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
RPTOR_chr17_80539838_80971368	80681709	ATGAGGTG others(97): Show ATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTACACCT TCATGAGGTGTACGTCTCTTACACCTTCATGAGGTGTACGTCTCTTACAC CTTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02970.hp2 others(1): Show HG02109.hp2 HG02717.hp1 HG02970.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0009 others(1): Show a0001c0003 a0001c0008 a0001c0009 a0001c0065	a0001c0003t0004 a0001c0008t0027 a0001c0009t0012 others(1): Show a0001c0003t0004 a0001c0008t0027 a0001c0009t0012 a0001c0065t0006	a0001c0003t0004g0119 a0001c0008t0027g0129 a0001c0009t0012g0106 others(1): Show a0001c0003t0004g0119 a0001c0008t0027g0129 a0001c0009t0012g0106 a0001c0065t0006g0104	4	194	0.0206	-104	c.349 others(19): Show c.349-26125_349-26022del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241875078	AAAACCAG others(97): Show AAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCAGGGATGAGGGTCCAG GAGAAACCAGAATCCAGGCCTCGGGGGCCCAACTGCAGGGATGAGGGTCC AGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(23): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG01123.hp1 HG02083.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp1 NA18522.hp1 NA19240.hp2	a0001 a0003 a0011 others(2): Show a0001 a0003 a0011 a0012 a0019	a0001c0001 a0003c0003 a0011c0012 others(2): Show a0001c0001 a0003c0003 a0011c0012 a0012c0014 a0019c0017	a0001c0001t0002 a0001c0001t0015 a0003c0003t0002 others(6): Show a0001c0001t0002 a0001c0001t0015 a0003c0003t0002 a0003c0003t0003 a0003c0003t0023 a0003c0003t0039 a0011c0012t0012 a0012c0014t0011 a0019c0017t0003	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0015g0001 others(10): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0015g0001 a0003c0003t0002g0010 a0003c0003t0003g0001 a0003c0003t0003g0018 a0003c0003t0003g0032 a0003c0003t0003g0040 a0003c0003t0023g0042 a0003c0003t0039g0001 a0011c0012t0012g0013 a0012c0014t0011g0015 a0019c0017t0003g0018	26	226	0.1150	-104	c.18 others(11): Show c.1805_*1908del	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1256		chr2	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(97): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA18522.hp2 NA18982.hp2 others(1): Show HG02572.hp1 NA18522.hp2 NA18982.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0212 a0001c0004t0004g0051	4	197	0.0203	-104	c.-47 others(11): Show c.-4727_-4624del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C2_chr17_132569_144067	136289	CCCCTAAC others(97): Show CCCCTAACCAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAAC CCTAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAAC CCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	397	0.0050	-104	c.-13 others(11): Show c.-1301_-1198del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1279		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159626126	ATAGATAG others(97): Show ATAGATAGATAGATATATCTAGATATATATATATATCTAGATATATCTAT CTATCTAGATAGATAGATAGATAGATAGATAGATATATCTAGATATATAT ATATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	92	0.0109	-104	c.64- others(19): Show c.64-138310_64-138207del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626140	ATATCTAG others(97): Show ATATCTAGATATATATATATATCTAGATATATCTATCTATCTAGATAGAT AGATAGATAGATAGATAGATATATCTAGATATATATATATCTAGATATAT CTATC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02723.hp2 others(1): Show HG02145.hp1 HG02622.hp2 HG02723.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0002t0003g0083	4	93	0.0430	-104	c.64- others(19): Show c.64-138296_64-138193del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCPEP1_chr17_56973131_57011768	57006793	GGTTGTAC others(97): Show GGTTGTACTCTAGTTTATTTACAAAATTCCCAGTTGTTTCCGACAAGTAT AATAATTTCTAGTTTGTTGCTATTATACATAGTGCTCTGTTGATTCACCC TGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	378	0.0026	-104	c.55 others(9): Show c.559_*662del	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		26		chr17	TogoVar
