Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL5A1_chr9_134636803_134849843	134847420	GGTGTGCC others(14): Show GGTGTGCCTGTGTGGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02109.hp2 HG02622.hp1	a0001 a0001	a0001c0049 a0001c0065 a0001c0049 a0001c0065	a0001c0049t0003 a0001c0065t0003 a0001c0049t0003 a0001c0065t0003	a0001c0049t0003g0183 a0001c0065t0003g0009 a0001c0049t0003g0183 a0001c0065t0003g0009	2	272	0.0074	-21	c.51 others(32): Show c.5118_*5138delGTGTGCCTGTGTGGTGTGTGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2578		chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(54): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01515.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0003 a0010 a0011 others(15): Show a0003 a0010 a0011 a0012 a0018 a0020 a0021 a0022 a0023 a0029 a0034 a0036 a0044 a0049 a0053 a0059 a0065 a0072	a0003c0009 a0003c0011 a0003c0136 others(23): Show a0003c0009 a0003c0011 a0003c0136 a0010c0015 a0010c0119 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0018c0018 a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0023c0027 a0029c0088 a0034c0078 a0034c0131 a0036c0073 a0036c0102 a0044c0062 a0049c0079 a0053c0129 a0059c0090 a0065c0103 a0072c0093	a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 others(31): Show a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0136t0009 a0010c0015t0002 a0010c0119t0002 a0011c0006t0003 a0011c0006t0006 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0003 a0012c0077t0001 a0018c0018t0006 a0018c0018t0009 a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0023c0027t0002 a0029c0088t0002 a0034c0078t0001 a0034c0131t0001 a0036c0073t0006 a0036c0102t0003 a0044c0062t0003 a0049c0079t0003 a0053c0129t0006 a0059c0090t0003 a0065c0103t0003 a0072c0093t0001	a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 others(53): Show a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0385 a0003c0009t0003g0395 a0003c0011t0003g0057 a0003c0011t0003g0138 a0003c0011t0003g0142 a0003c0011t0006g0212 a0003c0011t0006g0214 a0003c0011t0006g0341 a0003c0011t0009g0280 a0003c0011t0009g0281 a0003c0136t0009g0066 a0010c0015t0002g0247 a0010c0119t0002g0397 a0011c0006t0003g0132 a0011c0006t0003g0174 a0011c0006t0003g0175 a0011c0006t0003g0186 a0011c0006t0003g0188 a0011c0006t0006g0181 a0011c0006t0006g0189 a0011c0006t0006g0194 a0011c0006t0016g0171 a0011c0006t0018g0056 a0012c0017t0001g0120 a0012c0017t0001g0141 a0012c0017t0001g0143 a0012c0017t0002g0270 a0012c0025t0001g0151 a0012c0025t0003g0394 a0012c0077t0001g0113 a0018c0018t0006g0009 a0018c0018t0009g0019 a0018c0018t0009g0020 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0294 a0023c0027t0002g0198 a0029c0088t0002g0255 a0034c0078t0001g0389 a0034c0131t0001g0292 a0036c0073t0006g0164 a0036c0102t0003g0226 a0044c0062t0003g0191 a0049c0079t0003g0338 a0053c0129t0006g0058 a0059c0090t0003g0126 a0065c0103t0003g0224 a0072c0093t0001g0282	57	412	0.1384	-21	c.478 others(40): Show c.4782+1439_4782+1459delTTTTTTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL6A2_chr21_46093112_46137848	46135444	TCATGGTC others(14): Show TCATGGTCCTAACACCAATGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0260 a0001c0015t0002g0260	1	364	0.0028	-21	c.28 others(32): Show c.2893_*2913delCATGGTCCTAACACCAATGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2597		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237345475	ATGTAAAG others(14): Show ATGTAAAGCCCACGAGTGAACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01358.hp1 others(23): Show HG01081.hp1 HG01255.hp2 HG01358.