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
SON_chr21_33538038_33582481	33547596	A A	ATTGAAGT others(16): Show ATTGAAGTATGACTTATCTAACAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	364	0.0028	23	c.244 others(40): Show c.244+1220_244+1242dupGAAGTATGACTTATCTAACATTT	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33580463	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	364	0.0028	23	c.40 others(34): Show c.4039_*4040insAAAAAAAAAAAAAAAAAAAAAAA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		2983		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01928.hp2 HG02145.hp1 others(12): Show HG01515.hp1 HG01928.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp2 HG03492.hp2 HG03942.hp2 HG04228.hp1 NA18953.hp1 NA18964.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0002c0006 others(1): Show a0001c0002 a0001c0003 a0002c0006 a0007c0016	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0002c0006t0002 a0007c0016t0002	a0001c0002t0001g0112 a0001c0002t0001g0149 a0001c0002t0002g0052 others(12): Show a0001c0002t0001g0112 a0001c0002t0001g0149 a0001c0002t0002g0052 a0001c0002t0002g0138 a0001c0003t0002g0050 a0001c0003t0002g0084 a0001c0003t0002g0127 a0001c0003t0002g0187 a0001c0003t0002g0190 a0001c0003t0002g0241 a0002c0006t0002g0044 a0002c0006t0002g0049 a0002c0006t0002g0083 a0002c0006t0002g0104 a0007c0016t0002g0095	15	300	0.0500	23	c.238 others(40): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365171	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	300	0.0033	23	c.195 others(42): Show c.1955+2478_1955+2479insCACACACACACACACACACACAC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19065.hp2 HG02129.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0265 a0001c0001t0002g0187 a0001c0001t0001g0265 a0001c0001t0002g0187	2	312	0.0064	23	c.-40 others(42): Show c.-40-18694_-40-18693insAAAAAAAAAAAAAAAAAAAAAAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp1 others(10): Show HG00408.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp1 HG01358.hp2 HG02155.hp2 HG02165.hp2 HG04115.hp2 NA18945.hp2 NA18972.hp2 NA18983.hp2 NA18991.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0022 a0001c0001 a0001c0018 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023 a0001c0018t0002 a0001c0022t0007	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0258 others(10): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0258 a0001c0001t0002g0109 a0001c0001t0002g0214 a0001c0001t0003g0176 a0001c0001t0005g0157 a0001c0001t0009g0227 a0001c0001t0011g0032 a0001c0001t0013g0236 a0001c0001t0023g0119 a0001c0018t0002g0237 a0001c0022t0007g0193	13	312	0.0417	23	c.-96 others(42): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106944871	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0002 a0001c0004t0007g0002	1	130	0.0077	23	c.626 others(42): Show c.626+11641_626+11642insAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02559.hp2 others(4): Show HG01891.hp1 HG02257.hp1 HG02559.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG06807.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0003c0025 a0004c0008 a0010c0012	a0001c0001t0020 a0001c0003t0001 a0001c0004t0007 others(4): Show a0001c0001t0020 a0001c0003t0001 a0001c0004t0007 a0001c0013t0007 a0003c0025t0001 a0004c0008t0005 a0010c0012t0005	a0001c0001t0020g0021 a0001c0003t0001g0033 a0001c0004t0007g0046 others(4): Show a0001c0001t0020g0021 a0001c0003t0001g0033 a0001c0004t0007g0046 a0001c0013t0007g0065 a0003c0025t0001g0044 a0004c0008t0005g0092 a0010c0012t0005g0067	7	130	0.0539	23	c.559 others(42): Show c.559-13757_559-13756insAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01258.hp2 HG01070.hp2 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0002c0004t0008 a0001c0001t0008 a0002c0004t0008	a0001c0001t0008g0142 a0002c0004t0008g0060 a0001c0001t0008g0142 a0002c0004t0008g0060	2	168	0.0119	23	c.481 others(42): Show c.481-22809_481-22808insATATATATATATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7663174	T T	TGAGTGAA others(16): Show TGAGTGAATGAGTGAGTGAGTGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	168	0.0060	23	c.953 others(40): Show c.953-1160_953-1138dupGTGAAGAGTGAATGAGTGAGTGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676799	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0147 a0001c0003t0052g0147	1	168	0.0060	23	c.134 others(40): Show c.1341+570_1341+571insCTCTCTCTCTCTCTCTCTCTCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	134	0.0075	23	c.627 others(42): Show c.627+29376_627+29398dupTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG03516.hp1 others(4): Show HG00741.hp1 HG01106.hp1 HG03516.hp1 HG04115.