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 per page.

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
CFAP95_chr9_69815817_69911227	69843542	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	380	0.0026	-33	c.153 others(48): Show c.153-972_153-940delCCTCCTCCTCCTCCTTCTTCTTCTTCTTCT TCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843545	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	380	0.0026	-33	c.153 others(48): Show c.153-969_153-937delCCTCCTCCTCCTTCTTCTTCTTCTTCTTCT TCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CGNL1_chr15_57371505_57555717	57405810	CCTTCTTT others(26): Show CCTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02809.hp1 others(5): Show HG01243.hp1 HG02280.hp2 HG02809.hp1 HG02922.hp1 HG03195.hp2 HG03654.hp1 NA18984.hp1 NA19030.hp1	a0001 a0006 a0015 others(1): Show a0001 a0006 a0015 a0024	a0001c0001 a0006c0007 a0015c0035 others(1): Show a0001c0001 a0006c0007 a0015c0035 a0024c0024	a0001c0001t0001 a0001c0001t0025 a0006c0007t0005 others(3): Show a0001c0001t0001 a0001c0001t0025 a0006c0007t0005 a0006c0007t0009 a0015c0035t0012 a0024c0024t0002	a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0025g0228 others(5): Show a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0025g0228 a0006c0007t0005g0142 a0006c0007t0005g0164 a0006c0007t0009g0122 a0015c0035t0012g0284 a0024c0024t0002g0111	8	294	0.0272	-33	c.-16 others(52): Show c.-16+29244_-16+29276delCTTCTTTCTTTCTTTCTTTTTCTTTC TTTTCTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18			chr15	TogoVar
CHCHD6_chr3_126699240_126965420	126863101	ACCTCCTC others(26): Show ACCTCCTCCTCCTCCTCCACCATCATCACCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG02055.hp2 others(3): Show HG01496.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215	6	216	0.0278	-33	c.495 others(52): Show c.495+10383_495+10415delTCCTCCACCATCATCACCTCCTCCTC CTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865068	TCCACCAC others(26): Show TCCACCACCTCCACTTCTTCCTCCTCCTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01346.hp2 others(28): Show HG00639.hp1 HG01109.hp1 HG01346.hp2 HG01884.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0008t0002	a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 others(28): Show a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0002c0002t0001g0010 a0002c0002t0001g0031 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0006c0008t0002g0098	31	216	0.1435	-33	c.495 others(52): Show c.495+12371_495+12403delACCACCACCTCCACTTCTTCCTCCTC CTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHFR_chr12_132827356_132892605	132857005	GCCCTCAC others(26): Show GCCCTCACGTGCCTGGGTGCTGGTGGAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(52): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18906.hp1 NA18946.hp1 NA18998.hp1 NA19004.hp2 NA19055.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 others(12): Show a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019	a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 others(52): Show a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0346 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0345 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350	55	378	0.1455	-33	c.106 others(50): Show c.1066+367_1067-376delTGGTCCCTCCACCAGCACCCAGGCACGT GAGGG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	9/17			chr12	TogoVar
CHGA_chr14_92918150_92940285	92919931	TTGTGCGC others(26): Show TTGTGCGCTGTCAAAGTATGCGCTATTAATAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(156): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18991.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0006 a0009 a0013 a0015 a0016 a0019 a0021 a0022 a0024 a0025 a0026 a0027	a0001c0001 a0001c0005 a0001c0022 others(16): Show a0001c0001 a0001c0005 a0001c0022 a0001c0023 a0002c0002 a0003c0004 a0005c0009 a0006c0008 a0009c0012 a0013c0030 a0015c0027 a0016c0026 a0019c0028 a0021c0020 a0022c0021 a0024c0032 a0025c0017 a0026c0015 a0027c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0022t0001 a0001c0023t0001 a0002c0002t0001 a0003c0004t0001 a0005c0009t0001 a0006c0008t0001 a0009c0012t0001 a0013c0030t0001 a0015c0027t0001 a0016c0026t0013 a0019c0028t0001 a0021c0020t0001 a0022c0021t0001 a0024c0032t0001 