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
SOAT1_chr1_179288797_179363680	179351021	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01109.hp2 others(2): Show HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0017 a0001c0013t0017 a0001c0013t0067 a0001c0004t0017 a0001c0013t0017 a0001c0013t0067	a0001c0004t0017g0081 a0001c0004t0017g0082 a0001c0004t0017g0083 others(2): Show a0001c0004t0017g0081 a0001c0004t0017g0082 a0001c0004t0017g0083 a0001c0013t0017g0336 a0001c0013t0067g0267	5	382	0.0131	-17	c.145 others(34): Show c.1451-273_1451-257delTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT2_chr12_53098486_53129535	53121793	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	2	410	0.0049	-17	c.123 others(34): Show c.1236+407_1236+423delTTTTTTTTTTTTTTTTT	SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SOHLH2_chr13_36163217_36219556	36173001	TATTTCAG others(10): Show TATTTCAGGTACACGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp1 others(13): Show HG00099.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG03669.hp1 HG04115.hp2 HG06807.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0107 others(9): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0148 a0001c0001t0002g0255	16	420	0.0381	-17	c.100 others(34): Show c.1000+674_1000+690delGCCCGTGTACCTGAAAT	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	9/10			chr13	TogoVar
SON_chr21_33538038_33582481	33577682	CACACACA others(10): Show CACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0212 a0001c0009t0001g0212	1	364	0.0028	-17	c.12 others(28): Show c.1259_*1275delACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		202		chr21	TogoVar
SON_chr21_33538038_33582481	33577685	ACACACAC others(10): Show ACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	-17	c.12 others(28): Show c.1262_*1278delCACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		205		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185806434	CTATTTTT others(10): Show CTATTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0021 a0001c0007t0004g0021	1	312	0.0032	-17	c.-23 others(36): Show c.-237+5213_-237+5229delAAAAAAAAAAAAAAATA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS3_chr8_22546927_22580788	22563698	TATATGTT others(10): Show TATATGTTCTCTCACCAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0002 a0012c0029t0002	a0012c0029t0002g0282 a0012c0029t0002g0282	1	428	0.0023	-17	c.585 others(32): Show c.585-286_585-270delATGTTCTCTCACCAAAT	SORBS3	ENSG00000120896.14	transcript	ENST00000240123.12	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
SORCS1_chr10_106568663_107169706	106750728	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0010 a0001c0022t0001g0010	1	130	0.0077	-17	c.959 others(36): Show c.959+10843_959+10859delTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7257124	GTGAATCT others(10): Show GTGAATCTTGGCCGGGCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0011	1	168	0.0060	-17	c.480 others(36): Show c.480+63999_480+64015delTGAATCTTGGCCGGGCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG01884.hp1 others(10): Show HG01346.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG02895.hp1 HG03130.hp2 HG04115.hp2 NA18943.hp1 NA19010.hp1 NA19043.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0008c0020t0001	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0014 a0001c0001t0003g0023 a0001c0002t0001g0021 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0134 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0003t0001g0119 a0008c0020t0001g0024	13	134	0.0970	-17	c.627 others(36): Show c.627+42863_627+42879delTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104741700	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	134	0.0075	-17	c.627 others(36): Show c.627+99762_627+99778delTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104905345	CTGTGTTG others(10): Show CTGTGTTGGAAAACACCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00642.hp2 others(65): Show HG00140.hp1 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0002c0004 a0002c0013 a0003c0008 a0004c0009 a0005c0007 a0006c0010 a0006c0011 a0009c0019 a0011c0017 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0001c0015t0002 a0002c0004t0001 a0002c0013t0002 a0003c0008t0001 a0004c0009t0002 