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp1 HG04115.hp1	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0013 a0020 a0057	a0003c0031 a0003c0039 a0003c0121 others(11): Show a0003c0031 a0003c0039 a0003c0121 a0004c0071 a0005c0008 a0005c0012 a0005c0090 a0005c0101 a0005c0111 a0013c0034 a0013c0053 a0013c0097 a0020c0127 a0057c0099	a0003c0031t0004 a0003c0039t0001 a0003c0121t0003 others(15): Show a0003c0031t0004 a0003c0039t0001 a0003c0121t0003 a0004c0071t0004 a0005c0008t0001 a0005c0008t0004 a0005c0008t0005 a0005c0012t0002 a0005c0012t0003 a0005c0012t0004 a0005c0090t0003 a0005c0101t0003 a0005c0111t0003 a0013c0034t0005 a0013c0053t0004 a0013c0097t0002 a0020c0127t0004 a0057c0099t0004	a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 others(23): Show a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 a0003c0121t0003g0191 a0004c0071t0004g0178 a0005c0008t0001g0086 a0005c0008t0004g0133 a0005c0008t0005g0083 a0005c0008t0005g0098 a0005c0008t0005g0100 a0005c0008t0005g0180 a0005c0008t0005g0181 a0005c0012t0002g0300 a0005c0012t0003g0132 a0005c0012t0003g0142 a0005c0012t0004g0117 a0005c0012t0004g0144 a0005c0090t0003g0122 a0005c0101t0003g0238 a0005c0111t0003g0118 a0013c0034t0005g0102 a0013c0034t0005g0103 a0013c0053t0004g0093 a0013c0097t0002g0107 a0020c0127t0004g0211 a0057c0099t0004g0152	26	322	0.0808	-21	c.709 others(38): Show c.7093-283_7093-263delGGTTCACTCGTGGGCTTTACA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	32/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362312	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01071.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01261.hp1 HG01515.hp2	a0001 a0006 a0048 a0001 a0006 a0048	a0001c0001 a0006c0005 a0048c0099 a0001c0001 a0006c0005 a0048c0099	a0001c0001t0002 a0006c0005t0002 a0048c0099t0002 a0001c0001t0002 a0006c0005t0002 a0048c0099t0002	a0001c0001t0002g0010 a0001c0001t0002g0256 a0006c0005t0002g0228 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0256 a0006c0005t0002g0228 a0048c0099t0002g0229	5	292	0.0171	-21	c.-28 others(40): Show c.-28-11297_-28-11277delATATATATATATATTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02145.hp2 NA18906.hp2 others(1): Show HG00280.hp1 HG02145.hp2 NA18906.hp2 NA19083.hp2	a0003 a0004 a0011 others(1): Show a0003 a0004 a0011 a0017	a0003c0013 a0004c0004 a0011c0008 others(1): Show a0003c0013 a0004c0004 a0011c0008 a0017c0019	a0003c0013t0014 a0004c0004t0009 a0011c0008t0001 others(1): Show a0003c0013t0014 a0004c0004t0009 a0011c0008t0001 a0017c0019t0003	a0003c0013t0014g0031 a0004c0004t0009g0254 a0011c0008t0001g0187 others(1): Show a0003c0013t0014g0031 a0004c0004t0009g0254 a0011c0008t0001g0187 a0017c0019t0003g0127	4	264	0.0152	-21	c.421 others(38): Show c.4219-746_4219-726delATATATTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590295	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0008 a0005c0003t0008	a0005c0003t0008g0184 a0005c0003t0008g0184	1	264	0.0038	-21	c.421 others(38): Show c.4219-744_4219-724delATATTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590297	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0039 a0039	a0039c0064 a0039c0064	a0039c0064t0005 a0039c0064t0005	a0039c0064t0005g0085 a0039c0064t0005g0085	1	264	0.0038	-21	c.421 others(38): Show c.4219-742_4219-722delATTTTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0010 a0005c0003t0010	a0005c0003t0010g0246 a0005c0003t0010g0246	1	264	0.0038	-21	c.421 others(38): Show c.4219-732_4219-712delTTTTTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40321124	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01943.hp1 others(6): Show HG00099.hp1 HG01106.hp2 HG01943.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02965.hp1 HG04199.hp1 NA20752.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0017 a0001c0001 a0013c0017	a0001c0001t0001 a0013c0017t0001 a0001c0001t0001 a0013c0017t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0193 a0013c0017t0001g0170	9	438	0.0206	-21	c.-39 others(32): Show c.-3948_-3928delTATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3839		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069620	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	388	0.0026	-21	c.148 others(38): Show c.148+2193_148+2213delAAAAAAAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COMMD1_chr2_61900674_62141058	62014542	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02896.hp2 others(7): Show HG01243.hp1 HG02109.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 others(7): Show a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0003g0261	10	286	0.0350	-21	c.462 others(40): Show c.462+13577_462+13597delTTTTTTTTTTTTTTTTTTTTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32704996	CAGATAGT others(14): Show CAGATAGTGGGGAGGGTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	400	0.0025	-21	c.337 others(35): Show c.337-113_337-93delTCTGCACCCTCCCCACTATCT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMT_chr22_19936772_19974975	19950657	CGGGGATC others(14): Show CGGGGATCCACAGGTGGAGGAG	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	426	0.0024	-21	c.