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
RNFT2_chr12_116733315_116858631	116841784	TATATATA others(103): Show TATATATATAAATATATATATAAATATATATATAAAAATATATATATATA AATATATATATAAATATATATAAAAATATATATATAAATATATATATAAA TATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	265	0.0038	-110	c.120 others(19): Show c.1200+5512_1200+5621del	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3AL_chr17_207389_357807	295247	AGCAGAGG others(103): Show AGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGATGCTGCAGAAAT GGACGGGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCA GAAATGGACGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp1 NA18995.hp2 others(2): Show HG00408.hp1 NA18959.hp1 NA18995.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0026 a0001c0001t0001 a0001c0001t0002 a0001c0004t0026	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0002g0029 a0001c0004t0026g0013	5	124	0.0403	-110	c.352 others(19): Show c.352-13503_352-13394del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191533	TATATATA others(103): Show TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0244 a0001c0001t0018g0244	1	251	0.0040	-110	c.-37 others(11): Show c.-3744_-3635del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3335		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191631	TATATATA others(103): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG01975.hp2 others(5): Show HG00639.hp1 HG01261.hp1 HG01975.hp2 HG02109.hp1 HG02273.hp1 HG02293.hp1 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016	a0001c0001t0002g0076 a0001c0001t0004g0001 a0001c0001t0004g0171 others(3): Show a0001c0001t0002g0076 a0001c0001t0004g0001 a0001c0001t0004g0171 a0001c0001t0004g0179 a0001c0001t0011g0005 a0001c0001t0016g0175	8	270	0.0296	-110	c.-38 others(11): Show c.-3842_-3733del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3433		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(103): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01070.hp1 others(10): Show HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01175.hp2 HG01258.hp1 HG02015.hp2 HG02976.hp2 HG03669.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19057.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0019 a0001c0022 a0001c0024 a0001c0026 a0001c0044 a0001c0076 a0001c0078	a0001c0001t0015 a0001c0002t0015 a0001c0002t0040 others(10): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0040 a0001c0003t0014 a0001c0006t0022 a0001c0013t0021 a0001c0019t0042 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0044t0045 a0001c0076t0011 a0001c0078t0041	a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0040g0108 others(10): Show a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0040g0108 a0001c0003t0014g0105 a0001c0006t0022g0093 a0001c0013t0021g0096 a0001c0019t0042g0092 a0001c0022t0022g0098 a0001c0024t0037g0095 a0001c0026t0043g0099 a0001c0044t0045g0083 a0001c0076t0011g0087 a0001c0078t0041g0103	13	102	0.1275	-110	c.348 others(19): Show c.348+21584_348+21693del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748179	AGGGGCTG others(103): Show AGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTG GATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTT GGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0030g0018 a0001c0007t0030g0020	2	193	0.0104	-110	c.655 others(17): Show c.655-5776_655-5667del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748234	AGGGGCTG others(103): Show AGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTG GATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTT GGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03688.hp1 HG03490.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0001g0186 a0001c0003t0001g0190	2	149	0.0134	-110	c.655 others(17): Show c.655-5643_655-5534del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934763	CAGGGGAG others(103): Show CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0006 a0020 a0006 a0020	a0006c0007 a0020c0028 a0006c0007 a0020c0028	a0006c0007t0022 a0020c0028t0008 a0006c0007t0022 a0020c0028t0008	a0006c0007t0022g0279 a0020c0028t0008g0264 a0006c0007t0022g0279 a0020c0028t0008g0264	2	418	0.0048	-110	c.843 others(16): Show c.843-1008_843-899del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SBK2_chr19_55523611_55542133	55537340	TCAGGAGT others(103): Show TCAGGAGTCCAGGCCCCCAGCGCCTCCTCCCTCAGACCCAGGAATCCAGT CTCCCAGTGCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCC TCCCTCAGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18973.hp2 NA19007.hp2 HG02523.hp1 NA18973.