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
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02965.hp1 others(2): Show HG00597.hp1 HG00597.hp2 HG02965.hp1 HG03225.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001	a0001c0001t0003g0016 a0001c0001t0003g0059 a0001c0002t0002g0020 others(2): Show a0001c0001t0003g0016 a0001c0001t0003g0059 a0001c0002t0002g0020 a0001c0002t0003g0018 a0001c0004t0001g0036	5	106	0.0472	36	c.236 others(53): Show c.2360+673_2360+674insTTCCTTCCTTCCTTCCTTCCTCCCTTCC TTCCTTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	106	0.0094	36	c.209 others(55): Show c.2092+4313_2092+4314insTATATATATATATATATATATATATA TATACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77506596	A A	AGAGAGAG others(29): Show AGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0082	1	106	0.0094	36	c.379 others(57): Show c.379-102574_379-102573insACACACACACACACACACACACAC ACACACTCTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77555057	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	106	0.0094	36	c.378 others(55): Show c.378+82207_378+82208insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	106	0.0094	36	c.378 others(55): Show c.378+64695_378+64696insATATATATATATATATATATATATAT ATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572603	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	106	0.0094	36	c.378 others(55): Show c.378+64661_378+64662insTTATATATATATATATATATATATAT ATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390513	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	432	0.0023	36	c.-12 others(47): Show c.-1280_-1279insATATATATATATATATATATATATATATATATAT TT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1147		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0038	a0003c0003t0038g0043 a0003c0003t0038g0043	1	432	0.0023	36	c.-12 others(47): Show c.-1284_-1283insATATATATATATATATATTTTTTTTTTTTTTTTT TT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0042 a0003c0003t0011g0042	1	432	0.0023	36	c.-12 others(47): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT TT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758976	T T	TCTCCAAG others(29): Show TCTCCAAGAGGAGATATATATATATATCTCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0221 a0001c0002t0008g0018 a0001c0001t0002g0221 a0001c0002t0008g0018	2	232	0.0086	36	c.-67 others(55): Show c.-67-48367_-67-48366insCTCCAAGAGGAGATATATATATATAT CTCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02523.hp2 HG02109.hp1 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0055 a0002c0002t0001g0145 a0001c0001t0001g0055 a0002c0002t0001g0145	2	250	0.0080	36	c.121 others(55): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114373657	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0029 a0001c0018t0001g0029	1	250	0.0040	36	c.121 others(55): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATAAA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAAATAT others(29): Show TTAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA20752.hp1 HG04199.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0073 a0002c0002t0010 a0002c0002t0073	a0002c0002t0010g0149 a0002c0002t0073g0146 a0002c0002t0010g0149 a0002c0002t0073g0146	2	238	0.0084	36	c.144 others(55): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATATTTA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19084.hp2 HG02040.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0083 a0004c0005t0092 a0001c0001t0083 a0004c0005t0092	a0001c0001t0083g0076 a0004c0005t0092g0029 a0001c0001t0083g0076 a0004c0005t0092g0029	2	238	0.0084	36	c.144 others(55): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATATATA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0061 a0001c0008t0008g0061	1	238	0.0042	36	c.144 others(55): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATATAAA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2544250	A A	ATATATGT others(29): Show ATATATGTGTATATATGTATATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01943.hp2 NA18522.hp2 HG01891.hp2 HG01943.