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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 NA19030.hp1 HG02717.hp1 HG02886.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0006 a0001c0003t0001 a0001c0001t0002 a0001c0002t0006 a0001c0003t0001	a0001c0001t0002g0074 a0001c0002t0006g0051 a0001c0003t0001g0089 a0001c0001t0002g0074 a0001c0002t0006g0051 a0001c0003t0001g0089	3	130	0.0231	21	c.559 others(40): Show c.559-13757_559-13756insAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01981.hp2 others(2): Show HG00438.hp2 HG00609.hp1 HG01981.hp2 HG02071.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0003t0001 a0001c0004t0014	a0001c0001t0004g0004 a0001c0001t0018g0085 a0001c0001t0019g0104 others(2): Show a0001c0001t0004g0004 a0001c0001t0018g0085 a0001c0001t0019g0104 a0001c0003t0001g0019 a0001c0004t0014g0088	5	130	0.0385	21	c.559 others(40): Show c.559-78121_559-78101dupTTTTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7255845	G G	GTGGGGAC others(14): Show GTGGGGACCCGGGGTTGGTGCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01952.hp1 HG01070.hp2 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0008 a0001c0001t0003 a0002c0004t0008	a0001c0001t0003g0053 a0002c0004t0008g0060 a0001c0001t0003g0053 a0002c0004t0008g0060	2	168	0.0119	21	c.480 others(40): Show c.480+62732_480+62733insTTGGTGCATGGGGACCCGGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7255851	A A	ACCCGGGG others(14): Show ACCCGGGGCTGGAGCGTGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0010 others(1): Show a0001c0002 a0001c0006 a0001c0010 a0001c0036	a0001c0002t0006 a0001c0006t0005 a0001c0010t0027 others(1): Show a0001c0002t0006 a0001c0006t0005 a0001c0010t0027 a0001c0036t0044	a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0006t0005g0165 others(2): Show a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0006t0005g0165 a0001c0010t0027g0105 a0001c0036t0044g0022	5	168	0.0298	21	c.480 others(40): Show c.480+62746_480+62766dupCCCCGGGGCTGGAGCGTGGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7295112	T T	TCCCTCCT others(14): Show TCCCTCCTCCTCTTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG02300.hp2 others(5): Show HG01167.hp1 HG02258.hp1 HG02300.hp2 HG02922.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0017	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0028 a0003c0013 a0006c0018 a0017c0054	a0001c0002t0001 a0001c0003t0019 a0001c0009t0051 others(5): Show a0001c0002t0001 a0001c0003t0019 a0001c0009t0051 a0001c0010t0076 a0001c0028t0028 a0003c0013t0021 a0006c0018t0059 a0017c0054t0022	a0001c0002t0001g0123 a0001c0003t0019g0023 a0001c0009t0051g0042 others(5): Show a0001c0002t0001g0123 a0001c0003t0019g0023 a0001c0009t0051g0042 a0001c0010t0076g0163 a0001c0028t0028g0152 a0003c0013t0021g0100 a0006c0018t0059g0145 a0017c0054t0022g0113	8	168	0.0476	21	c.481 others(42): Show c.481-101163_481-101143dupTCCTCCTCCCCCTCCTCCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	168	0.0060	21	c.481 others(40): Show c.481-22809_481-22808insATATATATATATTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	168	0.0060	21	c.548 others(38): Show c.548+7643_548+7644insATATATATATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403998	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0031 a0009c0025t0031	a0009c0025t0031g0025 a0009c0025t0031g0025	1	168	0.0060	21	c.548 others(38): Show c.548+7643_548+7644insATATATATATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448838	C C	CTCCTCCC others(14): Show CTCCTCCCTCCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0045 a0005c0045	a0005c0045t0001 a0005c0045t0001	a0005c0045t0001g0148 a0005c0045t0001g0148	1	168	0.0060	21	c.548 others(40): Show c.548+52483_548+52484insTCCTCCCTCCCCTCCCTCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7539680	A A	ACCCCCGT others(14): Show ACCCCCGTTATGGAGGCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(71): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0008 a0011 a0014 a0015 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0017 a0001c0026 a0001c0031 a0001c0051 a0002c0004 a0002c0050 a0004c0007 a0006c0018 a0008c0052 a0011c0027 a0014c0024 a0015c0023 a0016c0019 a0018c0055	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(56): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0032 a0001c0001t0050 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0035 a0001c0002t0041 a0001c0002t0043 a0001c0002t0047 a0001c0002t0058 a0001c0002t0061 a0001c0002t0065 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0016 a0001c0003t0064 a0001c0006t0001 a0001c0006t0005 a0001c0006t0017 a0001c0011t0016 a0001c0011t0017 a0001c0017t0005 a0001c0017t0016 a0001c0026t0062 a0001c0031t0026 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0012 a0002c0004t0014 a0002c0004t0024 a0002c0050t0045 a0004c0007t0001 a0006c0018t0059 a0008c0052t0004 a0011c0027t0002 a0014c0024t0049 