SH3YL1_chr2_213144_269032	236029	GGCAGCAT others(97): Show GGCAGCATGGGTCAGGGGAGGCAGCAGCATGGGCCAGGGGAGGCAGCATG GGCCAGGGGAGGCAGCATGGGTCAGGGGAGGCAGCAGCATGGGCCAGGGG AGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	352	0.0028	-104	c.292 others(17): Show c.292-1861_292-1758del	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHC2_chr19_411589_466033	442808	TGAGTGGA others(97): Show TGAGTGGATGGGTGGATGGGTGGGTGGATGGGTGGACGGGTGGACGGATG GATGGGTGGGTGGATAGATGAGTGGATGGGTGGGTGGATGAATGGATGGA TGGAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02559.hp1 HG02572.hp1 others(23): Show HG00423.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18971.hp1 NA19030.hp2 NA19043.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0005c0009 a0009c0021 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0002 a0001c0002t0004 a0001c0005t0015 a0001c0007t0003 a0001c0007t0006 a0001c0017t0005 a0005c0009t0005 a0005c0009t0014 a0009c0021t0002 a0011c0022t0002	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0035 others(23): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0101 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0172 a0001c0001t0004g0029 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0007g0038 a0001c0001t0016g0069 a0001c0002t0002g0045 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0005t0015g0007 a0001c0007t0003g0039 a0001c0007t0006g0041 a0001c0017t0005g0055 a0005c0009t0005g0047 a0005c0009t0014g0036 a0009c0021t0002g0028 a0011c0022t0002g0185	26	210	0.1238	-104	c.469 others(17): Show c.469-1980_469-1877del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHOX_chrX_625791_656584	628578	CCTGTCTG others(97): Show CCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTC TCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG02451.hp2 others(2): Show HG00741.hp2 HG02280.hp2 HG02451.hp2 HG02897.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0155 a0001c0001t0165 others(2): Show a0001c0001t0009 a0001c0001t0155 a0001c0001t0165 a0001c0001t0167 a0001c0002t0169	a0001c0001t0009g0008 a0001c0001t0155g0008 a0001c0001t0165g0125 others(2): Show a0001c0001t0009g0008 a0001c0001t0155g0008 a0001c0001t0165g0125 a0001c0001t0167g0123 a0001c0002t0169g0124	5	218	0.0229	-104	c.-23 others(11): Show c.-2319_-2216del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2212		chrX	TogoVar
SHOX_chrX_625791_656584	628743	CTCTCTAT others(97): Show CTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATCTCTCCCTCTCT CTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCC CTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(54): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01123.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp1 HG03486.hp2 HG03540.hp2 HG03831.hp1 HG04184.hp1 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18975.hp2 NA18988.hp1 NA18991.hp1 NA18998.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19090.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0066 a0001c0001t0077 a0001c0001t0079 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0091 a0001c0001t0100 a0001c0001t0108 a0001c0001t0118 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0128 a0001c0001t0131 a0001c0001t0135 a0001c0001t0136 a0001c0001t0140 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0157 a0001c0001t0158 a0001c0001t0161 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0176	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0002g0092 others(53): Show a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0002g0092 a0001c0001t0003g0095 a0001c0001t0003g0154 a0001c0001t0003g0187 a0001c0001t0004g0002 a0001c0001t0004g0190 a0001c0001t0006g0003 a0001c0001t0008g0116 a0001c0001t0010g0112 a0001c0001t0010g0179 a0001c0001t0011g0105 a0001c0001t0011g0153 a0001c0001t0013g0002 a0001c0001t0016g0115 a0001c0001t0017g0197 a0001c0001t0021g0198 a0001c0001t0024g0068 a0001c0001t0031g0093 a0001c0001t0032g0091 a0001c0001t0037g0167 a0001c0001t0044g0160 a0001c0001t0045g0097 a0001c0001t0048g0110 a0001c0001t0049g0100 a0001c0001t0050g0111 a0001c0001t0056g0088 a0001c0001t0066g0122 a0001c0001t0077g0178 a0001c0001t0079g0103 a0001c0001t0083g0150 a0001c0001t0084g0196 a0001c0001t0086g0106 a0001c0001t0091g0129 a0001c0001t0100g0096 a0001c0001t0108g0003 a0001c0001t0118g0151 a0001c0001t0123g0183 a0001c0001t0125g0102 a0001c0001t0126g0162 a0001c0001t0128g0140 a0001c0001t0131g0188 a0001c0001t0135g0109 a0001c0001t0136g0107 a0001c0001t0140g0139 a0001c0001t0151g0132 a0001c0001t0152g0065 a0001c0001t0153g0156 a0001c0001t0157g0168 a0001c0001t0158g0184 a0001c0001t0161g0199 a0001c0001t0172g0201 a0001c0001t0173g0074 a0001c0001t0174g0128 a0001c0001t0176g0143	57	188	0.3032	-104	c.-21 others(11): Show c.-2154_-2051del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2047		chrX	TogoVar
