001c0002 a0001c0008 a0002c0004 a0004c0009	a0001c0002t0001 a0001c0008t0002 a0002c0004t0002 others(1): Show a0001c0002t0001 a0001c0008t0002 a0002c0004t0002 a0004c0009t0002	a0001c0002t0001g0188 a0001c0008t0002g0071 a0001c0008t0002g0074 others(2): Show a0001c0002t0001g0188 a0001c0008t0002g0071 a0001c0008t0002g0074 a0002c0004t0002g0281 a0004c0009t0002g0254	5	50	0.1000	40	c.39 others(51): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA TATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0019 a0030c0050t0001g0019	1	43	0.0233	40	c.121 others(59): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATATATATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DST_chr6_56609597_56647889	56636394	G G	GTATGTGT others(33): Show GTATGTGTGTATATATATACACACATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	323	0.0031	40	c.144 others(57): Show c.1449+123_1449+162dupTATATATACACATATATGTGTGTATATA TATACACACATA	DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	9/23			chr6	TogoVar
DTD1_chr20_18583054_18771644	18610914	A A	ACTCCTGT others(33): Show ACTCCTGTCATTACAGCGTGGGACTGTATCTCCTCCCCTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(125): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18950.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0031 a0001c0005t0005	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0002 others(123): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0369 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0387 a0001c0001t0009g0001 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0062 a0001c0001t0009g0064 a0001c0001t0015g0044 a0001c0001t0015g0057 a0001c0001t0015g0125 a0001c0001t0016g0029 a0001c0001t0016g0030 a0001c0001t0021g0059 a0001c0001t0021g0077 a0001c0001t0031g0095 a0001c0005t0005g0009	128	396	0.3232	40	c.370 others(59): Show c.370+14673_370+14674insCTCCTGTCATTACAGCGTGGGACTGT ATCTCCTCCCCTTG	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	3/5			chr20	TogoVar
DTD1_chr20_18583054_18771644	18708186	A A	ATATATAT others(33): Show ATATATATATTATATATATTAAATATATATTACATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG02027.hp2 others(19): Show HG00673.hp1 HG01928.hp2 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02165.hp2 NA18747.hp1 NA18946.hp1 NA18950.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18999.hp1 NA19066.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 others(19): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0369	22	396	0.0556	40	c.478 others(59): Show c.478-35896_478-35895insTAAATATATATTACATATATATTATA TATATTATATATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18708207	T T	TAAATATA others(33): Show TAAATATATATTACATATATATTATATATATTATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	391	0.0026	40	c.478 others(59): Show c.478-35893_478-35892insAAATATATATTACATATATATTATAT ATATTATATATATA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	30	0.0333	40	c.149 others(57): Show c.149-3469_149-3468insATATATATATATATATATATATATATAT TTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25416809	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	162	0.0062	40	c.157 others(59): Show c.1575+2705_1575+2706insGCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTWD2_chr5_118831074_118993547	118945774	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	47	0.0213	40	c.219 others(57): Show c.219-1126_219-1125insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DUOX1_chr15_45124994_45170574	45142767	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18971.hp2 NA18975.hp1 others(8): Show NA18747.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18998.hp2 NA18999.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19081.hp2	a0002 a0022 a0002 a0022	a0002c0002 a0022c0028 a0002c0002 a0022c0028	a0002c0002t0003 a0002c0002t0005 a0022c0028t0009 a0002c0002t0003 a0002c0002t0005 a0022c0028t0009	a0002c0002t0003g0007 a0002c0002t0003g0038 a0002c0002t0003g0039 others(8): Show a0002c0002t0003g0007 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0043 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0224 a0002c0002t0003g0236 a0002c0002t0003g0335 a0002c0002t0005g0051 a0022c0028t0009g0007	11	171	0.0643	40	c.182 others(57): Show c.1823-402_1823-401insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68020851	G G	GTATGTAT others(33): Show GTATGTATGTGTATATATATATATATATATATATACGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	174	0.0057	40	c.-25 others(51): Show c.-2599_-2598insTATGTATGTGTATATATATATATATATATATATA CGTATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2432		chr16	TogoVar
DUSP7_chr3_52043919_52061571	52051565	C C	CAACGAGG others(33): Show CAACGAGGAAACAGACACAGAGACAAAGTGGCAAGCCCAAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0058 a0001c0001t0021g0058	1	382	0.0026	40	c.953 others(55): Show c.953-483_953-444dupCTTGGGCTTGCCACTTTGTCTCTGTGTCTG TTTCCTCGTT	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding	2/2			chr3	TogoVar
DVL1_chr1_1330278_1354418	1339884	A A	ACAGCCGC others(33): Show ACAGCCGCATGTCCCCCCAGCAGCCCCCACAGACCCACCCG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	42	0.0238	40	c.910 others(53): Show c.910-73_910-72insCGGGTGGGTCTGTGGGGGCTGCTGGGGGGACA TGCGGCTG	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	8/14			chr1	TogoVar
DVL1_chr1_1330278_1354418	1349978	A A	AGGAGTGA others(33): Show AGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02071.hp1 NA18959.hp1 others(3): Show HG02027.hp1 HG02071.hp1 NA18959.hp1 NA18970.hp1 NA18982.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0004t0002 a0001c0001t0002 a0001c0001t0009 a0001c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0009g0059 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0009g0059 a0001c0004t0002g0057	6	292	0.0205	40	c.-91 others(49): Show c.-914_-913insCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCA CTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		561		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350006	A A	AGGAGCGA others(33): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02922.hp1 HG01123.hp1 HG01891.