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	3	431	0.0070	-110	c.-39 others(9): Show c.-399_-290del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		208		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537340	TCAGGAGT others(103): Show TCAGGAGTCCAGGCCCCCAGCGCCTCCTCCCTCAGACCCAGGAATCCAGT CTCCCAGTGCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCC TCCCTCAGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18973.hp1 NA19007.hp2 HG02523.hp1 NA18973.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	435	0.0069	-110	c.33 others(11): Show c.3396_*3505del	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3315		chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(103): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02896.hp2 HG03139.hp1 others(3): Show HG00621.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG04228.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0003t0004	a0001c0001t0001g0015 a0001c0001t0001g0188 a0001c0001t0003g0006 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0188 a0001c0001t0003g0006 a0001c0001t0017g0257 a0001c0003t0004g0100 a0001c0003t0004g0267	6	300	0.0200	-110	c.-47 others(11): Show c.-4725_-4616del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCGB1C2_chr17_132569_144067	136289	CCCCTAAC others(103): Show CCCCTAACCAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAAC CCTAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	396	0.0025	-110	c.-13 others(11): Show c.-1301_-1192del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1279		chr17	TogoVar
SCGB1C2_chr17_132569_144067	139560	AGGGCCAC others(103): Show AGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGA AGCACAAGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGGACATCAG GAACACACTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	400	0.0025	-110	c.61 others(9): Show c.619_*728del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		494		chr17	TogoVar
SCGB1D4_chr11_62291281_62304075	62302903	AGATTATC others(103): Show AGATTATCATGTGGTTTTTGTCATTGGTTCTGTTTATGTGATGGATTATA TTTATTGATTTGCATATGTTCAACCCGCCTTTCATCCCAGGGATGAAGCT GACTTGATCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-110	c.-40 others(11): Show c.-4003_-3894del	SCGB1D4	ENSG00000197745.3	transcript	ENST00000358585.3	protein_coding		3829		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288237	TCCCGTGT others(103): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	281	0.0036	-110	c.166 others(17): Show c.1662+227_1662+336del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(103): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18747.hp1 NA19012.hp2 HG02922.hp2 NA18747.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0226 a0002c0002t0001g0043 a0002c0002t0001g0089 a0001c0001t0001g0226 a0002c0002t0001g0043 a0002c0002t0001g0089	3	272	0.0110	-110	c.166 others(17): Show c.1662+240_1662+349del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288641	CCCGTCCC others(103): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19079.hp1 NA18969.hp2 NA19079.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0001 a0009c0013t0001 a0002c0002t0001 a0009c0013t0001	a0002c0002t0001g0053 a0009c0013t0001g0078 a0002c0002t0001g0053 a0009c0013t0001g0078	2	174	0.0115	-110	c.166 others(17): Show c.1662+617_1662+726del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288757	CCGTGTCC others(103): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19240.hp1 NA19007.hp2 NA19240.hp1	a0003 a0014 a0003 a0014	a0003c0004 a0014c0021 a0003c0004 a0014c0021	a0003c0004t0003 a0014c0021t0008 a0003c0004t0003 a0014c0021t0008	a0003c0004t0003g0006 a0014c0021t0008g0269 a0003c0004t0003g0006 a0014c0021t0008g0269	2	283	0.0071	-110	c.166 others(17): Show c.1662+722_1662+831del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETX_chr9_132256356_132359986	132285676	TGGAGACC others(103): Show TGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAC AAAATTTAGTCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 HG02280.hp1 HG03579.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0015 a0015c0028t0015	a0015c0028t0015g0357 a0015c0028t0015g0358 a0015c0028t0015g0357 a0015c0028t0015g0358	2	360	0.0056	-110	c.639 others(17): Show c.6396+637_6396+746del	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	18/25			chr9	TogoVar
