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
CDH23_chr10_71391920_71820947	71425371	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01070.hp1 others(10): Show HG00558.hp1 HG00558.hp2 HG01070.hp1 HG01256.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG03540.hp2 HG03927.hp1 NA18966.hp2 NA18999.hp1 NA19085.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0010 a0012 a0016 a0034 a0065 a0067 a0077	a0001c0017 a0002c0011 a0002c0078 others(9): Show a0001c0017 a0002c0011 a0002c0078 a0004c0027 a0006c0051 a0010c0019 a0012c0004 a0016c0007 a0034c0074 a0065c0026 a0067c0109 a0077c0113	a0001c0017t0002 a0002c0011t0004 a0002c0078t0004 others(9): Show a0001c0017t0002 a0002c0011t0004 a0002c0078t0004 a0004c0027t0005 a0006c0051t0004 a0010c0019t0009 a0012c0004t0002 a0016c0007t0007 a0034c0074t0004 a0065c0026t0015 a0067c0109t0005 a0077c0113t0024	a0001c0017t0002g0092 a0002c0011t0004g0071 a0002c0078t0004g0061 others(10): Show a0001c0017t0002g0092 a0002c0011t0004g0071 a0002c0078t0004g0061 a0004c0027t0005g0044 a0006c0051t0004g0073 a0010c0019t0009g0025 a0010c0019t0009g0026 a0012c0004t0002g0075 a0016c0007t0007g0165 a0034c0074t0004g0060 a0065c0026t0015g0130 a0067c0109t0005g0114 a0077c0113t0024g0078	13	196	0.0663	28	c.-5- others(45): Show c.-5-14441_-5-14414dupAGGAAGGAAGGAAGGAAGGAAGGAAGGA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71425371	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGGAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0105 a0005c0105	a0005c0105t0002 a0005c0105t0002	a0005c0105t0002g0074 a0005c0105t0002g0074	1	196	0.0051	28	c.-5- others(45): Show c.-5-14443_-5-14442insGAGGAAGGAAGGAAGGAAGGAAGGAAGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71427195	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02622.hp1 others(2): Show HG01884.hp1 HG02559.hp1 HG02622.hp1 HG02965.hp1 NA18977.hp2	a0001 a0004 a0036 others(2): Show a0001 a0004 a0036 a0044 a0053	a0001c0001 a0004c0025 a0036c0166 others(2): Show a0001c0001 a0004c0025 a0036c0166 a0044c0142 a0053c0153	a0001c0001t0002 a0004c0025t0005 a0036c0166t0001 others(2): Show a0001c0001t0002 a0004c0025t0005 a0036c0166t0001 a0044c0142t0013 a0053c0153t0008	a0001c0001t0002g0063 a0004c0025t0005g0123 a0036c0166t0001g0187 others(2): Show a0001c0001t0002g0063 a0004c0025t0005g0123 a0036c0166t0001g0187 a0044c0142t0013g0019 a0053c0153t0008g0021	5	196	0.0255	28	c.-5- others(45): Show c.-5-12609_-5-12582dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71515394	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp2 HG01167.hp1 HG02559.hp2	a0002 a0023 a0002 a0023	a0002c0014 a0023c0008 a0002c0014 a0023c0008	a0002c0014t0007 a0023c0008t0003 a0002c0014t0007 a0023c0008t0003	a0002c0014t0007g0143 a0023c0008t0003g0133 a0002c0014t0007g0143 a0023c0008t0003g0133	2	196	0.0102	28	c.429 others(45): Show c.429+4183_429+4184insTCTCTCTCTCTCTCTCTCTCTCACACAC	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	6/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71759846	C C	CACACACA others(21): Show CACACACACATACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0018 a0018	a0018c0134 a0018c0134	a0018c0134t0013 a0018c0134t0013	a0018c0134t0013g0006 a0018c0134t0013g0006	1	196	0.0051	28	c.484 others(49): Show c.4846-17833_4846-17832insCACACACATACACACACACACACA CATA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71759846	C C	CACACACA others(21): Show CACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03516.hp2 NA18906.hp2 HG02056.hp1 HG03516.hp2 NA18906.hp2	a0021 a0033 a0057 a0021 a0033 a0057	a0021c0158 a0033c0006 a0057c0161 a0021c0158 a0033c0006 a0057c0161	a0021c0158t0001 a0033c0006t0003 a0057c0161t0008 a0021c0158t0001 a0033c0006t0003 a0057c0161t0008	a0021c0158t0001g0171 a0033c0006t0003g0101 a0057c0161t0008g0018 a0021c0158t0001g0171 a0033c0006t0003g0101 a0057c0161t0008g0018	3	196	0.0153	28	c.484 others(49): Show c.4846-17833_4846-17832insCACACACATATACACACACACACA CATA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH24_chr14_23042067_23062520	23061971	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	414	0.0024	28	c.-46 others(39): Show c.-4694_-4693insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDH24	ENSG00000139880.21	transcript	ENST00000487137.7	protein_coding		4452		chr14	TogoVar
CDH2_chr18_27945966_28182130	27957133	C C	CCCATCCA others(21): Show CCCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	268	0.0037	28	c.251 others(47): Show c.2515-4775_2515-4774insATGGATGGATGGATGGATGGATGGAT GG	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	15/15			chr18	TogoVar