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0002c0005 a0001c0001 a0001c0019 a0002c0005	a0001c0001t0003 a0001c0019t0003 a0002c0005t0003 a0001c0001t0003 a0001c0019t0003 a0002c0005t0003	a0001c0001t0003g0053 a0001c0019t0003g0063 a0002c0005t0003g0064 a0001c0001t0003g0053 a0001c0019t0003g0063 a0002c0005t0003g0064	3	342	0.0088	40	c.-94 others(49): Show c.-942_-941insAGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCG CTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		589		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350161	G G	GGGGCAGG others(33): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0064 a0002c0005t0003g0064	1	338	0.0030	40	c.-10 others(51): Show c.-1097_-1096insGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CTGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		744		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350254	C C	CGGGGGGA others(33): Show CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0021 a0004c0007t0002g0021	2	341	0.0059	40	c.-11 others(51): Show c.-1190_-1189insACCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACT CCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		837		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350281	G G	GGGGCTGG others(33): Show GGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	333	0.0030	40	c.-12 others(51): Show c.-1217_-1216insGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CAGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		864		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350614	C C	CGGGGGGA others(33): Show CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	340	0.0029	40	c.-15 others(51): Show c.-1550_-1549insACCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACT CCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1197		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350654	C C	CGGGGGGA others(33): Show CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18985.hp2 HG02080.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	340	0.0059	40	c.-15 others(51): Show c.-1590_-1589insACCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACT CCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1237		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350657	G G	GGGGAGTG others(33): Show GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA18966.hp2 HG01346.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0049 a0001c0001t0003g0050	2	342	0.0058	40	c.-15 others(51): Show c.-1593_-1592insACCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTC ACTCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1240		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350694	C C	CGGGGGGA others(33): Show CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02896.hp1 HG03490.hp1 others(5): Show HG00558.hp2 HG02896.hp1 HG03490.hp1 HG04115.hp2 NA18943.hp1 NA18948.hp2 NA19009.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0024 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0024 a0004c0007t0002g0021	8	338	0.0237	40	c.-16 others(51): Show c.-1630_-1629insACCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACT CCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1277		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350737	G G	GGGGAGTG others(33): Show GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02155.hp1 HG02132.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0042 a0001c0001t0003g0014 a0001c0001t0003g0042	2	342	0.0058	40	c.-16 others(51): Show c.-1673_-1672insACCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTC ACTCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1320		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350966	A A	AGGAGCGA others(33): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	340	0.0029	40	c.-19 others(51): Show c.-1902_-1901insAGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1549		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351017	G G	GGGGAGTG others(33): Show GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	340	0.0029	40	c.-19 others(51): Show c.-1953_-1952insACCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTC ACTCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1600		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351057	G G	GGGGAGTG others(33): Show GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	342	0.0029	40	c.-19 others(51): Show c.-1993_-1992insACCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTC ACTCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1640		chr1	TogoVar
DVL1_chr1_1330278_1354418	1351281	C C	CGGGCAGG others(33): Show CGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	312	0.0032	40	c.-22 others(51): Show c.-2217_-2216insCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTC CTGCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1864		chr1	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(33): Show CTCCTCTCCTCTCCTCTCCTCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	187	0.0053	40	c.763 others(59): Show c.763+14217_763+14218insAGGAAGGAAGGAAGGAAGGAGAGGAG AGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440978	A A	ATTATATA others(33): Show ATTATATAATATATAATATATTTATATAAATATATTATATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00642.hp1 others(34): Show HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02886.hp1 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 NA18946.hp1 NA18961.hp1 NA18971.hp1 NA18992.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0007t0002	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0010 others(34): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0010 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0004g0258 a0001c0001t0005g0121 a0001c0001t0005g0254 a0001c0001t0005g0263 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0013g0070 a0001c0001t0013g0093 a0001c0001t0028g0270 a0001c0001t0031g0114 a0001c0001t0035g0257 a0001c0007t0002g0084	37	279	0.1326	40	c.-53 others(59): Show c.-53-10532_-53-10531insAATATAATATATTTATATAAATATAT TATATATTATATAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440978	A A	ATTATATA others(33): Show ATTATATAATATATTATATATTTATATAAATATATTATATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	243	0.0041	40	c.-53 others(59): Show c.