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
SCYGR8_chr2_227740894_227751220	227741434	AACACATC others(17): Show AACACATCAACTGTGTAATATTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	1	457	0.0022	-24	c.-44 others(35): Show c.-4459_-4436delACACATCAACTGTGTAATATTTCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		4459		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100320549	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp1 HG02486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0058 a0001c0001t0007g0059	2	220	0.0091	-24	c.139 others(43): Show c.1395+2648_1395+2671delTAAATAAATAAATAAATAAATAAA	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDC2_chr8_96488813_96616790	96508296	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0002g0309 a0002c0002t0001g0002 a0002c0002t0002g0309	2	334	0.0060	-24	c.60+ others(41): Show c.60+13990_60+14013delAATAATAATAATAATAATAATAAT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	3299226	CTTTATTT others(17): Show CTTTATTTATTTATTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01516.hp2 others(21): Show HG01167.hp2 HG01243.hp2 HG01516.hp2 HG01978.hp1 HG02451.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0017 a0018 a0019 a0021 a0027 a0030 a0032	a0001c0004 a0001c0005 a0001c0010 others(19): Show a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0031 a0001c0038 a0001c0040 a0001c0048 a0001c0071 a0001c0072 a0002c0013 a0003c0001 a0004c0057 a0006c0006 a0006c0044 a0017c0024 a0018c0028 a0019c0051 a0021c0045 a0027c0068 a0030c0073 a0032c0075	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(21): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0010t0060 a0001c0011t0008 a0001c0031t0001 a0001c0038t0013 a0001c0040t0001 a0001c0048t0001 a0001c0071t0057 a0001c0072t0065 a0002c0013t0064 a0003c0001t0003 a0003c0001t0059 a0004c0057t0013 a0006c0006t0001 a0006c0044t0001 a0017c0024t0061 a0018c0028t0049 a0019c0051t0062 a0021c0045t0015 a0027c0068t0014 a0030c0073t0001 a0032c0075t0008	a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 others(21): Show a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0031t0001g0018 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0048t0001g0029 a0001c0071t0057g0031 a0001c0072t0065g0027 a0002c0013t0064g0026 a0003c0001t0003g0037 a0003c0001t0059g0024 a0004c0057t0013g0045 a0006c0006t0001g0036 a0006c0044t0001g0020 a0017c0024t0061g0013 a0018c0028t0049g0035 a0019c0051t0062g0019 a0021c0045t0015g0046 a0027c0068t0014g0014 a0030c0073t0001g0015 a0032c0075t0008g0016	24	116	0.2069	-24	c.-23 others(35): Show c.-2360_-2337delTTTATTTATTTATTTATTTATTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		2025		chr7	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02886.hp2 others(2): Show HG02145.hp2 HG02615.hp2 HG02886.hp2 HG03139.hp1 HG03516.hp1	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0067 a0001c0092 a0002c0012 others(1): Show a0001c0067 a0001c0092 a0002c0012 a0020c0089	a0001c0067t0068 a0001c0092t0048 a0002c0012t0016 others(1): Show a0001c0067t0068 a0001c0092t0048 a0002c0012t0016 a0020c0089t0047	a0001c0067t0068g0001 a0001c0092t0048g0057 a0002c0012t0016g0002 others(2): Show a0001c0067t0068g0001 a0001c0092t0048g0057 a0002c0012t0016g0002 a0002c0012t0016g0003 a0020c0089t0047g0056	5	116	0.0431	-24	c.298 others(45): Show c.298+101962_298+101985delTATATATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp1 HG02723.hp2 others(3): Show HG01167.hp2 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG03491.hp1 NA19043.hp1	a0001 a0018 a0001 a0018	a0001c0004 a0001c0005 a0001c0038 others(2): Show a0001c0004 a0001c0005 a0001c0038 a0001c0059 a0018c0028	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(3): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0038t0013 a0001c0059t0027 a0018c0028t0049	a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 others(3): Show a0001c0004t0001g0039 a0001c0005t0001g0023 a0001c0005t0051g0030 a0001c0038t0013g0038 a0001c0059t0027g0090 a0018c0028t0049g0035	6	116	0.0517	-24	c.713 others(43): Show c.713+13376_713+13399delATATATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3718521	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG01978.hp2 others(10): Show HG01175.hp2 HG01891.hp2 HG01978.