a0025c0017t0001 a0026c0015t0001 a0027c0033t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0011 a0001c0001t0004g0037 a0001c0001t0004g0064 a0001c0001t0006g0002 a0001c0001t0007g0038 a0001c0001t0011g0003 a0001c0001t0012g0002 a0001c0005t0001g0003 a0001c0005t0001g0007 a0001c0005t0001g0021 a0001c0005t0001g0024 a0001c0005t0001g0072 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0077 a0001c0022t0001g0003 a0001c0023t0001g0023 a0002c0002t0001g0030 a0002c0002t0001g0100 a0003c0004t0001g0014 a0005c0009t0001g0031 a0005c0009t0001g0043 a0005c0009t0001g0071 a0006c0008t0001g0002 a0006c0008t0001g0094 a0009c0012t0001g0002 a0013c0030t0001g0002 a0015c0027t0001g0081 a0016c0026t0013g0044 a0019c0028t0001g0002 a0021c0020t0001g0014 a0022c0021t0001g0002 a0024c0032t0001g0045 a0025c0017t0001g0003 a0026c0015t0001g0003 a0027c0033t0004g0011	159	447	0.3557	-33	c.-34 others(44): Show c.-3428_-3396delTGTGCGCTGTCAAAGTATGCGCTATTAATAAAG	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		3218		chr14	TogoVar
CHGB_chr20_5906510_5930353	5926063	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0006 a0003c0003t0003g0006	1	440	0.0023	-33	c.10 others(44): Show c.1015_*1047delAAAAAATATATATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		711		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926069	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	440	0.0023	-33	c.10 others(44): Show c.1021_*1053delTATATATATATATATATATATATATATATATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		717		chr20	TogoVar
CHN2_chr7_29189775_29519328	29508911	CAATACTA others(26): Show CAATACTACCGTATGTGGTGCAGTTTAAATTAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0221 a0001c0002t0002g0171 a0001c0001t0005g0221 a0001c0002t0002g0171	2	232	0.0086	-33	c.113 others(50): Show c.1130-388_1130-356delATACTACCGTATGTGGTGCAGTTTAAAT TAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRNA4_chr20_63338223_63366349	63353619	GAGGGGGC others(26): Show GAGGGGGCTGTGGTCCTGGAGGGGCTGTAGTCCT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	168	0.0060	-33	c.383 others(50): Show c.383+2323_383+2355delAGGACTACAGCCCCTCCAGGACCACAGC CCCCT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353639	GGGGCTGT others(26): Show GGGGCTGTAGTCCTAGGGGGCTGTGGTCCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02698.hp2 HG03492.hp1 others(2): Show HG00323.hp2 HG02698.hp2 HG03492.hp1 HG03688.hp2 HG04115.hp2	a0000 a0001 a0000 a0001	a0000c0006 a0001c0001 a0000c0006 a0001c0001	a0000c0006t0015 a0001c0001t0013 a0001c0001t0014 a0000c0006t0015 a0001c0001t0013 a0001c0001t0014	a0000c0006t0015g0032 a0001c0001t0013g0105 a0001c0001t0013g0130 others(2): Show a0000c0006t0015g0032 a0001c0001t0013g0105 a0001c0001t0013g0130 a0001c0001t0014g0128 a0001c0001t0014g0129	5	168	0.0298	-33	c.383 others(50): Show c.383+2303_383+2335delTCCCAGGACCACAGCCCCCTAGGACTAC AGCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353646	TAGTCCTA others(26): Show TAGTCCTAGGGGGCTGTGGTCCTGGGAGGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(35): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01192.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18945.hp1 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19010.hp2 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0006 a0001c0001 a0002c0012 a0000c0006 a0001c0001 a0002c0012	a0000c0006t0003 a0001c0001t0003 a0001c0001t0004 others(8): Show a0000c0006t0003 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0002c0012t0003	a0000c0006t0003g0109 a0001c0001t0003g0006 a0001c0001t0003g0107 others(31): Show a0000c0006t0003g0109 a0001c0001t0003g0006 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0004g0005 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0082 a0001c0001t0017g0015 a0001c0001t0029g0124 a0001c0001t0030g0114 a0001c0001t0032g0116 a0001c0001t0033g0112 a0001c0001t0035g0117 a0002c0012t0003g0119	38	168	0.2262	-33	c.383 others(50): Show c.383+2296_383+2328delGCAGCCCTCCCAGGACCACAGCCCCCTA GGACT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353672	AGGGCTGC others(26): Show AGGGCTGCAGTCCTAGGAGGCTGTGGTCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG01981.hp1 others(1): Show HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0061 a0001c0002t0001g0071 a0001c0002t0001g0010 a0001c0002t0001g0061 a0001c0002t0001g0071	4	168	0.0238	-33	c.383 others(50): Show c.383+2270_383+2302delCCCCAGGACCACAGCCTCCTAGGACTGC AGCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(26): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG01175.hp2 others(10): Show HG00621.