CDH2_chr18_27945966_28182130	28166149	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19043.hp2 HG04199.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0015 a0001c0001t0004 a0002c0003t0015	a0001c0001t0004g0005 a0002c0003t0015g0264 a0001c0001t0004g0005 a0002c0003t0015g0264	2	268	0.0075	28	c.60+ others(45): Show c.60+10813_60+10814insATATATATATATATATATATATATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	1/15			chr18	TogoVar
CDH3_chr16_68640310_68705292	68654380	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0298 a0001c0004t0006g0298	1	338	0.0030	28	c.160 others(45): Show c.160+8641_160+8668dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61565221	T T	TGGTGGTA others(21): Show TGGTGGTAGTGGTCCTCTTGGTGATGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01099.hp2 others(10): Show HG00408.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG02040.hp1 HG02145.hp1 HG02895.hp1 HG02895.hp2 HG03579.hp2 HG04204.hp1 NA18906.hp1 NA18960.hp2 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0002c0002 a0002c0004 a0002c0009 a0002c0026 a0005c0025	a0001c0001t0002 a0001c0001t0011 a0001c0001t0028 others(10): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0028 a0001c0003t0002 a0001c0003t0037 a0001c0007t0010 a0001c0010t0001 a0001c0012t0001 a0002c0002t0004 a0002c0004t0033 a0002c0009t0035 a0002c0026t0015 a0005c0025t0011	a0001c0001t0002g0060 a0001c0001t0011g0005 a0001c0001t0028g0016 others(10): Show a0001c0001t0002g0060 a0001c0001t0011g0005 a0001c0001t0028g0016 a0001c0003t0002g0002 a0001c0003t0037g0023 a0001c0007t0010g0037 a0001c0010t0001g0027 a0001c0012t0001g0008 a0002c0002t0004g0077 a0002c0004t0033g0095 a0002c0009t0035g0026 a0002c0026t0015g0079 a0005c0025t0011g0099	13	106	0.1226	28	c.170 others(49): Show c.170-178342_170-178341insGGTGGTAGTGGTCCTCTTGGTGAT GGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61620158	A A	ATGGATGG others(21): Show ATGGATGGATGGACGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	106	0.0094	28	c.170 others(49): Show c.170-123393_170-123392insCGGATGGGTGGGTGGGTGGATGGA TGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH6_chr5_31188686_31334146	31199685	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0038 a0001c0002t0018g0038	1	338	0.0030	28	c.-12 others(47): Show c.-129+5800_-129+5801insGTATATATATATATATATATATATAT AT	CDH6	ENSG00000113361.13	transcript	ENST00000265071.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH7_chr18_65746012_65895337	65781768	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0066 a0002c0005t0066	a0002c0005t0066g0196 a0002c0005t0066g0196	1	208	0.0048	28	c.210 others(47): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTA TC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781772	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG01891.hp1 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0008 a0002c0002t0003 a0001c0008t0008 a0002c0002t0003	a0001c0008t0008g0151 a0002c0002t0003g0035 a0001c0008t0008g0151 a0002c0002t0003g0035	2	208	0.0096	28	c.210 others(47): Show c.210+18722_210+18723insTTTCTTTCTTTCTTTCTTTCTTTCTA TC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781776	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG04199.hp1 NA18966.hp1 HG02630.hp2 HG04199.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0010 a0002c0005t0022 a0002c0002t0010 a0002c0005t0022	a0002c0002t0010g0039 a0002c0002t0010g0044 a0002c0005t0022g0033 a0002c0002t0010g0039 a0002c0002t0010g0044 a0002c0005t0022g0033	3	208	0.0144	28	c.210 others(47): Show c.210+18726_210+18727insTTTCTTTCTTTCTTTCTTTCTTTCTA TC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781784	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0011 a0002c0002t0057g0011	1	208	0.0048	28	c.210 others(47): Show c.210+18734_210+18735insTTTCTTTCTTTCTTTCTTTCTTTCTA TC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65781830	C C	CTCTCTGT others(21): Show CTCTCTGTCTCTCTCTCTCTTCTCTCGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0043 a0002c0014t0043	a0002c0014t0043g0105 a0002c0014t0043g0105	1	208	0.0048	28	c.210 others(47): Show c.210+18779_210+18780insCTCTGTCTCTCTCTCTCTTCTCTCGT GT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65830721	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG03579.hp2 HG02280.hp1 HG03130.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0062 a0001c0007t0063 a0002c0002t0079 a0001c0007t0062 a0001c0007t0063 a0002c0002t0079	a0001c0007t0062g0102 a0001c0007t0063g0195 a0002c0002t0079g0101 a0001c0007t0062g0102 a0001c0007t0063g0195 a0002c0002t0079g0101	3	208	0.0144	28	c.981 others(45): Show c.981+5893_981+5894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03688.hp2 NA18965.hp1 HG00323.hp1 HG03688.hp2 NA18965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0039 a0002c0003t0004 a0002c0003t0039	a0002c0003t0004g0124 a0002c0003t0004g0136 a0002c0003t0039g0040 a0002c0003t0004g0124 a0002c0003t0004g0136 a0002c0003t0039g0040	3	208	0.0144	28	c.123 others(45): Show c.1235+123_1235+124insATATATATATATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTATA others(21): Show GATTTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02735.hp2 others(1): Show HG01257.hp1 HG01258.hp1 HG02735.