SH2D1A_chrX_124341563_124378160	124350619	GATAATAT others(103): Show GATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTAT ATAAGATATAATATATTATATATTGTATATAAGATAATATATTATATATT GTATATAAGAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02109.hp2 others(13): Show HG01081.hp2 HG01243.hp1 HG02109.hp2 HG02257.hp1 HG02622.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03540.hp1 HG03704.hp1 NA18906.hp2 NA19070.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0112 a0001c0001t0006g0260	16	302	0.0530	-110	c.137 others(17): Show c.137+3926_137+4035del	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D5_chr1_20714731_20737703	20734751	AAGGTTTC others(103): Show AAGGTTTCAAAACCAAGTGCATTTATATATTTGAAGGTTTTTAGTTTTAC TTAAAAAAAATGTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-110	c.-27 others(11): Show c.-2723_-2614del	SH2D5	ENSG00000189410.12	transcript	ENST00000444387.7	protein_coding		2049		chr1	TogoVar
SH3BP4_chr2_234947017_235060714	235038266	TATATATA others(103): Show TATATATAATATATATTATATATAATATATATATTATATATATATATTAT ATATTATATATATATTATATATAGTATATATATTTTATATATATATATAT AATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02486.hp2 HG02559.hp1 others(2): Show HG01516.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0004c0005t0002	a0002c0001t0001g0013 a0002c0001t0002g0272 a0002c0001t0002g0337 others(2): Show a0002c0001t0001g0013 a0002c0001t0002g0272 a0002c0001t0002g0337 a0002c0001t0003g0023 a0004c0005t0002g0010	5	340	0.0147	-110	c.119 others(17): Show c.119-2614_119-2505del	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISA7_chr19_55423740_55448300	55437905	ACCTCAGA others(103): Show ACCTCAGACCCAGGAATTCAGGCCTCAGCCCCGCCTCCCTCAGACCCAGG AGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCTGC AGCCCCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	370	0.0027	-110	c.827 others(15): Show c.827-261_827-152del	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	2/3			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1080186	CGGAGCCA others(103): Show CGGAGCCACGCAGAGGCTCTACCCCCACGCCCTCCACCCGCGGCGCGGAG ACACCAGGAGCCACGCAGAGGCTCTGCCCCCACGCCCTCCACCCACGGCG CGGAGACACCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(98): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18967.hp1 NA18967.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(30): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0035 a0002c0002 a0002c0004 a0002c0008 a0002c0011 a0002c0012 a0002c0015 a0002c0016 a0002c0022 a0002c0024 a0002c0025 a0002c0026 a0002c0034 a0002c0038 a0003c0027 a0005c0037 a0006c0019 a0007c0021 a0008c0036	a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 others(47): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0003t0003 a0001c0003t0017 a0001c0005t0002 a0001c0005t0009 a0001c0005t0013 a0001c0006t0001 a0001c0006t0011 a0001c0006t0021 a0001c0009t0002 a0001c0009t0006 a0001c0009t0010 a0001c0013t0003 a0001c0013t0007 a0001c0014t0003 a0001c0018t0020 a0001c0020t0001 a0001c0028t0002 a0001c0029t0007 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0035t0001 a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0002c0004t0022 a0002c0008t0002 a0002c0008t0004 a0002c0011t0002 a0002c0012t0003 a0002c0012t0024 a0002c0015t0015 a0002c0016t0001 a0002c0016t0010 a0002c0022t0016 a0002c0024t0002 a0002c0025t0004 a0002c0026t0004 a0002c0034t0002 a0002c0038t0014 a0003c0027t0004 a0005c0037t0003 a0006c0019t0009 a0007c0021t0004 a0008c0036t0001	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0038 others(98): Show a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0007g0090 a0001c0001t0018g0096 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0014 a0001c0003t0003g0019 a0001c0003t0003g0071 