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0028 a0034 a0035	a0001c0017 a0001c0048 a0001c0049 others(9): Show a0001c0017 a0001c0048 a0001c0049 a0001c0071 a0001c0087 a0002c0013 a0002c0042 a0003c0033 a0004c0065 a0028c0052 a0034c0081 a0035c0018	a0001c0017t0011 a0001c0048t0001 a0001c0049t0036 others(9): Show a0001c0017t0011 a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 a0001c0087t0009 a0002c0013t0015 a0002c0042t0002 a0003c0033t0002 a0004c0065t0037 a0028c0052t0032 a0034c0081t0008 a0035c0018t0071	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0048t0001g0029 others(10): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 a0001c0087t0009g0054 a0002c0013t0015g0025 a0002c0042t0002g0105 a0003c0033t0002g0103 a0004c0065t0037g0065 a0028c0052t0032g0107 a0034c0081t0008g0075 a0035c0018t0071g0005	13	116	0.1121	-24	c.713 others(43): Show c.713+76461_713+76484delAATAAATAAATAAATAAATAAATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	-24	c.242 others(41): Show c.2420+334_2420+357delTTTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73405467	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18948.hp2 NA18990.hp2 HG00558.hp2 NA18948.hp2 NA18990.hp2	a0006 a0009 a0006 a0009	a0006c0056 a0006c0097 a0009c0113 a0006c0056 a0006c0097 a0009c0113	a0006c0056t0002 a0006c0097t0070 a0009c0113t0064 a0006c0056t0002 a0006c0097t0070 a0009c0113t0064	a0006c0056t0002g0162 a0006c0097t0070g0048 a0009c0113t0064g0023 a0006c0056t0002g0162 a0006c0097t0070g0048 a0009c0113t0064g0023	3	204	0.0147	-24	c.248 others(43): Show c.2485-3350_2485-3327delATATATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73457222	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG02145.hp2 others(11): Show HG00639.hp1 HG01099.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA19240.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0027	a0001c0002 a0001c0010 a0001c0025 others(9): Show a0001c0002 a0001c0010 a0001c0025 a0001c0073 a0002c0059 a0004c0011 a0005c0012 a0005c0037 a0005c0038 a0007c0019 a0007c0083 a0027c0076	a0001c0002t0041 a0001c0010t0001 a0001c0025t0016 others(11): Show a0001c0002t0041 a0001c0010t0001 a0001c0025t0016 a0001c0073t0038 a0002c0059t0063 a0004c0011t0010 a0005c0012t0074 a0005c0012t0081 a0005c0037t0057 a0005c0038t0007 a0007c0019t0027 a0007c0019t0075 a0007c0083t0076 a0027c0076t0034	a0001c0002t0041g0022 a0001c0010t0001g0036 a0001c0025t0016g0055 others(11): Show a0001c0002t0041g0022 a0001c0010t0001g0036 a0001c0025t0016g0055 a0001c0073t0038g0079 a0002c0059t0063g0144 a0004c0011t0010g0176 a0005c0012t0074g0185 a0005c0012t0081g0178 a0005c0037t0057g0147 a0005c0038t0007g0052 a0007c0019t0027g0004 a0007c0019t0075g0017 a0007c0083t0076g0037 a0027c0076t0034g0020	14	204	0.0686	-24	c.332 others(41): Show c.332-1193_332-1170delGAAGGAAGGAAGGAAGGAAGGAAG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73490525	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTGAGATGGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0026 a0026	a0026c0114 a0026c0114	a0026c0114t0094 a0026c0114t0094	a0026c0114t0094g0179 a0026c0114t0094g0179	1	204	0.0049	-24	c.224 others(43): Show c.224+16889_224+16912delCCCATCTCAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56324770	ATTTGTTC others(17): Show ATTTGTTCAATGACAGGAAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	-24	c.-47 others(35): Show c.-4750_-4727delGCTCTCTTCCTGTCATTGAACAAA	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding		4596		chr8	TogoVar
SDR42E2_chr16_22157506_22196751	22165904	AGGTCCGT others(17): Show AGGTCCGTACCTGGGCCAGGAGCTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01516.hp2 HG01099.hp1 HG01109.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0037 a0002c0002t0001g0198 a0002c0002t0001g0199	3	356	0.0084	-24	c.56- others(37): Show c.56-293_56-270delCGTACCTGGGCCAGGAGCTGGGTC	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDR42E2_chr16_22157506_22196751	22166065	TGTACCTG others(17): Show TGTACCTGGGCCGGGAGCTGGATCG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0017 a0002c0009t0017	a0002c0009t0017g0268 a0002c0009t0017g0268	1	356	0.0028	-24	c.56- others(37): Show c.56-137_56-114delGGTACCTGGGCCGGGAGCTGGATC	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDSL_chr12_113417380_113443276	113432209	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01517.hp1 others(15): Show HG01106.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02257.hp1 HG02300.hp2 HG02572.hp1 HG02735.hp1 HG02922.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA19011.