-92 others(38): Show c.-92+8762_-92+8782delGGGATCCACAGGTGGAGGAGG	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COMT_chr22_19936772_19974975	19952981	TAAATAAA others(14): Show TAAATAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19079.hp2 HG02135.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0119 a0002c0001t0001g0330 a0001c0002t0001g0119 a0002c0001t0001g0330	2	426	0.0047	-21	c.-91 others(38): Show c.-91-8215_-91-8195delATAAATAAATAAATAAATAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COPG2_chr7_130501238_130673748	130613390	ACCCCTGC others(14): Show ACCCCTGCTCTAGATAAAACAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG01993.hp1 others(7): Show HG01192.hp2 HG01433.hp2 HG01993.hp1 HG02486.hp1 HG02809.hp1 HG02818.hp1 HG02976.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0002c0003t0001	a0001c0002t0001g0241 a0001c0002t0007g0235 a0001c0002t0007g0236 others(7): Show a0001c0002t0001g0241 a0001c0002t0007g0235 a0001c0002t0007g0236 a0001c0002t0007g0237 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0011g0240 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244	10	326	0.0307	-21	c.492 others(36): Show c.492+133_492+153delGTGTTTTATCTAGAGCAGGGG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	7/23			chr7	TogoVar
COPS5_chr8_67038079_67067133	67056649	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04228.hp2 NA18985.hp1 HG02027.hp1 HG04228.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0057 a0001c0001t0001g0153 a0001c0001t0001g0154	3	292	0.0103	-21	c.574 others(34): Show c.574-66_574-46delATATATATATATATATATTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056651	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 NA18955.hp2 others(2): Show HG02015.hp2 HG02083.hp2 NA18955.hp2 NA18963.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0160 a0001c0001t0001g0161	5	292	0.0171	-21	c.574 others(34): Show c.574-68_574-48delATATATATATATATATATATT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00642.hp1 others(5): Show HG00140.hp1 HG00597.hp1 HG00642.hp1 HG00741.hp2 HG02572.hp2 HG03834.hp1 NA18939.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0090 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0237 a0001c0004t0001g0133	8	292	0.0274	-21	c.574 others(34): Show c.574-70_574-50delATATATATATATATATATATA	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COQ3_chr6_99364401_99399195	99378139	TATATATA others(14): Show TATATATATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	434	0.0023	-21	c.387 others(36): Show c.387-675_387-655delTAAATATATATATATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ5_chr12_120498279_120534158	120513838	TTATTAAA others(14): Show TTATTAAATAATTTCTAGGGTC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	388	0.0026	-21	c.574 others(38): Show c.574+2708_574+2728delGACCCTAGAAATTATTTAATA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	3/6			chr12	TogoVar
COQ8B_chr19_40686530_40721886	40716922	AGGCTCCG others(14): Show AGGCTCCGTCTCGTTCCGTTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	410	0.0024	-21	c.-36 others(30): Show c.-360_-340delGGAACGGAACGAGACGGAGCC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding		37		chr19	TogoVar
CORIN_chr4_47589001_47843067	47735890	CACTCCAG others(14): Show CACTCCAGCCTGGGCGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	264	0.0038	-21	c.799 others(38): Show c.799+8491_799+8511delCTCTGTCGCCCAGGCTGGAGT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	5/21			chr4	TogoVar