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01981.hp2 HG02015.hp2 HG02683.hp2 HG03239.hp2 HG03471.hp1 HG03710.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0198 others(10): Show a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0002g0011 a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0003g0250 a0001c0001t0006g0185	13	254	0.0512	-33	c.-40 others(44): Show c.-4062_-4030delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757434	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	254	0.0039	-33	c.131 others(52): Show c.131-13976_131-13944delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33767076	CTAGCATC others(26): Show CTAGCATCATCGCCCATCAGGGCTCGGGGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp1 HG01515.hp2 others(5): Show HG01071.hp1 HG01099.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02717.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0178 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0004g0002 a0001c0001t0004g0006	8	254	0.0315	-33	c.131 others(50): Show c.131-4336_131-4304delTAGCATCATCGCCCATCAGGGCTCGGGG CTGGG	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHSY3_chr5_129899465_130191634	130047043	TAAAGTAT others(26): Show TAAAGTATGGTATTGTTTCTCCTATGCTGTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01074.hp2 others(4): Show HG00323.hp1 HG00735.hp1 HG01074.hp2 HG01257.hp2 HG01358.hp2 HG02257.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0002g0157 others(4): Show a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0212	7	276	0.0254	-33	c.108 others(56): Show c.1087-137185_1087-137153delAAAGTATGGTATTGTTTCTCCT ATGCTGTTTCA	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2			chr5	TogoVar
CHURC1_chr14_64909455_64940368	64917430	GGAGGCGC others(26): Show GGAGGCGCCTGTAATCCCAGCTACTTGGGAGGCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0056 a0001c0001t0015g0056	2	392	0.0051	-33	c.39+ others(48): Show c.39+2903_39+2935delCCTGTAATCCCAGCTACTTGGGAGGCTGAG GCG	CHURC1	ENSG00000258289.10	transcript	ENST00000549115.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
CIB4_chr2_26576205_26646366	26589039	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0322 a0001c0001t0002g0162 a0001c0001t0001g0322 a0001c0001t0002g0162	2	344	0.0058	-33	c.329 others(50): Show c.329-5174_329-5142delGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIR1_chr2_174343022_174400712	174355915	ACTTGTGT others(26): Show ACTTGTGTTTCACTGCAAACACTAGGTCCATCTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	348	0.0029	-33	c.485 others(50): Show c.485-4223_485-4191delCAGATGGACCTAGTGTTTGCAGTGAAAC ACAAG	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CLCN7_chr16_1439935_1480028	1459592	AGCTCAGC others(26): Show AGCTCAGCACACACTTCGGGGCCCCAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03017.hp1 HG03831.hp1 HG01515.hp2 HG03017.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0002 a0001c0001t0045 a0001c0002t0002	a0001c0001t0045g0230 a0001c0002t0002g0197 a0001c0002t0002g0223 a0001c0001t0045g0230 a0001c0002t0002g0197 a0001c0002t0002g0223	3	404	0.0074	-33	c.595 others(48): Show c.595-438_595-406delCCCTTCCCTGGGGCCCCGAAGTGTGTGCTG AGC	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	6/24			chr16	TogoVar
CLDN8_chr21_30209006_30221097	30210529	ATATATAT others(26): Show ATATATATATAGTCTCCCTAATTCTAATTCAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-33	c.46 others(44): Show c.4686_*4718delCCTTGAATTAGAATTAGGGAGACTATATATATA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3476		chr21	TogoVar
CLEC4G_chr19_7723957_7737110	7734343	TTGGCTGT others(26): Show TTGGCTGTCACTGAGCAGAGAGTAGATGGCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02896.hp2 others(5): Show HG02280.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017	8	432	0.0185	-33	c.-22 others(44): Show c.-2274_-2242delGGAAGCCATCTACTCTCTGCTCAGTGACAGCCA	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		2234		chr19	TogoVar
