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
SNX29_chr16_11971734_12579287	12476384	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18942.hp2 HG01175.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0008 a0002c0005t0039 a0001c0001t0008 a0002c0005t0039	a0001c0001t0008g0137 a0002c0005t0039g0013 a0001c0001t0008g0137 a0002c0005t0039g0013	2	176	0.0114	-19	c.203 others(38): Show c.2038-1334_2038-1316delTATATATATATATATATAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20			chr16	TogoVar
SNX29_chr16_11971734_12579287	12512399	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0155 a0001c0001t0047g0155	1	176	0.0057	-19	c.217 others(40): Show c.2179-12302_2179-12284delATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20			chr16	TogoVar
SNX29_chr16_11971734_12579287	12575859	TTTTGTTT others(12): Show TTTTGTTTTTATTTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG02451.hp2 others(5): Show HG00741.hp1 HG01074.hp2 HG02451.hp2 HG02630.hp2 HG02896.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0087 a0001c0002t0088 a0001c0002t0109 others(5): Show a0001c0002t0087 a0001c0002t0088 a0001c0002t0109 a0001c0004t0020 a0001c0004t0079 a0001c0004t0080 a0001c0004t0083 a0001c0006t0078	a0001c0002t0087g0147 a0001c0002t0088g0018 a0001c0002t0109g0036 others(5): Show a0001c0002t0087g0147 a0001c0002t0088g0018 a0001c0002t0109g0036 a0001c0004t0020g0038 a0001c0004t0079g0070 a0001c0004t0080g0054 a0001c0004t0083g0068 a0001c0006t0078g0027	8	176	0.0455	-19	c.72 others(30): Show c.7231_*7249delTTTGTTTTTATTTTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1573		chr16	TogoVar
SNX4_chr3_125441650_125525202	125506817	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	360	0.0028	-19	c.142 others(36): Show c.142-2092_142-2074delTTTTTTTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	1/13			chr3	TogoVar
SNX6_chr14_34556093_34635148	34559008	CACACACA others(12): Show CACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0272 a0001c0001t0020g0272	1	322	0.0031	-19	c.40 others(30): Show c.4095_*4113delTGTGTGTGTGTGTGTGTGT	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		2084		chr14	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18955.hp2 HG03209.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0035 a0001c0005t0001 a0001c0001t0035 a0001c0005t0001	a0001c0001t0035g0152 a0001c0005t0001g0154 a0001c0001t0035g0152 a0001c0005t0001g0154	2	370	0.0054	-19	c.-28 others(30): Show c.-2849_-2831delAAAAAAAAAAAAAAAAAAA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2811		chr7	TogoVar
SOAT1_chr1_179288797_179363680	179344352	GGTTTTTT others(12): Show GGTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	382	0.0026	-19	c.988 others(34): Show c.988-594_988-576delGTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	10/15			chr1	TogoVar
SOCS5_chr2_46694295_46768129	46756482	AGATTTGG others(12): Show AGATTTGGCCTTCAGGCTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0128	1	380	0.0026	-19	c.-12 others(36): Show c.-12-2035_-12-2017delATTTGGCCTTCAGGCTTTG	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS6_chr18_70284045_70335199	70329878	GAAAAATT others(12): Show GAAAAATTCTTATAGAATTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0235 a0001c0001t0025g0235	1	358	0.0028	-19	c.36 others(30): Show c.3603_*3621delAAAAATTCTTATAGAATTT	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	2/2	3603		chr18	TogoVar
SOHLH1_chr9_135688407_135704481	135691691	TGGACACA others(12): Show TGGACACACACCAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	418	0.0024	-19	c.18 others(30): Show c.1887_*1905delCATGTGTTGGTGTGTGTCC	SOHLH1	ENSG00000165643.11	transcript	ENST00000425225.2	protein_coding		1715		chr9	TogoVar
SON_chr21_33538038_33582481	33577672	CACACACA others(12): Show CACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	364	0.0028	-19	c.12 others(30): Show c.1249_*1267delACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		192		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185806434	CTATTTTT others(12): Show CTATTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01099.hp2 others(19): Show HG00642.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0001c0027 a0001c0031 a0001c0038 a0002c0024	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(16): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0060 a0001c0003t0001 a0001c0004t0017 a0001c0006t0012 a0001c0008t0067 a0001c0009t0001 a0001c0009t0004 a0001c0009t0007 a0001c0015t0004 a0001c0015t0007 a0001c0027t0010 a0001c0031t0016 a0001c0038t0025 a0002c0024t0007	a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0011g0307 others(19): Show a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0011g0307 a0001c0001t0012g0081 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0015g0080 a0001c0001t0016g0288 a0001c0001t0060g0284 a0001c0003t0001g0301 a0001c0004t0017g0098 a0001c0006t0012g0286 a0001c0008t0067g0289 a0001c0009t0001g0221 a0001c0009t0004g0287 a0001c0009t0007g0291 a0001c0015t0004g0082 a0001c0015t0007g0285 a0001c0027t0010g0045 a0001c0031t0016g0290 a0001c0038t0025g0022 a0002c0024t0007g0073	22	312	0.0705	-19	c.