Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KCNMB2_chr3_178531436_178849429	178758780	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 NA18960.hp1 others(1): Show HG02280.hp1 HG02809.hp2 NA18960.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0008	a0001c0001t0002g0221 a0001c0001t0007g0208 a0001c0002t0001g0146 others(1): Show a0001c0001t0002g0221 a0001c0001t0007g0208 a0001c0002t0001g0146 a0001c0002t0008g0018	4	232	0.0172	18	c.-67 others(37): Show c.-67-48557_-67-48556insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758782	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18963.hp1 NA18944.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0165 a0001c0002t0001g0166	2	232	0.0086	18	c.-67 others(37): Show c.-67-48555_-67-48554insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758784	T T	TATATATC others(11): Show TATATATCTCCAAAAGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	232	0.0043	18	c.-67 others(37): Show c.-67-48553_-67-48552insCTCCAAAAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TATATATC others(11): Show TATATATCTCCAAAAGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18939.hp1 HG01261.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0212 a0001c0001t0003g0139 a0001c0001t0003g0212	2	232	0.0086	18	c.-67 others(37): Show c.-67-48551_-67-48550insCTCCAAAAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758974	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	232	0.0043	18	c.-67 others(37): Show c.-67-48363_-67-48362insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758978	T T	TATATATC others(11): Show TATATATCTCCTCTTGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 NA19030.hp2 HG00280.hp2 HG01192.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0149 a0001c0001t0003g0098 a0001c0002t0001g0148 a0001c0001t0002g0149 a0001c0001t0003g0098 a0001c0002t0001g0148	3	232	0.0129	18	c.-67 others(37): Show c.-67-48359_-67-48358insCTCCTCTTGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758984	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	232	0.0043	18	c.-67 others(37): Show c.-67-48353_-67-48352insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759017	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	232	0.0043	18	c.-67 others(37): Show c.-67-48320_-67-48319insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759054	T T	TATATATC others(11): Show TATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	232	0.0043	18	c.-67 others(37): Show c.-67-48283_-67-48282insCTCCAAGAGGAGATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759060	T T	TATCTCCA others(11): Show TATCTCCAAGAGGTGATTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	232	0.0043	18	c.-67 others(37): Show c.-67-48281_-67-48280insCTCCAAGAGGTGATTGAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759089	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03490.hp2 others(2): Show HG01515.hp2 HG01517.hp1 HG03490.hp2 HG03492.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0004g0103 others(2): Show a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109	5	232	0.0216	18	c.-67 others(37): Show c.-67-48240_-67-48239insATATATATATATATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	232	0.0043	18	c.57- others(33): Show c.57-8361_57-8360insTATATATACATATATATA		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02451.hp1 others(5): Show HG01109.hp2 HG01243.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02976.hp1 HG03540.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0014 a0002c0002 a0002c0011 a0002c0014	a0002c0002t0001 a0002c0011t0001 a0002c0014t0001 a0002c0002t0001 a0002c0011t0001 a0002c0014t0001	a0002c0002t0001g0004 a0002c0002t0001g0122 a0002c0002t0001g0236 others(5): Show a0002c0002t0001g0004 a0002c0002t0001g0122 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0011t0001g0239 a0002c0011t0001g0241 a0002c0014t0001g0017	8	250	0.0320	18	c.121 others(37): Show c.1218+9640_1218+9657dupTATATATATATATATATA		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114375952	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01256.hp1 others(23): Show HG00741.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02300.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03669.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18959.hp1 NA18964.hp1 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0009 others(3): Show a0001c0001 a0002c0002 a0003c0009 a0004c0012 a0005c0004 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0003c0009t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0009t0001 a0004c0012t0001 a0005c0004t0001 a0007c0010t0001	a0001c0001t0001g0091 a0001c0001t0001g0099 a0002c0002t0001g0119 others(23): Show a0001c0001t0001g0091 a0001c0001t0001g0099 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0144 a0002c0002t0001g0152 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0169 a0002c0002t0001g0173 a0002c0002t0001g0182 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0226 a0002c0002t0001g0238 a0002c0002t0001g0249 a0003c0009t0001g0194 a0003c0009t0001g0195 a0004c0012t0001g0142 a0005c0004t0001g0176 a0007c0010t0001g0191 a0007c0010t0001g0192	26	250	0.1040	18	c.121 others(39): Show c.1218+11959_1218+11976dupATATATATATATATATAT		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114375952	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	250	0.0040	18	c.121 others(39): Show c.1218+11952_1218+11953insGTATATATATATATATAT		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114375974	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	250	0.0040	18	c.121 others(39): Show c.1218+11976_1218+11977insATATATATATATATGTAT		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114449908	A A	ACACACAC others(11): Show ACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 NA20300.hp1 HG03139.