CLIP2_chr7_74284407_74410935	74390164	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp1 HG00735.hp2 HG02886.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0003 a0004c0016t0001 a0001c0001t0003 a0004c0016t0001	a0001c0001t0003g0064 a0004c0016t0001g0212 a0001c0001t0003g0064 a0004c0016t0001g0212	2	278	0.0072	-33	c.272 others(50): Show c.2720+906_2720+938delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	13/16			chr7	TogoVar
CLPSL1_chr6_35776019_35793150	35790622	TTTAGGAA others(26): Show TTTAGGAAAGATGAATGGGCCCTTAGGAGAAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	444	0.0023	-33	c.26 others(44): Show c.2613_*2645delTTAGGAAAGATGAATGGGCCCTTAGGAGAAAAG	CLPSL1	ENSG00000204140.10	transcript	ENST00000373861.6	protein_coding		2473		chr6	TogoVar
CLPS_chr6_35789982_35802323	35790622	TTTAGGAA others(26): Show TTTAGGAAAGATGAATGGGCCCTTAGGAGAAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-33	c.44 others(44): Show c.4491_*4523delCTTTTCTCCTAAGGGCCCATTCATCTTTCCTAA	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding		4359		chr6	TogoVar
CLPTM1L_chr5_1312752_1350099	1314273	TCCCCCCA others(26): Show TCCCCCCAGACATCCCGGTTCAGCCCCAGAACCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	370	0.0027	-33	c.40 others(44): Show c.4063_*4095delCGGTTCTGGGGCTGAACCGGGATGTCTGGGGGG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding		3478		chr5	TogoVar
CLTCL1_chr22_19174473_19296719	19177346	TGCCCACA others(26): Show TGCCCACACGGACCATGCCCCGGGACACAGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02083.hp1 HG02735.hp2 others(12): Show HG02080.hp1 HG02083.hp1 HG02735.hp2 HG03654.hp1 NA18947.hp2 NA18957.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp2 NA19000.hp1 NA19012.hp2 NA19054.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0016 a0005c0007 a0010c0016	a0005c0007t0006 a0010c0016t0006 a0005c0007t0006 a0010c0016t0006	a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 others(12): Show a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 a0005c0007t0006g0301 a0005c0007t0006g0302 a0005c0007t0006g0303 a0005c0007t0006g0304 a0005c0007t0006g0305 a0005c0007t0006g0306 a0005c0007t0006g0307 a0005c0007t0006g0308 a0005c0007t0006g0309 a0005c0007t0006g0310 a0010c0016t0006g0311 a0010c0016t0006g0312	15	346	0.0434	-33	c.26 others(44): Show c.2611_*2643delTGCCCTGTGTCCCGGGGCATGGTCCGTGTGGGC	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		2126		chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529430	TAATATAT others(26): Show TAATATATATTATATTATATATTATTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0006 a0001c0004 a0005c0006	a0001c0004t0007 a0005c0006t0007 a0005c0006t0013 a0001c0004t0007 a0005c0006t0007 a0005c0006t0013	a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 others(5): Show a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 a0005c0006t0013g0048 a0005c0006t0013g0049 a0005c0006t0013g0050	11	382	0.0288	-33	c.929 others(50): Show c.929-1137_929-1105delAATATATATTATATTATATATTATTATA TATAA	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11			chr16	TogoVar
CLUH_chr17_2684387_2716764	2691954	CCGCCACG others(26): Show CCGCCACGCCCCCGCCCCGCCCCCGCCCCCGCCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp2 others(13): Show HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01258.hp2 HG01346.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02738.hp2 HG02970.hp2 HG03579.hp1 HG04184.hp2 NA18943.hp1 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0010c0017	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0002 a0010c0017t0012	a0001c0001t0001g0008 a0001c0001t0001g0141 a0001c0001t0001g0146 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0242 a0001c0004t0001g0041 a0001c0004t0002g0050 a0001c0004t0003g0052 a0001c0007t0002g0332 a0010c0017t0012g0303	16	420	0.0381	-33	c.365 others(48): Show c.3654+17_3654+49delTGGCGGGGGCGGGGGCGGGGCGGGGGCGTG GCG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLYBL_chr13_99601690_99897570	99833006	ACATATAT others(26): Show ACATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	218	0.0046	-33	c.250 others(52): Show c.250-25854_250-25822delCATATATATATATATATATATATATT TTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CMC4_chrX_155056622_155076136	155057027	AGGTTGGC others(26): Show AGGTTGGCCTCATCCTGCTAGTATGAGAACGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG06807.hp2 HG02886.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	292	0.0069	-33	c.47 others(44): Show c.4783_*4815delAGCCGTTCTCATACTAGCAGGATGAGGCCAACC	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4594		chrX	TogoVar