-23 others(38): Show c.-237+5211_-237+5229delAAAAAAAAAAAAAAAAATA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185816586	TATGATTC others(12): Show TATGATTCCAACCCCAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0056 a0002c0012t0056	a0002c0012t0056g0044 a0002c0012t0056g0044	1	312	0.0032	-19	c.-51 others(30): Show c.-5178_-5160delTTCTTGGGGTTGGAATCAT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding		4393		chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403981	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0015 a0004c0007t0015	a0004c0007t0015g0166 a0004c0007t0015g0166	1	168	0.0060	-19	c.548 others(36): Show c.548+7628_548+7646delATATATATATATATATTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7405401	ATTTTGGT others(12): Show ATTTTGGTAGGAATTACATT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp1 others(13): Show HG01106.hp2 HG01192.hp1 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0017	a0001c0002 a0001c0005 a0001c0006 others(11): Show a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0026 a0001c0034 a0001c0036 a0001c0051 a0002c0004 a0003c0046 a0004c0007 a0005c0008 a0017c0054	a0001c0002t0035 a0001c0002t0067 a0001c0005t0023 others(12): Show a0001c0002t0035 a0001c0002t0067 a0001c0005t0023 a0001c0006t0002 a0001c0010t0027 a0001c0011t0017 a0001c0026t0062 a0001c0034t0009 a0001c0036t0044 a0001c0051t0001 a0002c0004t0024 a0003c0046t0001 a0004c0007t0001 a0005c0008t0001 a0017c0054t0022	a0001c0002t0035g0090 a0001c0002t0067g0115 a0001c0005t0023g0032 others(13): Show a0001c0002t0035g0090 a0001c0002t0067g0115 a0001c0005t0023g0032 a0001c0006t0002g0118 a0001c0010t0027g0105 a0001c0011t0017g0120 a0001c0026t0062g0049 a0001c0034t0009g0093 a0001c0036t0044g0022 a0001c0051t0001g0068 a0002c0004t0024g0057 a0002c0004t0024g0114 a0003c0046t0001g0164 a0004c0007t0001g0026 a0005c0008t0001g0006 a0017c0054t0022g0113	16	168	0.0952	-19	c.548 others(36): Show c.548+9047_548+9065delTTTTGGTAGGAATTACATT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448960	CCTTCCTG others(12): Show CCTTCCTGTCTTTTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02572.hp1 HG01884.hp1 HG01891.hp1 HG02572.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0015 a0003c0042 a0001c0001 a0001c0015 a0003c0042	a0001c0001t0020 a0001c0015t0011 a0003c0042t0003 a0001c0001t0020 a0001c0015t0011 a0003c0042t0003	a0001c0001t0020g0052 a0001c0015t0011g0002 a0003c0042t0003g0066 a0001c0001t0020g0052 a0001c0015t0011g0002 a0003c0042t0003g0066	3	168	0.0179	-19	c.548 others(38): Show c.548+52608_548+52626delTCCTGTCTTTTCCCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7453975	TTGGGGTC others(12): Show TTGGGGTCAGGTGCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0165 a0001c0006t0005g0165	1	168	0.0060	-19	c.548 others(38): Show c.548+57622_548+57640delGGGGTCAGGTGCTGTGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7525996	GCAGTCAC others(12): Show GCAGTCACCTGTCCCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01243.hp2 others(19): Show HG00639.hp1 HG01106.hp2 HG01243.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0016	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0001c0036 a0001c0041 a0001c0048 a0003c0013 a0003c0042 a0004c0007 a0004c0043 a0004c0044 a0010c0040 a0016c0019	a0001c0001t0004 a0001c0003t0015 a0001c0003t0022 others(19): Show a0001c0001t0004 a0001c0003t0015 a0001c0003t0022 a0001c0003t0052 a0001c0005t0001 a0001c0005t0007 a0001c0005t0019 a0001c0005t0023 a0001c0011t0017 a0001c0014t0019 a0001c0014t0034 a0001c0036t0044 a0001c0041t0013 a0001c0048t0001 a0003c0013t0021 a0003c0013t0033 a0003c0042t0003 a0004c0007t0015 a0004c0043t0037 a0004c0044t0046 a0010c0040t0004 a0016c0019t0018	a0001c0001t0004g0097 a0001c0003t0015g0034 a0001c0003t0022g0043 others(19): Show a0001c0001t0004g0097 a0001c0003t0015g0034 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0005t0001g0156 a0001c0005t0007g0154 a0001c0005t0019g0104 a0001c0005t0023g0032 a0001c0011t0017g0120 a0001c0014t0019g0139 a0001c0014t0034g0040 a0001c0036t0044g0022 a0001c0041t0013g0031 a0001c0048t0001g0146 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0042t0003g0066 a0004c0007t0015g0166 a0004c0043t0037g0058 a0004c0044t0046g0016 a0010c0040t0004g0024 a0016c0019t0018g0027	22	168	0.1310	-19	c.549 others(36): Show c.549-5512_549-5494delGTCACCTGTCCCCTCCTCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7620019	TTCCTCCT others(12): Show TTCCTCCTCCTCCTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0018 a0016c0019t0018	a0016c0019t0018g0027 a0016c0019t0018g0027	1	168	0.0060	-19	c.649 others(38): Show c.649-18295_649-18277delCCTTCCTCCTCCTCCTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104940224	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG03139.hp1 others(3): Show HG01884.hp2 HG02970.hp2 HG03139.hp1 HG06807.hp2 NA18906.hp1 NA19004.