a0001c0003t0017g0018 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0005t0009g0004 a0001c0005t0013g0077 a0001c0006t0001g0028 a0001c0006t0001g0048 a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0021g0104 a0001c0009t0002g0114 a0001c0009t0006g0017 a0001c0009t0006g0064 a0001c0009t0010g0081 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0014t0003g0093 a0001c0018t0020g0076 a0001c0020t0001g0089 a0001c0028t0002g0107 a0001c0029t0007g0012 a0001c0030t0001g0105 a0001c0031t0003g0007 a0001c0032t0001g0112 a0001c0035t0001g0054 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0110 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0041 a0002c0004t0001g0070 a0002c0004t0001g0092 a0002c0004t0022g0087 a0002c0008t0002g0062 a0002c0008t0002g0063 a0002c0008t0002g0068 a0002c0008t0004g0080 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0002c0012t0003g0073 a0002c0012t0003g0075 a0002c0012t0024g0074 a0002c0015t0015g0085 a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0022t0016g0065 a0002c0024t0002g0060 a0002c0025t0004g0061 a0002c0026t0004g0086 a0002c0034t0002g0091 a0002c0038t0014g0118 a0003c0027t0004g0029 a0005c0037t0003g0008 a0006c0019t0009g0013 a0007c0021t0004g0084 a0008c0036t0001g0097	101	116	0.8707	-110	c.129 others(17): Show c.1298-800_1298-691del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	9/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1080225	GCGGCGCG others(103): Show GCGGCGCGGAGACACCAGGAGCCACGCAGAGGCTCTGCCCCCACGCCCTC CACCCACGGCGCGGAGACACCAGGAGCCACGCAGAGGCTCTGCCCCCACG CCCTCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0010 a0002c0023t0004g0010	1	118	0.0085	-110	c.129 others(17): Show c.1298-839_1298-730del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	9/23			chr5	TogoVar
SLC17A9_chr20_62947709_62974585	62966013	CTGGGGCT others(103): Show CTGGGGCTCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTG GGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGC CAGTGGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02717.hp1 HG00738.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0039 a0001c0001t0016g0039	2	430	0.0047	-110	c.106 others(17): Show c.1062-275_1062-166del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A12_chr2_171778405_171899244	171808201	TCATGCTT others(103): Show TCATGCTTACACTTTAAAGACAGAAACCTTTGTGCGCTAAGTAAATATCT GAGTCTCTTGGTTCAGAATTTCTGTCAATAGCTGAAATGTAGTTACCGTT ATTATTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(68): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01261.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03579.hp2 HG03669.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 others(68): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0004g0146 a0001c0001t0008g0004 a0001c0001t0009g0170	71	312	0.2276	-110	c.130 others(19): Show c.1305+1295_1305+1404del	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	13/17			chr2	TogoVar
SLC39A14_chr8_22362278_22427736	22396429	AGAGAGAG others(103): Show AGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00733.hp2 others(13): Show HG00438.hp1 HG00642.hp1 HG00733.hp2 HG01074.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp1 HG06807.hp1 NA18906.hp2 NA18956.hp1 NA18965.hp1 NA18966.hp2 NA18985.hp2 NA19009.hp1 NA19074.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0007 a0002c0006 others(1): Show a0001c0003 a0001c0007 a0002c0006 a0003c0001	a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 others(3): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0005 a0002c0006t0007 a0003c0001t0001	a0001c0003t0001g0010 a0001c0003t0001g0028 a0001c0003t0004g0235 others(13): Show a0001c0003t0001g0010 a0001c0003t0001g0028 a0001c0003t0004g0235 a0001c0003t0005g0232 a0001c0007t0005g0227 a0002c0006t0007g0206 a0003c0001t0001g0001 a0003c0001t0001g0096 a0003c0001t0001g0097 a0003c0001t0001g0101 a0003c0001t0001g0111 a0003c0001t0001g0135 a0003c0001t0001g0145 a0003c0001t0001g0148 a0003c0001t0001g0149 a0003c0001t0001g0159	16	321	0.0498	-110	c.-15 others(17): Show c.-15-8247_-15-8138del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102320433	TATGAGAA others(103): Show TATGAGAATATATATATGAGAGTATATATACATATGAGAATATATATATG AGAGTATATATATATGAGAATATATATATGAGAGTATATATATATGAGAA TATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01167.hp2 others(4): Show HG00642.