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0002g0110 a0001c0001t0003g0033 others(4): Show a0001c0001t0001g0124 a0001c0001t0002g0110 a0001c0001t0003g0033 a0001c0001t0004g0028 a0001c0002t0001g0021 a0001c0002t0001g0043 a0001c0002t0001g0089	7	134	0.0522	23	c.627 others(42): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGAGA others(16): Show GGAGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	134	0.0075	23	c.628 others(42): Show c.628-48167_628-48166insGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940239	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	134	0.0075	23	c.795 others(42): Show c.795+24307_795+24308insATATATATATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105129331	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0080 a0001c0001t0009g0080	1	134	0.0075	23	c.121 others(44): Show c.1213-10065_1213-10064insCTCTCTCTCTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG02965.hp1 others(2): Show HG01074.hp2 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0011 a0001c0012 a0001c0039 others(2): Show a0001c0011 a0001c0012 a0001c0039 a0002c0025 a0012c0064	a0001c0011t0002 a0001c0012t0002 a0001c0039t0002 others(2): Show a0001c0011t0002 a0001c0012t0002 a0001c0039t0002 a0002c0025t0005 a0012c0064t0024	a0001c0011t0002g0271 a0001c0012t0002g0178 a0001c0039t0002g0267 others(2): Show a0001c0011t0002g0271 a0001c0012t0002g0178 a0001c0039t0002g0267 a0002c0025t0005g0179 a0012c0064t0024g0168	5	272	0.0184	23	c.168 others(42): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00741.hp2 others(38): Show HG00323.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 NA18942.hp1 NA18955.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA19068.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0029 a0001c0001t0033 a0001c0008t0003 a0002c0003t0003 a0003c0007t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 others(38): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0112 a0001c0001t0003g0139 a0001c0001t0003g0165 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0004g0006 a0001c0001t0004g0024 a0001c0001t0004g0048 a0001c0001t0004g0057 a0001c0001t0005g0179 a0001c0001t0009g0012 a0001c0001t0010g0013 a0001c0001t0010g0166 a0001c0001t0012g0186 a0001c0001t0012g0188 a0001c0001t0014g0171 a0001c0001t0029g0067 a0001c0001t0033g0185 a0001c0008t0003g0141 a0002c0003t0003g0163 a0002c0003t0003g0164 a0003c0007t0001g0140	41	246	0.1667	23	c.865 others(40): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01069.hp1 others(31): Show HG00558.hp2 HG00673.hp2 HG01069.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02630.hp2 HG02698.hp2 HG02896.hp1 HG03017.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19078.hp2 NA19083.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0008 a0001c0001 a0001c0003 a0007c0008	a0001c0001t0001 a0001c0003t0001 a0007c0008t0001 a0001c0001t0001 a0001c0003t0001 a0007c0008t0001	a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 others(31): Show a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0347 a0001c0003t0001g0350 a0001c0003t0001g0351 a0007c0008t0001g0255	34	382	0.0890	23	c.511 others(38): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG02615.hp2 others(3): Show HG01169.hp1 HG01243.hp1 HG02615.hp2 HG02886.hp2 HG03041.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0007 a0001c0003 a0005c0007	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0005c0007t0005	a0001c0003t0001g0000 a0001c0003t0003g0000 a0001c0003t0005g0000 others(1): Show a0001c0003t0001g0000 a0001c0003t0003g0000 a0001c0003t0005g0000 a0005c0007t0005g0000	6	404	0.0149	23	c.-58 others(32): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813039	A A	AAAAAAAA others(16): Show AAAAAAAAAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	404	0.0025	23	c.-58 others(32): Show c.-583_-582insAAAAAAAAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		262		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813042	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	404	0.0025	23	c.-58 others(32): Show c.-580_-579insAAAAAAAAAAAAAAAAAAAAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		259		chr5	TogoVar
SOX11_chr2_5687384_5706385	5699893	T T	TAAAGGAG others(16): Show TAAAGGAGACCTATTTTTATACTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0000 a0001c0001t0086g0000	1	434	0.0023	23	c.58 others(34): Show c.5849_*5871dupAGGAGACCTATTTTTATACTCAA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding	1/1	5872	INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX11_chr2_5687384_5706385	5705807	A A	AGGAGGAG others(16): Show AGGAGGAGCTGGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(240): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0084 a0001c0001t0085 a0001c0001t0089 a0001c0001t0104 a0001c0001t0108 a0001c0001t0109 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0132 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0162 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0182 