a0015c0023t0008 a0016c0019t0018 a0018c0055t0048	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0003g0053 others(71): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0006g0111 a0001c0001t0008g0142 a0001c0001t0009g0014 a0001c0001t0009g0085 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0017g0003 a0001c0001t0020g0052 a0001c0001t0032g0141 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0002t0001g0087 a0001c0002t0002g0062 a0001c0002t0002g0133 a0001c0002t0006g0077 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0007g0008 a0001c0002t0010g0045 a0001c0002t0035g0090 a0001c0002t0041g0096 a0001c0002t0043g0070 a0001c0002t0047g0020 a0001c0002t0058g0019 a0001c0002t0061g0121 a0001c0002t0065g0004 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0003g0088 a0001c0003t0008g0135 a0001c0003t0009g0086 a0001c0003t0011g0080 a0001c0003t0015g0140 a0001c0003t0016g0091 a0001c0003t0064g0005 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0005g0165 a0001c0006t0017g0117 a0001c0011t0016g0076 a0001c0011t0017g0120 a0001c0017t0005g0056 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0031t0026g0144 a0001c0051t0001g0068 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0046 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0012g0035 a0002c0004t0014g0110 a0002c0004t0024g0057 a0002c0004t0024g0114 a0002c0050t0045g0132 a0004c0007t0001g0126 a0006c0018t0059g0145 a0008c0052t0004g0030 a0011c0027t0002g0116 a0014c0024t0049g0108 a0015c0023t0008g0122 a0016c0019t0018g0027 a0018c0055t0048g0150	74	168	0.4405	21	c.648 others(38): Show c.648+8055_648+8075dupCCGTTATGGAGGCCCCGCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724126	G G	GGTGGTGG others(14): Show GGTGGTGGTGATGGTGGTGATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0115 a0001c0002t0067g0115	1	168	0.0060	21	c.261 others(38): Show c.2611+252_2611+253insATGGTGGTGATAGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0076 a0002c0004t0001g0002 a0001c0001t0001g0076 a0002c0004t0001g0002	2	134	0.0149	21	c.627 others(40): Show c.627+93503_627+93523dupTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104786549	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01433.hp1 others(4): Show HG01070.hp2 HG01175.hp2 HG01433.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008	a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0003c0008t0001	a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0133 others(4): Show a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0002t0003g0004 a0001c0002t0003g0128 a0001c0003t0003g0055 a0003c0008t0001g0005	7	134	0.0522	21	c.628 others(40): Show c.628-56235_628-56215dupATAATAATAATAATAATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0020 a0001c0002t0011g0020	1	134	0.0075	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATATATATATTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	134	0.0075	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATATATATTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	134	0.0075	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104957554	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	134	0.0075	21	c.796 others(40): Show c.796-19781_796-19780insCACACACACACACACACACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105207272	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01257.hp1 others(11): Show HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG03471.hp1 HG04204.hp1 NA18941.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0001t0010 a0001c0018t0002 a0001c0001t0002 a0001c0001t0010 a0001c0018t0002	a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0066 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0010g0127 a0001c0018t0002g0064	14	134	0.1045	21	c.226 others(40): Show c.2262-3853_2262-3833dupATTATTATTATTATTATTATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02647.hp1 HG02738.hp1 others(1): Show HG01099.hp2 HG02647.hp1 HG02738.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0065 others(1): Show a0001c0002 a0001c0003 a0001c0065 a0002c0025	a0001c0002t0001 a0001c0003t0018 a0001c0065t0003 others(1): Show a0001c0002t0001 a0001c0003t0018 a0001c0065t0003 a0002c0025t0003	a0001c0002t0001g0139 a0001c0003t0018g0191 a0001c0065t0003g0152 others(1): Show a0001c0002t0001g0139 a0001c0003t0018g0191 a0001c0065t0003g0152 a0002c0025t0003g0260	4	272	0.0147	21	c.168 others(40): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0159 a0002c0005t0003g0159	1	272	0.0037	21	c.205 others(40): Show c.2051+1996_2051+2016dupAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp2 others(10): Show HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 NA18522.hp2 NA18612.hp1 NA18960.hp1 NA18977.hp1 NA18982.hp2 NA18988.hp2 NA19002.hp2 NA19065.