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0003t0001g0109 a0002c0002t0001g0005	18	298	0.0604	-24	c.355 others(41): Show c.355-1864_355-1841delTTCTTTCTTTCTTTCTTTCTTTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(44): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02273.hp2 HG02486.hp2 HG02602.hp1 HG03491.hp2 HG03654.hp1 HG04204.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18985.hp1 NA18991.hp1 NA18994.hp2 NA19009.hp2 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0004g0012 a0001c0001t0004g0013	47	320	0.1469	-24	c.52- others(39): Show c.52-8973_52-8950delTTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC13_chr3_10295931_10326112	10321693	AATCTATC others(17): Show AATCTATCTATCTATCTATCTATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	380	0.0026	-24	c.-66 others(33): Show c.-665_-642delAGATAGATAGATAGATAGATAGAT	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding		582		chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77145077	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTATGTATG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02129.hp2 HG02132.hp2 others(1): Show HG01928.hp1 HG02129.hp2 HG02132.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0054 a0001c0002t0004 a0001c0002t0005 a0001c0002t0054	a0001c0002t0004g0299 a0001c0002t0005g0286 a0001c0002t0005g0287 others(1): Show a0001c0002t0004g0299 a0001c0002t0005g0286 a0001c0002t0005g0287 a0001c0002t0054g0375	4	430	0.0093	-24	c.63+ others(39): Show c.63+1436_63+1459delATGTATGTGTGTGTGTGTGTGTGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30465510	TCAAATAA others(17): Show TCAAATAACCAGCCAGCCAACCATC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0145 a0004c0014t0001g0145	1	454	0.0022	-24	c.581 others(39): Show c.581-631_581-608delGATGGTTGGCTGGCTGGTTATTTG	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding	7/11			chr22	TogoVar
SEC16A_chr9_136435105_136488040	136444307	ACAGGCAG others(17): Show ACAGGCAGAAGATGAAGCGTTCGTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03654.hp1 HG02698.hp1 HG03654.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0167 a0001c0005t0001g0168	2	306	0.0065	-24	c.692 others(41): Show c.6928-431_6928-408delAACGAACGCTTCATCTTCTGCCTG	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	30/31			chr9	TogoVar
SEC23A_chr14_39026919_39108235	39094259	TATATGCA others(17): Show TATATGCATATATACACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02258.hp1 others(16): Show HG01243.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0006t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(16): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0335 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0361 a0001c0001t0003g0363 a0001c0001t0005g0118 a0001c0001t0005g0341 a0001c0001t0006g0359 a0001c0001t0006g0360 a0001c0006t0001g0301	19	366	0.0519	-24	c.222 others(41): Show c.222-1039_222-1016delGTGTATATGTGTATATATGCATAT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094420	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0342 a0001c0001t0005g0342	1	366	0.0027	-24	c.222 others(41): Show c.222-1200_222-1177delAATATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094422	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	366	0.0027	-24	c.222 others(41): Show c.222-1202_222-1179delAAAATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094424	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA21309.hp1 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0363 a0001c0001t0005g0118 a0001c0001t0003g0363 a0001c0001t0005g0118	2	366	0.0055	-24	c.222 others(41): Show c.222-1204_222-1181delAAAAAATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0341 a0001c0001t0005g0341	1	366	0.0027	-24	c.222 others(41): Show c.222-1206_222-1183delAAAAAAAATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23IP_chr10_119887730_119949657	119949089	GGGAAGAA others(17): Show GGGAAGAAGGCAGGACAGGGATGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0317 a0001c0003t0004g0317	1	400	0.0025	-24	c.85 others(35): Show c.8525_*8548delGGAAGAAGGCAGGACAGGGATGAT	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding		4433		chr10	TogoVar