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0001 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0040 a0001c0001t0005g0202 a0001c0001t0015g0031 a0001c0001t0001g0040 a0001c0001t0005g0202 a0001c0001t0015g0031	3	208	0.0144	36	c.477 others(55): Show c.477+16237_477+16238insGTGTATATATGTATATATATGTGTAT ATATGTATAT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2570329	C C	CCCTCTGG others(29): Show CCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(45): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01943.hp1 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp2 HG02258.hp1 HG02683.hp1 HG03017.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18979.hp2 NA18983.hp1 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19058.hp1 NA19074.hp1 NA19091.hp1 NA19091.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0003c0006 a0005c0008 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0001 a0002c0004t0002 a0003c0006t0010 a0005c0008t0002 a0008c0012t0002	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0134 others(45): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0193 a0001c0001t0002g0208 a0001c0001t0003g0080 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0196 a0001c0001t0007g0018 a0001c0001t0008g0107 a0001c0002t0001g0028 a0001c0002t0001g0092 a0001c0002t0001g0195 a0001c0002t0002g0051 a0001c0002t0002g0152 a0001c0002t0002g0177 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0169 a0001c0007t0001g0103 a0002c0004t0002g0067 a0003c0006t0010g0012 a0005c0008t0002g0064 a0005c0008t0002g0121 a0008c0012t0002g0173	48	208	0.2308	36	c.478 others(51): Show c.478-289_478-254dupAAGGCTGGGGTTCCTGGTGTGGGGCCTCCT CTGGCC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63431955	T T	TCCACCCA others(29): Show TCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0048 a0001c0008t0007g0048	1	330	0.0030	36	c.111 others(53): Show c.1119-587_1119-586insGGCCTTCCCTGTGGGTGGAGCCTTCCCT GTGGGTGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63431985	G G	GAAGGCCC others(29): Show GAAGGCCCCACCCACAGGGAAGGCCTCACCCACAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01256.hp1 others(13): Show HG00099.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01993.hp1 HG02056.hp1 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0002t0034 a0001c0002t0043 others(6): Show a0001c0002t0022 a0001c0002t0034 a0001c0002t0043 a0001c0003t0013 a0001c0003t0015 a0001c0003t0022 a0001c0003t0100 a0001c0003t0103 a0001c0003t0104	a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 others(12): Show a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 a0001c0002t0043g0009 a0001c0003t0013g0292 a0001c0003t0013g0296 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0015g0031 a0001c0003t0022g0111 a0001c0003t0100g0268 a0001c0003t0103g0301 a0001c0003t0104g0287	16	330	0.0485	36	c.111 others(53): Show c.1119-617_1119-616insTCCTGTGGGTGAGGCCTTCCCTGTGGGT GGGGCCTT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432764	C C	CCCCACCC others(29): Show CCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0002 a0001c0002t0022g0002	1	330	0.0030	36	c.111 others(55): Show c.1118+1044_1118+1045insTCCTTCCCTGAGGGTGGGGCCTTCCC AGAGGGTGGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432772	T T	TCTGGGAA others(29): Show TCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(3): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG02148.hp1 HG02258.hp2 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0019 a0002c0001 a0002c0019	a0002c0001t0020 a0002c0001t0058 a0002c0019t0038 a0002c0001t0020 a0002c0001t0058 a0002c0019t0038	a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 others(3): Show a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 a0002c0001t0058g0204 a0002c0019t0038g0290 a0002c0019t0038g0291	6	330	0.0182	36	c.111 others(55): Show c.1118+1036_1118+1037insTGGGTGGATCCTTCCCTGAGGGTGGG GCCTTCCCAG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442719	C C	CCACCACC others(29): Show CCACCACCACCATCACCATCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03927.hp2 HG03017.