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0001c0004t0013	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0011g0181 a0001c0001t0011g0182 a0001c0001t0011g0183 a0001c0001t0018g0047 a0001c0004t0013g0001	13	246	0.0529	21	c.865 others(38): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50122391	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	382	0.0026	21	c.338 others(40): Show c.3380-2008_3380-2007insAAAAAAGAAAAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	21/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50135089	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0353 a0001c0005t0001g0353	1	382	0.0026	21	c.295 others(38): Show c.2959-851_2959-850insCTTTCTTTCTTTCTTTCTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 NA18984.hp2 others(2): Show HG02145.hp1 HG02451.hp2 NA18984.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0245 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0245 a0001c0001t0001g0286 a0001c0001t0001g0288	5	382	0.0131	21	c.511 others(36): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224883	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	382	0.0026	21	c.87+ others(36): Show c.87+6313_87+6314insTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03471.hp2 others(1): Show HG02723.hp1 HG02818.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0000 a0001c0003t0005g0000 a0001c0003t0001g0000 a0001c0003t0005g0000	4	404	0.0099	21	c.-58 others(30): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp1 others(2): Show HG00741.hp1 HG00741.hp2 HG01099.hp1 NA18747.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0002t0001g0000 a0002c0002t0012g0000	5	404	0.0124	21	c.-58 others(30): Show c.-586_-585insAAAAAAAAAAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813040	A A	AAAAAAAA others(14): Show AAAAAAAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(46): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02083.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02735.hp2 HG02970.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 NA18942.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18997.hp1 NA18998.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0002c0008 a0006c0010 others(1): Show a0002c0002 a0002c0008 a0006c0010 a0007c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0008t0008 a0006c0010t0014 a0007c0011t0002	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0009g0000 others(3): Show a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0008t0008g0000 a0006c0010t0014g0000 a0007c0011t0002g0000	49	404	0.1213	21	c.-58 others(30): Show c.-582_-581insAAAAAAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		261		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813040	A A	AAAAACAA others(14): Show AAAAACAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03041.hp1 others(1): Show HG02622.hp2 HG02647.hp2 HG03041.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0000 a0002c0002t0007g0000	4	404	0.0099	21	c.-58 others(30): Show c.-582_-581insAAAACAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		261		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813044	A A	ACAAACAA others(14): Show ACAAACAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	404	0.0025	21	c.-57 others(30): Show c.-578_-577insCAAACAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		257		chr5	TogoVar
SOX13_chr1_204068115_204132743	204129288	T T	TCTCCGCC others(14): Show TCTCCGCCCTCCCCTCTCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0209 a0003c0003t0009g0209	1	364	0.0028	21	c.31 others(32): Show c.3154_*3155insCTCCGCCCTCCCCTCTCCGCC	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding		1546		chr1	TogoVar
SOX18_chr20_64042582_64054639	64042894	G G	GCGGGGGT others(14): Show GCGGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	21	c.52 others(32): Show c.5271_*5272insTCCCGTCCCCCACGACCCCCG	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4687		chr20	TogoVar
SOX18_chr20_64042582_64054639	64045020	G G	GGGGCGGT others(14): Show GGGGCGGTGGTCCTGCCTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	352	0.0028	21	c.31 others(32): Show c.3145_*3146insTCCTAGGCAGGACCACCGCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		2561		chr20	TogoVar
SOX18_chr20_64042582_64054639	64045020	G G	GGGGCGGT others(14): Show GGGGCGGTGGTCCTGCCTAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03516.hp2 others(3): Show HG02976.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0002t0001g0019 a0001c0003t0001g0010 a0001c0001t0001g0001 a0001c0002t0001g0019 a0001c0003t0001g0010	6	352	0.0171	21	c.31 others(32): Show c.3145_*3146insGCCTAGGCAGGACCACCGCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		2561		chr20	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 NA19030.hp1 HG02257.hp2 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129	3	394	0.0076	21	c.188 others(40): Show c.1881-5347_1881-5327dupTTTTTTTTTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0040 a0001c0001t0030g0040	1	212	0.0047	21	c.116 others(40): Show c.1165-2300_1165-2280dupTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603447	T T	TATATATA others(14): Show TATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00738.hp2 others(22): Show HG00609.