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
ITPR2_chr12_26330352_26838194	26784329	CTCCCTCT others(16): Show CTCCCTCTCCCTCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0123 a0001c0002t0046g0123	1	142	0.0070	-23	c.163 others(40): Show c.163+5805_163+5827delAGGGAGAGGGAGAGGGAGAGGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31521616	TTCCCTCC others(16): Show TTCCCTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG01257.hp1 others(7): Show HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 NA18982.hp1 NA19060.hp1 NA19070.hp1 NA19085.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(3): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0022 a0003c0005t0001 a0003c0005t0003	a0002c0001t0001g0194 a0002c0001t0001g0210 a0002c0001t0002g0214 others(7): Show a0002c0001t0001g0194 a0002c0001t0001g0210 a0002c0001t0002g0214 a0002c0001t0003g0178 a0002c0001t0003g0181 a0002c0001t0022g0174 a0003c0005t0001g0185 a0003c0005t0003g0196 a0003c0005t0003g0200 a0003c0005t0003g0217	10	312	0.0321	-23	c.-98 others(40): Show c.-98+7498_-98+7520delCCCTCCTTCCTTCCTTCCTTCCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599636	TCTTTCTT others(16): Show TCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01993.hp2 others(11): Show HG00140.hp1 HG00735.hp2 HG01993.hp2 HG02080.hp1 HG02145.hp1 HG02735.hp1 HG02970.hp2 HG03490.hp2 HG03704.hp2 NA18954.hp1 NA18960.hp2 NA18995.hp2 NA19009.hp1 NA19010.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0022	a0001c0003 a0002c0001 a0003c0005 others(4): Show a0001c0003 a0002c0001 a0003c0005 a0004c0028 a0010c0029 a0010c0042 a0022c0036	a0001c0003t0001 a0001c0003t0002 a0002c0001t0003 others(7): Show a0001c0003t0001 a0001c0003t0002 a0002c0001t0003 a0002c0001t0010 a0003c0005t0003 a0003c0005t0013 a0004c0028t0003 a0010c0029t0005 a0010c0042t0005 a0022c0036t0001	a0001c0003t0001g0062 a0001c0003t0001g0070 a0001c0003t0001g0072 others(11): Show a0001c0003t0001g0062 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0230 a0001c0003t0002g0050 a0001c0003t0002g0066 a0002c0001t0003g0187 a0002c0001t0010g0274 a0003c0005t0003g0180 a0003c0005t0013g0235 a0004c0028t0003g0080 a0010c0029t0005g0024 a0010c0042t0005g0083 a0022c0036t0001g0213	14	312	0.0449	-23	c.122 others(44): Show c.1228+16452_1228+16474delTTCTTTTTCTTTCTTTCCTTTCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
JADE2_chr5_134520670_134588227	134556913	CACACACA others(16): Show CACACACACATCACACAGCACACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0024 a0001c0001t0029g0024	1	388	0.0026	-23	c.312 others(40): Show c.312-2911_312-2889delCACATCACACAGCACACAACACA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JADE2_chr5_134520670_134588227	134587997	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA20300.hp1 HG02615.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0024 a0001c0001t0029g0097 a0001c0001t0029g0024 a0001c0001t0029g0097	2	388	0.0052	-23	c.86 others(34): Show c.8681_*8703delAAAAAAAAAAAAAAAAAAAAAAA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4771		chr5	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(66): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02451.hp2 HG02602.hp2 HG02735.hp2 HG02976.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0001c0018 a0001c0019 a0001c0032 a0001c0033 a0001c0035 a0001c0052 a0001c0054 a0001c0055 a0002c0015 a0006c0053	a0001c0001t0003 a0001c0001t0022 a0001c0002t0009 others(24): Show a0001c0001t0003 a0001c0001t0022 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0019 a0001c0003t0024 a0001c0004t0003 a0001c0004t0018 a0001c0006t0003 a0001c0008t0003 a0001c0009t0003 a0001c0010t0002 a0001c0010t0003 a0001c0017t0009 a0001c0018t0003 a0001c0019t0002 a0001c0032t0003 a0001c0033t0017 a0001c0035t0002 a0001c0052t0017 a0001c0054t0003 a0001c0055t0003 a0002c0015t0010 a0006c0053t0010	a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0033 