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0028 a0001c0008 a0001c0028	a0001c0008t0007 a0001c0028t0091 a0001c0008t0007 a0001c0028t0091	a0001c0008t0007g0048 a0001c0028t0091g0024 a0001c0008t0007g0048 a0001c0028t0091g0024	2	330	0.0061	36	c.691 others(51): Show c.691-189_691-188insATGGTGGTGATGGTGGTGATGGTGATGGTG GTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63445817	G G	GGAGGCCC others(29): Show GGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01261.hp1 others(20): Show HG00140.hp1 HG00323.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp1 HG01952.hp1 HG02027.hp2 HG02080.hp2 HG02293.hp1 HG03688.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18962.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19065.hp2 NA19080.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0001 a0004c0023	a0001c0002t0002 a0001c0002t0075 a0001c0004t0004 others(10): Show a0001c0002t0002 a0001c0002t0075 a0001c0004t0004 a0001c0004t0110 a0001c0005t0011 a0001c0005t0030 a0001c0005t0041 a0001c0005t0045 a0001c0005t0046 a0001c0005t0048 a0002c0001t0001 a0002c0001t0032 a0004c0023t0011	a0001c0002t0002g0158 a0001c0002t0075g0222 a0001c0004t0004g0154 others(20): Show a0001c0002t0002g0158 a0001c0002t0075g0222 a0001c0004t0004g0154 a0001c0004t0110g0324 a0001c0005t0011g0032 a0001c0005t0011g0145 a0001c0005t0011g0152 a0001c0005t0011g0241 a0001c0005t0030g0156 a0001c0005t0030g0157 a0001c0005t0041g0010 a0001c0005t0045g0143 a0001c0005t0046g0142 a0001c0005t0048g0144 a0002c0001t0001g0019 a0002c0001t0001g0146 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0151 a0002c0001t0001g0250 a0002c0001t0032g0147 a0002c0001t0032g0252 a0004c0023t0011g0251	23	330	0.0697	36	c.388 others(51): Show c.388-454_388-453insAGCTCAGACAGGGTCCCCCAGCTCAGACAG GGCCTC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	2/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63449686	C C	CGGGAGAA others(29): Show CGGGAGAAGAGGGAAAAGCCCCAGCGTCTGAGCTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG02738.hp2 others(9): Show HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0007 a0001c0007t0044 a0001c0014t0007 others(1): Show a0001c0007t0007 a0001c0007t0044 a0001c0014t0007 a0001c0014t0015	a0001c0007t0007g0227 a0001c0007t0007g0228 a0001c0007t0007g0229 others(9): Show a0001c0007t0007g0227 a0001c0007t0007g0228 a0001c0007t0007g0229 a0001c0007t0007g0232 a0001c0007t0007g0233 a0001c0007t0007g0234 a0001c0007t0007g0235 a0001c0007t0007g0244 a0001c0007t0044g0224 a0001c0014t0007g0226 a0001c0014t0007g0231 a0001c0014t0015g0230	12	330	0.0364	36	c.297 others(53): Show c.297-2885_297-2850dupAGGAGCTCAGACGCTGGGGCTTTTCCCT CTTCTCCC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154213	T T	TTTGTTTT others(29): Show TTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0146 a0001c0001t0095g0146	1	176	0.0057	36	c.126 others(55): Show c.1262+9254_1262+9255insCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG01943.hp1 others(8): Show HG00323.hp1 HG01175.hp1 HG01943.hp1 HG02080.hp1 HG02080.hp2 HG03471.hp1 NA18941.hp1 NA18960.hp2 NA18977.hp2 NA19012.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0028 a0001c0001t0066 a0001c0001t0089 a0001c0001t0095 a0001c0001t0101 a0002c0002t0002 a0002c0002t0003 a0002c0002t0081	a0001c0001t0001g0024 a0001c0001t0008g0006 a0001c0001t0016g0132 others(8): Show a0001c0001t0001g0024 a0001c0001t0008g0006 a0001c0001t0016g0132 a0001c0001t0028g0060 a0001c0001t0066g0068 a0001c0001t0089g0142 a0001c0001t0095g0146 a0001c0001t0101g0156 a0002c0002t0002g0117 a0002c0002t0003g0158 a0002c0002t0081g0103	11	176	0.0625	36	c.387 others(57): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG03486.hp1 others(2): Show HG02258.hp2 HG02647.hp2 HG03486.