Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC47_chr17_63740255_63778597	63763637	AACATGGT others(83): Show AACATGGTGAAACCCCGACTCTACTAAAAATACAAAAATGAGCAGGGCAT GGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0055	3	352	0.0085	-90	c.547 others(105): Show c.547+289_547+378delCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGTGCACCACCATGCCCTGCTCATTTTTGTATTTTTAGTAGAGTCGGGGT TTCACCATGT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	4/12			chr17	TogoVar
CCDC66_chr3_56552175_56626837	56583890	CCCACCTC others(83): Show CCCACCTCCCGGATGGGGCGGCGGCTGGGCGGGGGCTGCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02897.hp1 others(5): Show HG02451.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0003 a0001c0008t0002 a0001c0008t0003	a0001c0008t0002g0318 a0001c0008t0003g0097 a0001c0008t0003g0098 others(5): Show a0001c0008t0002g0318 a0001c0008t0003g0097 a0001c0008t0003g0098 a0001c0008t0003g0099 a0001c0008t0003g0100 a0001c0008t0003g0317 a0001c0008t0003g0319 a0001c0008t0003g0320	8	372	0.0215	-90	c.937 others(107): Show c.937-9077_937-8988delACCTCCCGGATGGGGCGGCGGCTGGGCG GGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG CTGCCCCCCACC	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDCP1_chr3_45077277_45151378	45108841	ATGCATGT others(83): Show ATGCATGTATACATATATATGCATGTATATATATATATGCATGTATACAT ATATATATATATGCATGTATACATATATATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0012 a0002c0002t0014g0012	1	384	0.0026	-90	c.102 others(109): Show c.1024+1542_1024+1631delCATGCATATATATATATATGTATACA TGCATATATATATATATGTATACATGCATATATATATATACATGCATATA TATGTATACATGCA	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH23_chr10_71391920_71820947	71760157	ATATGTAT others(83): Show ATATGTATATACATATATATGTGTGTATATATATGTATATACATATATAT GTGTGTATATATGTGTATATATATGTATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01255.hp1 others(22): Show HG00621.hp1 HG01069.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG02165.hp1 HG02257.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG03130.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA19005.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(11): Show a0001 a0004 a0005 a0007 a0008 a0011 a0017 a0029 a0034 a0035 a0043 a0052 a0087 a0104	a0001c0001 a0001c0064 a0001c0102 others(19): Show a0001c0001 a0001c0064 a0001c0102 a0001c0127 a0004c0037 a0005c0003 a0005c0105 a0007c0005 a0007c0114 a0008c0068 a0008c0076 a0008c0123 a0011c0024 a0011c0033 a0017c0121 a0029c0119 a0034c0097 a0035c0130 a0043c0141 a0052c0160 a0087c0104 a0104c0131	a0001c0001t0003 a0001c0064t0012 a0001c0102t0001 others(20): Show a0001c0001t0003 a0001c0064t0012 a0001c0102t0001 a0001c0127t0001 a0004c0037t0005 a0005c0003t0001 a0005c0003t0002 a0005c0105t0002 a0007c0005t0001 a0007c0114t0001 a0008c0068t0035 a0008c0076t0017 a0008c0123t0017 a0011c0024t0014 a0011c0033t0014 a0017c0121t0005 a0029c0119t0010 a0034c0097t0007 a0035c0130t0001 a0043c0141t0008 a0052c0160t0001 a0087c0104t0010 a0104c0131t0001	a0001c0001t0003g0090 a0001c0064t0012g0040 a0001c0102t0001g0192 others(22): Show a0001c0001t0003g0090 a0001c0064t0012g0040 a0001c0102t0001g0192 a0001c0127t0001g0146 a0004c0037t0005g0155 a0005c0003t0001g0119 a0005c0003t0002g0062 a0005c0105t0002g0074 a0007c0005t0001g0127 a0007c0005t0001g0128 a0007c0005t0001g0129 a0007c0114t0001g0125 a0008c0068t0035g0107 a0008c0076t0017g0112 a0008c0123t0017g0111 a0011c0024t0014g0066 a0011c0033t0014g0094 a0017c0121t0005g0106 a0029c0119t0010g0007 a0034c0097t0007g0186 a0035c0130t0001g0100 a0043c0141t0008g0017 a0052c0160t0001g0141 a0087c0104t0010g0003 a0104c0131t0001g0150	25	196	0.1276	-90	c.484 others(111): Show c.4846-17512_4846-17423delCATATATATGTGTGTATATATATG TATATACATATATATGTGTGTATATATGTGTATATATATGTATATACATA TATATGTATGTATATA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61945527	GGAGCACT others(83): Show GGAGCACTGCAACCATCTGCACCGTGGCCGCCCCTTCTCACCGATGATGA GGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0053 a0003c0017t0002g0053	1	106	0.0094	-90	c.85 others(101): Show c.8585_*8674delGAGCACTGCAACCATCTGCACCGTGGCCGCCCCT TCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCT TCTCAC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4911		chr20	TogoVar