SIGIRR_chr11_400716_419999	402587	CCCGACCC others(97): Show CCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCGCT CACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCC GCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	237	0.0042	-104	c.32 others(11): Show c.3205_*3308del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3128		chr11	TogoVar
SLC2A13_chr12_39750025_40111081	39895715	TATGTATA others(97): Show TATGTATATGCGTGTATACGTACACACATGTATATGCGTGTATACGTACA CACATGTATATGCGTGTATACGTACACACATGTATATGCGTGTATACGTA CACAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	211	0.0047	-104	c.103 others(21): Show c.1035-23858_1035-23755del	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC39A14_chr8_22362278_22427736	22396435	AGAGAGAG others(97): Show AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG GGGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01123.hp2 others(1): Show HG00140.hp2 HG00408.hp1 HG01123.hp2 HG02056.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0001 a0002c0006 a0003c0001	a0002c0006t0015 a0003c0001t0001 a0002c0006t0015 a0003c0001t0001	a0002c0006t0015g0204 a0003c0001t0001g0001 a0003c0001t0001g0198 a0002c0006t0015g0204 a0003c0001t0001g0001 a0003c0001t0001g0198	4	320	0.0125	-104	c.-15 others(17): Show c.-15-8247_-15-8144del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SMOC2_chr6_168436184_168672992	168560493	GGCCCTGA others(97): Show GGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18951.hp2 HG01346.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0146 a0001c0002t0002g0011 a0001c0001t0001g0146 a0001c0002t0002g0011	2	172	0.0116	-104	c.637 others(19): Show c.637+11300_637+11403del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp1 HG04204.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0177 a0001c0001t0001g0108 a0001c0001t0001g0177	2	159	0.0126	-104	c.637 others(19): Show c.637+11421_637+11524del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	124	0.0081	-104	c.637 others(19): Show c.637+11445_637+11548del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560884	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	128	0.0078	-104	c.637 others(19): Show c.637+11705_637+11808del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560910	ACCCTGAG others(97): Show ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	103	0.0097	-104	c.637 others(19): Show c.637+11733_637+11836del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561170	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	176	0.0057	-104	c.637 others(19): Show c.637+11993_637+12096del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561196	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	114	0.0088	-104	c.637 others(19): Show c.637+12044_637+12147del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561253	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	148	0.0068	-104	c.637 others(19): Show c.637+12069_637+12172del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561378	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18990.hp1 HG04199.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0073 a0001c0002t0016g0046 a0001c0001t0001g0073 a0001c0002t0016g0046	2	174	0.0115	-104	c.637 others(19): Show c.637+12201_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561404	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCG	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0086 a0003c0009t0003g0086	1	109	0.0092	-104	c.637 others(19): Show c.637+12201_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561565	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	115	0.0087	-104	c.637 others(19): Show c.637+12381_637+12484del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561690	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02293.hp1 NA18941.hp2 others(3): Show HG02129.hp1 HG02293.hp1 NA18941.hp2 NA18973.hp2 NA19000.