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG02132.hp2 HG02738.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18959.hp2 NA18994.hp1 NA18994.hp2 NA19077.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0070 a0001c0001t0073 a0001c0001t0077 a0001c0001t0078 a0001c0001t0089 a0001c0001t0091 a0001c0001t0094 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0122 a0001c0002t0005	a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0015g0174 others(22): Show a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0015g0174 a0001c0001t0017g0151 a0001c0001t0023g0026 a0001c0001t0023g0049 a0001c0001t0024g0034 a0001c0001t0029g0027 a0001c0001t0030g0099 a0001c0001t0031g0005 a0001c0001t0032g0141 a0001c0001t0032g0191 a0001c0001t0070g0137 a0001c0001t0073g0189 a0001c0001t0077g0052 a0001c0001t0078g0054 a0001c0001t0089g0202 a0001c0001t0091g0178 a0001c0001t0094g0133 a0001c0001t0098g0138 a0001c0001t0102g0016 a0001c0001t0103g0064 a0001c0001t0104g0134 a0001c0001t0122g0069 a0001c0002t0005g0101	25	212	0.1179	21	c.116 others(38): Show c.1164+939_1164+940insTTTATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp2 HG02451.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0053 a0001c0001t0001 a0001c0002t0053	a0001c0001t0001g0084 a0001c0002t0053g0095 a0001c0001t0001g0084 a0001c0002t0053g0095	2	212	0.0094	21	c.811 others(38): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0154 a0001c0001t0054g0154	1	212	0.0047	21	c.270 others(40): Show c.270+23608_270+23628dupAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX8_chr16_976770_991979	977693	C C	CGGGGAGG others(14): Show CGGGGAGGACGGGCAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0006 a0001c0001t0033g0006	1	434	0.0023	21	c.-42 others(32): Show c.-4230_-4229insGGGGAGGACGGGCAGGGAGGG	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4076		chr16	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19057.hp2 HG00408.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0064 a0001c0001t0003g0190 a0001c0001t0002g0064 a0001c0001t0003g0190	2	428	0.0047	21	c.898 others(38): Show c.898+1395_898+1396insTATATATATATATATATATAT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00621.hp1 others(13): Show HG00140.hp2 HG00597.hp1 HG00621.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02129.hp2 HG02602.hp2 HG03834.hp1 HG04204.hp2 NA18957.hp2 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA19009.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0013 others(1): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 a0003c0003t0001	a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0120 others(13): Show a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0316 a0002c0002t0001g0143 a0002c0002t0001g0240 a0002c0013t0001g0146 a0003c0003t0001g0130 a0003c0003t0001g0147 a0003c0003t0001g0156	16	336	0.0476	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354885	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02015.hp2 HG00438.hp2 HG00673.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0145 a0001c0001t0001g0007 a0001c0001t0001g0145	3	336	0.0089	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAGAAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354894	A A	AAAGAAAG others(14): Show AAAGAAAGAAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0077 a0001c0004t0002g0077	1	336	0.0030	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAAGAAAGAAAGGAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0135 a0001c0001t0007g0139 a0001c0001t0007g0135 a0001c0001t0007g0139	2	356	0.0056	21	c.163 others(42): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906578	T T	TCACCACC others(14): Show TCACCACCTCCACCACCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	420	0.0024	21	c.-32 others(32): Show c.-3294_-3293insCACCACCTCCACCACCACCTC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2911		chr9	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	292	0.0034	21	c.32 others(32): Show c.3270_*3271insAAAAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAAGAG others(14): Show AAGAAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	391	0.0026	21	c.94+ others(36): Show c.94+6550_94+6551insAGAGAGAGAGAGAGAAAGAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	131	0.0076	21	c.23 others(32): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213342283	A A	ATGTATAT others(14): Show ATGTATATATATGACATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0084 a0011c0008t0001g0084	1	86	0.0116	21	c.644 others(38): Show c.644+2024_644+2025insGACATATATGTGTATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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