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0027 a0001c0002t0025	a0001c0001t0003g0067 a0001c0001t0012g0068 a0001c0001t0017g0047 others(2): Show a0001c0001t0003g0067 a0001c0001t0012g0068 a0001c0001t0017g0047 a0001c0001t0027g0030 a0001c0002t0025g0065	5	80	0.0625	36	c.399 others(57): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135730344	A A	ACTATGTA others(29): Show ACTATGTAACCATGCGTGGCGAGGGGGACCACACGTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	272	0.0037	36	c.254 others(55): Show c.254+15625_254+15660dupCTATGTAACCATGCGTGGCGAGGGGG ACCACACGTG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(29): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	272	0.0037	36	c.254 others(55): Show c.254+17272_254+17273insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(29): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0156 a0001c0001t0039g0156	1	272	0.0037	36	c.254 others(55): Show c.254+17272_254+17273insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135778856	A A	ACCCCACA others(29): Show ACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01243.hp2 others(1): Show HG01074.hp2 HG01167.hp1 HG01243.hp2 HG02698.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0008 a0005c0021 a0001c0001 a0002c0008 a0005c0021	a0001c0001t0002 a0002c0008t0001 a0005c0021t0001 a0001c0001t0002 a0002c0008t0001 a0005c0021t0001	a0001c0001t0002g0078 a0002c0008t0001g0170 a0002c0008t0001g0171 others(1): Show a0001c0001t0002g0078 a0002c0008t0001g0170 a0002c0008t0001g0171 a0005c0021t0001g0246	4	272	0.0147	36	c.272 others(53): Show c.2729+108_2729+143dupCCCACAGCCACGACCACGGGCCCTCGCC CTGAGACC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135778966	G G	GCCACAGC others(29): Show GCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	272	0.0037	36	c.272 others(53): Show c.2729+152_2729+187dupCACGACCACGGGCCCTCGCCCTGAGACC CCCACAGC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135784482	G G	GCTCCCTC others(29): Show GCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0109 a0001c0002t0035g0109	1	272	0.0037	36	c.294 others(50): Show c.2944-42_2944-7dupCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18990.hp2 HG03516.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0046 a0001c0001t0001g0074	2	136	0.0147	36	c.269 others(55): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 NA18943.hp2 HG02109.hp1 HG02717.hp2 NA18943.hp2	a0004 a0022 a0059 a0004 a0022 a0059	a0004c0004 a0022c0025 a0059c0081 a0004c0004 a0022c0025 a0059c0081	a0004c0004t0002 a0022c0025t0001 a0059c0081t0002 a0004c0004t0002 a0022c0025t0001 a0059c0081t0002	a0004c0004t0002g0153 a0022c0025t0001g0305 a0059c0081t0002g0306 a0004c0004t0002g0153 a0022c0025t0001g0305 a0059c0081t0002g0306	3	372	0.0081	36	c.219 others(51): Show c.219+139_219+174dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp1 HG03209.hp1 HG01934.hp1 HG02145.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0059 a0001c0001t0060 a0001c0001t0018 a0001c0001t0059 a0001c0001t0060	a0001c0001t0018g0099 a0001c0001t0059g0007 a0001c0001t0060g0002 a0001c0001t0018g0099 a0001c0001t0059g0007 a0001c0001t0060g0002	3	156	0.0192	36	c.833 others(55): Show c.833-21495_833-21494insATATATATATATATATATATATATAT ATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0019 a0002c0002t0007g0022 a0002c0002t0007g0019 a0002c0002t0007g0022	2	366	0.0055	36	c.-47 others(53): Show c.-47+4905_-47+4906insGTGTGTATATATATATATATATATATAT ATATATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	36	c.25 others(47): Show c.2563_*2564insATATATATATATATATATATATATATTTTTTTTT TT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	392	0.0026	36	c.186 others(53): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	392	0.0026	36	c.186 others(53): Show c.1866+398_1866+399insGTGTATATATATATATATATATATATAT ATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM1B_chr6_18150422_18228854	18208627	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	392	0.0026	36	c.186 others(53): Show c.1866+422_1866+423insATATATATATATATATATATATATATAT ATATATTT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