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0002t0002g0055 a0001c0003t0001g0155	6	170	0.0353	-104	c.637 others(19): Show c.637+12513_637+12616del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561716	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18939.hp1 NA18943.hp2 others(4): Show HG01978.hp1 NA18939.hp1 NA18943.hp2 NA18963.hp2 NA18971.hp2 NA19012.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0003g0090 a0001c0001t0015g0163 a0001c0002t0002g0013 a0001c0002t0002g0014	7	134	0.0522	-104	c.637 others(19): Show c.637+12564_637+12667del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561767	CATTCTTG others(97): Show CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	127	0.0079	-104	c.637 others(19): Show c.637+12565_637+12668del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561898	GCCCTGAG others(97): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	171	0.0058	-104	c.637 others(19): Show c.637+12745_637+12848del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246484248	AAAAACAC others(97): Show AAAAACACATCACTTCAACCAAAATACCTAAACCACTGCACTAGTTACAC CTAAAAACACATCACTTCAACCAAAATACCTAAACCACTGCACTAGTTAC ACCTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG01952.hp1 others(4): Show HG00738.hp2 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0002g0042 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0002t0001g0086	7	121	0.0579	-104	c.164 others(19): Show c.164+22702_164+22805del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG1_chr8_49906407_50801692	50734752	GATATCTA others(97): Show GATATCTATATATATGGACATATATATAGATATCTATATATATGGACATA TATATAGATATCTATATATATGGACATATATATATCTATATATATGGACA TATAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0056 a0001c0001t0033g0056	1	81	0.0123	-104	c.128 others(21): Show c.1285-17221_1285-17118del	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1106837	CCTTGGTA others(97): Show CCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 HG01109.hp2 HG02486.hp1 HG02615.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0007 a0002c0005 a0003c0007	a0002c0005t0001 a0003c0007t0001 a0002c0005t0001 a0003c0007t0001	a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104 a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104	3	146	0.0205	-104	c.325 others(17): Show c.325+8436_325+8539del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106846	GAGTGGTC others(97): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03654.hp1 NA19000.hp2 HG02280.hp2 HG03654.hp1 NA19000.hp2	a0004 a0010 a0021 a0004 a0010 a0021	a0004c0004 a0010c0013 a0021c0027 a0004c0004 a0010c0013 a0021c0027	a0004c0004t0001 a0010c0013t0001 a0021c0027t0001 a0004c0004t0001 a0010c0013t0001 a0021c0027t0001	a0004c0004t0001g0065 a0010c0013t0001g0140 a0021c0027t0001g0136 a0004c0004t0001g0065 a0010c0013t0001g0140 a0021c0027t0001g0136	3	153	0.0196	-104	c.325 others(17): Show c.325+8442_325+8545del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106898	TAGTGGAC others(97): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02486.hp2 others(2): Show HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02922.hp1 HG03540.hp1	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0007 a0003c0026 a0004c0004 others(1): Show a0003c0007 a0003c0026 a0004c0004 a0008c0031	a0003c0007t0001 a0003c0026t0001 a0004c0004t0001 others(1): Show a0003c0007t0001 a0003c0026t0001 a0004c0004t0001 a0008c0031t0001	a0003c0007t0001g0116 a0003c0026t0001g0097 a0004c0004t0001g0150 others(2): Show a0003c0007t0001g0116 a0003c0026t0001g0097 a0004c0004t0001g0150 a0004c0004t0001g0151 a0008c0031t0001g0117	5	137	0.0365	-104	c.325 others(126): Show c.325+8488_325+8592delTAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAAGinsC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1107056	GTGGACAC