CDH5_chr16_66361691_66409784	66379883	ATGGTGGT others(83): Show ATGGTGGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01069.hp1 others(4): Show HG00438.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG03491.hp2 HG03710.hp2 HG03834.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0007c0017t0001	a0001c0001t0001g0136 a0001c0001t0001g0323 a0001c0002t0001g0292 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0323 a0001c0002t0001g0292 a0001c0004t0001g0014 a0001c0004t0001g0209 a0007c0017t0001g0129	7	404	0.0173	-90	c.210 others(105): Show c.210+381_210+470delTTGGTGGTGATCACGGTGATGGTGGTGATG ATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGTGATGATAAA GGGGTAGGTG	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66379941	CGGTGATG others(83): Show CGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTG ATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00597.hp2 others(16): Show HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01069.hp2 HG01123.hp2 HG01255.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 NA18612.hp1 NA18964.hp1 NA18969.hp1 NA18974.hp1 NA18978.hp1 NA18985.hp2 NA18994.hp1 NA19056.hp1 NA19076.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0011 a0002c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0096 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0314 a0001c0001t0002g0097 a0001c0002t0001g0153 a0001c0004t0011g0293 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0221 a0002c0003t0002g0305 a0002c0003t0002g0340	19	404	0.0470	-90	c.210 others(105): Show c.210+606_210+695delTTGGTGGTGATCACGGTGATGGTGGTGATG ATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGATGATAAA GGGGTAGGTG	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDKN2A_chr9_21962752_21999392	21981072	GTGTATAT others(83): Show GTGTATATATATATATACGTGTATATATATACGTGTATATATATATATAC GTGTATATATATATATACGTGTATATATATATATACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	404	0.0025	-90	c.194 others(107): Show c.194-9954_194-9865delTACACGTATATATATATATACACGTATA TATATATATACACGTATATATATATATACACGTATATATATACACGTATA TATATATATACA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CENPF_chr1_214598195_214669571	214622654	GGATCGTA others(83): Show GGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGG ATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00673.hp1 others(104): Show HG00408.hp2 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19074.hp1 NA19082.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(25): Show a0001 a0003 a0004 a0005 a0007 a0011 a0013 a0015 a0016 a0017 a0018 a0019 a0024 a0025 a0035 a0036 a0037 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050	a0001c0001 a0003c0003 a0003c0059 others(30): Show a0001c0001 a0003c0003 a0003c0059 a0004c0004 a0004c0013 a0004c0033 a0005c0005 a0007c0012 a0011c0018 a0011c0034 a0013c0015 a0015c0019 a0016c0029 a0017c0024 a0017c0055 a0018c0020 a0019c0025 a0024c0028 a0025c0026 a0035c0035 a0036c0049 a0037c0050 a0039c0053 a0041c0048 a0042c0046 a0043c0043 a0044c0045 a0045c0044 a0046c0058 a0047c0056 a0048c0057 a0049c0060 a0050c0061	a0001c0001t0001 a0003c0003t0002 a0003c0003t0013 others(32): Show a0001c0001t0001 a0003c0003t0002 a0003c0003t0013 a0003c0059t0002 a0004c0004t0002 a0004c0013t0002 a0004c0033t0002 a0005c0005t0003 a0007c0012t0001 a0011c0018t0002 a0011c0034t0014 a0013c0015t0004 a0015c0019t0001 a0016c0029t0004 a0017c0024t0002 a0017c0055t0002 a0018c0020t0006 a0019c0025t0002 a0019c0025t0012 a0024c0028t0002 a0025c0026t0002 a0035c0035t0002 a0036c0049t0004 a0037c0050t0004 a0039c0053t0004 a0041c0048t0002 