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp1 NA18969.hp2 NA18522.hp2 NA18906.hp1 NA18969.hp2	a0020 a0042 a0020 a0042	a0020c0025 a0042c0029 a0020c0025 a0042c0029	a0020c0025t0001 a0042c0029t0001 a0020c0025t0001 a0042c0029t0001	a0020c0025t0001g0278 a0020c0025t0001g0309 a0042c0029t0001g0108 a0020c0025t0001g0278 a0020c0025t0001g0309 a0042c0029t0001g0108	3	358	0.0084	-33	c.106 others(54): Show c.10639-1759_10639-1727delCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNN2_chr19_1021608_1044065	1034729	AGCGTGGG others(26): Show AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01099.hp1 others(15): Show HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01261.hp1 HG01516.hp1 HG02071.hp2 HG02257.hp2 HG02300.hp2 HG02572.hp1 HG02738.hp2 HG02970.hp1 HG03041.hp2 HG03688.hp2 HG06807.hp2 NA18944.hp1 NA18947.hp2 NA19065.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 a0001c0002t0012 a0001c0016t0024	a0001c0001t0002g0007 a0001c0001t0009g0007 a0001c0001t0009g0141 others(11): Show a0001c0001t0002g0007 a0001c0001t0009g0007 a0001c0001t0009g0141 a0001c0001t0009g0171 a0001c0002t0004g0007 a0001c0002t0004g0018 a0001c0002t0004g0095 a0001c0002t0004g0209 a0001c0002t0004g0226 a0001c0002t0004g0237 a0001c0002t0004g0252 a0001c0002t0012g0221 a0001c0002t0012g0238 a0001c0016t0024g0094	18	390	0.0462	-33	c.391 others(50): Show c.391-1400_391-1368delGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGG	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNNM4_chr2_96755902_96816874	96813646	GCTTTTCT others(26): Show GCTTTTCTCTGGAACTGTTGTTTGTTAATGACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	270	0.0037	-33	c.41 others(44): Show c.4130_*4162delCTTTTCTCTGGAACTGTTGTTTGTTAATGACTT	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding		1773		chr2	TogoVar
CNOT4_chr7_135356795_135515102	135472503	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	362	0.0028	-33	c.-92 others(52): Show c.-92-34113_-92-34081delATATATATATATATATATATATTTTT TTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0057 a0001c0002t0004g0057	1	334	0.0030	-33	c.112 others(52): Show c.112+10187_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTLN_chr9_17130040_17508923	17491899	GAATATAC others(26): Show GAATATACTACTAGCCTGAAGGTTAACTGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02280.hp2 others(16): Show HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19011.hp1 NA20129.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0011 a0018 a0021	a0001c0001 a0001c0004 a0001c0014 others(9): Show a0001c0001 a0001c0004 a0001c0014 a0002c0006 a0002c0013 a0004c0003 a0006c0007 a0006c0043 a0007c0011 a0011c0015 a0018c0042 a0021c0054	a0001c0001t0002 a0001c0004t0002 a0001c0014t0002 others(9): Show a0001c0001t0002 a0001c0004t0002 a0001c0014t0002 a0002c0006t0002 a0002c0013t0002 a0004c0003t0002 a0006c0007t0002 a0006c0043t0002 a0007c0011t0002 a0011c0015t0002 a0018c0042t0002 a0021c0054t0002	a0001c0001t0002g0141 a0001c0004t0002g0002 a0001c0014t0002g0161 others(16): Show a0001c0001t0002g0141 a0001c0004t0002g0002 a0001c0014t0002g0161 a0001c0014t0002g0162 a0002c0006t0002g0032 a0002c0013t0002g0209 a0002c0013t0002g0210 a0004c0003t0002g0181 a0004c0003t0002g0188 a0006c0007t0002g0077 a0006c0007t0002g0085 a0006c0007t0002g0086 a0006c0043t0002g0081 a0007c0011t0002g0109 a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 a0018c0042t0002g0084 a0021c0054t0002g0016	19	218	0.0872	-33	c.411 others(52): Show c.4119+4834_4119+4866delAATATACTACTAGCCTGAAGGTTAAC TGAAAGT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	25/25			chr9	TogoVar
