Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNX18_chr5_54512759_54551586	54512850	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0185 a0001c0002t0002g0158 a0001c0002t0001g0185 a0001c0002t0002g0158	2	390	0.0051	-32	c.-51 others(43): Show c.-5102_-5071delCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4908		chr5	TogoVar
SNX27_chr1_151607050_151704080	151641931	TGAGATAT others(25): Show TGAGATATATATATCAGCTATAGATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0351 a0001c0001t0068g0351	1	366	0.0027	-32	c.543 others(49): Show c.543+2815_543+2846delGATATATATATCAGCTATAGATATATAT GAGA	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151641948	CTATAGAT others(25): Show CTATAGATATATATGAGATATATATATATCAGA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18948.hp1 NA18986.hp2 others(1): Show HG02015.hp2 NA18948.hp1 NA18986.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0089 a0001c0001t0111 others(1): Show a0001c0001t0059 a0001c0001t0089 a0001c0001t0111 a0001c0001t0112	a0001c0001t0059g0206 a0001c0001t0089g0300 a0001c0001t0111g0222 others(1): Show a0001c0001t0059g0206 a0001c0001t0089g0300 a0001c0001t0111g0222 a0001c0001t0112g0208	4	366	0.0109	-32	c.543 others(49): Show c.543+2856_543+2887delATCAGATATAGATATATATGAGATATAT ATAT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18941.hp2 NA18951.hp2 others(1): Show HG03927.hp1 NA18941.hp2 NA18951.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0060 a0001c0001t0011 a0001c0001t0060	a0001c0001t0011g0243 a0001c0001t0011g0262 a0001c0001t0060g0260 others(1): Show a0001c0001t0011g0243 a0001c0001t0011g0262 a0001c0001t0060g0260 a0001c0001t0060g0261	4	366	0.0109	-32	c.115 others(51): Show c.1150-7064_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12575846	TTGTTTTT others(25): Show TTGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0039 a0001c0001t0063g0039	1	176	0.0057	-32	c.72 others(43): Show c.7218_*7249delTGTTTTTTTTGTTTTTGTTTTTATTTTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1560		chr16	TogoVar
SOBP_chr6_107485117_107666306	107488352	CGCAAAGC others(25): Show CGCAAAGCCTGGCTCGCTCTGGCCTCCTGGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	296	0.0034	-32	c.-22 others(43): Show c.-2264_-2233delGCAAAGCCTGGCTCGCTCTGGCCTCCTGGCTT	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding		1764		chr6	TogoVar
SOBP_chr6_107485117_107666306	107656339	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGTA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	296	0.0034	-32	c.4- others(47): Show c.4-1866_*4-1835delAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT AA	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SON_chr21_33538038_33582481	33577603	CTACACAC others(25): Show CTACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	364	0.0028	-32	c.11 others(43): Show c.1180_*1211delTACACACACACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		123		chr21	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02129.hp1 others(12): Show HG00639.hp2 HG00642.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02738.hp2 HG03579.hp1 NA18953.hp1 NA18954.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0013 a0025	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0005c0008 a0008c0013 a0013c0020 a0025c0048	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0005c0008t0001 a0008c0013t0001 a0013c0020t0001 a0025c0048t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0002t0001g0002 a0001c0002t0001g0152 a0002c0003t0001g0004 a0002c0003t0001g0187 a0005c0008t0001g0164 a0008c0013t0001g0079 a0013c0020t0001g0178 a0025c0048t0001g0030	15	364	0.0412	-32	c.11 others(43): Show c.1181_*1212delACACACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORCS1_chr10_106568663_107169706	106736587	CAAGATAA others(25): Show CAAGATAACCCTGGTTAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(75): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18957.