a0001c0001t0184 a0001c0001t0185 a0001c0001t0187 a0001c0001t0189 a0001c0001t0191 a0001c0001t0194 a0001c0001t0195 a0001c0001t0196 a0001c0001t0201 a0001c0003t0064 a0001c0004t0176	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(115): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0032g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0038g0000 a0001c0001t0041g0000 a0001c0001t0043g0000 a0001c0001t0044g0000 a0001c0001t0045g0000 a0001c0001t0048g0000 a0001c0001t0049g0000 a0001c0001t0050g0000 a0001c0001t0051g0000 a0001c0001t0052g0000 a0001c0001t0053g0000 a0001c0001t0054g0000 a0001c0001t0055g0000 a0001c0001t0056g0000 a0001c0001t0057g0000 a0001c0001t0058g0000 a0001c0001t0059g0000 a0001c0001t0061g0000 a0001c0001t0062g0000 a0001c0001t0063g0000 a0001c0001t0065g0000 a0001c0001t0066g0000 a0001c0001t0067g0000 a0001c0001t0068g0000 a0001c0001t0069g0000 a0001c0001t0070g0000 a0001c0001t0071g0000 a0001c0001t0072g0000 a0001c0001t0073g0000 a0001c0001t0077g0000 a0001c0001t0084g0000 a0001c0001t0085g0000 a0001c0001t0089g0000 a0001c0001t0104g0000 a0001c0001t0108g0000 a0001c0001t0109g0000 a0001c0001t0113g0000 a0001c0001t0114g0000 a0001c0001t0116g0000 a0001c0001t0117g0000 a0001c0001t0118g0000 a0001c0001t0119g0000 a0001c0001t0121g0000 a0001c0001t0123g0000 a0001c0001t0125g0000 a0001c0001t0126g0000 a0001c0001t0127g0000 a0001c0001t0132g0000 a0001c0001t0134g0000 a0001c0001t0135g0000 a0001c0001t0136g0000 a0001c0001t0137g0000 a0001c0001t0140g0000 a0001c0001t0141g0000 a0001c0001t0143g0000 a0001c0001t0144g0000 a0001c0001t0147g0000 a0001c0001t0149g0000 a0001c0001t0150g0000 a0001c0001t0152g0000 a0001c0001t0153g0000 a0001c0001t0154g0000 a0001c0001t0157g0000 a0001c0001t0158g0000 a0001c0001t0159g0000 a0001c0001t0160g0000 a0001c0001t0162g0000 a0001c0001t0164g0000 a0001c0001t0165g0000 a0001c0001t0166g0000 a0001c0001t0167g0000 a0001c0001t0168g0000 a0001c0001t0169g0000 a0001c0001t0170g0000 a0001c0001t0171g0000 a0001c0001t0172g0000 a0001c0001t0173g0000 a0001c0001t0174g0000 a0001c0001t0175g0000 a0001c0001t0177g0000 a0001c0001t0178g0000 a0001c0001t0179g0000 a0001c0001t0180g0000 a0001c0001t0182g0000 a0001c0001t0184g0000 a0001c0001t0185g0000 a0001c0001t0187g0000 a0001c0001t0189g0000 a0001c0001t0191g0000 a0001c0001t0194g0000 a0001c0001t0195g0000 a0001c0001t0196g0000 a0001c0001t0201g0000 a0001c0003t0064g0000 a0001c0004t0176g0000	243	434	0.5599	23	c.11 others(36): Show c.11760_*11761insGGAGGAGCTGGGGAGGCCGGGGT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4423		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706341	G G	GGGAGGCC others(16): Show GGGAGGCCAGGGTGGAGGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0000 a0001c0001t0012g0000	1	434	0.0023	23	c.12 others(36): Show c.12294_*12295insGGAGGCCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4957		chr2	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0119 a0001c0001t0117 a0001c0001t0119	a0001c0001t0117g0083 a0001c0001t0119g0020 a0001c0001t0117g0083 a0001c0001t0119g0020	2	212	0.0094	23	c.116 others(42): Show c.1165-2302_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603432	A A	AATATATA others(16): Show AATATATATATAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0019	1	212	0.0047	23	c.116 others(40): Show c.1164+932_1164+954dupATATATATATTTTATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603447	T T	TATATATA others(16): Show TATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	212	0.0047	23	c.116 others(40): Show c.1164+939_1164+940insTTTATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 NA21309.hp2 HG03471.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0079 a0001c0001t0001 a0001c0001t0079	a0001c0001t0001g0092 a0001c0001t0001g0155 a0001c0001t0079g0197 a0001c0001t0001g0092 a0001c0001t0001g0155 a0001c0001t0079g0197	3	212	0.0142	23	c.811 others(40): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX8_chr16_976770_991979	981652	G G	GCGGGGGC others(16): Show GCGGGGGCGGCCGGGCTCCGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0010 a0001c0002t0038g0010	1	434	0.0023	23	c.-27 others(32): Show c.-271_-270insCGGGGGCGGCCGGGCTCCGCCTC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		117		chr16	TogoVar