a0005c0007t0001 a0006c0010t0001 a0006c0011t0001 a0009c0019t0002 a0011c0017t0003 a0013c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0040 others(65): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0123 a0001c0001t0003g0079 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0067 a0001c0001t0004g0125 a0001c0001t0009g0080 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0105 a0001c0002t0002g0053 a0001c0002t0002g0129 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0070 a0001c0002t0003g0118 a0001c0002t0003g0128 a0001c0002t0005g0074 a0001c0002t0007g0078 a0001c0003t0002g0010 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0005t0001g0007 a0001c0005t0001g0081 a0001c0005t0001g0092 a0001c0006t0001g0077 a0001c0015t0002g0130 a0002c0004t0001g0002 a0002c0004t0001g0132 a0002c0013t0002g0131 a0003c0008t0001g0005 a0003c0008t0001g0126 a0004c0009t0002g0096 a0004c0009t0002g0097 a0005c0007t0001g0061 a0005c0007t0001g0062 a0006c0010t0001g0068 a0006c0011t0001g0069 a0009c0019t0002g0109 a0011c0017t0003g0088 a0013c0012t0001g0003	68	134	0.5075	-17	c.696 others(36): Show c.696-10477_696-10461delAACACCATGTGTTGGAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940226	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01358.hp2 HG02738.hp1 others(2): Show HG01169.hp1 HG01358.hp2 HG02738.hp1 HG02976.hp2 HG03688.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0012 a0001c0001 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0013c0012t0001 a0001c0001t0001 a0001c0001t0002 a0013c0012t0001	a0001c0001t0001g0113 a0001c0001t0002g0017 a0001c0001t0002g0018 others(2): Show a0001c0001t0001g0113 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0115 a0013c0012t0001g0003	5	134	0.0373	-17	c.795 others(36): Show c.795+24296_795+24312delATATATATATATTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940228	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01243.hp2 others(4): Show HG00140.hp2 HG01123.hp1 HG01243.hp2 HG01515.hp1 HG04204.hp1 NA18941.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0002g0099 a0001c0001t0010g0127 a0001c0002t0001g0035 a0001c0002t0001g0102	7	134	0.0522	-17	c.795 others(36): Show c.795+24298_795+24314delATATATATATTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940230	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	134	0.0075	-17	c.795 others(36): Show c.795+24300_795+24316delATATATATTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242759	TTTTATAT others(10): Show TTTTATATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0072 a0001c0002t0001g0051 a0001c0001t0001g0072 a0001c0002t0001g0051	2	134	0.0149	-17	c.286 others(36): Show c.2869-2771_2869-2755delTATATATTTATATATTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORT1_chr1_109304575_109402918	109378745	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	240	0.0042	-17	c.307 others(34): Show c.307-9173_307-9157delTATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50192143	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01175.hp2 HG00323.hp2 HG00642.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355 a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355	3	382	0.0079	-17	c.511 others(34): Show c.511-3460_511-3444delTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470075	TATATATA others(10): Show TATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	422	0.0024	-17	c.-44 others(28): Show c.-4424_-4408delTATATATATATATATAT	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4338		chr7	TogoVar
SOX11_chr2_5687384_5706385	5706368	ACTGGGGT others(10): Show ACTGGGGTGGAGAAGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02132.hp1 HG04115.hp2 HG01261.hp2 HG02132.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0162 a0001c0001t0180 a0001c0001t0051 a0001c0001t0162 a0001c0001t0180	a0001c0001t0051g0000 a0001c0001t0162g0000 a0001c0001t0180g0000 a0001c0001t0051g0000 a0001c0001t0162g0000 a0001c0001t0180g0000	3	434	0.0069	-17	c.12 others(30): Show c.12322_*12338delCTGGGGTGGAGAAGCTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4984		chr2	TogoVar
SOX13_chr1_204068115_204132743	204076491	AAGTGTCA others(10): Show AAGTGTCACCTCCAACTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20129.hp1 HG02622.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0273 a0001c0001t0003g0274 a0001c0001t0001g0273 a0001c0001t0003g0274	2	364	0.0055	-17	c.-2+ others(32): Show c.-2+2781_-2+2797delAGTGTCACCTCCAACTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13			chr1	TogoVar