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0002c0006 a0003c0023 a0003c0024 a0003c0025 a0004c0008 a0004c0015 a0005c0010 a0006c0029 a0008c0016 a0009c0017 a0011c0020 a0013c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0022 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0007t0016 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0002 a0001c0028t0002 a0002c0006t0001 a0003c0023t0006 a0003c0024t0001 a0003c0025t0001 a0004c0008t0005 a0004c0015t0005 a0005c0010t0001 a0006c0029t0005 a0008c0016t0002 a0009c0017t0003 a0011c0020t0001 a0013c0026t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(75): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0003g0083 a0001c0001t0004g0072 a0001c0001t0004g0080 a0001c0001t0004g0101 a0001c0001t0009g0121 a0001c0001t0017g0118 a0001c0001t0019g0104 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0095 a0001c0002t0001g0122 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0002t0003g0058 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0112 a0001c0002t0004g0043 a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0002t0006g0057 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0048 a0001c0003t0001g0070 a0001c0003t0001g0090 a0001c0003t0001g0120 a0001c0003t0002g0005 a0001c0003t0002g0029 a0001c0003t0002g0047 a0001c0003t0022g0129 a0001c0004t0002g0093 a0001c0004t0004g0107 a0001c0004t0007g0002 a0001c0004t0013g0013 a0001c0005t0001g0052 a0001c0005t0001g0062 a0001c0005t0001g0109 a0001c0005t0002g0022 a0001c0005t0002g0030 a0001c0007t0016g0078 a0001c0014t0001g0068 a0001c0018t0001g0038 a0001c0019t0001g0016 a0001c0027t0002g0123 a0001c0028t0002g0124 a0002c0006t0001g0014 a0002c0006t0001g0017 a0002c0006t0001g0050 a0002c0006t0001g0105 a0003c0023t0006g0091 a0003c0024t0001g0040 a0003c0025t0001g0044 a0004c0008t0005g0018 a0004c0015t0005g0007 a0005c0010t0001g0125 a0005c0010t0001g0126 a0006c0029t0005g0127 a0008c0016t0002g0054 a0009c0017t0003g0020 a0011c0020t0001g0098 a0013c0026t0001g0064	78	130	0.6000	-32	c.960 others(49): Show c.960-6505_960-6474delTTTTTTTTTTTTTTTTTAACCAGGGTTA TCTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7374108	ATTCTTTC others(25): Show ATTCTTTCTTTCTTTCTTTCCCTCTTTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01884.hp1 others(7): Show HG00099.hp1 HG00639.hp1 HG01884.hp1 HG01952.hp1 HG02148.hp1 HG02559.hp1 HG02976.hp1 HG03209.hp1 HG03688.hp2 NA19030.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0015	a0001c0001 a0001c0002 a0001c0036 others(5): Show a0001c0001 a0001c0002 a0001c0036 a0001c0053 a0002c0004 a0004c0043 a0005c0045 a0015c0023	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0002t0058 a0001c0036t0044 a0001c0053t0001 a0002c0004t0024 a0004c0043t0037 a0005c0045t0001 a0015c0023t0008	a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0020g0052 others(7): Show a0001c0001t0003g0053 a0001c0001t0004g0097 a0001c0001t0020g0052 a0001c0002t0058g0019 a0001c0036t0044g0022 a0001c0053t0001g0044 a0002c0004t0024g0114 a0004c0043t0037g0058 a0005c0045t0001g0148 a0015c0023t0008g0122	10	168	0.0595	-32	c.481 others(51): Show c.481-22160_481-22129delCCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7743802	GCGCGCAC others(25): Show GCGCGCACACACACACACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA19043.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0052 a0001c0009t0051 a0001c0003t0052 a0001c0009t0051	a0001c0003t0052g0147 a0001c0009t0051g0042 a0001c0003t0052g0147 a0001c0009t0051g0042	2	168	0.0119	-32	c.35 others(43): Show c.3539_*3570delCGCGCACACACACACACACACACACACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding		976		chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0131 a0002c0013t0002g0131	1	134	0.0075	-32	c.627 others(51): Show c.627+42848_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105091317	CTCCTTCC others(25): Show CTCCTTCCTTCCTTGCTTCCTTCCTTCGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG02738.hp2 others(6): Show HG00609.hp1 HG00642.hp1 HG02738.hp2 HG03098.hp1 HG03927.hp2 NA18943.hp1 NA18943.hp2 NA18995.hp2 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0009c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0006t0001 a0001c0006t0004 a0001c0015t0002 a0009c0019t0002	a0001c0001t0001g0037 a0001c0001t0004g0107 a0001c0001t0004g0112 others(6): Show a0001c0001t0001g0037 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0002t0001g0043 a0001c0006t0001g0077 a0001c0006t0004g0047 a0001c0006t0004g0058 a0001c0015t0002g0130 a0009c0019t0002g0109	9	134	0.0672	-32	c.109 others(51): Show c.1093+1491_1093+1522delTGCTTCCTTCCTTCGTTCCTTCCTTC CTTCCT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02559.hp1 HG03041.hp2 others(1): Show HG01943.hp1 HG02559.hp1 HG03041.hp2 NA18941.