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp2 HG02109.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0006 a0001c0001t0001 a0001c0001t0002 a0001c0011t0006	a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0011t0006g0082	7	254	0.0276	-110	c.220 others(17): Show c.220-4713_220-4604del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLX9_chr21_44935029_44981973	44978596	CGTGTGGA others(103): Show CGTGTGGAACGTGTGTGGGGCGCGTGTGGAGCGGGTGTGGGGCGGGTGTG GGGCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCAC GTGTGGAACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(35): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02300.hp2 HG04199.hp2 NA18952.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0002c0002t0001g0003 a0002c0002t0001g0200 a0002c0002t0001g0201 others(23): Show a0002c0002t0001g0003 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0224 a0002c0002t0001g0225 a0003c0003t0001g0017 a0003c0003t0001g0178 a0003c0003t0001g0212 a0003c0003t0001g0214 a0004c0004t0001g0018 a0004c0004t0001g0043 a0004c0004t0001g0216 a0004c0004t0001g0217 a0004c0004t0001g0219 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0223	38	318	0.1195	-110	c.17 others(11): Show c.1794_*1903del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1624		chr21	TogoVar
SMOC2_chr6_168436184_168672992	168614746	GGCCTCTT others(103): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCA GCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACACCTA CAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	147	0.0068	-110	c.907 others(17): Show c.907+6509_907+6618del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX29_chr16_11971734_12579287	12353402	GCTGCCAA others(103): Show GCTGCCAAGCCTGCTAAGTGCGGCATCTCTTGCCATCCTCACAGTGGCCT GGTGAAATGGGTGTGGTTTTTAATGCCCATTTCATAGACGCACAGCCACA GGCTCATACCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(5): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013	a0001c0001t0007 a0001c0001t0028 a0001c0001t0053 others(5): Show a0001c0001t0007 a0001c0001t0028 a0001c0001t0053 a0001c0001t0061 a0001c0002t0018 a0001c0002t0085 a0001c0004t0078 a0001c0013t0092	a0001c0001t0007g0150 a0001c0001t0028g0123 a0001c0001t0053g0121 others(5): Show a0001c0001t0007g0150 a0001c0001t0028g0123 a0001c0001t0053g0121 a0001c0001t0061g0039 a0001c0002t0018g0037 a0001c0002t0085g0147 a0001c0004t0078g0054 a0001c0013t0092g0126	8	174	0.0460	-110	c.178 others(19): Show c.1783-2760_1783-2651del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20			chr16	TogoVar
SOX11_chr2_5687384_5706385	5706274	AGGGAGGC others(103): Show AGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAG GCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGG GTGGAGAAGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA18968.hp1 NA18977.hp2 others(3): Show HG01123.hp1 NA18968.hp1 NA18977.hp2 NA18986.hp1 NA18989.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0040 a0001c0001t0105 a0001c0001t0008 a0001c0001t0040 a0001c0001t0105	a0001c0001t0008g0000 a0001c0001t0040g0000 a0001c0001t0105g0000 a0001c0001t0008g0000 a0001c0001t0040g0000 a0001c0001t0105g0000	6	427	0.0141	-110	c.12 others(13): Show c.12228_*12337del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4890		chr2	TogoVar
STIM1_chr11_3850664_4098208	3895661	TCTTTCTT others(103): Show TCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	291	0.0034	-110	c.139 others(19): Show c.139+39256_139+39365del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF13_chr1_109059140_109081003	109071973	TATACACA others(103): Show TATACACACATATATATATATATATATATATATATATATATACACACACA TATATATATATATATATATATACACACACATATATATATATATATATATA TATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0091 a0001c0001t0007g0100 a0001c0001t0005g0091 a0001c0001t0007g0100	2	404	0.0050	-110	c.106 others(17): Show c.106+2904_106+3013del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TENM1_chrX_124370903_125209312	124849492	GGCCACGT others(103): Show GGCCACGTGACAAAAACTGGAGAACAGTCTCTAGTAGTTGAGAGTGACCC CTGGCTGACAGCCAACAAGAAAATAGAAACTTCAGTCCTATAATCAAGGG AACTGAATTCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02559.hp1 others(6): Show HG02109.hp1 HG02258.hp1 HG02559.hp1 HG03130.hp1 HG03209.