others(97): Show GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGAT AATAA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0136 a0021c0027t0001g0136	1	180	0.0056	-104	c.325 others(17): Show c.325+8744_325+8847del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107314	GAGTGGAC others(97): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0012 a0004c0004 a0009c0012	a0004c0004t0001 a0009c0012t0001 a0004c0004t0001 a0009c0012t0001	a0004c0004t0001g0124 a0009c0012t0001g0146 a0004c0004t0001g0124 a0009c0012t0001g0146	2	175	0.0114	-104	c.325 others(17): Show c.325+8947_325+9050del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107409	CCTTGGTA others(97): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp2 HG02738.hp2 others(7): Show HG01346.hp1 HG01975.hp2 HG02738.hp2 HG03490.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18969.hp1 NA19000.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0019	a0001c0002 a0002c0005 a0003c0007 others(3): Show a0001c0002 a0002c0005 a0003c0007 a0004c0014 a0006c0010 a0019c0030	a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 others(3): Show a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0004c0014t0001 a0006c0010t0001 a0019c0030t0001	a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0031 others(7): Show a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0031 a0001c0002t0001g0145 a0002c0005t0001g0022 a0002c0005t0001g0107 a0003c0007t0001g0060 a0004c0014t0001g0054 a0006c0010t0001g0010 a0019c0030t0001g0160	10	143	0.0699	-104	c.325 others(17): Show c.325+9051_325+9154del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107476	TCACGTGC others(97): Show TCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATA GTGGA	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG02132.hp2 others(2): Show HG01106.hp2 HG01496.hp1 HG02132.hp2 HG03017.hp1 HG03831.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0001 a0006c0009t0001 a0002c0003t0001 a0006c0009t0001	a0002c0003t0001g0029 a0002c0003t0001g0094 a0002c0003t0001g0148 others(2): Show a0002c0003t0001g0029 a0002c0003t0001g0094 a0002c0003t0001g0148 a0002c0003t0001g0167 a0006c0009t0001g0162	5	161	0.0311	-104	c.325 others(17): Show c.325+9066_325+9169del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1107522	TAGTGGAC others(97): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp2 HG03239.hp2 others(1): Show HG01257.hp1 HG02572.hp2 HG03239.hp2 HG03927.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0010c0029	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0010c0029t0001	a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 others(1): Show a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 a0010c0029t0001g0152	4	156	0.0256	-104	c.325 others(126): Show c.325+9112_325+9216delTAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAAGinsC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1107522	TAGTGGAC others(97): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19000.hp2 HG00673.hp1 NA19000.hp2	a0001 a0021 a0001 a0021	a0001c0002 a0021c0027 a0001c0002 a0021c0027	a0001c0002t0001 a0021c0027t0001 a0001c0002t0001 a0021c0027t0001	a0001c0002t0001g0123 a0021c0027t0001g0136 a0001c0002t0001g0123 a0021c0027t0001g0136	2	154	0.0130	-104	c.325 others(17): Show c.325+9259_325+9362del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107669	GCTTGGTA others(97): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01074.hp2 others(4): Show HG00323.hp2 HG00735.hp2 HG01074.hp2 HG01257.hp2 HG02280.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0002c0003 a0003c0008 others(2): Show a0001c0001 a0002c0003 a0003c0008 a0007c0016 a0011c0020	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0007c0016t0001 a0011c0020t0001	a0001c0001t0001g0056 a0002c0003t0001g0098 a0002c0003t0001g0183 others(4): Show a0001c0001t0001g0056 a0002c0003t0001g0098 a0002c0003t0001g0183 a0003c0008t0001g0059 a0007c0016t0001g0032 a0011c0020t0001g0110 a0011c0020t0001g0115	7	150	0.0467	-104	c.325 others(17): Show c.325+9363_325+9466del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107773	CCTTGGTA others(97): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0003 a0008 a0003 a0008	a0003c0007 a0008c0031 a0003c0007 a0008c0031	a0003c0007t0001 a0008c0031t0001 a0003c0007t0001 a0008c0031t0001	a0003c0007t0001g0116 a0008c0031t0001g0117 a0003c0007t0001g0116 a0008c0031t0001g0117	2	148	0.0135	-104	c.325 others(17): Show c.325+9467_325+9570del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107877	GCTTGGTA others(97): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG02132.hp2 others(4): Show HG01106.hp2 HG01496.hp1 HG02132.hp2 HG02258.hp1 HG03017.hp1 HG03831.hp2 NA19000.