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0008 a0005c0007 a0001c0001 a0003c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0005c0007t0001	a0001c0001t0001g0122 a0001c0001t0002g0063 a0001c0001t0002g0123 others(3): Show a0001c0001t0001g0122 a0001c0001t0002g0063 a0001c0001t0002g0123 a0003c0008t0001g0126 a0005c0007t0001g0061 a0005c0007t0001g0062	6	134	0.0448	-19	c.795 others(38): Show c.795+24294_795+24312delATATATATATATATTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940226	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02895.hp1 others(3): Show HG01099.hp1 HG01981.hp2 HG02895.hp1 HG02970.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0002g0014 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0002g0014 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0004g0045	6	134	0.0448	-19	c.795 others(38): Show c.795+24296_795+24314delATATATATATATTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940228	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0038 a0001c0001t0004g0039	2	134	0.0149	-19	c.795 others(38): Show c.795+24298_795+24316delATATATATATTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105022832	GTTAAAAC others(12): Show GTTAAAACAGGACTTGAGTT	G G	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0004 a0010c0016t0004	a0010c0016t0004g0059 a0010c0016t0004g0059	1	134	0.0075	-19	c.955 others(38): Show c.955-20194_955-20176delGACTTGAGTTTTAAAACAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121510198	GTTAAGTA others(12): Show GTTAAGTAATACAACAGCAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0174 a0001c0046t0002g0174	1	272	0.0037	-19	c.940 others(36): Show c.940-2801_940-2783delAGTAATACAACAGCATTTA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109387503	TAAATTTT others(12): Show TAAATTTTGTTTAAAATTTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG02723.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0188 a0001c0003t0015g0189 a0001c0003t0015g0188 a0001c0003t0015g0189	2	240	0.0083	-19	c.306 others(38): Show c.306+10065_306+10083delTAAATTTTAAACAAAATTT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50192143	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(192): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0005c0012 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0012 a0005c0012t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0122 others(191): Show a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0179 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0306 a0001c0001t0006g0199 a0001c0001t0006g0222 a0001c0001t0008g0229 a0001c0002t0001g0125 a0001c0002t0001g0158 a0001c0002t0001g0278 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0009t0001g0155 a0001c0011t0001g0344 a0001c0013t0012g0380 a0005c0012t0001g0296 a0007c0008t0001g0255	195	382	0.5105	-19	c.511 others(36): Show c.511-3462_511-3444delTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHB_chr4_76889152_76903144	76900865	AACAAAAA others(12): Show AACAAAAAAAAAAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0004 a0007c0007t0011 a0003c0003t0004 a0007c0007t0011	a0003c0003t0004g0000 a0007c0007t0011g0000 a0003c0003t0004g0000 a0007c0007t0011g0000	2	438	0.0046	-19	c.-30 others(30): Show c.-3035_-3017delGTTTGTTTTTTTTTTTTGT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2722		chr4	TogoVar
SOX5_chr12_23524504_23954670	23570919	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	212	0.0047	-19	c.134 others(38): Show c.1342+4723_1342+4741delATATATATTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570921	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	212	0.0047	-19	c.134 others(38): Show c.1342+4721_1342+4739delATATATATATTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19063.hp1 HG01981.