SEC24D_chr4_118717823_118841126	118740383	ACCGTTGG others(17): Show ACCGTTGGAAGTCAGTTTGCTGATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02647.hp1 others(1): Show HG00639.hp2 HG02055.hp1 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0274 a0001c0005t0001g0275 a0001c0005t0001g0276 others(1): Show a0001c0005t0001g0274 a0001c0005t0001g0275 a0001c0005t0001g0276 a0001c0005t0001g0277	4	300	0.0133	-24	c.223 others(41): Show c.2238+256_2238+279delCATCAGCAAACTGACTTCCAACGG	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	17/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG02723.hp1 HG03098.hp2 HG03209.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0008c0011 a0001c0001 a0001c0005 a0008c0011	a0001c0001t0001 a0001c0005t0001 a0008c0011t0001 a0001c0001t0001 a0001c0005t0001 a0008c0011t0001	a0001c0001t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0321 others(1): Show a0001c0001t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0321 a0008c0011t0001g0310	4	328	0.0122	-24	c.119 others(41): Show c.1198-962_1198-939delTATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13907700	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0223 a0001c0001t0001g0235	2	324	0.0062	-24	c.549 others(41): Show c.549+6058_549+6081delAAGAAAGAAAGAAAGAAAGAAAGA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25790644	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02148.hp2 HG02273.hp1 others(4): Show HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 NA18961.hp2 NA19060.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0213 a0001c0001t0002g0064 a0001c0001t0002g0066 others(4): Show a0001c0001t0001g0213 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0005g0063 a0003c0004t0001g0202	7	312	0.0224	-24	c.195 others(39): Show c.1957-94_1957-71delCCCTTCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790648	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00673.hp2 others(54): Show HG00140.hp2 HG00609.hp1 HG00673.hp2 HG01261.hp1 HG01891.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03704.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18985.hp1 NA18993.hp1 NA19000.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19082.hp1 NA19086.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0025 a0001c0034 a0002c0002 a0003c0004 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0003t0002 a0001c0003t0009 a0001c0006t0002 a0001c0006t0004 a0001c0025t0001 a0001c0034t0002 a0002c0002t0008 a0003c0004t0001 a0017c0030t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(54): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0293 a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0177 a0001c0001t0002g0196 a0001c0001t0002g0226 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0002g0297 a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0194 a0001c0001t0003g0273 a0001c0001t0005g0209 a0001c0001t0005g0223 a0001c0001t0006g0150 a0001c0001t0021g0306 a0001c0003t0002g0049 a0001c0003t0009g0027 a0001c0006t0002g0154 a0001c0006t0004g0092 a0001c0025t0001g0241 a0001c0034t0002g0137 a0002c0002t0008g0301 a0003c0004t0001g0195 a0017c0030t0001g0045	57	312	0.1827	-24	c.195 others(39): Show c.1957-98_1957-75delCCCTCCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790652	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01169.hp1 HG02071.hp1 others(4): Show HG00733.hp1 HG01169.hp1 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02683.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0054 a0001c0001t0002g0208	7	312	0.0224	-24	c.195 others(40): Show c.1957-102_1957-79delCCCTCCCTCCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEMA3A_chr7_83950777_84199789	83965644	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0051 a0001c0004t0005g0051	1	276	0.0036	-24	c.171 others(43): Show c.1718-2321_1718-2298delAATATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84160223	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA18960.hp1 HG01069.hp2 HG01071.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0009g0061 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0009g0061	3	276	0.0109	-24	c.113 others(43): Show c.113-25296_113-25273delTAGATAGATAGATAGATAGATAGA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84176067	TCTTCCTT others(17): Show TCTTCCTTAAGAACAATTATGTCTA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00735.hp2 others(22): Show HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01515.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 NA18612.hp1 NA18957.hp1 NA18966.hp1 NA18973.hp2 NA18985.hp2 NA19001.