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0021	a0002c0003 a0004c0004 a0006c0009 others(1): Show a0002c0003 a0004c0004 a0006c0009 a0021c0027	a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 others(1): Show a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 a0021c0027t0001	a0002c0003t0001g0029 a0002c0003t0001g0094 a0002c0003t0001g0148 others(4): Show a0002c0003t0001g0029 a0002c0003t0001g0094 a0002c0003t0001g0148 a0002c0003t0001g0167 a0004c0004t0001g0087 a0006c0009t0001g0162 a0021c0027t0001g0136	7	118	0.0593	-104	c.325 others(17): Show c.325+9675_325+9778del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108189	GCTTGGTA others(97): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG03471.hp2 HG02145.hp2 HG02451.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0001c0002t0001 a0001c0002t0002 a0003c0007t0001	a0001c0002t0001g0118 a0001c0002t0002g0076 a0003c0007t0001g0068 a0001c0002t0001g0118 a0001c0002t0002g0076 a0003c0007t0001g0068	3	165	0.0182	-104	c.325 others(17): Show c.325+9883_325+9986del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308816	ATATATAT others(97): Show ATATATATATGTGTGTGTGTGTATATATATATATATACACATACATACAT ACATACATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAGGC TGCTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03579.hp1 others(2): Show HG01891.hp1 HG02976.hp2 HG03579.hp1 NA19043.hp2 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0005 a0002c0001 a0005c0005	a0002c0001t0023 a0002c0001t0068 a0005c0005t0004 others(1): Show a0002c0001t0023 a0002c0001t0068 a0005c0005t0004 a0005c0005t0035	a0002c0001t0023g0013 a0002c0001t0023g0014 a0002c0001t0068g0004 others(2): Show a0002c0001t0023g0013 a0002c0001t0023g0014 a0002c0001t0068g0004 a0005c0005t0004g0032 a0005c0005t0035g0161	5	261	0.0192	-104	c.742 others(19): Show c.742+15097_742+15200del	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
TCF3_chr19_1604292_1657615	1628020	GTGAGGCG others(97): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA GGGGA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0323 a0001c0003t0005g0323	1	332	0.0030	-104	c.299 others(15): Show c.299-698_299-595del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628494	CAGGGGGT others(97): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGC TCACA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0101 a0001c0004t0030g0101	1	246	0.0041	-104	c.299 others(17): Show c.299-1172_299-1069del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272539	CCACATCA others(97): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCA	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0318 a0001c0003t0001g0318	1	335	0.0030	-104	c.228 others(17): Show c.2287-363_2287-260del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFB1M_chr6_155251134_155319484	155305468	AATATATA others(97): Show AATATATATTAAATTATATATATAAATATATATTAAATTATATATTTATA TATATATTAAATTATATATTTATATATATAAATATATATTAAATTATATA TTTAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	337	0.0030	-104	c.285 others(17): Show c.285+5616_285+5719del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TLL1_chr4_165868237_166109457	165957196	GTTGTTGT others(97): Show GTTGTTGTTCTTACATTAGACAAAATGACTTTAAACCAACAATAGTCAGT AAGGACAAAGAAGGGCATTACATAGTGGTAAAGGATTCAATTCACAAGAA GACTT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0209 a0001c0001t0021g0209	1	248	0.0040	-104	c.170 others(19): Show c.170-32183_170-32080del	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar

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