SOX13_chr1_204068115_204132743	204115657	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	364	0.0028	-17	c.419 others(32): Show c.419-841_419-825delTTTTTTTTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX3_chrX_140497985_140510069	140502233	AAGTGGGG others(10): Show AAGTGGGGAGGGGGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0004 a0001c0009 others(7): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0003c0003 a0004c0005 a0005c0006 a0006c0010 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0004t0001 a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0010t0001 a0007c0008t0001 a0008c0007t0008	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(14): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0004t0001g0000 a0001c0009t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0006t0001g0000 a0006c0010t0001g0000 a0007c0008t0001g0000 a0008c0007t0008g0000	315	339	0.9292	-17	c.14 others(28): Show c.1470_*1486delCCATCCCCCTCCCCACT	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		751		chrX	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	212	0.0047	-17	c.134 others(36): Show c.1342+4721_1342+4737delATATATATATTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0180 a0001c0002t0005g0180	1	212	0.0047	-17	c.134 others(36): Show c.1342+4719_1342+4735delATATATATATATTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570927	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0071 a0001c0002t0005g0071	1	212	0.0047	-17	c.134 others(36): Show c.1342+4717_1342+4733delATATATATATATATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04204.hp1 HG00741.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0039 a0001c0001t0008 a0001c0001t0039	a0001c0001t0008g0035 a0001c0001t0039g0004 a0001c0001t0008g0035 a0001c0001t0039g0004	2	212	0.0094	-17	c.134 others(36): Show c.1342+4713_1342+4729delATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063495	TTTATATA others(10): Show TTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	218	0.0046	-17	c.110 others(36): Show c.1102-7611_1102-7595delTATATATATATATATAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16126473	CCCTGCTC others(10): Show CCCTGCTCTACAACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0216 a0001c0002t0043g0216	1	218	0.0046	-17	c.778 others(36): Show c.778-14567_778-14551delACTGGTTGTAGAGCAGG	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(10): Show GAAAGAAAAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	218	0.0046	-17	c.778 others(36): Show c.778-20488_778-20472delTTCTTTCTTTTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10734485	GCGGCTAC others(10): Show GCGGCTACAAAGGCCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(121): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02622.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA19059.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0017 others(3): Show a0001c0001 a0001c0002 a0001c0017 a0002c0005 a0003c0009 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0047 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0023 a0001c0002t0030 a0001c0002t0033 a0001c0002t0045 a0001c0017t0008 a0002c0005t0001 a0003c0009t0020 a0005c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0006g0077 a0001c0001t0006g0117 a0001c0001t0008g0016 a0001c0001t0008g0099 a0001c0001t0009g0045 a0001c0001t0010g0046 a0001c0001t0025g0108 a0001c0001t0026g0109 a0001c0001t0031g0110 a0001c0001t0032g0111 a0001c0001t0037g0097 a0001c0001t0047g0128 a0001c0002t0001g0030 a0001c0002t0001g0053 a0001c0002t0001g0106 a0001c0002t0001g0121 a0001c0002t0003g0008 a0001c0002t0003g0017 a0001c0002t0009g0105 a0001c0002t0013g0139 a0001c0002t0015g0024 a0001c0002t0023g0104 a0001c0002t0030g0124 a0001c0002t0033g0107 a0001c0002t0045g0129 a0001c0017t0008g0098 a0002c0005t0001g0022 a0003c0009t0020g0048 a0005c0016t0001g0116	124	462	0.2684	-17	c.-40 others(28): Show c.-4069_-4053delTCTGGCCTTTGTAGCCG	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		3975		chr8	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01361.hp1 others(20): Show HG00735.