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
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02809.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG02809.hp2 NA18991.hp1 NA18995.hp1 NA19030.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0015 a0001c0001t0181 a0002c0005t0015 a0001c0001t0015 a0001c0001t0181 a0002c0005t0015	a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0181g0007 others(2): Show a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0181g0007 a0002c0005t0015g0008 a0002c0005t0015g0074	7	446	0.0157	-24	c.40 others(33): Show c.403_*426delTATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	403	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571886	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp1 NA18961.hp2 NA18956.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0146 a0001c0001t0122 a0001c0001t0146	a0001c0001t0122g0004 a0001c0001t0146g0004 a0001c0001t0122g0004 a0001c0001t0146g0004	2	446	0.0045	-24	c.40 others(33): Show c.405_*428delTATATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	405	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571888	TATATATA others(17): Show TATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 NA18991.hp2 HG03834.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0011 a0001c0001t0074g0011	2	446	0.0045	-24	c.41 others(33): Show c.413_*436delTATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	413	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP6_chr6_75596880_75723281	75638578	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	362	0.0028	-24	c.459 others(41): Show c.459-2104_459-2081delGTGTGTGTGTGTATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638584	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	362	0.0028	-24	c.459 others(41): Show c.459-2098_459-2075delGTGTGTATATATATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638608	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	362	0.0028	-24	c.459 others(41): Show c.459-2074_459-2051delATATATATATATATTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	346	0.0029	-24	c.169 others(41): Show c.169+5394_169+5417delTTCCTTCCTTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01257.hp2 others(4): Show HG00099.hp2 HG00408.hp2 HG01257.hp2 HG02293.hp2 HG02738.hp2 NA19087.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0001t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0310 others(4): Show a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0310 a0001c0001t0001g0335 a0001c0001t0015g0260 a0001c0002t0001g0011 a0001c0002t0001g0014	7	346	0.0202	-24	c.169 others(41): Show c.169+5398_169+5421delTTCCTTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(17): Show TTCCTTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG02004.hp1 others(1): Show HG01192.hp1 HG01952.hp2 HG02004.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0250 a0001c0001t0001g0286 a0001c0002t0001g0012 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0286 a0001c0002t0001g0012 a0001c0002t0001g0013	4	346	0.0116	-24	c.169 others(41): Show c.169+5402_169+5425delTTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838302	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp2 HG02074.hp2 others(6): Show HG00558.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02735.hp1 HG03834.hp2 NA18979.hp1 NA18991.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0320	9	346	0.0260	-24	c.169 others(41): Show c.169+5442_169+5465delCTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77466054	TCACACAC others(17): Show TCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02451.hp2 others(6): Show HG01069.hp2 HG01071.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(6): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0007g0146 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0017g0140	9	150	0.0600	-24	c.722 others(43): Show c.722-16060_722-16037delACACACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77466054	TCACACAC others(17): Show TCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02559.hp2 others(5): Show HG01069.hp2 HG01071.hp2 HG02559.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 a0001c0001t0054 a0001c0001t0056	a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0010g0078 others(5): Show a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0054g0073 a0001c0001t0056g0075	8	158	0.0506	-24	c.668 others(43): Show c.668-16060_668-16037delACACACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158143327	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01975.hp1 HG02965.hp2 others(1): Show HG00140.hp2 HG01975.hp1 HG02965.