CORO2B_chr15_68573993_68732806	68650355	CTAAAAAA others(14): Show CTAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01106.hp1 others(12): Show HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01433.hp2 HG02015.hp2 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04184.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0105 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0095 a0001c0001t0003g0084 a0001c0001t0003g0152 a0001c0001t0005g0029 a0001c0001t0006g0011 a0001c0001t0015g0222 a0001c0002t0002g0161	15	256	0.0586	-21	c.216 others(38): Show c.216+4996_216+5016delTAAAAAAAAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11			chr15	TogoVar
CORO7_chr16_4349542_4421596	4360684	GCCTCTCC others(14): Show GCCTCTCCTCACTGCTGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0187	1	297	0.0034	-21	c.191 others(38): Show c.1918-157_1918-137delGGGGCCAGCAGTGAGGAGAGG	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	19/27			chr16	TogoVar
COX17_chr3_119664532_119682406	119677071	AAGAGGGC others(14): Show AAGAGGGCAGAGGGCAGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(48): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG03491.hp1 HG03492.hp2 HG06807.hp1 NA18940.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19058.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	51	420	0.1214	-21	c.107 others(36): Show c.107+112_107+132delGCCTTCTGCCCTCTGCCCTCT	COX17	ENSG00000138495.7	transcript	ENST00000261070.7	protein_coding	1/2			chr3	TogoVar
CPA3_chr3_148860296_148902203	148899547	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(178): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0002 a0002c0002t0001 a0006c0006t0002 a0008c0009t0002	a0001c0001t0001g0087 a0001c0001t0002g0001 a0001c0001t0002g0002 others(101): Show a0001c0001t0001g0087 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0004g0002 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0010t0002g0012 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0052 a0002c0002t0001g0085 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0230 a0006c0006t0002g0024 a0008c0009t0002g0022	181	400	0.4525	-21	c.28 others(32): Show c.2841_*2861delAAAAAAAAAAAAAAAAAAAAA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding		2345		chr3	TogoVar
CPA6_chr8_67417038_67751360	67475805	CTTTCTTT others(14): Show CTTTCTTTCTTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02056.hp1 HG02056.hp2 others(6): Show HG01074.hp2 HG02056.hp1 HG02056.hp2 HG02451.hp2 HG02698.hp2 HG02896.hp1 HG03209.hp1 HG03491.hp1 NA18612.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0041 a0002c0002t0001g0019 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0041 a0002c0002t0001g0019 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0101 a0002c0002t0001g0103 a0003c0003t0001g0047 a0005c0004t0001g0090	9	144	0.0625	-21	c.838 others(38): Show c.838+7942_838+7962delAAAAGAAAGGAAAGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475809	CTTTCTTT others(14): Show CTTTCTTTCCTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	144	0.0139	-21	c.838 others(38): Show c.838+7938_838+7958delAAAGAAAAGAAAGGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02109.hp1 HG02965.hp2 others(6): Show HG00423.hp1 HG02109.hp1 HG02965.hp2 HG03688.hp2 HG06807.hp1 NA18964.hp1 NA18991.hp1 NA18991.hp2 NA19077.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0086 a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0054 a0002c0002t0001g0058 a0004c0005t0001g0060	9	144	0.0625	-21	c.192 others(40): Show c.192+16986_192+17006delAGAAGAAGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16987166	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02809.hp1 others(2): Show HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG03516.hp1	a0016 a0028 a0108 others(1): Show a0016 a0028 a0108 a0109	a0016c0185 a0028c0181 a0028c0182 others(2): Show a0016c0185 a0028c0181 a0028c0182 a0108c0183 a0109c0184	a0016c0185t0001 a0028c0181t0002 a0028c0182t0001 others(2): Show a0016c0185t0001 a0028c0181t0002 a0028c0182t0001 a0108c0183t0001 a0109c0184t0001	a0016c0185t0001g0058 a0028c0181t0002g0060 a0028c0182t0001g0062 others(2): Show a0016c0185t0001g0058 a0028c0181t0002g0060 a0028c0182t0001g0062 a0108c0183t0001g0056 a0109c0184t0001g0057	5	278	0.0180	-21	c.139 others(40): Show c.1395+2456_1395+2476delATATATATTTTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPEB1_chr15_82538201_82652363	82579918	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0313 a0001c0001t0011g0313	1	354	0.0028	-21	c.272 others(38): Show c.272-8407_272-8387delTTTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92095336	CTGCAGAA others(14): Show CTGCAGAATTAATCAACATAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	278	0.0036	-21	c.157 others(40): Show c.1573-3413_1573-3393delTCTATGTTGATTAATTCTGCA	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92258628	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01099.hp1 others(10): Show HG00140.hp2 HG00735.