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0002t0005 a0001c0001t0066 a0001c0002t0005	a0001c0001t0066g0048 a0001c0002t0005g0013 a0001c0001t0066g0048 a0001c0002t0005g0013	2	212	0.0094	-19	c.134 others(38): Show c.1342+4717_1342+4735delATATATATATATATTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570927	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0088 a0001c0001t0016g0088	1	212	0.0047	-19	c.134 others(38): Show c.1342+4715_1342+4733delATATATATATATATATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570929	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0181 a0001c0001t0020g0181	1	212	0.0047	-19	c.134 others(38): Show c.1342+4713_1342+4731delATATATATATATATATATT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG01261.hp2 others(7): Show HG00735.hp1 HG01258.hp1 HG01261.hp2 HG02451.hp1 HG02486.hp2 HG02683.hp2 HG03239.hp1 HG03942.hp1 HG04184.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0038 a0001c0001t0059 a0001c0001t0073 a0001c0001t0076 a0001c0001t0087	a0001c0001t0002g0006 a0001c0001t0002g0200 a0001c0001t0021g0139 others(7): Show a0001c0001t0002g0006 a0001c0001t0002g0200 a0001c0001t0021g0139 a0001c0001t0022g0176 a0001c0001t0026g0127 a0001c0001t0038g0168 a0001c0001t0059g0160 a0001c0001t0073g0189 a0001c0001t0076g0163 a0001c0001t0087g0188	10	212	0.0472	-19	c.482 others(38): Show c.482-36917_482-36899delTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16175368	TCTTTAGG others(12): Show TCTTTAGGAATTAGGAAATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01943.hp1 others(4): Show HG01099.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02300.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0137 a0001c0001t0004g0173 others(4): Show a0001c0001t0004g0127 a0001c0001t0004g0137 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0202	7	218	0.0321	-19	c.777 others(36): Show c.777+8499_777+8517delTATTTCCTAATTCCTAAAG	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349696	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp2 NA18979.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0040 a0001c0002t0006 a0001c0002t0040	a0001c0002t0006g0136 a0001c0002t0040g0135 a0001c0002t0006g0136 a0001c0002t0040g0135	2	218	0.0092	-19	c.-5+ others(34): Show c.-5+6379_-5+6397delTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01099.hp2 others(27): Show HG00558.hp2 HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02132.hp2 HG02148.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03239.hp2 HG04184.hp2 NA18939.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA19054.hp1 NA19080.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0003c0004	a0001c0001t0002 a0001c0001t0021 a0001c0003t0010 others(7): Show a0001c0001t0002 a0001c0001t0021 a0001c0003t0010 a0002c0002t0001 a0002c0002t0009 a0002c0005t0001 a0002c0005t0005 a0002c0020t0023 a0002c0021t0001 a0003c0004t0002	a0001c0001t0002g0104 a0001c0001t0002g0183 a0001c0001t0002g0253 others(26): Show a0001c0001t0002g0104 a0001c0001t0002g0183 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0021g0287 a0001c0003t0010g0019 a0002c0002t0001g0014 a0002c0002t0001g0027 a0002c0002t0001g0077 a0002c0002t0001g0130 a0002c0002t0001g0146 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0222 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0242 a0002c0002t0009g0001 a0002c0002t0009g0207 a0002c0002t0009g0215 a0002c0005t0001g0082 a0002c0005t0005g0023 a0002c0005t0005g0198 a0002c0020t0023g0035 a0002c0021t0001g0100 a0003c0004t0002g0263	30	290	0.1035	-19	c.205 others(36): Show c.2053-611_2053-593delTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG03041.hp1 HG03654.hp2 HG01517.hp1 HG03041.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	416	0.0072	-19	c.-40 others(30): Show c.-4062_-4044delTTTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790865	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	416	0.0024	-19	c.-40 others(30): Show c.-4086_-4068delCTCTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3980		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602703	AAATATAT others(12): Show AAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	-19	c.-42 others(30): Show c.-4275_-4257delAATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4038		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(12): Show ATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG02965.hp2 HG01517.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	392	0.0051	-19	c.-42 others(30): Show c.-4273_-4255delTATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4036		chr19	TogoVar