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0003t0007 a0001c0002t0003 a0001c0002t0004 a0001c0003t0007	a0001c0002t0003g0314 a0001c0002t0004g0015 a0001c0003t0007g0196 a0001c0002t0003g0314 a0001c0002t0004g0015 a0001c0003t0007g0196	4	366	0.0109	-24	c.610 others(39): Show c.610-167_610-144delTATAGAGAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143329	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00741.hp2 others(15): Show HG00280.hp2 HG00642.hp2 HG00741.hp2 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG03239.hp2 HG03490.hp2 HG03942.hp2 HG04199.hp1 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0003t0007 a0001c0002t0003 a0001c0002t0004 a0001c0003t0007	a0001c0002t0003g0258 a0001c0002t0003g0277 a0001c0002t0003g0278 others(14): Show a0001c0002t0003g0258 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0290 a0001c0002t0003g0295 a0001c0002t0003g0313 a0001c0002t0003g0321 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0004g0014 a0001c0002t0004g0289 a0001c0002t0004g0292 a0001c0002t0004g0296 a0001c0002t0004g0297 a0001c0003t0007g0186 a0001c0003t0007g0189 a0001c0003t0007g0190	18	366	0.0492	-24	c.610 others(39): Show c.610-169_610-146delTATATAGAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143331	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00609.hp1 others(37): Show HG00323.hp1 HG00408.hp2 HG00609.hp1 HG00738.hp1 HG01071.hp1 HG01099.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02615.hp1 HG02698.hp2 HG03017.hp1 HG03041.hp2 HG03471.hp2 HG03654.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18952.hp2 NA18970.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19072.hp1 NA19078.hp2 NA19086.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0003t0007 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0003t0007 a0001c0003t0009	a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0016 others(34): Show a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0016 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0275 a0001c0002t0003g0279 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0286 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0325 a0001c0002t0003g0326 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0332 a0001c0002t0003g0338 a0001c0002t0004g0287 a0001c0003t0007g0191 a0001c0003t0007g0194 a0001c0003t0009g0188 a0001c0003t0009g0193	40	366	0.1093	-24	c.610 others(39): Show c.610-171_610-148delTATATATAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143333	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01358.hp2 HG02071.hp2 others(9): Show HG01168.hp2 HG01358.hp2 HG02071.hp2 HG02083.hp2 HG03130.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp2 NA19009.hp1 NA19054.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0003 a0001c0001t0002 a0001c0001t0010 a0001c0002t0003	a0001c0001t0002g0230 a0001c0001t0010g0344 a0001c0002t0003g0024 others(9): Show a0001c0001t0002g0230 a0001c0001t0010g0344 a0001c0002t0003g0024 a0001c0002t0003g0259 a0001c0002t0003g0280 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0304 a0001c0002t0003g0306 a0001c0002t0003g0310 a0001c0002t0003g0327 a0001c0002t0003g0331	12	366	0.0328	-24	c.610 others(39): Show c.610-173_610-150delTATATATATAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143335	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG02897.hp1 HG02486.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0009 a0001c0001t0010 a0001c0003t0009	a0001c0001t0010g0342 a0001c0001t0010g0343 a0001c0003t0009g0192 a0001c0001t0010g0342 a0001c0001t0010g0343 a0001c0003t0009g0192	3	366	0.0082	-24	c.610 others(39): Show c.610-175_610-152delTATATATATATAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERGEF_chr11_17783048_18018047	17896866	GGGAAGGG others(17): Show GGGAAGGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	226	0.0044	-24	c.101 others(45): Show c.1012-18646_1012-18623delTTCCCTTCCCTTCCCTTCCCTTCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	18015272	TGTGAGAG others(17): Show TGTGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	226	0.0044	-24	c.-22 others(35): Show c.-2286_-2263delTCTCTCTCTCTCTCTCTCTCTCAC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding		2226		chr11	TogoVar
SERINC5_chr5_80133727_80261048	80251279	AATACATA others(17): Show AATACATACATGCATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG03540.hp1 HG01891.hp1 HG02647.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0049 a0001c0001t0058 a0001c0001t0008 a0001c0001t0049 a0001c0001t0058	a0001c0001t0008g0241 a0001c0001t0049g0242 a0001c0001t0058g0243 a0001c0001t0008g0241 a0001c0001t0049g0242 a0001c0001t0058g0243	3	286	0.0105	-24	c.27+ others(39): Show c.27+4593_27+4616delGTATGTATGTATGCATGTATGTAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94449405	TATTCTTT others(17): Show TATTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18960.hp2 NA18992.hp1 HG02523.hp2 NA18960.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0241 a0001c0001t0001g0011 a0001c0001t0001g0241	3	452	0.0066	-24	c.-3- others(37): Show c.-3-652_-3-629delGAAAGAAAGAAAGAAAGAAAGAAT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	452	0.0022	-24	c.-4+ others(37): Show c.-4+107_-4+130delGTGTGTGTGTGTGTGTGTGTGTGT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA1_chr14_94371747_94393602	94378885	GGGAAGAG others(17): Show GGGAAGAGCATCGTCACTCCACGTC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01192.hp2 others(1): Show HG00733.hp1 HG01074.hp1 HG01192.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0025 a0002c0002t0037 a0002c0002t0005 a0002c0002t0025 a0002c0002t0037	a0002c0002t0005g0080 a0002c0002t0025g0041 a0002c0002t0037g0140 a0002c0002t0005g0080 a0002c0002t0025g0041 a0002c0002t0037g0140	4	443	0.0090	-24	c.106 others(41): Show c.1066-269_1066-246delGACGTGGAGTGACGATGCTCTTCC	SERPINA1	ENSG00000197249.14	transcript	ENST00000393087.9	protein_coding	4/4			chr14	TogoVar