others(62): Show a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0022g0058 a0001c0002t0009g0040 a0001c0003t0001g0247 a0001c0003t0002g0114 a0001c0003t0003g0004 a0001c0003t0003g0028 a0001c0003t0003g0032 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0045 a0001c0003t0003g0050 a0001c0003t0003g0054 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0079 a0001c0003t0010g0053 a0001c0003t0019g0087 a0001c0003t0019g0088 a0001c0003t0024g0061 a0001c0004t0003g0066 a0001c0004t0003g0074 a0001c0004t0018g0064 a0001c0004t0018g0065 a0001c0006t0003g0063 a0001c0008t0003g0057 a0001c0008t0003g0059 a0001c0009t0003g0003 a0001c0009t0003g0005 a0001c0009t0003g0030 a0001c0009t0003g0031 a0001c0009t0003g0035 a0001c0009t0003g0041 a0001c0009t0003g0049 a0001c0009t0003g0052 a0001c0009t0003g0073 a0001c0010t0002g0112 a0001c0010t0002g0113 a0001c0010t0003g0034 a0001c0010t0003g0044 a0001c0010t0003g0046 a0001c0010t0003g0048 a0001c0010t0003g0051 a0001c0017t0009g0036 a0001c0017t0009g0037 a0001c0017t0009g0038 a0001c0017t0009g0039 a0001c0018t0003g0055 a0001c0019t0002g0006 a0001c0019t0002g0115 a0001c0032t0003g0027 a0001c0033t0017g0047 a0001c0035t0002g0177 a0001c0052t0017g0062 a0001c0054t0003g0072 a0001c0055t0003g0082 a0002c0015t0010g0020 a0006c0053t0010g0022	69	412	0.1675	-23	c.387 others(40): Show c.387+3131_387+3153delTTTTTTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG2_chr14_105135995_105173776	105154848	GCTACTCA others(16): Show GCTACTCAGCAGCTTGGGGTTCTC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0204 a0002c0013t0001g0204	1	364	0.0028	-23	c.788 others(38): Show c.788+691_788+713delGAGAACCCCAAGCTGCTGAGTAG	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	5/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64897523	GGGGAGGG others(16): Show GGGGAGGGAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0297 a0001c0003t0001g0297	1	326	0.0031	-23	c.-77 others(42): Show c.-77-11205_-77-11183delTCCTCCTCCTCCTCCTCCCTCCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64897526	GAGGGAGG others(16): Show GAGGGAGGAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03017.hp1 HG03831.hp1 others(2): Show HG02055.hp2 HG03017.hp1 HG03831.hp1 HG03927.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0013 a0001c0002 a0001c0003 a0003c0013	a0001c0002t0002 a0001c0003t0001 a0003c0013t0001 a0001c0002t0002 a0001c0003t0001 a0003c0013t0001	a0001c0002t0002g0069 a0001c0003t0001g0251 a0001c0003t0001g0317 others(2): Show a0001c0002t0002g0069 a0001c0003t0001g0251 a0001c0003t0001g0317 a0001c0003t0001g0325 a0003c0013t0001g0253	5	326	0.0153	-23	c.-77 others(42): Show c.-77-11208_-77-11186delTCCTCCTCCTCCTCCTCCTCCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64942670	TAGACTTC others(16): Show TAGACTTCAAGCCAAACATCAGCA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01109.hp2 others(12): Show HG00323.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02300.hp1 HG04115.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0017	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0002c0017t0002	a0001c0001t0001g0188 a0001c0003t0001g0205 a0001c0004t0002g0195 others(12): Show a0001c0001t0001g0188 a0001c0003t0001g0205 a0001c0004t0002g0195 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0002g0198 a0001c0004t0002g0199 a0001c0004t0002g0200 a0001c0004t0002g0201 a0001c0004t0002g0202 a0001c0004t0002g0203 a0001c0004t0002g0204 a0001c0004t0002g0207 a0001c0004t0002g0208 a0002c0017t0002g0206	15	326	0.0460	-23	c.-78 others(42): Show c.-78+23640_-78+23662delTGCTGATGTTTGGCTTGAAGTCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp2 HG01361.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0032 a0001c0003t0003g0052 a0001c0003t0003g0032 a0001c0003t0003g0052	2	364	0.0055	-23	c.-25 others(42): Show c.