CNTN4_chr3_2093866_3062959	2287678	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01257.hp1 others(6): Show HG00642.hp2 HG01175.hp1 HG01257.hp1 HG01261.hp1 HG02132.hp1 HG02132.hp2 HG03041.hp2 HG03471.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0008c0026	a0001c0001t0001 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0010 a0001c0010t0003 a0008c0026t0017	a0001c0001t0001g0012 a0001c0002t0006g0071 a0001c0003t0001g0037 others(6): Show a0001c0001t0001g0012 a0001c0002t0006g0071 a0001c0003t0001g0037 a0001c0003t0002g0107 a0001c0004t0001g0106 a0001c0005t0010g0001 a0001c0005t0010g0085 a0001c0010t0003g0077 a0008c0026t0017g0047	9	116	0.0776	-33	c.-14 others(54): Show c.-144-51485_-144-51453delGGAAGAAGAAGAAGAAGAGGAAGA AGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp2 HG02647.hp1 others(1): Show HG01361.hp1 HG02257.hp2 HG02647.hp1 HG03831.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0004c0011t0003	a0001c0001t0001g0059 a0001c0001t0008g0089 a0001c0002t0002g0078 others(1): Show a0001c0001t0001g0059 a0001c0001t0008g0089 a0001c0002t0002g0078 a0004c0011t0003g0065	4	116	0.0345	-33	c.-14 others(54): Show c.-144-51467_-144-51435delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287711	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG01258.hp1 others(4): Show HG00639.hp2 HG01257.hp2 HG01258.hp1 HG01978.hp1 HG02165.hp2 HG02486.hp2 HG03239.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0007c0018	a0001c0001t0005 a0001c0003t0002 a0001c0003t0011 others(4): Show a0001c0001t0005 a0001c0003t0002 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0007c0018t0003	a0001c0001t0005g0098 a0001c0003t0002g0061 a0001c0003t0011g0113 others(4): Show a0001c0001t0005g0098 a0001c0003t0002g0061 a0001c0003t0011g0113 a0001c0004t0001g0097 a0001c0004t0002g0064 a0001c0004t0006g0044 a0007c0018t0003g0062	7	116	0.0603	-33	c.-14 others(54): Show c.-144-51432_-144-51400delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311131	ATGTATAT others(26): Show ATGTATATATAAAATGTCTTTATATATACATAGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02074.hp1 HG03669.hp1 HG00733.hp2 HG02074.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0084 a0001c0002t0001g0098 a0001c0009t0001g0114 a0001c0002t0001g0084 a0001c0002t0001g0098 a0001c0009t0001g0114	3	232	0.0129	-33	c.762 others(52): Show c.762-10491_762-10459delCATAGGTGTATATATAAAATGTCTTT ATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311324	ATACATAT others(26): Show ATACATATATGTACATATAAAATGTCTTTATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01167.hp2 others(10): Show HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG02055.hp1 HG02258.hp1 HG02622.hp2 HG03130.hp2 HG03453.hp2 HG04204.hp2 NA18522.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0001c0019 a0001c0022 a0001c0025 a0003c0015	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0013t0001 a0001c0019t0001 a0001c0022t0001 a0001c0025t0001 a0003c0015t0001	a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0004t0001g0061 others(10): Show a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0004t0001g0061 a0001c0006t0001g0184 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0002g0178 a0001c0013t0001g0199 a0001c0019t0001g0202 a0001c0022t0001g0137 a0001c0025t0001g0192 a0003c0015t0001g0007 a0003c0015t0001g0008	13	232	0.0560	-33	c.762 others(52): Show c.762-10140_762-10108delATGTCTTTATATGTACATATATGTAC ATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147832155	AATTTAAT others(26): Show AATTTAATTATATAAACATTTAATTAAATTATAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01891.hp2 others(21): Show HG00735.hp1 HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0019	a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 others(16): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0003t0011 a0001c0004t0003 a0001c0004t0005 a0001c0005t0008 a0001c0005t0022 a0001c0006t0014 a0001c0011t0016 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001 a0001c0019t0006	a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 others(21): Show a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0006t0014g0033 a0001c0011t0016g0019 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0019t0006g0015	24	40	0.6000	-33	c.209 others(54): Show c.2099-71330_2099-71298delAACATTTAATTAAATTATACATTT AATTATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL13A1_chr10_69796906_69964144	69936145	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03540.hp1 NA18964.hp1 others(1): Show HG01071.hp2 HG03540.hp1 NA18964.