a0042c0046t0002 a0043c0043t0006 a0044c0045t0003 a0045c0044t0003 a0046c0058t0002 a0047c0056t0002 a0048c0057t0002 a0049c0060t0004 a0050c0061t0004	a0001c0001t0001g0142 a0003c0003t0002g0003 a0003c0003t0002g0005 others(92): Show a0001c0001t0001g0142 a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0013g0068 a0003c0059t0002g0069 a0004c0004t0002g0212 a0004c0004t0002g0216 a0004c0004t0002g0217 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0220 a0004c0004t0002g0221 a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0226 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0229 a0004c0004t0002g0230 a0004c0004t0002g0231 a0004c0004t0002g0235 a0004c0013t0002g0031 a0004c0013t0002g0032 a0004c0013t0002g0033 a0004c0013t0002g0035 a0004c0033t0002g0028 a0005c0005t0003g0002 a0005c0005t0003g0016 a0005c0005t0003g0244 a0005c0005t0003g0245 a0005c0005t0003g0247 a0005c0005t0003g0248 a0005c0005t0003g0249 a0005c0005t0003g0250 a0005c0005t0003g0251 a0005c0005t0003g0252 a0007c0012t0001g0010 a0007c0012t0001g0085 a0007c0012t0001g0128 a0011c0018t0002g0225 a0011c0018t0002g0232 a0011c0018t0002g0238 a0011c0034t0014g0029 a0013c0015t0004g0050 a0013c0015t0004g0051 a0013c0015t0004g0052 a0013c0015t0004g0053 a0015c0019t0001g0079 a0015c0019t0001g0080 a0015c0019t0001g0081 a0016c0029t0004g0017 a0016c0029t0004g0018 a0017c0024t0002g0046 a0017c0024t0002g0047 a0017c0055t0002g0019 a0018c0020t0006g0213 a0018c0020t0006g0214 a0018c0020t0006g0215 a0019c0025t0002g0236 a0019c0025t0012g0237 a0024c0028t0002g0233 a0024c0028t0002g0234 a0025c0026t0002g0024 a0025c0026t0002g0048 a0035c0035t0002g0030 a0036c0049t0004g0049 a0037c0050t0004g0055 a0039c0053t0004g0056 a0041c0048t0002g0223 a0042c0046t0002g0027 a0043c0043t0006g0246 a0044c0045t0003g0240 a0045c0044t0003g0239 a0046c0058t0002g0025 a0047c0056t0002g0026 a0048c0057t0002g0007 a0049c0060t0004g0054 a0050c0061t0004g0057	107	282	0.3794	-90	c.106 others(107): Show c.1068+553_1068+642delAGATCGTATATATAGTTGGTCCATTGTA CCCATGAGTTCTGCATTCATGGATTCAACCAACTATGGATCGTAAGTATT TAGGGGGAAAAA	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(83): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	268	0.0037	-90	c.556 others(107): Show c.5563+765_5563+854delCTATATATATATATATATCTATATATAT CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHAF1B_chr21_36380392_36424015	36388496	TCTCACTG others(83): Show TCTCACTGTTATCTAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGC AACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18988.hp2 NA18981.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0219 a0001c0001t0002g0220	2	346	0.0058	-90	c.259 others(105): Show c.259+772_259+861delTGTTATCTAGGCTGGAGTGCAGTGGCACAA TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCC TCAGCCTCAC	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHFR_chr12_132827356_132892605	132873506	TGCTGGAC others(83): Show TGCTGGACTGACTTTCTGTGTCCTCCTGCTCCACAGGGCTGGCTACGGGG CTGGAGTGCACACGGACTTGGGTGCATGCAGGGGCGCTGGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0008	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(56): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0004t0003 a0002c0002t0048 a0003c0003t0001 a0003c0003t0019 a0003c0003t0020 a0003c0003t0066 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019	a0001c0001t0008g0013 a0001c0001t0008g0240 a0001c0001t0008g0256 others(125): Show a0001c0001t0008g0013 a0001c0001t0008g0240 a0001c0001t0008g0256 a0001c0001t0008g0266 a0001c0001t0008g0286 a0001c0001t0008g0304 a0001c0001t0008g0306 a0001c0001t0010g0038 a0001c0001t0010g0236 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0010g0277 a0001c0001t0010g0289 a0001c0001t0010g0310 a0001c0001t0011g0014 a0001c0001t0011g0243 a0001c0001t0011g0248 a0001c0001t0011g0264 a0001c0001t0011g0287 a0001c0001t0011g0290 a0001c0001t0014g0004 a0001c0001t0014g0278 a0001c0001t0014g0279 a0001c0001t0014g0280 a0001c0001t0015g0235 a0001c0001t0015g0244 