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02897.hp2 NA18522.hp2 NA18906.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0007c0010 a0010c0012	a0001c0001t0002 a0001c0001t0006 a0001c0003t0006 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0006 a0001c0003t0019 a0001c0007t0017 a0002c0002t0001 a0002c0002t0009 a0002c0002t0024 a0007c0010t0001 a0010c0012t0009	a0001c0001t0002g0101 a0001c0001t0002g0174 a0001c0001t0002g0275 others(20): Show a0001c0001t0002g0101 a0001c0001t0002g0174 a0001c0001t0002g0275 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0251 a0001c0003t0006g0090 a0001c0003t0019g0180 a0001c0007t0017g0030 a0002c0002t0001g0139 a0002c0002t0001g0143 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0216 a0002c0002t0001g0224 a0002c0002t0009g0221 a0002c0002t0009g0245 a0002c0002t0024g0214 a0007c0010t0001g0167 a0010c0012t0009g0086	23	290	0.0793	-17	c.205 others(34): Show c.2053-609_2053-593delTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230535906	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0002 a0010 a0002 a0010	a0002c0005 a0010c0012 a0002c0005 a0010c0012	a0002c0005t0001 a0010c0012t0009 a0002c0005t0001 a0010c0012t0009	a0002c0005t0001g0163 a0010c0012t0009g0086 a0002c0005t0001g0163 a0010c0012t0009g0086	2	290	0.0069	-17	c.209 others(36): Show c.2095-3348_2095-3332delAAAAAAAAAAAAAAAAA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP4_chr7_21423083_21519822	21424056	TCGGCTCA others(10): Show TCGGCTCACTATAGCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	426	0.0024	-17	c.-41 others(28): Show c.-4195_-4179delCGGCTCACTATAGCACC	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding		4026		chr7	TogoVar
SP5_chr2_170710337_170723078	170715466	CGGCGGCG others(10): Show CGGCGGCGGCGTCCCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02896.hp2 others(3): Show HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0001 a0002c0001t0004g0001	6	452	0.0133	-17	c.-46 others(24): Show c.-46_-30delGGCGGCGGCGTCCCGCT	SP5	ENSG00000204335.4	transcript	ENST00000375281.4	protein_coding	1/2	30		chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01361.hp2 others(8): Show HG00738.hp2 HG01255.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02572.hp2 HG02723.hp2 HG03130.hp2 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0010 a0001c0001t0001g0001 a0001c0001t0008g0010	11	416	0.0264	-17	c.-40 others(28): Show c.-4060_-4044delTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	392	0.0051	-17	c.-42 others(28): Show c.-4273_-4257delTATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4036		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135306	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	-17	c.27 others(28): Show c.2778_*2794delTTTCTTTCTTTCTTTCT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2687		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135325	TTCTTTCT others(10): Show TTCTTTCTTTCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG03486.hp2 HG01891.hp1 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	312	0.0096	-17	c.27 others(28): Show c.2797_*2813delTCTTTCTTTCTTCCTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2706		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(10): Show AAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01070.hp2 others(20): Show HG00544.hp2 HG00558.hp2 HG01070.hp2 HG01496.hp1 HG01891.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02818.hp2 HG02976.hp1 HG03225.hp2 HG03540.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18964.hp2 NA18985.hp1 NA18987.hp2 NA19058.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0001g0130 others(20): Show a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0346 a0001c0001t0002g0345 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183	23	391	0.0588	-17	c.94+ others(32): Show c.94+6645_94+6661delAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112414388	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	391	0.0026	-17	c.445 others(36): Show c.445+13248_445+13264delTTTTTTTTTTTTTTTTT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213728876	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp1 NA19043.hp2 HG02976.hp2 NA19043.hp1 NA19043.