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0033 a0002c0031 a0008c0009 a0009c0032	a0001c0001t0001 a0001c0003t0005 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0003t0005 a0001c0007t0001 a0001c0007t0002 a0001c0007t0012 a0001c0033t0006 a0002c0031t0015 a0008c0009t0027 a0009c0032t0007	a0001c0001t0001g0057 a0001c0003t0005g0114 a0001c0007t0001g0020 others(6): Show a0001c0001t0001g0057 a0001c0003t0005g0114 a0001c0007t0001g0020 a0001c0007t0002g0077 a0001c0007t0012g0118 a0001c0033t0006g0076 a0002c0031t0015g0094 a0008c0009t0027g0140 a0009c0032t0007g0120	9	138	0.0652	-110	c.535 others(19): Show c.535+44694_535+44803del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	6/34			chrX	TogoVar
TFEB_chr6_41678978_41740608	41738155	TACATATA others(103): Show TACATATATATGCATATATATATACATATATATATGCATATATATATGCA TATATATATGCATATATATATGCATATATATATGTATATATATATGCATA TATATATATGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(97): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0004c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0004c0009t0002 a0005c0011t0001	a0001c0001t0001g0023 a0001c0001t0001g0187 a0001c0001t0001g0194 others(90): Show a0001c0001t0001g0023 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0022 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0003g0119 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0201 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0250 a0001c0001t0012g0355 a0001c0002t0001g0020 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0207 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0244 a0001c0002t0001g0349 a0001c0003t0001g0169 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0189 a0001c0003t0001g0204 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0004g0021 a0001c0004t0002g0003 a0001c0004t0002g0024 a0001c0004t0002g0117 a0001c0004t0002g0171 a0001c0004t0002g0180 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0188 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0198 a0001c0004t0002g0199 a0001c0004t0002g0202 a0001c0004t0002g0203 a0001c0004t0002g0205 a0001c0004t0002g0206 a0001c0004t0002g0208 a0001c0004t0002g0210 a0001c0004t0002g0213 a0001c0004t0002g0215 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0226 a0001c0004t0002g0234 a0001c0004t0002g0237 a0001c0004t0002g0238 a0001c0004t0002g0243 a0001c0004t0006g0003 a0001c0005t0001g0118 a0001c0005t0001g0221 a0001c0005t0001g0225 a0004c0009t0002g0183 a0005c0011t0001g0229	100	394	0.2538	-110	c.-29 others(11): Show c.-2938_-2829del	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2548		chr6	TogoVar
TMEM117_chr12_43831081_44394758	44311777	GTGTATAT others(103): Show GTGTATATATGTATATATATGTATATATGTATATATGTATATATATGTAT ATATGTATATATGTATATATATGTATATATGTATATATATGTATATATAT GTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	74	0.0135	-110	c.768 others(19): Show c.768+12040_768+12149del	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129190234	AGGCCTGC others(103): Show AGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGG GTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGA GGGGTCTTGGG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	92	0.0109	-110	c.144 others(21): Show c.1443+19176_1443+19285del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM71_chr8_132704941_132765582	132746378	TATATATA others(103): Show TATATATATACATATATATATACATATATATATACACACACATATATATA CATATATATATACATATACATATACATATATATATACATATATATATACA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(22): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18972.hp2 NA18978.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0130 a0001c0001t0001g0296 a0001c0001t0001g0298 others(16): Show a0001c0001t0001g0130 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0003g0006 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0007g0031 a0001c0001t0008g0295	25	376	0.0665	-110	c.487 others(15): Show c.487+454_487+563del	TMEM71	ENSG00000165071.15	transcript	ENST00000677595.1	protein_coding	5/9			chr8	TogoVar