a0001c0001t0015g0247 a0001c0001t0015g0294 a0001c0001t0015g0298 a0001c0001t0015g0300 a0001c0001t0016g0234 a0001c0001t0016g0249 a0001c0001t0016g0250 a0001c0001t0016g0251 a0001c0001t0016g0302 a0001c0001t0025g0242 a0001c0001t0025g0255 a0001c0001t0025g0262 a0001c0001t0026g0016 a0001c0001t0026g0271 a0001c0001t0027g0015 a0001c0001t0027g0307 a0001c0001t0040g0253 a0001c0001t0040g0265 a0001c0001t0041g0257 a0001c0001t0041g0305 a0001c0001t0042g0275 a0001c0001t0042g0276 a0001c0001t0043g0017 a0001c0001t0044g0018 a0001c0001t0079g0245 a0001c0001t0080g0237 a0001c0001t0081g0252 a0001c0001t0082g0246 a0001c0001t0083g0272 a0001c0001t0084g0292 a0001c0001t0085g0285 a0001c0001t0086g0299 a0001c0001t0087g0281 a0001c0001t0088g0269 a0001c0001t0089g0282 a0001c0001t0092g0239 a0001c0001t0093g0284 a0001c0001t0094g0270 a0001c0001t0095g0295 a0001c0001t0096g0293 a0001c0001t0098g0296 a0001c0001t0099g0238 a0001c0001t0100g0297 a0001c0001t0101g0303 a0001c0001t0102g0308 a0001c0001t0103g0274 a0001c0001t0104g0309 a0001c0001t0105g0273 a0001c0001t0107g0241 a0001c0001t0108g0254 a0001c0001t0109g0301 a0001c0001t0110g0263 a0001c0001t0111g0260 a0001c0001t0112g0233 a0001c0001t0113g0261 a0001c0001t0114g0288 a0001c0001t0115g0267 a0001c0001t0116g0311 a0001c0001t0117g0232 a0001c0001t0118g0268 a0001c0004t0003g0202 a0002c0002t0048g0044 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 a0003c0003t0019g0346 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0066g0338 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350	136	378	0.3598	-90	c.234 others(107): Show c.234-1202_234-1113delTCCAGCGCCCCTGCATGCACCCAAGTCC GTGTGCACTCCAGCCCCGTAGCCAGCCCTGTGGAGCAGGAGGACACAGAA AGTCAGTCCAGC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CHST8_chr19_33616953_33778506	33757418	GAAAGAAA others(83): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	254	0.0039	-90	c.131 others(109): Show c.131-13993_131-13904delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLMP_chr11_123064872_123200248	123118963	TTCTTTCT others(83): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	254	0.0039	-90	c.29- others(107): Show c.29-21101_29-21012delGGGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN8_chr8_1758789_1791570	1763511	CCGCCGCG others(83): Show CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0028 a0001c0001t0023g0028	1	413	0.0024	-90	c.-49 others(99): Show c.-497_-408delCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCC GCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		277		chr8	TogoVar
CLN8_chr8_1758789_1791570	1785445	GGCGTGGG others(83): Show GGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACAGGCGGCGT GGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACAGGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG06807.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0056 a0001c0001t0025g0056	2	413	0.0048	-90	c.49 others(101): Show c.4968_*5057delAGCGTGGGGTTAGACAGGTACCGGTCAGATTACG GTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGC ACAGGC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4968	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLN8_chr8_1758789_1791570	1785662	ACACAGGC others(83): Show ACACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACA GGCTGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0033 a0001c0001t0100g0033	1	413	0.0024	-90	c.51 others(101): Show c.5124_*5213delCGGTCAGATTACGGTGGCACAGGCTGCGTGGGGT TAGACAGGTACCGGTCAGATTACGGTGGCACAGGCGGCGTGGGGTTAGAC AGGTAC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	5124	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLTC_chr17_59614895_59701956	59635098	GACCTATT others(83): Show GACCTATTAACTCTACAGTGGTAACACTTCTAAAGTCCTTGGTAAGATAC AAGATTCATTTGCAGAAAATAGCTCCATCTGAAAAACAGTA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	260	0.0039	-90	c.43- others(105): Show c.43-9177_43-9088delACCTATTAACTCTACAGTGGTAACACTTCT AAAGTCCTTGGTAAGATACAAGATTCATTTGCAGAAAATAGCTCCATCTG AAAAACAGTA	CLTC	ENSG00000141367.13	transcript	ENST00000269122.8	protein_coding	1/31			chr17	TogoVar