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0002t0012 a0003c0003t0005 others(1): Show a0001c0001t0001 a0002c0002t0012 a0003c0003t0005 a0004c0006t0012	a0001c0001t0001g0092 a0002c0002t0012g0268 a0003c0003t0005g0095 others(1): Show a0001c0001t0001g0092 a0002c0002t0012g0268 a0003c0003t0005g0095 a0004c0006t0012g0267	4	308	0.0130	-32	c.67- others(47): Show c.67-2244_67-2213delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02040.hp2 HG02055.hp2 others(6): Show HG01261.hp1 HG02040.hp2 HG02055.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0010 a0001c0001 a0001c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0006c0010t0005	a0001c0001t0001g0091 a0001c0001t0002g0070 a0001c0003t0005g0015 others(6): Show a0001c0001t0001g0091 a0001c0001t0002g0070 a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 a0006c0010t0005g0018	9	240	0.0375	-32	c.307 others(49): Show c.307-9142_307-9111delATATATATATATATATATATATATATAT ATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01123.hp1 others(4): Show HG00140.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000	7	412	0.0170	-32	c.21 others(43): Show c.2120_*2151delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	212	0.0047	-32	c.810 others(49): Show c.810+8534_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03195.hp2 HG02630.hp1 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0002t0001g0060 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0002t0001g0060	3	218	0.0138	-32	c.110 others(51): Show c.1102-7627_1102-7596delTATATATATATATATATATATATATA TATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(25): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02922.hp1 HG03239.hp2 others(6): Show HG01993.hp1 HG02922.hp1 HG03239.hp2 NA18941.hp1 NA18947.hp2 NA18971.hp1 NA18992.hp2 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023	a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0002g0099 others(6): Show a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0131 a0001c0001t0002g0209 a0001c0001t0005g0091 a0001c0001t0008g0020 a0001c0001t0015g0045 a0001c0001t0023g0093	9	218	0.0413	-32	c.778 others(51): Show c.778-20371_778-20340delCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349703	AGGAAGGA others(25): Show AGGAAGGAAGGAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0130 a0001c0001t0018g0130	1	218	0.0046	-32	c.-5+ others(47): Show c.-5+6359_-5+6390delCTTCCTTCCTTCCTTCCTTCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	991382	TTCAGATG others(25): Show TTCAGATGTGGAGGGGACTTGGGCAGGTGGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	434	0.0023	-32	c.59 others(43): Show c.5997_*6028delTCAGATGTGGAGGGGACTTGGGCAGGTGGTTC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4404		chr16	TogoVar
SOX8_chr16_976770_991979	991388	TGTGGAGG others(25): Show TGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02970.hp2 NA18966.hp2 HG00099.hp2 HG02970.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0008 a0001c0001t0001 a0001c0002t0005 a0001c0003t0008	a0001c0001t0001g0001 a0001c0002t0005g0003 a0001c0003t0008g0006 a0001c0001t0001g0001 a0001c0002t0005g0003 a0001c0003t0008g0006	3	434	0.0069	-32	c.60 others(43): Show c.6003_*6034delGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4410		chr16	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0050 a0003c0004t0004g0050	1	290	0.0035	-32	c.205 others(49): Show c.2053-624_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 NA18906.hp1 HG02280.hp2 HG03486.hp1 NA18906.hp1	a0005 a0016 a0005 a0016	a0005c0010 a0016c0032 a0016c0033 a0005c0010 