SERPINB5_chr18_63471958_63510085	63473286	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0144 a0004c0005t0001g0144	1	410	0.0024	-24	c.-37 others(35): Show c.-3766_-3743delAAAAAAAAAAAAAAAAAAAAAAAA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding		3671		chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783212	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	432	0.0023	-24	c.168 others(39): Show c.168+676_168+699delGAGAGAGAGAGAGAGAGAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101135257	GAGAGAGA others(17): Show GAGAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02895.hp1 others(3): Show HG02280.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0001g0127 a0001c0001t0001g0319 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0127 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0265 a0001c0001t0002g0267	6	436	0.0138	-24	c.900 others(39): Show c.900-233_900-210delGAGAAAGAAAGAAAGAAAGAAAGA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02572.hp1 others(1): Show HG02451.hp2 HG02486.hp2 HG02572.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 others(1): Show a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0241	4	436	0.0092	-24	c.108 others(41): Show c.1088-559_1088-536delAAGAAAGAAAGAAAGAAAGAAAGA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224044128	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01358.hp2 others(17): Show HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG02523.hp2 HG02895.hp1 HG03516.hp2 HG06807.hp2 NA18747.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18988.hp2 NA19058.hp2 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0004c0011	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(3): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0007t0002 a0004c0011t0002	a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0261 others(16): Show a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0003t0002g0239 a0001c0003t0002g0270 a0001c0003t0002g0275 a0001c0004t0002g0225 a0001c0004t0002g0227 a0001c0004t0002g0229 a0001c0004t0002g0251 a0001c0004t0002g0254 a0001c0004t0002g0257 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0005t0002g0009 a0001c0007t0002g0283 a0004c0011t0002g0260	20	374	0.0535	-24	c.-50 others(35): Show c.-5076_-5053delGAAAGAAAGAAAGAAAGAAAGAAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4843		chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167772885	TATATATA others(17): Show TATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	232	0.0043	-24	c.-18 others(43): Show c.-18-16224_-18-16201delTATATATACACACACACACACACA	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM2_chrX_111506645_111527399	111524322	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03041.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG03041.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	259	0.0193	-24	c.51 others(35): Show c.5193_*5216delTGTGTATATATATATATATATATA	SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding		1924		chrX	TogoVar
SESN1_chr6_108979309_109099846	108989427	ATATATCT others(17): Show ATATATCTAGATCTAGATACATCTC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	184	0.0054	-24	c.142 others(41): Show c.1425-764_1425-741delGAGATGTATCTAGATCTAGATATA	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	8/9			chr6	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01261.hp1 others(4): Show HG01070.hp1 HG01074.hp1 HG01261.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 NA18953.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0137 a0001c0001t0002g0127 a0001c0001t0005g0138 others(4): Show a0001c0001t0001g0137 a0001c0001t0002g0127 a0001c0001t0005g0138 a0001c0001t0025g0042 a0002c0002t0001g0136 a0002c0002t0002g0135 a0003c0003t0001g0139	7	140	0.0500	-24	c.486 others(41): Show c.486+1539_486+1562delTTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(17): Show CGGAAGGAAGGGAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(10): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01934.hp2 HG01978.hp1 HG02523.hp1 HG02647.hp1 HG02896.hp1 HG03453.hp2 HG03486.