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0003 a0002c0002t0010 a0002c0010t0003 a0002c0002t0003 a0002c0002t0010 a0002c0010t0003	a0002c0002t0003g0054 a0002c0002t0010g0036 a0002c0002t0010g0037 others(1): Show a0002c0002t0003g0054 a0002c0002t0010g0036 a0002c0002t0010g0037 a0002c0010t0003g0056	4	208	0.0192	28	c.123 others(45): Show c.1235+111_1235+112insTTATATATATATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65892890	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0067 a0002c0005t0067	a0002c0005t0067g0115 a0002c0005t0067g0115	1	208	0.0048	28	c.11 others(41): Show c.11996_*11997insGAAGGAAGGAAGGAAGGAAAGAAAGAAA	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding		2554		chr18	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0029 a0003c0004t0016 a0001c0002t0029 a0003c0004t0016	a0001c0002t0029g0005 a0003c0004t0016g0017 a0001c0002t0029g0005 a0003c0004t0016g0017	2	168	0.0119	28	c.141 others(47): Show c.1415-8898_1415-8897insCCTTTCTTTCTTTCTTTCTTTCTTTC TT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61736112	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	168	0.0060	28	c.141 others(47): Show c.1415-8925_1415-8898dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61852877	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCATT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG02080.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0163 a0001c0001t0021g0057 a0001c0001t0002g0163 a0001c0001t0021g0057	2	168	0.0119	28	c.667 others(45): Show c.667+4241_667+4242insAATGGAAGGAAGGAAGGAAGGAAGGAAG	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	4/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61940398	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	168	0.0060	28	c.253 others(47): Show c.253-38926_253-38925insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61953895	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18999.hp2 NA18906.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0117 a0001c0001t0005g0164 a0001c0001t0001g0117 a0001c0001t0005g0164	2	168	0.0119	28	c.253 others(47): Show c.253-52450_253-52423dupTATATATATATATATATATATATATA TA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960086	T T	TATGTGTG others(21): Show TATGTGTGTGTATACACATACATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0047 a0001c0001t0063g0047	1	168	0.0060	28	c.253 others(47): Show c.253-58614_253-58613insGTATATATGTATGTGTATACACACAC AT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960087	A A	ATGTGTGT others(21): Show ATGTGTGTGTATACACATACATATATACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	168	0.0060	28	c.253 others(47): Show c.253-58615_253-58614insCGTATATATGTATGTGTATACACACA CA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960089	G G	GTGTGTGT others(21): Show GTGTGTGTATACACATACATATATACATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0060 a0001c0001t0072g0060	1	168	0.0060	28	c.253 others(47): Show c.253-58617_253-58616insTATGTATATATGTATGTGTATACACA CA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960121	G G	GTGTGTGT others(21): Show GTGTGTGTATACACATACATATATACATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0047 a0001c0001t0063g0047	1	168	0.0060	28	c.253 others(47): Show c.253-58649_253-58648insTATGTATATATGTATGTGTATACACA CA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960153	G G	GTGTGTGT others(21): Show GTGTGTGTGTATACATACATATATACATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	168	0.0060	28	c.253 others(47): Show c.253-58681_253-58680insTATGTATATATGTATGTATACACACA CA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960258	T T	TACATATA others(21): Show TACATATATACATGTGTGTGTGTATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0090 a0001c0001t0061g0090	1	168	0.0060	28	c.253 others(47): Show c.253-58786_253-58785insGTGTATACACACACACATGTATATAT GT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960349	G G	GTGTGTGT others(21): Show GTGTGTGTGTATACACATACATATATACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01168.hp1 others(15): Show HG00558.hp2 HG00621.hp1 HG01168.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG02004.hp1 HG02145.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02886.hp1 HG02976.hp1 HG03486.hp2 NA18950.hp2 NA18951.hp2 NA18987.