TMPRSS2_chr21_41459305_41513158	41474781	GGGGTGGG others(103): Show GGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGGGGTGA GTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGGGGGT GGGTGAGGGGT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	375	0.0027	-110	c.728 others(17): Show c.728-1395_728-1286del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474783	GGTGGGTG others(103): Show GGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGGGGTGAGT GAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGGGGGTGG GTGAGGGGTGG	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	372	0.0027	-110	c.728 others(17): Show c.728-1397_728-1288del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41475529	GGTGAAGG others(103): Show GGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGAGGTGACGGGGT GGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAGGAGGTGAGTGA GGGTTGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02615.hp1 HG02074.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0196 a0001c0001t0001g0094 a0001c0001t0001g0196	2	380	0.0053	-110	c.727 others(16): Show c.727+938_727+1047del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS4_chr11_118072078_118126890	118096914	AGAGAGAA others(103): Show AGAGAGAAAGGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAGGAAAGAAAG AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG03209.hp2 HG01891.hp1 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0012g0288 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0012g0288	3	404	0.0074	-110	c.43+ others(15): Show c.43+2060_44-1961del	TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097385	GTATATAC others(103): Show GTATATACATATACATATGTACACACGTGTGTATATATACATATGTACAC ACGTGTGTATATATACATATGTACACACGTGTGTATATATACATATGTAC ACACGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	177	0.0056	-110	c.-47 others(11): Show c.-4714_-4605del	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4579		chr20	TogoVar
TTC23L_chr5_34834164_34905511	34855144	GAACCTGG others(103): Show GAACCTGGAAAGGAGAAGGGTACATTGGGCAGGCTAAGGTTAGGACTGGT AAGATGAACCTGGAAAGGAGAAGGGTACATTGGGCAGGCTAAGGTTAGGA CTGGTAAGATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00609.hp1 others(124): Show HG00323.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18956.hp1 NA18965.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19080.hp1 NA19082.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0002c0002 a0002c0007 others(10): Show a0001c0001 a0002c0002 a0002c0007 a0002c0018 a0003c0005 a0004c0006 a0005c0004 a0006c0011 a0006c0019 a0007c0012 a0007c0017 a0008c0010 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(15): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0007t0001 a0002c0018t0001 a0003c0005t0001 a0003c0005t0007 a0004c0006t0002 a0004c0006t0003 a0005c0004t0001 a0006c0011t0001 a0006c0019t0001 a0007c0012t0001 a0007c0017t0001 a0008c0010t0001 a0010c0013t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0141 others(120): Show a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0002c0002t0001g0005 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0139 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0226 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0303 a0002c0002t0001g0311 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0354 a0002c0002t0001g0359 a0002c0002t0002g0038 a0002c0002t0002g0115 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0228 a0002c0002t0002g0237 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0286 a0002c0002t0002g0302 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0331 a0002c0002t0002g0340 a0002c0002t0002g0346 a0002c0002t0003g0027 a0002c0002t0013g0235 a0002c0007t0001g0229 a0002c0018t0001g0113 a0003c0005t0001g0116 a0003c0005t0001g0281 a0003c0005t0001g0300 a0003c0005t0001g0301 a0003c0005t0007g0238 a0004c0006t0002g0227 a0004c0006t0002g0270 a0004c0006t0003g0028 a0004c0006t0003g0029 a0004c0006t0003g0031 a0005c0004t0001g0063 a0005c0004t0001g0225 a0005c0004t0001g0312 a0005c0004t0001g0360 a0006c0011t0001g0007 a0006c0011t0001g0055 a0006c0019t0001g0358 a0007c0012t0001g0025 a0007c0012t0001g0357 a0007c0017t0001g0066 a0008c0010t0001g0313 a0008c0010t0001g0324 a0008c0010t0001g0325 a0010c0013t0001g0060	127	390	0.3256	-110	c.379 others(17): Show c.379+4870_379+4979del	TTC23L	ENSG00000205838.15	transcript	ENST00000505624.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