CNBD1_chr8_86861415_87387859	87136673	AATTATAT others(83): Show AATTATATATTATATTTATAATATATATAAATTATATATTATATTTATAA TATATATAAATTATATATTATATTTATAATATATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0040	1	152	0.0066	-90	c.432 others(109): Show c.432-69317_432-69228delTATATATTATATTTATAATATATATA AATTATATATTATATTTATAATATATATAAATTATATATTATATTTATAA TATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136795	ATATTATA others(83): Show ATATTATATTTATATTATATATAAATTATATATTATATTTATATTATATA TAAATTATATATTATATTTATATTATATATAAATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG03209.hp1 HG02258.hp2 HG02896.hp1 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0033 a0002c0002t0001g0150 a0003c0004t0001g0149 a0001c0001t0001g0033 a0002c0002t0001g0150 a0003c0004t0001g0149	3	152	0.0197	-90	c.432 others(109): Show c.432-69194_432-69105delTATATTTATATTATATATAAATTATA TATTATATTTATATTATATATAAATTATATATTATATTTATATTATATAT AAATTATATATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45442946	CAGCGGTG others(83): Show CAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGTGGCGGTGCTGGTG TGGGCGGCGGTGCTGATGTGGGTGGTGGTGGTGCTGATGTG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG02280.hp1 HG01258.hp2 HG01346.hp2 HG02280.hp1	a0001 a0019 a0001 a0019	a0001c0003 a0019c0096 a0001c0003 a0019c0096	a0001c0003t0001 a0019c0096t0015 a0001c0003t0001 a0019c0096t0015	a0001c0003t0001g0110 a0001c0003t0001g0287 a0019c0096t0015g0045 a0001c0003t0001g0110 a0001c0003t0001g0287 a0019c0096t0015g0045	3	292	0.0103	-90	c.107 others(109): Show c.107-25295_107-25206delAGCGGTGCTGATGTGGGTGGTGGTGC TGGTGTGGGTGGCGGTGCTGGTGTGGGCGGCGGTGCTGATGTGGGTGGTG GTGGTGCTGATGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
COL23A1_chr5_178232618_178595393	178448110	ACAGTCCG others(83): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTCG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	236	0.0042	-90	c.361 others(111): Show c.361+112482_361+112571delCGACTAGCACTAACAGAACAAAAC GGACTGCGACTAGCACTAACAGAACAAAACGGACTGCGACTAGCACTAAC AGAACAAAACGGACTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110481372	CTGTCCCT others(83): Show CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCATTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 NA18906.hp2	a0003 a0020 a0003 a0020	a0003c0039 a0003c0040 a0003c0118 others(1): Show a0003c0039 a0003c0040 a0003c0118 a0020c0096	a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 others(1): Show a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 a0020c0096t0010	a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 others(1): Show a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 a0020c0096t0010g0208	4	372	0.0108	-90	c.275 others(109): Show c.2758+1008_2759-1029delTGTTCTGTCCCTCCATTGCTGGAGAC ACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTGTGTCCCTCCGT TGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481550	CTCTGTCC others(83): Show CTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0122 a0002c0122	a0002c0122t0003 a0002c0122t0003	a0002c0122t0003g0020 a0002c0122t0003g0020	1	372	0.0027	-90	c.275 others(107): Show c.2759-954_2759-865delATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCTTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203489	GTATATGT others(83): Show GTATATGTGTATATATACATATATGTGTGTATATATGTGTATATATACAT ATATGTGTGTATATATGTGTATATATACATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp2 HG04199.hp1 others(3): Show HG01243.hp1 HG02602.hp2 HG04199.hp1 NA18969.hp2 NA19060.hp1 NA19088.