a0016c0032 a0016c0033	a0005c0010t0014 a0016c0032t0032 a0016c0033t0032 a0005c0010t0014 a0016c0032t0032 a0016c0033t0032	a0005c0010t0014g0364 a0016c0032t0032g0371 a0016c0033t0032g0038 a0005c0010t0014g0364 a0016c0032t0032g0371 a0016c0033t0032g0038	3	428	0.0070	-32	c.898 others(49): Show c.898+1364_898+1395delTATATATATATATATATATATATATATA TATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230242241	ATAAAGAG others(25): Show ATAAAGAGTTAAGAAAAAAAGGGTGTAAAACAC	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	370	0.0027	-32	c.490 others(47): Show c.490+756_490+787delAAAGAGTTAAGAAAAAAAGGGTGTAAAACA CT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53380494	CCGCCCGC others(25): Show CCGCCCGCCCCGGGGGAGGGGGCAGCGTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	326	0.0031	-32	c.7+2 others(43): Show c.7+207_7+238delGGGGGAGGGGGCAGCGTGGCCTCGCCCGCCCC	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPAG16_chr2_213279464_214415501	213643348	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG03225.hp1 HG02886.hp1 HG03130.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0072 a0002c0002t0001g0075 a0002c0002t0001g0077 a0001c0001t0002g0072 a0002c0002t0001g0075 a0002c0002t0001g0077	3	86	0.0349	-32	c.107 others(55): Show c.1070+153290_1070+153321delATATATATATATATATATATAT ATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214125999	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01361.hp2 others(9): Show HG00673.hp1 HG00735.hp1 HG01361.hp2 HG02015.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG03130.hp1 HG03239.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0002g0052 a0003c0003t0001g0028 a0003c0003t0001g0046 a0006c0006t0001g0082	12	86	0.1395	-32	c.159 others(53): Show c.1593+17769_1593+17800delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0038 a0004c0006t0001g0038	1	366	0.0027	-32	c.153 others(51): Show c.1535+1101_1535+1132delATATATATATATATATATATATATAT ATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	320	0.0031	-32	c.-57 others(41): Show c.-579_-548delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51053846	AAAAAAAA others(25): Show AAAAAAAAAGTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0192 a0002c0003t0011g0192	1	292	0.0034	-32	c.495 others(49): Show c.495+2534_495+2565delATATATATATATATATATATATACTTTT TTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053848	AAAAAAAG others(25): Show AAAAAAAGTATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0193 a0002c0003t0011g0193	1	292	0.0034	-32	c.495 others(49): Show c.495+2532_495+2563delATATATATATATATATATATATATACTT TTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51076997	GCTATCTA others(25): Show GCTATCTAGCTAGCTAGCTAGCTATCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	292	0.0034	-32	c.424 others(49): Show c.424+2555_424+2586delATAGCTAGATAGCTAGCTAGCTAGCTAG ATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077021	TCTAGCTA others(25): Show TCTAGCTATCTATCTAGCTATCTAGCTATCTAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	292	0.0034	-32	c.424 others(49): Show c.424+2531_424+2562delCTAGATAGCTAGATAGCTAGATAGATAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51095992	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	292	0.0034	-32	c.304 others(51): Show c.304-16320_304-16289delATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24269358	ATGTATGT others(25): Show ATGTATGTATGTATGTGTGTATGTATGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0208 a0001c0002t0081g0208	1	356	0.0028	-32	c.216 others(53): Show c.2165-14761_2165-14730delGTGTATGTATGTATGTGTGTATGT ATGTATGT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173028001	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0097 a0003c0003t0001g0097	1	200	0.0050	-32	c.759 others(49): Show c.759-8458_759-8427delAAGGAAGGAAAGAAGGAAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173087998	TTTTCTTT others(25): Show TTTTCTTTCCGTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	200	0.0050	-32	c.612 others(51): Show c.612+29090_612+29121delGAAAGAAAGAAAGAAAGAAAGACGGA AAGAAA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA2L_chr16_89691357_89706705	89703546	CTCCATGC others(25): Show CTCCATGCTGTTCTCGTGATAGTGAATTCCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-32	c.-19 others(43): Show c.-1952_-1921delCGTGGAATTCACTATCACGAGAACAGCATGGA	SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding		1842		chr16	TogoVar