-25-16853_-25-16831delTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5130724	TTATTTTT others(16): Show TTATTTTTTTTTTTATTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0316 a0001c0003t0003g0316	1	364	0.0028	-23	c.39 others(34): Show c.3934_*3956delTATTTTTTTTTTTATTTTTTTTG	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		777		chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	414	0.0024	-23	c.320 others(40): Show c.3208-830_3208-808delTTTTTTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132061218	CGCACACA others(16): Show CGCACACATACACCTGCCGTGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(76): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19043.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0006 a0001c0013 others(29): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0032 a0001c0042 a0001c0048 a0002c0004 a0002c0005 a0002c0008 a0002c0010 a0002c0016 a0002c0025 a0002c0031 a0002c0037 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0004c0007 a0004c0011 a0004c0014 a0004c0024 a0004c0028 a0004c0030 a0004c0043 a0004c0046 a0005c0012 a0008c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0006t0003 a0001c0006t0017 a0001c0006t0025 a0001c0013t0001 a0001c0013t0016 a0001c0013t0024 a0001c0015t0005 a0001c0017t0005 a0001c0019t0001 a0001c0019t0003 a0001c0019t0015 a0001c0022t0002 a0001c0032t0037 a0001c0042t0023 a0001c0048t0013 a0002c0004t0004 a0002c0005t0001 a0002c0005t0005 a0002c0005t0010 a0002c0005t0011 a0002c0005t0019 a0002c0008t0004 a0002c0008t0018 a0002c0010t0002 a0002c0010t0009 a0002c0016t0006 a0002c0016t0014 a0002c0025t0032 a0002c0031t0039 a0002c0037t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0018t0002 a0003c0018t0003 a0003c0021t0001 a0004c0007t0001 a0004c0007t0004 a0004c0011t0001 a0004c0014t0013 a0004c0014t0031 a0004c0024t0002 a0004c0024t0006 a0004c0028t0002 a0004c0030t0030 a0004c0043t0005 a0004c0046t0007 a0005c0012t0033 a0008c0039t0002	a0001c0001t0001g0116 a0001c0001t0002g0114 a0001c0001t0002g0132 others(76): Show a0001c0001t0001g0116 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0017g0154 a0001c0006t0025g0153 a0001c0013t0001g0094 a0001c0013t0016g0155 a0001c0013t0024g0078 a0001c0015t0005g0140 a0001c0017t0005g0079 a0001c0019t0001g0152 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0022t0002g0080 a0001c0032t0037g0124 a0001c0042t0023g0126 a0001c0048t0013g0098 a0002c0004t0004g0141 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0005g0130 a0002c0005t0010g0095 a0002c0005t0011g0096 a0002c0005t0019g0138 a0002c0008t0004g0128 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0025t0032g0103 a0002c0031t0039g0088 a0002c0037t0001g0139 a0003c0002t0001g0001 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0131 a0003c0018t0002g0117 a0003c0018t0003g0015 a0003c0018t0003g0101 a0003c0021t0001g0022 a0003c0021t0001g0023 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0004g0092 a0004c0011t0001g0118 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0028t0002g0065 a0004c0030t0030g0084 a0004c0043t0005g0125 a0004c0046t0007g0091 a0005c0012t0033g0046 a0008c0039t0002g0133	79	158	0.5000	-23	c.-49 others(34): Show c.-4980_-4958delGCACACATACACCTGCCGTGACG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		4727		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132165965	CCCAAACC others(16): Show CCCAAACCAAATGTCTGTTTCATT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0118 a0004c0011t0001g0118	1	158	0.0063	-23	c.249 others(41): Show c.2491-1017_2491-995delCCAAACCAAATGTCTGTTTCATT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	21/23			chr10	TogoVar
JAM3_chr11_134064072_134157001	134154532	GGGTGGTG others(16): Show GGGTGGTGCAGCCTCACCCCTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	390	0.0026	-23	c.53 others(34): Show c.5352_*5374delGGTGGTGCAGCCTCACCCCTCCT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2532		chr11	TogoVar