KDM3A_chr2_86436371_86497716	86488605	T T	TGGGGGGG others(29): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	302	0.0033	36	c.331 others(53): Show c.3314-709_3314-708insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGG	KDM3A	ENSG00000115548.17	transcript	ENST00000312912.10	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM4B_chr19_4964113_5158598	5090463	C C	CCTCTTTC others(29): Show CCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01261.hp2 others(2): Show HG01081.hp1 HG01081.hp2 HG01261.hp2 HG01496.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0007 a0001c0007t0007 a0001c0001t0003 a0001c0001t0007 a0001c0007t0007	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0007g0040 others(2): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0007g0040 a0001c0001t0007g0053 a0001c0007t0007g0037	5	270	0.0185	36	c.918 others(53): Show c.918+7992_918+7993insCCTCTCTTTCTCTCCCCCCCTCTCTTTC TCTCCCCC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4C_chr9_6752973_7180648	6919247	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0254 a0006c0009t0003g0254	1	266	0.0038	36	c.921 others(55): Show c.921+26017_921+26018insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0101 a0001c0001t0045g0101	1	350	0.0029	36	c.673 others(53): Show c.673-1291_673-1290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KHDRBS2_chr6_61674961_62291225	61848564	T T	TATGTATA others(29): Show TATGTATATATATACATATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	244	0.0041	36	c.810 others(55): Show c.810+46070_810+46071insGTATATATATACATATATATATGTAT ATATATACAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	6/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135481223	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	342	0.0029	36	c.88+ others(53): Show c.88+23297_88+23298insATATATATATATATATATATATATATAT ATATATAT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0059 a0001c0001t0036g0059	1	300	0.0033	36	c.314 others(55): Show c.3145-2082_3145-2081insATATATATATATATATATATATATAT TTTTTTTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0825_chr5_94145851_94623604	94529339	G G	GTATGTAT others(29): Show GTATGTATCATATATATGTATATATCATATATATGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0046 a0001c0001t0017g0046	1	54	0.0185	36	c.132 others(53): Show c.132-5242_132-5241insTACATATATATGATATATACATATATAT GATACATA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	3/20			chr5	TogoVar
KIAA0930_chr22_45187244_45245894	45210751	T T	TCCCTGCC others(29): Show TCCCTGCCTGCCCGAGTGTGGCTCTAGTCCCTGCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(202): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0011 a0002c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0076 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0133 a0001c0001t0134 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0147 a0001c0001t0148 a0001c0001t0152 a0001c0001t0161 a0001c0001t0162 a0001c0001t0164 a0001c0001t0168 a0001c0001t0176 a0001c0001t0187 a0001c0001t0188 a0001c0002t0005 a0001c0003t0035 a0001c0003t0036 a0001c0003t0165 a0001c0003t0166 a0001c0003t0167 a0001c0003t0174 a0001c0003t0175 a0001c0008t0113 a0001c0010t0121 a0001c0011t0117 a0002c0007t0101 a0003c0006t0004	a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0109 others(201): Show a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0361 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0206 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0272 