SP2_chr17_47891236_47933957	47927300	A A	AAGGTGGG others(16): Show AAGGTGGGCGGATCACTTGAGGTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	366	0.0027	23	c.174 others(40): Show c.1742-420_1742-398dupTGGGCGGATCACTTGAGGTCAGG	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18953.hp2 HG02698.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0006g0115 a0001c0001t0006g0118	2	356	0.0056	23	c.163 others(44): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP7_chr12_53321575_53341354	53333727	G G	GCTTCCCT others(16): Show GCTTCCCTCTCTGAACCCCACGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0009 a0003c0006 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0004t0001 a0002c0009t0001 a0003c0006t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0006g0047 a0001c0001t0007g0048 a0001c0001t0008g0049 a0001c0001t0010g0077 a0001c0001t0014g0117 a0001c0001t0015g0091 a0001c0001t0016g0124 a0001c0002t0001g0020 a0001c0002t0005g0036 a0001c0002t0009g0056 a0001c0004t0001g0097 a0002c0009t0001g0107 a0003c0006t0001g0106 a0004c0007t0001g0110 a0005c0008t0001g0098	304	370	0.8216	23	c.21+ others(38): Show c.21+1898_21+1899insAACGTGGGGTTCAGAGAGGGAAG	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SPACA4_chr19_48601742_48612714	48602614	G G	GGAGCCTT others(16): Show GGAGCCTTCCTTGCCTGGGACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	23	c.-43 others(34): Show c.-4365_-4364insGAGCCTTCCTTGCCTGGGACGGA	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4127		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135184	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	23	c.26 others(34): Show c.2655_*2656insAAAAAAAAAAAAAAAAAAAAAAA	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2565		chrX	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02083.hp1 HG01978.hp2 HG02083.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0088 a0005c0004t0001g0011 a0001c0001t0001g0088 a0005c0004t0001g0011	2	131	0.0153	23	c.23 others(34): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	205	0.0049	23	c.23 others(34): Show c.2388_*2410dupTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18968.hp1 HG03239.hp2 NA18968.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0048 a0003c0003t0001g0047 a0001c0001t0001g0048 a0003c0003t0001g0047	2	86	0.0233	23	c.107 others(46): Show c.1070+152737_1070+152759dupAAAAAAAAAAAAAAAAAAAAAA A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01255.hp1 others(25): Show HG00099.hp1 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp1 HG02647.hp2 HG02886.hp2 HG02897.hp1 HG03225.hp1 HG03491.hp1 HG03834.hp2 HG04199.hp1 NA18951.hp2 NA18954.hp2 NA18962.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0008 a0002c0001 a0002c0005 others(2): Show a0001c0008 a0002c0001 a0002c0005 a0003c0004 a0004c0006	a0001c0008t0002 a0001c0008t0008 a0002c0001t0001 others(3): Show a0001c0008t0002 a0001c0008t0008 a0002c0001t0001 a0002c0005t0002 a0003c0004t0001 a0004c0006t0001	a0001c0008t0002g0004 a0001c0008t0002g0090 a0001c0008t0002g0091 others(24): Show a0001c0008t0002g0004 a0001c0008t0002g0090 a0001c0008t0002g0091 a0001c0008t0002g0243 a0001c0008t0002g0244 a0001c0008t0002g0245 a0001c0008t0008g0246 a0002c0001t0001g0221 a0002c0005t0002g0220 a0002c0005t0002g0242 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0082 a0004c0006t0001g0033 a0004c0006t0001g0034 a0004c0006t0001g0035 a0004c0006t0001g0036 a0004c0006t0001g0037 a0004c0006t0001g0038 a0004c0006t0001g0039	28	366	0.0765	23	c.300 others(40): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	320	0.0031	23	c.-58 others(32): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	23	c.-18 others(34): Show c.-1805_-1804insATATATTTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02896.hp2 NA18978.hp2 HG00140.hp1 HG02896.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0008t0001g0131 a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0008t0001g0131	3	330	0.0091	23	c.-18 others(34): Show c.-1805_-1804insATATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18970.hp2 NA18966.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0014 a0001c0001t0001g0019	2	330	0.0061	23	c.-18 others(34): Show c.-1805_-1804insATATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	330	0.0030	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	330	0.0030	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	330	0.0030	23	c.-18 others(34): Show c.-1805_-1804insATATATATATATATATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	330	0.0030	23	c.-18 others(34): Show c.-1820_-1819insATATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037689	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	292	0.0034	23	c.741 others(40): Show c.741+3811_741+3812insTATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02698.hp2 HG04115.hp1 HG00558.hp1 HG02698.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0005t0004g0243 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0005t0004g0243	3	292	0.0103	23	c.741 others(40): Show c.741+3809_741+3810insTATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053854	A A	AAGTATAT others(16): Show AAGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0289 a0001c0001t0009g0289	1	292	0.0034	23	c.495 others(40): Show c.495+2557_495+2558insATATATATATATATATATATACT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar

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