JCAD_chr10_30007803_30064586	30042600	CAGATGGG others(16): Show CAGATGGGTGGCAATGGGAGGCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0061 a0025c0032t0061	a0025c0032t0061g0084 a0025c0032t0061g0084	1	398	0.0025	-23	c.281 others(40): Show c.281+4909_281+4931delCTGCCTCCCATTGCCACCCATCT	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	2/3			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63350355	TTTTATTG others(16): Show TTTTATTGCTGATTAAATACCAAC	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	310	0.0032	-23	c.333 others(42): Show c.333+29940_333+29962delGTTGGTATTTAATCAGCAATAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JOSD1_chr22_38680543_38705943	38704279	TTTTTTTG others(16): Show TTTTTTTGTTTTTTTGTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0180 a0001c0006t0003g0180	1	376	0.0027	-23	c.-41 others(34): Show c.-4134_-4112delCAAAAAAACAAAAAAACAAAAAA	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding		3337		chr22	TogoVar
JOSD2_chr19_50500998_50516191	50509949	AGGCTGAG others(16): Show AGGCTGAGGCAGGAGAATGGCATG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	376	0.0027	-23	c.146 others(38): Show c.146+314_146+336delCATGCCATTCTCCTGCCTCAGCC	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding	2/4			chr19	TogoVar
JPH3_chr16_87597508_87703156	87611681	ACAAGAAC others(16): Show ACAAGAACCACCTGGAAGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0354 a0001c0008t0001g0354	1	380	0.0026	-23	c.382 others(40): Show c.382+8159_382+8181delACCACCTGGAAGGTGTGTCAAGA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87616215	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0167 a0001c0021t0001g0167	1	380	0.0026	-23	c.382 others(42): Show c.382+12688_382+12710delGTGTGTGTGTGTGTGTGTGTGTA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4			chr16	TogoVar
JPH4_chr14_23563038_23583790	23580971	CACCCCCC others(16): Show CACCCCCCTCACCCCCCTACCCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	364	0.0028	-23	c.-29 others(34): Show c.-2986_-2964delTAGGGTAGGGGGGTGAGGGGGGT	JPH4	ENSG00000092051.18	transcript	ENST00000356300.9	protein_coding		2182		chr14	TogoVar
JTB_chr1_153969269_153982674	153979359	ACCAACAT others(16): Show ACCAACATGGAGAAACCCCGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	-23	c.-21 others(34): Show c.-2130_-2108delGAGACGGGGTTTCTCCATGTTGG	JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding		1686		chr1	TogoVar
JUP_chr17_41749609_41791711	41760747	GGCGGGGA others(16): Show GGCGGGGACTTACTATGTTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0047 a0001c0004t0003g0047	1	410	0.0024	-23	c.149 others(42): Show c.1498-1900_1498-1878delTGGCCAACATAGTAAGTCCCCGC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	8/13			chr17	TogoVar
KALRN_chr3_124028369_124731325	124726844	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0038 a0001c0023t0018g0038	1	116	0.0086	-23	c.73 others(34): Show c.7375_*7397delAAAAAAAAAAAAAAAAAAAAAAA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding		520		chr3	TogoVar
KANK3_chr19_8317584_8348262	8346369	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG02717.hp1 others(1): Show HG01261.hp1 HG02486.hp1 HG02717.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	4	406	0.0099	-23	c.-31 others(34): Show c.-3196_-3174delATATATATATATATATATATATA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3108		chr19	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01257.hp2 HG01258.hp1 others(12): Show HG01069.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01928.hp2 HG02132.hp1 HG03209.hp2 HG03942.hp2 NA18961.hp2 NA18964.hp2 NA18995.hp1 NA19002.hp2 NA19043.hp2 NA19054.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0026 a0001c0001t0001 a0001c0001t0012 a0001c0001t0026	a0001c0001t0001g0042 a0001c0001t0001g0107 a0001c0001t0001g0111 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0012g0251 a0001c0001t0026g0128	15	284	0.0528	-23	c.175 others(42): Show c.1755+5740_1755+5762delAAAAAAAAAAAAAAAAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210114817	AAAGGAAA others(16): Show AAAGGAAATGAGTTTTTATATGTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	284	0.0035	-23	c.123 others(44): Show c.1231-10539_1231-10517delAACATATAAAAACTCATTTCCTT	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	3/14			chr2	TogoVar