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0002t0002 a0001c0003t0005 a0001c0004t0005 a0001c0004t0006 a0002c0009t0021	a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 others(22): Show a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0003g0261 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0017g0263 a0001c0001t0026g0267 a0001c0001t0027g0272 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0003t0005g0252 a0001c0004t0005g0253 a0001c0004t0006g0211 a0002c0009t0021g0265 a0002c0009t0021g0266	25	276	0.0906	-24	c.112 others(43): Show c.112+18384_112+18407delTAGACATAATTGTTCTTAAGGAAG	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750435	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	244	0.0041	-24	c.171 others(41): Show c.1711+810_1711+833delATATATATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85055645	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0251 a0001c0001t0008g0251	1	266	0.0038	-24	c.861 others(37): Show c.861+48_861+71delATATATATATATATATATATATAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	9/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168820	TGAAAGAA others(17): Show TGAAAGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(58): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01169.hp1 HG01243.hp1 HG01258.hp1 HG01884.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18967.hp2 NA18969.hp1 NA18990.hp1 NA18993.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19077.hp1 NA19087.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0039 a0001c0001t0046 a0002c0002t0003 a0002c0002t0015 a0002c0003t0012 a0002c0003t0013 a0002c0003t0020 a0002c0007t0018 a0003c0008t0009	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 others(58): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0005g0071 a0001c0001t0008g0248 a0001c0001t0008g0251 a0001c0001t0008g0255 a0001c0001t0008g0259 a0001c0001t0008g0260 a0001c0001t0008g0263 a0001c0001t0009g0079 a0001c0001t0009g0101 a0001c0001t0009g0149 a0001c0001t0014g0087 a0001c0001t0023g0133 a0001c0001t0025g0123 a0001c0001t0027g0122 a0001c0001t0028g0090 a0001c0001t0039g0154 a0001c0001t0046g0249 a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0089 a0002c0002t0003g0098 a0002c0002t0015g0134 a0002c0002t0015g0135 a0002c0003t0012g0253 a0002c0003t0012g0261 a0002c0003t0012g0262 a0002c0003t0013g0061 a0002c0003t0013g0091 a0002c0003t0020g0252 a0002c0003t0020g0254 a0002c0007t0018g0120 a0002c0007t0018g0121 a0003c0008t0009g0097	61	266	0.2293	-24	c.-17 others(45): Show c.-172-15105_-172-15082delTTTCTTTCTTTCTTTCTTTCTTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390035	ACACATAT others(17): Show ACACATATATGCGCGTATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02027.hp1 HG02083.hp1 others(1): Show HG01993.hp2 HG02027.hp1 HG02083.hp1 NA18953.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0010 a0002c0004t0012 a0002c0004t0003 a0002c0004t0010 a0002c0004t0012	a0002c0004t0003g0090 a0002c0004t0003g0105 a0002c0004t0010g0225 others(1): Show a0002c0004t0003g0090 a0002c0004t0003g0105 a0002c0004t0010g0225 a0002c0004t0012g0039	4	226	0.0177	-24	c.166 others(43): Show c.1667+2496_1667+2519delCACACGTATACGCGCATATATGTG	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9131635	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01255.hp2 others(3): Show HG00741.hp1 HG01243.hp2 HG01255.hp2 HG01981.hp2 HG02486.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0014	a0001c0001t0023 a0001c0001t0070 a0001c0004t0010 others(3): Show a0001c0001t0023 a0001c0001t0070 a0001c0004t0010 a0001c0004t0049 a0001c0007t0012 a0002c0014t0057	a0001c0001t0023g0017 a0001c0001t0070g0117 a0001c0004t0010g0049 others(3): Show a0001c0001t0023g0017 a0001c0001t0070g0117 a0001c0004t0010g0049 a0001c0004t0049g0011 a0001c0007t0012g0064 a0002c0014t0057g0087	6	134	0.0448	-24	c.159 others(43): Show c.1599+4845_1599+4868delGTTTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9197764	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0055 a0001c0022t0055	a0001c0022t0055g0081 a0001c0022t0055g0081	1	134	0.0075	-24	c.933 others(39): Show c.933-485_933-462delAAAACACACACACACACACACACA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	9/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384547	GATAGATA others(17): Show GATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0109 a0001c0001t0078g0109	1	134	0.0075	-24	c.-77 others(41): Show c.