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0010 a0008c0009 a0001c0001 a0006c0010 a0008c0009	a0001c0001t0001 a0006c0010t0003 a0008c0009t0001 a0001c0001t0001 a0006c0010t0003 a0008c0009t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0230 a0006c0010t0003g0095 a0008c0009t0001g0241 a0008c0009t0001g0282	6	344	0.0174	-90	c.88- others(107): Show c.88-34263_88-34174delGTGTATATATACATATATGTGTGTATAT ATGTGTATATATACATATATGTGTGTATATATGTGTATATATACATATAT GTGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587755	ACCCGCGT others(83): Show ACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0092 a0004c0011t0001g0092	1	348	0.0029	-90	c.927 others(105): Show c.927+657_927+746delGCGTGTCACCCACAGAAACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587765	CACCCACA others(83): Show CACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03195.hp2 NA18941.hp2 others(3): Show HG02155.hp2 HG03195.hp2 NA18941.hp2 NA18946.hp2 NA18966.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0007t0006 a0002c0003t0007	a0001c0001t0001g0115 a0001c0002t0003g0031 a0001c0002t0003g0047 others(3): Show a0001c0001t0001g0115 a0001c0002t0003g0031 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0007t0006g0161 a0002c0003t0007g0298	6	348	0.0172	-90	c.927 others(105): Show c.927+673_927+762delAACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGT TACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587775	AACACGGC others(83): Show AACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	348	0.0029	-90	c.927 others(105): Show c.927+685_927+774delGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATA CACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587887	GCGTGTCA others(83): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19085.hp1 HG03471.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0037 a0001c0002t0004g0325 a0001c0002t0004g0037 a0001c0002t0004g0325	2	348	0.0058	-90	c.928 others(105): Show c.928-760_928-671delGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173331	ACGTATAT others(83): Show ACGTATATATATATGTATATATATATACGTATATATATATGTATATATAT ACGTATATATATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp1 others(7): Show HG00140.hp1 HG00558.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG02135.hp1 HG02735.hp1 NA18966.hp2 NA18977.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0049 a0001c0001t0050 a0001c0001t0168	a0001c0001t0003g0058 a0001c0001t0003g0262 a0001c0001t0004g0077 others(7): Show a0001c0001t0003g0058 a0001c0001t0003g0262 a0001c0001t0004g0077 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0019g0094 a0001c0001t0049g0079 a0001c0001t0049g0090 a0001c0001t0050g0027 a0001c0001t0168g0087	10	388	0.0258	-90	c.11 others(103): Show c.11588_*11677delCGTATATATATATGTATATATATATACGTATA TATATATGTATATATATACGTATATATATATATACACATATGTATATATA TATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1187		chr14	TogoVar
CPSF6_chr12_69234569_69279358	69236234	ATAGCATA others(83): Show ATAGCATATATATTATATATTAAAATATATGTAGCATATATATTATATAT TAAAATATATGTAGCATATATATTATATATTAAAATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG02895.hp2 others(2): Show HG00408.hp1 HG01106.hp1 HG02895.hp2 NA18983.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0072 a0001c0002t0001 a0001c0002t0004 a0001c0002t0072	a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0154 others(2): Show a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0154 a0001c0002t0004g0002 a0001c0002t0072g0005	5	392	0.0128	-90	c.-34 others(101): Show c.-3412_-3323delTAGCATATATATTATATATTAAAATATATGTAGC ATATATATTATATATTAAAATATATGTAGCATATATATTATATATTAAAA TATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3334		chr12	TogoVar