SPAG16_chr2_213279464_214415501	213342331	ATATATAT others(12): Show ATATATATATTACATATATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	86	0.0116	-19	c.644 others(36): Show c.644+2071_644+2089delTACATATATGTATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213492172	TACTACCA others(12): Show TACTACCAGTCCTTAACTAG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02717.hp2 others(8): Show HG02293.hp1 HG02559.hp1 HG02717.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0001 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0005c0005t0001g0005	11	86	0.1279	-19	c.107 others(38): Show c.1070+2085_1070+2103delTACCAGTCCTTAACTAGAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213593746	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp1 HG03239.hp1 HG02886.hp2 HG03209.hp1 HG03239.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0013 a0005c0005t0001g0017 a0005c0005t0001g0081 a0001c0001t0001g0013 a0005c0005t0001g0017 a0005c0005t0001g0081	3	86	0.0349	-19	c.107 others(42): Show c.1070+103684_1070+103702delTTTTTTTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643392	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	-19	c.107 others(42): Show c.1070+153304_1070+153322delATATATATATATATATATT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213728876	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01891.hp1 others(11): Show HG01256.hp2 HG01361.hp2 HG01891.hp1 HG02559.hp2 HG02615.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18977.hp2 NA19087.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0009c0009t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 others(11): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0006 a0001c0001t0002g0067 a0002c0002t0001g0010 a0002c0002t0002g0073 a0002c0002t0002g0074 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0009c0009t0001g0085	14	86	0.1628	-19	c.107 others(42): Show c.1071-133582_1071-133564delAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213743102	ACTGTGTT others(12): Show ACTGTGTTAGCGAGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG01891.hp2 others(3): Show HG00735.hp2 HG01496.hp1 HG01891.hp2 HG03831.hp1 HG03831.hp2 NA18993.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0030 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0050	6	86	0.0698	-19	c.107 others(42): Show c.1071-119380_1071-119362delGTGTTAGCGAGGATGGTCT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859198	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG06807.hp2 HG02615.hp2 HG02895.hp1 HG06807.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0002c0002t0002 a0008c0010t0001 a0002c0002t0001 a0002c0002t0002 a0008c0010t0001	a0002c0002t0001g0051 a0002c0002t0002g0052 a0008c0010t0001g0004 a0002c0002t0001g0051 a0002c0002t0002g0052 a0008c0010t0001g0004	3	86	0.0349	-19	c.107 others(38): Show c.1071-3286_1071-3268delAAAAAAAAAAAAAAAAAAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	86	0.0116	-19	c.172 others(42): Show c.1720+111869_1720+111887delAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118126878	AGAGGTCT others(12): Show AGAGGTCTACTTTCATTCTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(52): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18963.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19005.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA20300.hp2	a0002 a0007 a0015 others(2): Show a0002 a0007 a0015 a0016 a0017	a0002c0002 a0002c0008 a0007c0017 others(4): Show a0002c0002 a0002c0008 a0007c0017 a0007c0033 a0015c0022 a0016c0023 a0017c0034	a0002c0002t0001 a0002c0008t0001 a0007c0017t0001 others(4): Show a0002c0002t0001 a0002c0008t0001 a0007c0017t0001 a0007c0033t0001 a0015c0022t0001 a0016c0023t0001 a0017c0034t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 others(51): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0069 a0002c0002t0001g0263 a0002c0008t0001g0046 a0002c0008t0001g0048 a0002c0008t0001g0049 a0007c0017t0001g0015 a0007c0017t0001g0016 a0007c0033t0001g0014 a0015c0022t0001g0038 a0016c0023t0001g0068 a0017c0034t0001g0053	55	266	0.2068	-19	c.316 others(38): Show c.316-11456_316-11438delAAGAATGAAAGTAGACCTC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	3/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100206017	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02155.hp2 others(5): Show HG00673.hp2 HG02027.hp1 HG02155.hp2 NA18961.hp1 NA18984.hp1 NA19007.hp1 NA19076.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0001 a0001c0009 a0002c0001	a0001c0009t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0009t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006	a0001c0009t0001g0329 a0002c0001t0001g0320 a0002c0001t0001g0324 others(5): Show a0001c0009t0001g0329 a0002c0001t0001g0320 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0002g0341 a0002c0001t0006g0097	8	366	0.0219	-19	c.109 others(38): Show c.1097-7053_1097-7035delAAAAAAAAAAAAAAAAAAA	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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