KAT6A_chr8_41924479_42056987	42050146	GAAAAAGA others(16): Show GAAAAAGAAATACACTGGCTACTT	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	374	0.0027	-23	c.-32 others(40): Show c.-325-867_-325-845delAAGTAGCCAGTGTATTTCTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	1/16			chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830745	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	236	0.0042	-23	c.-32 others(42): Show c.-329+3961_-329+3983delATATATATATATATATATATATA	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17			chr10	TogoVar
KATNA1_chr6_149589873_149653714	149613179	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	296	0.0034	-23	c.502 others(40): Show c.502-8420_502-8398delTTTTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNIP_chr16_27545144_27785344	27690340	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03139.hp2 HG00140.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0002 a0003c0003t0002 a0001c0005t0002 a0003c0003t0002	a0001c0005t0002g0147 a0003c0003t0002g0120 a0001c0005t0002g0147 a0003c0003t0002g0120	2	152	0.0132	-23	c.941 others(40): Show c.941-7964_941-7942delGATAGATAGATAGATAGATAGAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681651	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	146	0.0069	-23	c.226 others(42): Show c.226+82430_226+82452delATATATTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918694	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 NA18942.hp1 others(1): Show HG02486.hp1 HG03195.hp2 NA18942.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0002c0002t0001	a0001c0001t0002g0129 a0001c0001t0003g0056 a0001c0001t0020g0045 others(1): Show a0001c0001t0002g0129 a0001c0001t0003g0056 a0001c0001t0020g0045 a0002c0002t0001g0104	4	146	0.0274	-23	c.227 others(42): Show c.227-41988_227-41966delAAAAAAAAAAAAATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918696	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	146	0.0069	-23	c.227 others(42): Show c.227-41986_227-41964delAAAAAAAAAAATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918698	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01169.hp2 others(3): Show HG00323.hp2 HG00735.hp1 HG01169.hp2 HG02004.hp1 HG02976.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0035 a0001c0001t0002g0102 a0002c0002t0001g0015 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0102 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0028 a0002c0002t0001g0143	6	146	0.0411	-23	c.227 others(42): Show c.227-41984_227-41962delAAAAAAAAATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918700	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp2 NA18963.hp2 HG01099.hp1 HG02622.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0002g0101 a0001c0001t0004g0064 a0002c0002t0001g0061 a0001c0001t0002g0101 a0001c0001t0004g0064 a0002c0002t0001g0061	3	146	0.0206	-23	c.227 others(42): Show c.227-41982_227-41960delAAAAAAATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156395544	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp1 others(11): Show HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0011t0003 a0002c0004t0001 a0002c0004t0004	a0001c0001t0001g0003 a0001c0001t0001g0057 a0001c0001t0001g0088 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0004g0072 a0001c0001t0004g0099 a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0003t0001g0018 a0001c0003t0001g0021 a0001c0011t0003g0022 a0002c0004t0001g0034 a0002c0004t0004g0032	14	124	0.1129	-23	c.276 others(42): Show c.276-26053_276-26031delAAAAAAAAAAAAAAAAAAAAAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB2_chr1_6040888_6106180	6095859	TCACATCC others(16): Show TCACATCCCCCCCCCTGCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	360	0.0028	-23	c.948 others(38): Show c.948+247_948+269delCCCTGCCCCCACCACATCCCCCC	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNB2_chr8_72532225_72943349	72597001	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18612.hp2 HG00323.