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0001c0001t0070 a0001c0002t0004 a0004c0009t0049	a0001c0001t0002g0022 a0001c0001t0002g0149 a0001c0001t0002g0155 others(15): Show a0001c0001t0002g0022 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0166 a0001c0001t0007g0067 a0001c0001t0008g0043 a0001c0001t0010g0072 a0001c0001t0021g0050 a0001c0001t0025g0007 a0001c0001t0031g0012 a0001c0001t0033g0013 a0001c0001t0038g0064 a0001c0001t0055g0147 a0001c0001t0057g0046 a0001c0001t0060g0114 a0001c0001t0070g0123 a0001c0002t0004g0065 a0004c0009t0049g0036	18	168	0.1071	28	c.253 others(47): Show c.253-58904_253-58877dupTGTATATATGTATGTGTATACACACA CA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDHR2_chr5_176544342_176600824	176544451	C C	CTTTCTTT others(21): Show CTTTCTTTCTCTCTTTCTCTCTTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0043 a0006c0019t0001g0043	1	344	0.0029	28	c.-49 others(39): Show c.-4979_-4978insTTTCTTTCTCTCTTTCTCTCTTTCCTTT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding		4890		chr5	TogoVar
CDHR5_chr11_611583_629955	612985	G G	GGCTCATG others(21): Show GGCTCATGTCCTCACCATTCACCATGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	28	c.43 others(39): Show c.4365_*4366insTGTCATGGTGAATGGTGAGGACATGAGC	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3597		chr11	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG02630.hp1 HG00423.hp1 HG02056.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0010 a0002c0002t0015 a0002c0003t0001 a0001c0001t0010 a0002c0002t0015 a0002c0003t0001	a0001c0001t0010g0194 a0002c0002t0015g0046 a0002c0003t0001g0155 a0001c0001t0010g0194 a0002c0002t0015g0046 a0002c0003t0001g0155	3	238	0.0126	28	c.544 others(45): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36718812	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	238	0.0042	28	c.716 others(45): Show c.716+8874_716+8875insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36751229	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	238	0.0042	28	c.716 others(47): Show c.716+41272_716+41299dupATATATATATATATATATATATATAT AT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDIN1_chr15_36574626_36815244	36797979	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0008 a0001c0001t0025	a0001c0001t0008g0148 a0001c0001t0025g0089 a0001c0001t0008g0148 a0001c0001t0025g0089	2	238	0.0084	28	c.717 others(47): Show c.717-10334_717-10333insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK12_chr17_39456486_39539544	39476711	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0073 a0001c0001t0030g0073	1	260	0.0039	28	c.193 others(47): Show c.1931+4950_1931+4977dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39499048	T T	TTCCCTCC others(21): Show TTCCCTCCTTCCCTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	260	0.0039	28	c.242 others(47): Show c.2420-2201_2420-2200insCCCTCCTTCCCTCCTTCCCTCCTTCC CT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39532102	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTATCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp2 HG03486.hp2 HG02738.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0086 a0001c0001t0018g0094 a0001c0001t0018g0086 a0001c0001t0018g0094	2	260	0.0077	28	c.79 others(37): Show c.799_*800insATCTCTCTCTCTCTCTCTCTCTCTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	14/14	800	INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	322	0.0031	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCACACACACACACACACAC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	322	0.0031	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCTCACACACACACACACAC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03688.hp1 HG01975.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0037 a0001c0001t0008g0006 a0001c0001t0001g0037 a0001c0001t0008g0006	2	322	0.0062	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCTCTCACACACACACACAC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	322	0.0031	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCACAC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18954.hp1 others(2): Show NA18943.hp1 NA18947.hp2 NA18954.hp1 NA18966.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 others(2): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0180 a0001c0001t0003g0321	5	322	0.0155	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCAC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 NA18945.hp1 others(1): Show HG00408.hp1 HG02040.hp2 NA18945.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0317 others(1): Show a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0317 a0001c0001t0013g0102	4	322	0.0124	28	c.121 others(49): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC ACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90621663	T T	TCCTGCCT others(21): Show TCCTGCCTTCCTGCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	168	0.0060	28	c.123 others(47): Show c.123+17417_123+17418insGCCTTCCTGCCTTCCTGCCTTCCTGC CT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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