CROCC2_chr2_240901336_240998311	240977545	GTCTCTGG others(83): Show GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19088.hp1 NA19004.hp2 NA19088.hp1	a0002 a0062 a0002 a0062	a0002c0002 a0062c0095 a0002c0002 a0062c0095	a0002c0002t0001 a0062c0095t0002 a0002c0002t0001 a0062c0095t0002	a0002c0002t0001g0120 a0062c0095t0002g0298 a0002c0002t0001g0120 a0062c0095t0002g0298	2	350	0.0057	-90	c.440 others(109): Show c.4402-5334_4402-5245delTCTCTGGGGTAGGAGCCTCAGGAGCC CAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977816	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0059 a0059	a0059c0030 a0059c0030	a0059c0030t0001 a0059c0030t0001	a0059c0030t0001g0025 a0059c0030t0001g0025	1	350	0.0029	-90	c.440 others(109): Show c.4402-4996_4402-4907delGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977884	GCCCAGGC others(83): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	350	0.0029	-90	c.440 others(109): Show c.4402-4906_4402-4817delTCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978295	GCTCACCC others(83): Show GCTCACCCCTCCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	350	0.0029	-90	c.440 others(109): Show c.4402-4580_4402-4491delCCCCTCCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGACTCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978367	GGAGCCTC others(83): Show GGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGC CTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	350	0.0029	-90	c.440 others(109): Show c.4402-4495_4402-4406delACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAG CCTCAGGAGCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978491	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	350	0.0029	-90	c.440 others(109): Show c.4402-4366_4402-4277delGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978535	GTCTCTGG others(83): Show GTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	350	0.0029	-90	c.440 others(109): Show c.4402-4344_4402-4255delTCTCTGGGGTAGGAGCCTCAGGATCC CAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978536	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02970.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp2	a0001 a0058 a0001 a0058	a0001c0001 a0058c0027 a0001c0001 a0058c0027	a0001c0001t0003 a0058c0027t0003 a0001c0001t0003 a0058c0027t0003	a0001c0001t0003g0144 a0001c0001t0003g0145 a0058c0027t0003g0026 a0001c0001t0003g0144 a0001c0001t0003g0145 a0058c0027t0003g0026	3	350	0.0086	-90	c.440 others(109): Show c.4402-4299_4402-4210delGCTCTGGGGTAGGAGCCTCAGGATCC CAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978694	GCCCAGGC others(83): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02723.hp1 others(3): Show HG02559.hp1 HG02559.hp2 HG02723.hp1 HG03041.hp1 HG03195.hp2 NA18944.hp2	a0002 a0003 a0012 others(3): Show a0002 a0003 a0012 a0015 a0022 a0031	a0002c0002 a0003c0003 a0012c0013 others(3): Show a0002c0002 a0003c0003 a0012c0013 a0015c0016 a0022c0042 a0031c0052	a0002c0002t0001 a0003c0003t0001 a0012c0013t0001 others(3): Show a0002c0002t0001 a0003c0003t0001 a0012c0013t0001 a0015c0016t0002 a0022c0042t0002 a0031c0052t0001	a0002c0002t0001g0131 a0003c0003t0001g0045 a0012c0013t0001g0124 others(3): Show a0002c0002t0001g0131 a0003c0003t0001g0045 a0012c0013t0001g0124 a0015c0016t0002g0246 a0022c0042t0002g0282 a0031c0052t0001g0169	6	350	0.0171	-90	c.440 others(109): Show c.4402-4121_4402-4032delCGTCTCTGTGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979189	GCCCAGAC others(83): Show GCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	350	0.0029	-90	c.440 others(109): Show c.4402-3685_4402-3596delACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979886	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0054 a0054	a0054c0036 a0054c0036	a0054c0036t0001 a0054c0036t0001	a0054c0036t0001g0231 a0054c0036t0001g0231	1	350	0.0029	-90	c.440 others(109): Show c.4402-2951_4402-2862delCGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979931	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0001 a0013c0075t0001	a0013c0075t0001g0178 a0013c0075t0001g0178	1	350	0.0029	-90	c.440 others(109): Show c.4402-2904_4402-2815delGCTCTGGGGTAGGAGCCTCAGGATCC CAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980110	GTCTCTGG others(83): Show GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0001 a0013c0075t0001	a0013c0075t0001g0178 