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0008c0011 a0012c0014	a0001c0001t0001 a0001c0001t0005 a0001c0005t0002 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0003c0003t0001 a0003c0003t0017 a0008c0011t0004 a0012c0014t0001	a0001c0001t0001g0040 a0001c0001t0005g0087 a0001c0005t0002g0031 others(10): Show a0001c0001t0001g0040 a0001c0001t0005g0087 a0001c0005t0002g0031 a0002c0002t0001g0136 a0002c0002t0002g0043 a0002c0002t0002g0135 a0002c0002t0005g0107 a0002c0002t0014g0130 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0017g0052 a0008c0011t0004g0124 a0012c0014t0001g0104	13	140	0.0929	-24	c.487 others(39): Show c.487-518_487-495delGAGGAAGGAAGGAAGGAAGGAAGG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1A_chr16_30952754_30989664	30989405	TAGAAATG others(17): Show TAGAAATGGGACTCTGAGGGCTAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(135): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19063.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 others(2): Show a0001 a0006 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0001c0022 a0001c0025 a0001c0027 a0001c0028 a0006c0017 a0009c0019 a0010c0018 a0011c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0020t0001 a0001c0022t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0006c0017t0001 a0009c0019t0001 a0010c0018t0001 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0006g0090 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0003t0001g0001 a0001c0003t0001g0125 a0001c0003t0001g0142 a0001c0003t0001g0156 a0001c0003t0001g0168 a0001c0005t0001g0027 a0001c0005t0001g0127 a0001c0005t0001g0144 a0001c0005t0001g0151 a0001c0008t0001g0137 a0001c0008t0001g0138 a0001c0011t0001g0025 a0001c0011t0001g0123 a0001c0012t0001g0128 a0001c0012t0001g0148 a0001c0014t0001g0130 a0001c0020t0001g0001 a0001c0022t0001g0147 a0001c0025t0001g0029 a0001c0027t0001g0001 a0001c0028t0001g0001 a0006c0017t0001g0027 a0009c0019t0001g0001 a0010c0018t0001g0093 a0011c0016t0001g0009	138	274	0.5037	-24	c.53 others(35): Show c.5383_*5406delAGAAATGGGACTCTGAGGGCTAAC	SETD1A	ENSG00000099381.20	transcript	ENST00000262519.14	protein_coding		4742		chr16	TogoVar
SETD2_chr3_47011436_47169113	47049304	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0165 a0002c0001t0001g0165	1	308	0.0033	-24	c.696 others(43): Show c.6964-2707_6964-2684delATATATATATATATATATATATAT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47153275	TATTAACC others(17): Show TATTAACCAAAAATTATACAAGGTA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	308	0.0033	-24	c.71+ others(41): Show c.71+10555_71+10578delTACCTTGTATAATTTTTGGTTAAT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	1/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99420947	CGGGGGGG others(17): Show CGGGGGGGGGGGGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19063.hp1 NA18986.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0177 a0001c0001t0001g0185	2	290	0.0069	-24	c.676 others(41): Show c.676-7037_676-7014delCCCCCCCCCCCCCCCCCCCCCCCC	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99444567	ATCAAAAC others(17): Show ATCAAAACATCACCAATGGGCCAGG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	290	0.0035	-24	c.675 others(43): Show c.675+13688_675+13711delCCTGGCCCATTGGTGATGTTTTGA	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETX_chr9_132256356_132359986	132357914	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0035 a0002c0002t0003g0035	1	362	0.0028	-24	c.-31 others(35): Show c.-3136_-3113delATTTATTTATTTATTTATTTATTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding		2929		chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26292014	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01261.hp2 others(5): Show HG00738.hp2 HG01099.hp2 HG01261.hp2 HG02280.hp1 HG02647.hp2 HG02738.hp2 HG03453.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0025 others(3): Show a0001c0001 a0001c0003 a0001c0025 a0001c0026 a0002c0005 a0002c0012	a0001c0001t0005 a0001c0003t0001 a0001c0003t0016 others(4): Show a0001c0001t0005 a0001c0003t0001 a0001c0003t0016 a0001c0025t0006 a0001c0026t0021 a0002c0005t0001 a0002c0012t0004	a0001c0001t0005g0133 a0001c0003t0001g0030 a0001c0003t0016g0172 others(5): Show a0001c0001t0005g0133 a0001c0003t0001g0030 a0001c0003t0016g0172 a0001c0025t0006g0119 a0001c0026t0021g0115 a0002c0005t0001g0096 a0002c0005t0001g0191 a0002c0012t0004g0150	8	240	0.0333	-24	c.95- others(37): Show c.95-388_95-365delAGGAAGGAAGGAAGGAAGGATGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26356642	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0029 a0002c0012 a0001c0029 a0002c0012	a0001c0029t0023 a0002c0012t0001 a0001c0029t0023 a0002c0012t0001	a0001c0029t0023g0207 a0002c0012t0001g0148 a0001c0029t0023g0207 a0002c0012t0001g0148	2	240	0.0083	-24	c.259 others(43): Show c.2599+5427_2599+5450delAATAATAATAATAATAATAATAAT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928619	CATATATA others(17): Show CATATATACATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(48): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18966.