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0006 a0007c0011 a0002c0002 a0006c0006 a0007c0011	a0002c0002t0001 a0006c0006t0001 a0007c0011t0001 a0002c0002t0001 a0006c0006t0001 a0007c0011t0001	a0002c0002t0001g0018 a0006c0006t0001g0024 a0007c0011t0001g0086 a0002c0002t0001g0018 a0006c0006t0001g0024 a0007c0011t0001g0086	3	86	0.0349	-17	c.107 others(40): Show c.1071-133580_1071-133564delAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126043	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20300.hp1 HG01256.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0069 a0002c0002t0001g0076 a0001c0001t0001g0069 a0002c0002t0001g0076	2	86	0.0233	-17	c.159 others(38): Show c.1593+17785_1593+17801delCCTTCCTTCCTTCCTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG4_chr20_35610829_35626094	35615102	AAAAAATA others(10): Show AAAAAATAAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	320	0.0031	-17	c.-90 others(26): Show c.-901_-885delAAAAATAAAAATAAAAT	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		726		chr20	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0344 a0002c0001t0002g0344	1	390	0.0026	-17	c.153 others(36): Show c.1531+3368_1531+3384delAAAAAAAAAAAAAAAAA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10			chr4	TogoVar
SPAST_chr2_32058556_32162637	32083733	ATATATAT others(10): Show ATATATATTTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02630.hp1 HG02717.hp2 others(3): Show HG01934.hp2 HG02630.hp1 HG02717.hp2 HG03130.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0004g0248 a0001c0001t0004g0292 a0001c0001t0005g0197 others(3): Show a0001c0001t0004g0248 a0001c0001t0004g0292 a0001c0001t0005g0197 a0001c0001t0006g0220 a0001c0001t0006g0249 a0001c0001t0006g0252	6	342	0.0175	-17	c.416 others(34): Show c.416-3751_416-3735delTTATATATACTATATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32146801	TTGCAGTA others(10): Show TTGCAGTAAGCCGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp1 others(4): Show HG00423.hp1 HG00597.hp1 HG00621.hp1 HG02165.hp1 NA19004.hp1 NA19068.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0231 a0001c0001t0002g0232 others(4): Show a0001c0001t0002g0189 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240	7	342	0.0205	-17	c.168 others(34): Show c.1688-411_1688-395delTAAGCCGAGCACTGCAG	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24191501	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02280.hp2 others(7): Show HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0030 a0002c0007 a0002c0037 a0005c0010	a0001c0001t0104 a0001c0002t0013 a0001c0002t0050 others(7): Show a0001c0001t0104 a0001c0002t0013 a0001c0002t0050 a0001c0004t0093 a0001c0005t0015 a0001c0005t0057 a0001c0030t0042 a0002c0007t0076 a0002c0037t0043 a0005c0010t0037	a0001c0001t0104g0030 a0001c0002t0013g0202 a0001c0002t0050g0027 others(7): Show a0001c0001t0104g0030 a0001c0002t0013g0202 a0001c0002t0050g0027 a0001c0004t0093g0055 a0001c0005t0015g0204 a0001c0005t0057g0195 a0001c0030t0042g0157 a0002c0007t0076g0200 a0002c0037t0043g0038 a0005c0010t0037g0069	10	356	0.0281	-17	c.-11 others(38): Show c.-112+30579_-112+30595delTTTTTTTTTTTTTTTTT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24288552	TGGAATCC others(10): Show TGGAATCCTTGGGTAAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0013 a0021	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0024 a0001c0047 a0001c0048 a0002c0007 a0002c0008 a0003c0011 a0003c0039 a0004c0012 a0006c0017 a0007c0015 a0008c0016 a0008c0021 a0013c0051 a0021c0034	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(91): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0044 a0001c0001t0113 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0026 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0071 a0001c0002t0075 a0001c0002t0081 a0001c0002t0082 a0001c0002t0117 a0001c0002t0122 a0001c0002t0123 a0001c0002t0129 a0001c0002t0132 a0001c0003t0016 a0001c0003t0020 a0001c0003t0023 a0001c0003t0028 a0001c0004t0001 a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 a0001c0004t0010 a0001c0004t0014 a0001c0004t0018 a0001c0004t0032 a0001c0004t0033 a0001c0004t0072 a0001c0004t0073 a0001c0004t0079 a0001c0004t0080 a0001c0004t0114 a0001c0004t0121 a0001c0005t0015 a0001c0005t0016 a0001c0005t0019 a0001c0005t0046 a0001c0005t0057 a0001c0006t0001 a0001c0006t0007 a0001c0006t0009 a0001c0006t0010 a0001c0006t0014 