SPATA2_chr20_49898391_49920529	49903898	GATAGATA others(25): Show GATAGATATATATATATATATATATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0052 a0001c0001t0044g0052	2	426	0.0047	-32	c.16 others(43): Show c.1689_*1720delATATATATATATATATATATATATATATCTAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1689		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49916846	AAAAAGTC others(25): Show AAAAAGTCCCCTCCAGCTCTGTGGGTCTATGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	426	0.0024	-32	c.-16 others(43): Show c.-1601_-1570delGTCATAGACCCACAGAGCTGGAGGGGACTTTT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding		1318		chr20	TogoVar
SPATA31C1_chr9_87912962_87928657	87917467	TTAAAACT others(25): Show TTAAAACTTACTATTCAAAATTTGCAAAACTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0031 a0031	a0031c0052 a0031c0052	a0031c0052t0001 a0031c0052t0001	a0031c0052t0001g0017 a0031c0052t0001g0017	1	388	0.0026	-32	c.-52 others(41): Show c.-523_-492delTAAAACTTACTATTCAAAATTTGCAAAACTAA	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding		494		chr9	TogoVar
SPATA5_chr4_122918078_123324433	123007566	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA21309.hp1 NA18522.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0003 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0006g0003 a0001c0001t0019g0001 a0001c0001t0019g0002	3	262	0.0115	-32	c.187 others(53): Show c.1870-20618_1870-20587delATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 NA18946.hp2 HG00733.hp1 HG02109.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0032 a0001c0003t0061 a0001c0001t0001 a0001c0001t0032 a0001c0003t0061	a0001c0001t0001g0204 a0001c0001t0032g0010 a0001c0003t0061g0127 a0001c0001t0001g0204 a0001c0001t0032g0010 a0001c0003t0061g0127	3	300	0.0100	-32	c.-23 others(51): Show c.-23+22833_-23+22864delTTATATATATATATATATATATATAT ATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49436509	GCTGGCCG others(25): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02258.hp2 others(11): Show HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0012g0062	14	158	0.0886	-32	c.-24 others(53): Show c.-243-24238_-243-24207delCCCCCGCCTCCTGGCCGGGCGGGG GGCTGACC	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18950.hp1 NA18972.hp2 others(2): Show HG00621.hp1 NA18950.hp1 NA18972.hp2 NA18978.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0328	5	338	0.0148	-32	c.294 others(47): Show c.294+739_294+770delAAAAAATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp1 HG03834.hp2 others(3): Show HG01109.hp2 HG02602.hp1 HG03834.hp2 HG03942.hp2 NA18970.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0086 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0180	6	338	0.0178	-32	c.294 others(47): Show c.294+741_294+772delAAAATATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819847	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp1 HG01261.hp1 others(15): Show HG00733.hp1 HG01071.hp1 HG01261.hp1 HG02040.hp2 HG02071.hp2 HG02630.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 NA18953.hp1 NA18959.hp2 NA18970.hp1 NA18984.hp1 NA18994.hp1 NA19000.hp2 NA19080.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0095 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183	18	338	0.0533	-32	c.294 others(47): Show c.294+743_294+774delAATATATATATATATATATATATATATATA TA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG03669.hp2 others(2): Show HG02922.hp1 HG03471.hp1 HG03669.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0161	5	338	0.0148	-32	c.294 others(47): Show c.294+766_294+797delATATATATATATATATATATATATATATAT AT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar

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