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19012.hp1 NA19054.hp2 NA19081.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(48): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0192 a0001c0001t0001g0223 a0001c0001t0001g0289 a0001c0001t0001g0322 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0006g0001 a0001c0001t0009g0055	51	328	0.1555	-24	c.898 others(39): Show c.898-302_898-279delATATATGTATATATATGTATATAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7228672	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120	3	144	0.0208	-24	c.112 others(41): Show c.1121-759_1121-736delAGAAAGAAAGAAAGAAAGAAAGAA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7228761	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01192.hp2 others(13): Show HG00642.hp2 HG00738.hp2 HG01192.hp2 HG01261.hp1 HG01928.hp2 HG02148.hp2 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0139 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0139 a0001c0001t0002g0050 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0003g0086 a0001c0001t0008g0102 a0001c0001t0008g0143 a0001c0001t0015g0085 a0001c0001t0018g0031 a0001c0001t0019g0051 a0001c0001t0031g0136 a0001c0001t0034g0133 a0001c0001t0035g0082 a0001c0002t0001g0101	16	144	0.1111	-24	c.112 others(41): Show c.1121-848_1121-825delGGGGAGAGAGAGAGAGAGAGAGAG	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7315038	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	144	0.0069	-24	c.437 others(43): Show c.437-29108_437-29085delTTCTTTCTTTCTTTCTTTCTTTCT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20			chr10	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18998.hp1 HG01891.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0000 a0001c0001t0016g0000 a0001c0001t0003g0000 a0001c0001t0016g0000	2	332	0.0060	-24	c.42 others(35): Show c.4290_*4313delTCTCTCTCTCTCTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3793		chr1	TogoVar
SFR1_chr10_104117171_104131383	104131194	AATAAAAG others(17): Show AATAAAAGTTGAAATTATTTTAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	426	0.0024	-24	c.54 others(35): Show c.5491_*5514delATAAAAGTTGAAATTATTTTAAAC	SFR1	ENSG00000156384.15	transcript	ENST00000369727.4	protein_coding		4812		chr10	TogoVar
SFRP1_chr8_41256962_41314473	41290875	CTCTTCCT others(17): Show CTCTTCCTCGTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(93): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0034	a0001c0001t0001g0052 a0001c0001t0001g0121 a0001c0001t0001g0124 others(90): Show a0001c0001t0001g0052 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0125 a0001c0001t0002g0138 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0212 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0003g0156 a0001c0001t0003g0188 a0001c0001t0003g0203 a0001c0001t0004g0017 a0001c0001t0004g0133 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0201 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0221 a0001c0001t0005g0254 a0001c0001t0006g0033 a0001c0001t0008g0003 a0001c0001t0008g0025 a0001c0001t0008g0027 a0001c0001t0008g0216 a0001c0001t0008g0236 a0001c0001t0009g0002 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0001t0012g0046 a0001c0001t0015g0032 a0001c0001t0015g0090 a0001c0001t0015g0242 a0001c0001t0028g0008 a0001c0001t0030g0250 a0001c0001t0035g0114 a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0003t0002g0260 a0002c0002t0001g0267 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0306 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0350 a0002c0002t0001g0353 a0002c0002t0001g0368 a0002c0002t0002g0006 a0002c0002t0002g0274 a0002c0002t0002g0284 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0315 a0002c0002t0002g0340 a0002c0002t0002g0342 a0002c0002t0002g0348 a0002c0002t0002g0349 a0002c0002t0002g0351 a0002c0002t0002g0355 a0002c0002t0002g0357 a0002c0002t0002g0375 a0002c0002t0004g0338 a0002c0002t0004g0376 a0002c0002t0034g0372	96	384	0.2500	-24	c.622 others(43): Show c.622+12562_622+12585delAAAAAAAAAAAAAGACGAGGAAGA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFRP4_chr7_37900932_37921817	37905434	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01168.hp2 others(1): Show HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0003 a0001c0001t0003 a0001c0008t0003	a0001c0001t0003g0002 a0001c0008t0003g0018 a0001c0001t0003g0002 a0001c0008t0003g0018	4	472	0.0085	-24	c.20 others(35): Show c.2021_*2044delTAGATAGATAGATAGATAGATAGA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		497		chr7	TogoVar
SFRP4_chr7_37900932_37921817	37905468	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19086.hp2 NA19006.hp1 NA19086.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0008 a0001c0004t0006g0008	2	472	0.0042	-24	c.19 others(35): Show c.1987_*2010delAGATGATAGATAGATAGATAGATA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		463		chr7	TogoVar

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