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0096 a0001c0002t0001g0178 a0001c0002t0001g0291 others(1): Show a0001c0001t0001g0096 a0001c0002t0001g0178 a0001c0002t0001g0291 a0001c0002t0003g0255	4	324	0.0124	-33	c.177 others(50): Show c.1771-604_1771-572delGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45405086	CCCCGCCC others(26): Show CCCCGCCCCCTGCCCGGCCCCTGCCCGGCCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00735.hp2 others(31): Show HG00140.hp2 HG00423.hp2 HG00735.hp2 HG01070.hp2 HG01106.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02132.hp1 HG02155.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG03017.hp2 HG03239.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 NA18952.hp1 NA18975.hp2 NA18998.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19070.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0009 a0029 a0032 a0034 a0035	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0035 a0001c0090 a0002c0012 a0003c0009 a0003c0010 a0006c0026 a0009c0016 a0029c0071 a0032c0052 a0034c0075 a0035c0078	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0004t0001 a0001c0006t0003 a0001c0007t0002 a0001c0035t0001 a0001c0090t0002 a0002c0012t0004 a0003c0009t0001 a0003c0010t0006 a0006c0026t0001 a0009c0016t0001 a0029c0071t0002 a0032c0052t0002 a0034c0075t0001 a0035c0078t0001	a0001c0001t0001g0093 a0001c0001t0013g0276 a0001c0002t0001g0080 others(31): Show a0001c0001t0001g0093 a0001c0001t0013g0276 a0001c0002t0001g0080 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0137 a0001c0002t0012g0109 a0001c0003t0001g0043 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0006t0003g0079 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0007t0002g0078 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0090t0002g0089 a0002c0012t0004g0058 a0003c0009t0001g0167 a0003c0010t0006g0014 a0006c0026t0001g0083 a0009c0016t0001g0084 a0029c0071t0002g0134 a0032c0052t0002g0077 a0034c0075t0001g0116 a0035c0078t0001g0115	34	292	0.1164	-33	c.-14 others(42): Show c.-144_-112delCCCGCCCCCTGCCCGGCCCCTGCCCGGCCCCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		78		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45442946	CAGCGGTG others(26): Show CAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02717.hp1 others(2): Show HG02258.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 NA21309.hp1	a0011 a0018 a0020 a0011 a0018 a0020	a0011c0040 a0011c0104 a0018c0095 others(1): Show a0011c0040 a0011c0104 a0018c0095 a0020c0094	a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 others(1): Show a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 a0020c0094t0011	a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 others(2): Show a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0018c0095t0001g0146 a0020c0094t0011g0075	5	292	0.0171	-33	c.107 others(52): Show c.107-25295_107-25263delAGCGGTGCTGATGTGGGTGGTGGTGC TGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484198	CACACACA others(26): Show CACACACATAGGCACACACATCTCCAGCATATGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG06807.hp2 HG02559.hp2 HG03098.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0057 a0001c0001 a0004c0057	a0001c0001t0001 a0004c0057t0002 a0001c0001t0001 a0004c0057t0002	a0001c0001t0001g0033 a0001c0001t0001g0192 a0004c0057t0002g0035 a0001c0001t0001g0033 a0001c0001t0001g0192 a0004c0057t0002g0035	3	292	0.0103	-33	c.170 others(52): Show c.1701+1378_1701+1410delACACACATAGGCACACACATCTCCAG CATATGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490016	ACACCCTC others(26): Show ACACCCTCCCCCACTTCCCCGTCCCCCACACCTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02129.hp2 others(2): Show HG00438.hp1 HG00597.hp2 HG02129.hp2 HG02717.hp1 NA21309.hp1	a0001 a0018 a0020 a0001 a0018 a0020	a0001c0007 a0001c0025 a0018c0095 others(1): Show a0001c0007 a0001c0025 a0018c0095 a0020c0094	a0001c0007t0002 a0001c0025t0002 a0018c0095t0001 others(1): Show a0001c0007t0002 a0001c0025t0002 a0018c0095t0001 a0020c0094t0011	a0001c0007t0002g0161 a0001c0025t0002g0159 a0001c0025t0002g0164 others(2): Show a0001c0007t0002g0161 a0001c0025t0002g0159 a0001c0025t0002g0164 a0018c0095t0001g0146 a0020c0094t0011g0075	5	292	0.0171	-33	c.196 others(50): Show c.1960-257_1960-225delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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