TTLL8_chr22_50013575_50063298	50026295	AGCCGCCA others(103): Show AGCCGCCACCTCAGAGGGGAGGGTCAGACACAGAAATACGCCTGCCACTC TGCACAGCCACCACCTCAGAGTGGAGGGTCAGACACGGAAATACACCCGC CATTCTGCACC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(68): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19067.hp2 NA19070.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0010 a0014 a0016 a0017 a0021	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0025 a0006c0006 a0006c0023 a0010c0009 a0014c0011 a0016c0022 a0017c0016 a0021c0013	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0025t0002 a0006c0006t0002 a0006c0023t0002 a0010c0009t0001 a0014c0011t0002 a0016c0022t0002 a0017c0016t0002 a0021c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0051 others(65): Show a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0189 a0001c0001t0002g0040 a0001c0001t0002g0041 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0146 a0003c0003t0002g0016 a0004c0004t0001g0023 a0004c0004t0001g0079 a0004c0004t0001g0124 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0142 a0004c0004t0001g0145 a0004c0004t0001g0178 a0004c0004t0001g0190 a0004c0004t0002g0005 a0004c0004t0002g0017 a0004c0004t0002g0020 a0004c0004t0002g0024 a0004c0004t0002g0025 a0004c0004t0002g0026 a0004c0004t0002g0036 a0004c0004t0002g0037 a0004c0004t0002g0077 a0004c0004t0002g0119 a0004c0004t0002g0121 a0004c0004t0002g0161 a0004c0004t0002g0162 a0004c0004t0002g0167 a0004c0004t0002g0186 a0004c0004t0003g0191 a0004c0004t0003g0193 a0004c0004t0004g0215 a0004c0025t0002g0047 a0006c0006t0002g0002 a0006c0006t0002g0010 a0006c0006t0002g0012 a0006c0006t0002g0014 a0006c0006t0002g0029 a0006c0006t0002g0030 a0006c0006t0002g0038 a0006c0006t0002g0042 a0006c0006t0002g0044 a0006c0006t0002g0046 a0006c0006t0002g0107 a0006c0006t0002g0127 a0006c0006t0002g0158 a0006c0006t0002g0175 a0006c0023t0002g0108 a0010c0009t0001g0059 a0010c0009t0001g0116 a0014c0011t0002g0058 a0016c0022t0002g0117 a0017c0016t0002g0021 a0021c0013t0001g0061	71	222	0.3198	-110	c.225 others(19): Show c.2251+4025_2251+4134del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23044459	ATAACCCC others(103): Show ATAACCCCACCCGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCT GGCCAGAGGTGCTGGGGGGATTTCATAACCTAACCTGGCCAGAGGTGCTG GGGGGATATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18955.hp2 NA18964.hp2 others(3): Show HG02040.hp2 NA18955.hp2 NA18964.hp2 NA18966.hp2 NA19057.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0209	6	339	0.0177	-110	c.-50 others(11): Show c.-5026_-4917del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4891		chr15	TogoVar
UBE2V1_chr20_50076124_50118150	50117805	GGGCAACA others(103): Show GGGCAACAAAGCGAAACTCCATCTAAAAACAAACAAACAAACAAACAAAC AAACAAACAGGATGTGTGATGCATTTGCTAGTGAAATTCTATGGCATTTA TGTGGAGTCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG02717.hp1 others(4): Show HG01361.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 others(4): Show a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0306 a0002c0004t0001g0290	7	396	0.0177	-110	c.-47 others(11): Show c.-4787_-4678del	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		4656		chr20	TogoVar
UBE3A_chr15_25328728_25444024	25430177	TATATATA others(103): Show TATATATATAATACATATATATAAGATTATATATATATTATATATATAAT ACATATATATAAGATTATATATATATTATATATATAATACATATATAAGA TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(81): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0056	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(81): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0290 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0054 a0001c0001t0003g0161 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0256 a0001c0001t0022g0193 a0001c0001t0025g0003 a0001c0001t0026g0249 a0001c0001t0030g0221 a0001c0001t0034g0233 a0001c0001t0035g0009 a0001c0001t0056g0296	84	296	0.2838	-110	c.-16 others(19): Show c.-165+8202_-165+8311del	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar

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