-77-4548_-77-4525delGTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384595	GATAGATA others(17): Show GATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01515.hp1 others(7): Show HG00140.hp1 HG01123.hp1 HG01515.hp1 HG01517.hp1 HG02258.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0005t0065 a0001c0006t0001 a0001c0007t0017 a0001c0011t0073	a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0015g0092 others(7): Show a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0002t0001g0071 a0001c0002t0004g0026 a0001c0005t0065g0123 a0001c0006t0001g0078 a0001c0007t0017g0084 a0001c0011t0073g0119	10	134	0.0746	-24	c.-77 others(41): Show c.-77-4596_-77-4573delGTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384619	CATAGATA others(17): Show CATAGATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00741.hp2 others(11): Show HG00280.hp2 HG00639.hp2 HG00741.hp2 HG02257.hp2 HG02258.hp2 HG02818.hp2 HG03098.hp2 HG03195.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 NA19012.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0032 a0001c0001t0054 a0001c0002t0009 a0001c0003t0012 a0001c0003t0019 a0001c0003t0041 a0001c0004t0062 a0001c0005t0042 a0001c0006t0007 a0001c0008t0027 a0001c0016t0038	a0001c0001t0001g0018 a0001c0001t0002g0131 a0001c0001t0028g0006 others(11): Show a0001c0001t0001g0018 a0001c0001t0002g0131 a0001c0001t0028g0006 a0001c0001t0032g0067 a0001c0001t0054g0094 a0001c0002t0009g0003 a0001c0003t0012g0068 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0004t0062g0114 a0001c0005t0042g0070 a0001c0006t0007g0088 a0001c0008t0027g0035 a0001c0016t0038g0037	14	134	0.1045	-24	c.-77 others(41): Show c.-77-4620_-77-4597delCTATCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384701	TAGATAGA others(17): Show TAGATAGATAGATAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0035 a0001c0001t0018 a0001c0001t0035	a0001c0001t0018g0098 a0001c0001t0035g0059 a0001c0001t0018g0098 a0001c0001t0035g0059	2	134	0.0149	-24	c.-77 others(41): Show c.-77-4702_-77-4679delGTCTGTCTGTCTATCTATCTATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9428145	TATCTATC others(17): Show TATCTATCTATCTATCTATCTATCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp2 NA19012.hp2 others(1): Show HG00673.hp1 HG02040.hp2 NA19012.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0004t0001 a0001c0004t0005 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0005 a0001c0008t0027	a0001c0001t0001g0014 a0001c0004t0001g0039 a0001c0004t0005g0044 others(1): Show a0001c0001t0001g0014 a0001c0004t0001g0039 a0001c0004t0005g0044 a0001c0008t0027g0035	4	134	0.0299	-24	c.-78 others(41): Show c.-78+9587_-78+9610delGGATAGATAGATAGATAGATAGAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	123030622	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0005 a0004c0008t0010g0005	2	290	0.0069	-24	c.-32 others(35): Show c.-3221_-3198delGAGAGAGAGAGAGAGAGAGAGAGA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2860		chr3	TogoVar
SENP1_chr12_48037897_48111079	48056326	AAATATTA others(17): Show AAATATTATTTAATATATTACATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(70): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(62): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0287	73	394	0.1853	-24	c.140 others(43): Show c.1408-7218_1408-7195delATATGTAATATATTAAATAATATT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185584449	CTACATAT others(17): Show CTACATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01192.hp1 HG00280.hp1 HG01123.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0113 a0002c0002t0001 a0002c0002t0113	a0002c0002t0001g0234 a0002c0002t0001g0274 a0002c0002t0113g0247 a0002c0002t0001g0234 a0002c0002t0001g0274 a0002c0002t0113g0247	3	360	0.0083	-24	c.-19 others(35): Show c.-1964_-1941delTACATATATATATATATATATATA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1845		chr3	TogoVar
SENP2_chr3_185581295_185638551	185584452	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18947.hp1 NA18960.hp1 others(2): Show HG00438.hp1 NA18947.hp1 NA18960.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0034	a0001c0001t0004g0098 a0001c0001t0005g0049 a0001c0001t0012g0081 others(2): Show a0001c0001t0004g0098 a0001c0001t0005g0049 a0001c0001t0012g0081 a0001c0001t0013g0171 a0001c0001t0034g0131	5	360	0.0139	-24	c.-19 others(35): Show c.-1961_-1938delATATATATATATATATATATATAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1842		chr3	TogoVar

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