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0002g0373 a0001c0001t0002g0389 a0001c0001t0003g0211 a0001c0001t0004g0033 a0001c0001t0004g0054 a0001c0001t0004g0075 a0001c0001t0004g0121 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0139 a0001c0001t0004g0213 a0001c0001t0004g0247 a0001c0001t0004g0298 a0001c0001t0004g0359 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0137 a0001c0001t0006g0200 a0001c0001t0006g0239 a0001c0001t0006g0249 a0001c0001t0006g0362 a0001c0001t0006g0375 a0001c0001t0007g0174 a0001c0001t0007g0250 a0001c0001t0012g0095 a0001c0001t0012g0229 a0001c0001t0014g0188 a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0192 a0001c0001t0014g0248 a0001c0001t0015g0203 a0001c0001t0015g0205 a0001c0001t0015g0208 a0001c0001t0015g0224 a0001c0001t0015g0238 a0001c0001t0017g0039 a0001c0001t0017g0042 a0001c0001t0017g0048 a0001c0001t0017g0364 a0001c0001t0018g0047 a0001c0001t0018g0049 a0001c0001t0018g0159 a0001c0001t0018g0164 a0001c0001t0019g0243 a0001c0001t0019g0330 a0001c0001t0019g0331 a0001c0001t0019g0383 a0001c0001t0020g0096 a0001c0001t0020g0353 a0001c0001t0021g0241 a0001c0001t0021g0253 a0001c0001t0021g0377 a0001c0001t0021g0381 a0001c0001t0022g0136 a0001c0001t0023g0004 a0001c0001t0023g0173 a0001c0001t0023g0369 a0001c0001t0024g0130 a0001c0001t0024g0167 a0001c0001t0024g0234 a0001c0001t0024g0355 a0001c0001t0028g0115 a0001c0001t0028g0242 a0001c0001t0028g0338 a0001c0001t0029g0374 a0001c0001t0033g0189 a0001c0001t0033g0209 a0001c0001t0033g0218 a0001c0001t0034g0105 a0001c0001t0034g0152 a0001c0001t0034g0165 a0001c0001t0039g0225 a0001c0001t0039g0348 a0001c0001t0040g0158 a0001c0001t0040g0347 a0001c0001t0041g0371 a0001c0001t0042g0034 a0001c0001t0042g0222 a0001c0001t0043g0082 a0001c0001t0043g0083 a0001c0001t0044g0014 a0001c0001t0044g0199 a0001c0001t0045g0327 a0001c0001t0045g0328 a0001c0001t0046g0223 a0001c0001t0046g0228 a0001c0001t0047g0070 a0001c0001t0047g0352 a0001c0001t0052g0193 a0001c0001t0052g0194 a0001c0001t0053g0040 a0001c0001t0053g0078 a0001c0001t0055g0077 a0001c0001t0056g0038 a0001c0001t0056g0345 a0001c0001t0059g0090 a0001c0001t0059g0354 a0001c0001t0068g0010 a0001c0001t0069g0011 a0001c0001t0073g0323 a0001c0001t0076g0372 a0001c0001t0080g0344 a0001c0001t0081g0180 a0001c0001t0082g0041 a0001c0001t0083g0045 a0001c0001t0084g0046 a0001c0001t0085g0157 a0001c0001t0086g0081 a0001c0001t0087g0252 a0001c0001t0088g0035 a0001c0001t0089g0196 a0001c0001t0090g0017 a0001c0001t0091g0197 a0001c0001t0092g0368 a0001c0001t0093g0245 a0001c0001t0094g0138 a0001c0001t0095g0370 a0001c0001t0096g0127 a0001c0001t0097g0093 a0001c0001t0098g0325 a0001c0001t0099g0210 a0001c0001t0102g0366 a0001c0001t0105g0226 a0001c0001t0106g0220 a0001c0001t0107g0091 a0001c0001t0108g0379 a0001c0001t0110g0335 a0001c0001t0114g0092 a0001c0001t0115g0329 a0001c0001t0116g0112 a0001c0001t0118g0085 a0001c0001t0119g0084 a0001c0001t0120g0227 a0001c0001t0133g0334 a0001c0001t0134g0251 a0001c0001t0137g0207 a0001c0001t0138g0217 a0001c0001t0139g0219 a0001c0001t0140g0134 a0001c0001t0142g0044 a0001c0001t0143g0161 a0001c0001t0144g0156 a0001c0001t0147g0043 a0001c0001t0148g0346 a0001c0001t0152g0349 a0001c0001t0161g0023 a0001c0001t0162g0024 a0001c0001t0164g0050 a0001c0001t0168g0342 a0001c0001t0176g0386 a0001c0001t0187g0393 a0001c0001t0188g0394 a0001c0002t0005g0244 a0001c0003t0035g0257 a0001c0003t0035g0258 a0001c0003t0035g0263 a0001c0003t0036g0268 a0001c0003t0036g0269 a0001c0003t0036g0305 a0001c0003t0165g0259 a0001c0003t0166g0036 a0001c0003t0167g0256 a0001c0003t0174g0262 a0001c0003t0175g0246 a0001c0008t0113g0089 a0001c0010t0121g0392 a0001c0011t0117g0098 a0002c0007t0101g0212 a0003c0006t0004g0118	205	398	0.5151	36	c.216 others(53): Show c.216+1169_216+1204dupTGTGCAGGGACTAGAGCCACACTCGGGC AGGCAGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9			chr22	TogoVar

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