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp1 HG02155.hp2 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0032 a0001c0001t0045 a0003c0006t0002	a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0237 others(10): Show a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0006g0222 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0012g0224 a0001c0001t0032g0239 a0001c0001t0045g0277 a0003c0006t0002g0236	13	278	0.0468	-21	c.-11 others(40): Show c.-11-18288_-11-18268delATATATATATATATATATATA	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0050	1	140	0.0071	-21	c.540 others(36): Show c.540+704_540+724delCTTCTTCTTCTTCTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX4_chr18_59290402_59323649	59291786	ATTGTCCT others(14): Show ATTGTCCTTTTTGTGTATTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(162): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0002c0003t0030	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(122): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0015 a0001c0001t0003g0005 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0132 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0164 a0001c0001t0003g0172 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0009g0006 a0001c0001t0009g0038 a0001c0001t0009g0119 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0016g0270 a0001c0001t0016g0271 a0001c0001t0016g0295 a0001c0001t0016g0298 a0001c0001t0017g0288 a0001c0001t0017g0289 a0001c0001t0017g0291 a0001c0001t0017g0296 a0001c0001t0025g0059 a0001c0001t0028g0074 a0001c0001t0032g0167 a0001c0001t0033g0154 a0001c0001t0035g0112 a0001c0001t0036g0148 a0001c0001t0037g0222 a0001c0001t0038g0150 a0002c0003t0030g0166	165	418	0.3947	-21	c.48 others(32): Show c.4891_*4911delAGCAATACACAAAAAGGACAA	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding		3615		chr18	TogoVar
CPLX4_chr18_59290402_59323649	59323561	GGTAATAA others(14): Show GGTAATAACTGTATTCTATTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03516.hp1 others(1): Show HG02258.hp1 HG03139.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 others(1): Show a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0004g0255	4	418	0.0096	-21	c.-51 others(32): Show c.-5120_-5100delGGAATAGAATACAGTTATTAC	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding		4913		chr18	TogoVar
CPM_chr12_68846175_68938171	68853448	TAATTGGT others(14): Show TAATTGGTTTAAATAAGCCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG02723.hp1 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0021 a0002c0005t0021	a0002c0005t0021g0331 a0002c0005t0021g0333 a0002c0005t0021g0331 a0002c0005t0021g0333	2	340	0.0059	-21	c.29 others(32): Show c.2968_*2988delGGAGGCTTATTTAAACCAATT	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	9/9	2968		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86552463	TAATTAGC others(14): Show TAATTAGCTTTCATTTATTGTA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	340	0.0029	-21	c.112 others(40): Show c.1120+1233_1120+1253delTAGCTTTCATTTATTGTAAAT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131547455	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02559.hp1 others(4): Show HG02258.hp2 HG02486.hp2 HG02559.hp1 HG03041.hp2 HG03516.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0002g0069 a0001c0003t0001g0019 a0001c0003t0003g0045	7	94	0.0745	-21	c.130 others(40): Show c.1302+2471_1302+2491delTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89570832	GAGGTGAG others(14): Show GAGGTGAGCGGGGCACGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00642.hp2 others(20): Show HG00597.hp1 HG00609.hp2 HG00642.