a0013c0075t0001g0178	1	350	0.0029	-90	c.440 others(109): Show c.4402-2769_4402-2680delTCTCTGGGGTAGGAGCCTCAGGAGCC CAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGAC TCATCCCTGCTCAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980471	TCTCTGGG others(83): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02145.hp2 HG02723.hp1	a0017 a0031 a0017 a0031	a0017c0062 a0031c0052 a0017c0062 a0031c0052	a0017c0062t0001 a0031c0052t0001 a0017c0062t0001 a0031c0052t0001	a0017c0062t0001g0161 a0031c0052t0001g0169 a0017c0062t0001g0161 a0031c0052t0001g0169	2	350	0.0057	-90	c.440 others(109): Show c.4402-2364_4402-2275delGCTCTGGGGTAGGAGCCTCAGGATCC CAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGC TCATCCCTGCTCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980629	GCCCAGGC others(83): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG01884.hp1 HG03098.hp2	a0054 a0059 a0054 a0059	a0054c0036 a0059c0030 a0054c0036 a0059c0030	a0054c0036t0001 a0059c0030t0001 a0054c0036t0001 a0059c0030t0001	a0054c0036t0001g0231 a0059c0030t0001g0025 a0054c0036t0001g0231 a0059c0030t0001g0025	2	350	0.0057	-90	c.440 others(109): Show c.4402-2186_4402-2097delCGTCTCTGTGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985193	GGCACTCA others(83): Show GGCACTCACTCCACCACACACACACACCCAGGCACTCACTCCACACACAC ACCCAGGCACTCACTCCACACACACACCCAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19004.hp2 NA18994.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0002 a0002c0002t0001 a0002c0011t0002	a0002c0002t0001g0120 a0002c0011t0002g0334 a0002c0002t0001g0120 a0002c0011t0002g0334	2	350	0.0057	-90	c.455 others(109): Show c.4551+2165_4551+2254delGCACTCACTCCACCACACACACACAC CCAGGCACTCACTCCACACACACACCCAGGCACTCACTCCACACACACAC CCAGGCACTCCACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985321	GGCACTCA others(83): Show GGCACTCACTCCACCACACACACACACCCAGGCACTCACTCCACACACAA ACCCAGGCACTCACTCCACACACACACCCAGGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04115.hp2 HG04199.hp2 others(7): Show HG02004.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18971.hp2 NA19065.hp1 NA19082.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0011	a0001c0001 a0005c0005 a0007c0006 others(1): Show a0001c0001 a0005c0005 a0007c0006 a0011c0080	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0007c0006t0001 a0011c0080t0001	a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0002g0247 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0280 a0005c0005t0001g0017 a0005c0005t0001g0075 a0005c0005t0001g0138 a0007c0006t0001g0099 a0011c0080t0001g0142	10	350	0.0286	-90	c.455 others(109): Show c.4551+2293_4551+2382delGCACTCACTCCACCACACACACACAC CCAGGCACTCACTCCACACACAAACCCAGGCACTCACTCCACACACACAC CCAGGCACTCCACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CTBP1_chr4_1206445_1254130	1207518	TCCATGTG others(83): Show TCCATGTGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCAT GCGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0280 a0001c0001t0002g0325 a0001c0001t0001g0280 a0001c0001t0002g0325	2	422	0.0047	-90	c.46 others(101): Show c.4632_*4721delTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAGC GCGGCGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAGCGCGGC ACATGG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3926		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207524	TGCCGCGC others(83): Show TGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGCGCCG CGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0161 a0001c0001t0002g0028 a0001c0001t0002g0161	2	422	0.0047	-90	c.46 others(101): Show c.4626_*4715delGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGT GTAAGCGCGGCGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAG CGCGGC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3920		chr4	TogoVar

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Search Results (Total: 10000 hits)