a0001c0006t0026 a0001c0006t0031 a0001c0006t0038 a0001c0006t0049 a0001c0009t0001 a0001c0009t0007 a0001c0009t0010 a0001c0013t0018 a0001c0024t0100 a0001c0047t0008 a0001c0048t0010 a0002c0007t0048 a0002c0007t0120 a0002c0008t0056 a0002c0008t0058 a0002c0008t0059 a0002c0008t0099 a0002c0008t0102 a0003c0011t0007 a0003c0011t0010 a0003c0039t0002 a0004c0012t0008 a0004c0012t0030 a0006c0017t0041 a0007c0015t0032 a0007c0015t0070 a0007c0015t0078 a0008c0016t0001 a0008c0021t0119 a0013c0051t0018 a0021c0034t0040	a0001c0001t0004g0080 a0001c0001t0004g0205 a0001c0001t0005g0089 others(137): Show a0001c0001t0004g0080 a0001c0001t0004g0205 a0001c0001t0005g0089 a0001c0001t0015g0250 a0001c0001t0016g0143 a0001c0001t0023g0004 a0001c0001t0023g0228 a0001c0001t0044g0018 a0001c0001t0113g0230 a0001c0002t0001g0049 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0084 a0001c0002t0001g0105 a0001c0002t0001g0136 a0001c0002t0001g0147 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0007g0112 a0001c0002t0007g0175 a0001c0002t0008g0090 a0001c0002t0008g0100 a0001c0002t0008g0102 a0001c0002t0008g0103 a0001c0002t0008g0134 a0001c0002t0008g0154 a0001c0002t0009g0319 a0001c0002t0009g0336 a0001c0002t0009g0345 a0001c0002t0010g0275 a0001c0002t0012g0295 a0001c0002t0013g0182 a0001c0002t0013g0348 a0001c0002t0014g0282 a0001c0002t0026g0063 a0001c0002t0026g0206 a0001c0002t0031g0281 a0001c0002t0032g0332 a0001c0002t0033g0222 a0001c0002t0039g0079 a0001c0002t0039g0183 a0001c0002t0040g0046 a0001c0002t0041g0083 a0001c0002t0048g0226 a0001c0002t0049g0335 a0001c0002t0050g0027 a0001c0002t0050g0338 a0001c0002t0071g0184 a0001c0002t0075g0191 a0001c0002t0081g0208 a0001c0002t0082g0061 a0001c0002t0117g0309 a0001c0002t0122g0278 a0001c0002t0123g0234 a0001c0002t0129g0032 a0001c0002t0132g0292 a0001c0003t0016g0092 a0001c0003t0020g0107 a0001c0003t0023g0217 a0001c0003t0023g0218 a0001c0003t0028g0260 a0001c0004t0001g0045 a0001c0004t0001g0078 a0001c0004t0001g0088 a0001c0004t0001g0160 a0001c0004t0007g0086 a0001c0004t0007g0159 a0001c0004t0007g0171 a0001c0004t0008g0093 a0001c0004t0009g0245 a0001c0004t0009g0264 a0001c0004t0009g0268 a0001c0004t0009g0304 a0001c0004t0010g0263 a0001c0004t0014g0305 a0001c0004t0014g0343 a0001c0004t0018g0276 a0001c0004t0032g0328 a0001c0004t0033g0231 a0001c0004t0033g0314 a0001c0004t0072g0122 a0001c0004t0073g0101 a0001c0004t0079g0096 a0001c0004t0080g0179 a0001c0004t0114g0232 a0001c0004t0121g0229 a0001c0005t0015g0211 a0001c0005t0016g0106 a0001c0005t0019g0041 a0001c0005t0019g0128 a0001c0005t0046g0216 a0001c0005t0057g0195 a0001c0006t0001g0127 a0001c0006t0001g0146 a0001c0006t0007g0145 a0001c0006t0009g0238 a0001c0006t0009g0312 a0001c0006t0010g0239 a0001c0006t0010g0240 a0001c0006t0010g0318 a0001c0006t0014g0285 a0001c0006t0014g0306 a0001c0006t0026g0137 a0001c0006t0031g0224 a0001c0006t0038g0187 a0001c0006t0049g0017 a0001c0009t0001g0139 a0001c0009t0001g0140 a0001c0009t0001g0141 a0001c0009t0007g0117 a0001c0009t0010g0288 a0001c0009t0010g0294 a0001c0013t0018g0355 a0001c0024t0100g0350 a0001c0047t0008g0131 a0001c0048t0010g0296 a0002c0007t0048g0351 a0002c0007t0120g0339 a0002c0008t0056g0116 a0002c0008t0058g0050 a0002c0008t0059g0199 a0002c0008t0099g0340 a0002c0008t0102g0270 a0003c0011t0007g0125 a0003c0011t0007g0180 a0003c0011t0010g0327 a0003c0039t0002g0043 a0004c0012t0008g0151 a0004c0012t0030g0220 a0004c0012t0030g0241 a0004c0012t0030g0242 a0006c0017t0041g0097 a0007c0015t0032g0244 a0007c0015t0070g0039 a0007c0015t0078g0349 a0008c0016t0001g0065 a0008c0016t0001g0113 a0008c0021t0119g0266 a0013c0051t0018g0311 a0021c0034t0040g0342	140	356	0.3933	-17	c.266 others(34): Show c.2668-436_2668-420delGGTAAGAGGAATCCTTG	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA18_chr4_52046304_52102299	52047798	TATTTATT others(10): Show TATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03669.hp1 NA19043.hp1 HG03540.hp2 HG03669.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0004 a0003c0005t0017 a0003c0005t0001 a0003c0005t0004 a0003c0005t0017	a0003c0005t0001g0118 a0003c0005t0004g0120 a0003c0005t0017g0119 a0003c0005t0001g0118 a0003c0005t0004g0120 a0003c0005t0017g0119	3	308	0.0097	-17	c.-39 others(28): Show c.-3906_-3890delATTTATTTATTTATTTA	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding		3505		chr4	TogoVar

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