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp2 HG03927.hp1 NA18941.hp1 NA18942.hp2 NA18952.hp1 NA18959.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0002c0003 a0002c0010 others(2): Show a0001c0002 a0002c0003 a0002c0010 a0002c0017 a0011c0016	a0001c0002t0003 a0001c0002t0007 a0002c0003t0002 others(4): Show a0001c0002t0003 a0001c0002t0007 a0002c0003t0002 a0002c0003t0003 a0002c0010t0008 a0002c0017t0003 a0011c0016t0003	a0001c0002t0003g0211 a0001c0002t0007g0234 a0002c0003t0002g0153 others(20): Show a0001c0002t0003g0211 a0001c0002t0007g0234 a0002c0003t0002g0153 a0002c0003t0003g0111 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0122 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0135 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0152 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0010t0008g0127 a0002c0017t0003g0136 a0011c0016t0003g0112	23	348	0.0661	-21	c.-50 others(32): Show c.-5065_-5045delAGGTGAGCGGGGCACGGGAGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4925		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89570966	GACGGGAG others(14): Show GACGGGAGGAGGTGAGCGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	348	0.0029	-21	c.-49 others(32): Show c.-4931_-4911delACGGGAGGAGGTGAGCGGGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4791		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571207	CGGGCACG others(14): Show CGGGCACGGGAGGAGGTGAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	348	0.0029	-21	c.-46 others(32): Show c.-4690_-4670delGGGCACGGGAGGAGGTGAGCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4550		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89580420	ATCACCCA others(14): Show ATCACCCATCACACAGAACATC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	348	0.0029	-21	c.357 others(38): Show c.357+2713_357+2733delAGAACATCTCACCCATCACAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89580556	ATCACCCA others(14): Show ATCACCCATCACACGGAACATC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0194 a0001c0002t0013g0194	1	348	0.0029	-21	c.357 others(38): Show c.357+2857_357+2877delTCACCCATCACACGGAACATC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587135	TCAGTCCG others(14): Show TCAGTCCGTGGCCCCGCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 NA19030.hp2 HG02145.hp1 HG02257.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0002 a0001c0002t0013 a0001c0025t0001 a0001c0002t0002 a0001c0002t0013 a0001c0025t0001	a0001c0002t0002g0023 a0001c0002t0013g0194 a0001c0025t0001g0276 a0001c0002t0002g0023 a0001c0002t0013g0194 a0001c0025t0001g0276	3	348	0.0086	-21	c.927 others(34): Show c.927+35_927+55delAGTCCGTGGCCCCGCCCCGCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38783156	AATCCTTC others(14): Show AATCCTTCACAAAATTTAGGAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	342	0.0029	-21	c.408 others(38): Show c.408-6876_408-6856delGTCCTAAATTTTGTGAAGGAT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96647918	AAGCAGTG others(14): Show AAGCAGTGTTGTTTCTTGGACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	126	0.0079	-21	c.-35 others(38): Show c.-35+2520_-35+2540delAGTGTTGTTTCTTGGACTAGC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96777742	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	126	0.0079	-21	c.-34 others(38): Show c.-34-7120_-34-7100delATATATATATATATATATTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96777744	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01081.hp1 others(25): Show HG00099.hp1 HG00099.hp2 HG01081.hp1 HG01255.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG02040.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03453.hp2 HG03516.hp2 HG03927.hp2 NA18949.hp1 NA18962.hp2 NA18979.hp2 NA18990.hp2 NA19005.hp1 NA19009.hp2 NA19066.hp2 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0007c0009t0001 a0001c0001t0001 a0001c0001t0002 a0007c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(25): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0100 a0007c0009t0001g0062	28	126	0.2222	-21	c.-34 others(38): Show c.-34-7118_-34-7098delATATATATATATATATTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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