-53-10532_-53-10531insAATATAATATATTTATATAAATATAT AATATATTATATAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	66	0.0152	40	c.10+ others(57): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(33): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0122 a0001c0001t0117 a0001c0001t0122	a0001c0001t0117g0211 a0001c0001t0122g0310 a0001c0001t0117g0211 a0001c0001t0122g0310	2	217	0.0092	40	c.72 others(51): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71571372	G G	GCACAGAT others(33): Show GCACAGATCACAGTCAGCACACACAGATCACACCCAGCACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0009 a0001c0006t0003g0009	1	190	0.0053	40	c.317 others(57): Show c.3174+676_3174+715dupGATCACAGTCAGCACACACAGATCACAC CCAGCACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571372	G G	GCACAGAT others(33): Show GCACAGATCACAGTCAGCACACACAGATCACACCCAGCACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0204 a0001c0006t0003g0204	1	206	0.0049	40	c.322 others(57): Show c.3228+676_3228+715dupGATCACAGTCAGCACACACAGATCACAC CCAGCACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	18	0.0556	40	c.696 others(57): Show c.696+1880_696+1881insACACACACACACACACACACACACACAT ACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp2 NA18951.hp1 HG01943.hp2 HG01978.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0110 a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0110	3	20	0.1500	40	c.696 others(57): Show c.696+1880_696+1881insACACACACACACACACACACACTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	18	0.0556	40	c.696 others(57): Show c.696+1880_696+1881insACACACACACACACACACACTCTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19240.hp2 NA19005.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0196 a0001c0001t0001g0071 a0001c0001t0001g0196	2	19	0.1053	40	c.696 others(57): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	18	0.0556	40	c.696 others(57): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	18	0.0556	40	c.696 others(57): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(33): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	18	0.0556	40	c.696 others(57): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	145	0.0069	40	c.-97 others(49): Show c.-977_-976insAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGG CAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	117	0.0085	40	c.-29 others(51): Show c.-2977_-2976insATATATATATATATATATATATATATATATTTTT TTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158851729	G G	GAAGGGAA others(33): Show GAAGGGAAGAGAAAGGAAGGGAAGGGAAGAAAATGGAAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01168.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03710.hp1 HG04184.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0069 a0001c0001t0070 a0001c0001t0086 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0036 a0001c0002t0064	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 others(20): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 a0001c0001t0009g0080 a0001c0001t0011g0096 a0001c0001t0021g0160 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0023g0097 a0001c0001t0027g0104 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0001t0086g0154 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0145 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0006g0022 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0036g0012 a0001c0002t0064g0056	23	196	0.1173	40	c.555 others(59): Show c.555-11659_555-11620dupACCTTCCATTTTCTTCCCTTCCCTTC CTTTCTCTTCCCTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	26005486	A A	ATATATAT others(33): Show ATATATATTATAAAATATAATATATATTTTATAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(89): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18964.hp2 NA18970.hp2 NA18983.hp2 NA18998.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0025 a0001c0002t0040 a0001c0002t0041 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0010 a0001c0005t0008 a0001c0005t0010 a0002c0003t0005 a0002c0003t0007	a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0093 others(89): Show a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0168 a0001c0001t0003g0201 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0133 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0203 a0001c0001t0009g0002 a0001c0001t0012g0162 a0001c0001t0012g0172 a0001c0001t0019g0009 a0001c0001t0021g0020 a0001c0001t0028g0113 a0001c0001t0029g0144 a0001c0001t0030g0116 a0001c0001t0031g0150 a0001c0001t0037g0160 a0001c0001t0042g0220 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0038 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0112 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0008g0152 a0001c0002t0011g0219 a0001c0002t0016g0202 a0001c0002t0017g0001 a0001c0002t0025g0018 a0001c0002t0040g0175 a0001c0002t0041g0192 a0001c0004t0001g0017 a0001c0004t0001g0128 a0001c0004t0003g0204 a0001c0004t0008g0154 a0001c0004t0008g0156 a0001c0004t0010g0007 a0001c0005t0008g0155 a0001c0005t0010g0008 a0002c0003t0005g0145 a0002c0003t0007g0205 a0002c0003t0007g0206	92	125	0.7360	40	c.551 others(59): Show c.551+27598_551+27599insATATATATTATAAAATATATATTATA TTTTATAATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0337 a0001c0001t0026g0337	1	49	0.0204	40	c.554 others(59): Show c.554+39606_554+39607insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(33): Show GGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(60): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18943.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp1 NA18974.hp1 NA18980.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19010.hp2 NA19012.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0023t0001g0084	63	237	0.2658	40	c.-26 others(49): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCG TGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(33): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0246 a0002c0003t0001g0246	1	293	0.0034	40	c.22+ others(55): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA19009.hp1 HG00673.hp1 HG02071.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0001g0159 a0001c0001t0002g0169 a0001c0001t0002g0170	3	50	0.0600	40	c.396 others(59): Show c.396+28889_396+28890insATATATATATATATATATATATATAT GTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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