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0095 a0001c0001t0003g0163 a0001c0001t0002g0095 a0001c0001t0003g0163	2	164	0.0122	-23	c.579 others(42): Show c.579+28707_579+28729delTTTTTTTTTTTTTTTTTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75201276	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0314 a0001c0001t0037g0314	1	316	0.0032	-23	c.687 others(40): Show c.687+5998_687+6020delGTTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNG1_chr20_50998656_51028107	51024439	CCTGAGGC others(16): Show CCTGAGGCCTTCTGCTTGAGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0177 a0001c0002t0004g0177	1	424	0.0024	-23	c.-16 others(34): Show c.-1619_-1597delCCCACTCAAGCAGAAGGCCTCAG	KCNG1	ENSG00000026559.14	transcript	ENST00000371571.5	protein_coding		1333		chr20	TogoVar
KCNH2_chr7_150939961_150983321	150972624	ACAGAGTT others(16): Show ACAGAGTTTTCTGGGTCACAGCCC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	358	0.0028	-23	c.307 others(40): Show c.307+2064_307+2086delGGGCTGTGACCCAGAAAACTCTG	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding	2/14			chr7	TogoVar
KCNH5_chr14_62694464_63050458	62890851	TGAATAGC others(16): Show TGAATAGCTATTATTAAAAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 NA18940.hp2 others(5): Show HG02040.hp2 HG02080.hp1 NA18940.hp2 NA18950.hp2 NA18961.hp2 NA19002.hp1 NA19081.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037	a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0207 a0001c0001t0002g0084 a0001c0001t0003g0082 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0037g0106	8	224	0.0357	-23	c.137 others(44): Show c.1370-41022_1370-41000delTGACTTTTTAATAATAGCTATTC	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162456331	GAAATTAT others(16): Show GAAATTATAATTTATACATTATAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 homoSapiens_chm13v2.hp1 HG00639.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0081 a0001c0001t0001g0095	2	100	0.0200	-23	c.112 others(42): Show c.1129-9911_1129-9889delGTATAATGTATAAATTATAATTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	6/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162752905	AAAGAAAA others(16): Show AAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	100	0.0100	-23	c.307 others(42): Show c.307+83609_307+83631delCTTTTCTTTTCTTTTCTTTTCTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19534559	AATTATCA others(16): Show AATTATCACTGCATGTCATCTCCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	134	0.0075	-23	c.46 others(32): Show c.462_*484delTTATCACTGCATGTCATCTCCTA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	16/16	462	INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21291860	AAAAAAAA others(16): Show AAAAAAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	1	80	0.0125	-23	c.62- others(42): Show c.62-409174_62-409152delCTTTCTTTCTTTCTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21365514	TAAATAAA others(16): Show TAAATAAATAAAAAATAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02809.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0002g0015 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0017 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0007g0032 a0001c0001t0011g0003	5	80	0.0625	-23	c.62- others(42): Show c.62-482828_62-482806delCTTTCTTTATTTTTTATTTATTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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