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0082	3	250	0.0120	18	c.163 others(39): Show c.1638-13140_1638-13139insACACACACACACACGCGC		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114449908	A A	ACACACAC others(11): Show ACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	250	0.0040	18	c.163 others(39): Show c.1638-13140_1638-13139insACACACACACACGCGCGC		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114449908	A A	ACACACAC others(11): Show ACACACACACGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	250	0.0040	18	c.163 others(39): Show c.1638-13140_1638-13139insACACACACGCGCGCGCGC		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAAATAT others(11): Show TTAAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0059	1	238	0.0042	18	c.144 others(37): Show c.1448+5558_1448+5559insTATATATATATATATTTA		KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7						chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG03490.hp2 others(1): Show HG02809.hp2 HG03486.hp1 HG03490.hp2 HG03942.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0004c0006	a0001c0001t0023 a0003c0003t0115 a0004c0005t0007 others(1): Show a0001c0001t0023 a0003c0003t0115 a0004c0005t0007 a0004c0006t0017	a0001c0001t0023g0060 a0003c0003t0115g0236 a0004c0005t0007g0038 others(1): Show a0001c0001t0023g0060 a0003c0003t0115g0236 a0004c0005t0007g0038 a0004c0006t0017g0045	4	238	0.0168	18	c.144 others(37): Show c.1448+5541_1448+5558dupTATATATATATATATATA		KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7						chr1	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(11): Show GGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00621.hp1 HG00741.hp1 others(25): Show HG00323.hp1 HG00621.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01175.hp1 HG02083.hp2 HG02630.hp1 HG02738.hp2 HG03486.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0005 a0004c0006 a0004c0014 a0004c0005 a0004c0006 a0004c0014	a0004c0005t0001 a0004c0005t0004 a0004c0005t0007 others(21): Show a0004c0005t0001 a0004c0005t0004 a0004c0005t0007 a0004c0005t0014 a0004c0005t0023 a0004c0005t0025 a0004c0005t0038 a0004c0005t0039 a0004c0005t0061 a0004c0005t0067 a0004c0005t0092 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0007 a0004c0006t0008 a0004c0006t0017 a0004c0006t0020 a0004c0006t0024 a0004c0006t0050 a0004c0014t0001 a0004c0014t0006 a0004c0014t0056 a0004c0014t0087	a0004c0005t0001g0053 a0004c0005t0004g0043 a0004c0005t0004g0049 others(25): Show a0004c0005t0001g0053 a0004c0005t0004g0043 a0004c0005t0004g0049 a0004c0005t0007g0038 a0004c0005t0014g0044 a0004c0005t0023g0048 a0004c0005t0025g0030 a0004c0005t0038g0033 a0004c0005t0039g0046 a0004c0005t0061g0051 a0004c0005t0067g0050 a0004c0005t0092g0029 a0004c0006t0001g0032 a0004c0006t0001g0035 a0004c0006t0002g0026 a0004c0006t0002g0041 a0004c0006t0004g0028 a0004c0006t0007g0031 a0004c0006t0008g0034 a0004c0006t0008g0040 a0004c0006t0017g0045 a0004c0006t0020g0037 a0004c0006t0024g0042 a0004c0006t0050g0036 a0004c0014t0001g0047 a0004c0014t0006g0039 a0004c0014t0056g0027 a0004c0014t0087g0052	28	238	0.1177	18	c.224 others(25): Show c.224_241dupAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln75_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2444410	G G	GGGTCGGG others(11): Show GGGTCGGGGTTTCTCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	208	0.0048	18	c.-68 others(27): Show c.-689_-688insGGTCGGGGTTTCTCGGGC		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding					597		chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2444732	T T	TGGGGGCG others(11): Show TGGGGGCGGGGGCGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0037 a0007c0011t0001g0037	1	208	0.0048	18	c.-36 others(27): Show c.-367_-366insGGGGGCGGGGGCGCAGGC		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding					275		chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2496495	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	208	0.0048	18	c.387 others(37): Show c.387-31425_387-31408dupTTTTTTTTTTTTTTTTTT		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2496874	G G	GCCTGGTG others(11): Show GCCTGGTGGTGTCAAAATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(151): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0004 a0003c0006 a0003c0010 a0004c0009 a0005c0008 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0001c0005t0001 a0001c0007t0001 a0002c0004t0002 a0003c0006t0001 a0003c0006t0004 a0003c0006t0010 a0003c0010t0001 a0004c0009t0002 a0005c0008t0002 a0007c0011t0001 a0008c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 others(151): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0003g0052 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0151 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0004g0003 a0001c0001t0004g0019 a0001c0001t0004g0143 a0001c0001t0004g0188 a0001c0001t0005g0004 a0001c0001t0005g0022 a0001c0001t0005g0050 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0198 a0001c0001t0006g0017 a0001c0001t0006g0141 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0007g0001 a0001c0001t0007g0018 a0001c0001t0007g0159 a0001c0001t0008g0095 a0001c0001t0008g0107 a0001c0001t0010g0165 a0001c0001t0012g0098 a0001c0001t0013g0207 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0176 a0001c0002t0001g0195 a0001c0002t0002g0013 a0001c0002t0002g0051 a0001c0002t0002g0083 a0001c0002t0002g0130 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0177 a0001c0002t0003g0010 a0001c0002t0004g0035 a0001c0003t0001g0062 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0099 a0001c0003t0011g0058 a0001c0005t0001g0005 a0001c0005t0001g0124 a0001c0007t0001g0085 a0001c0007t0001g0103 a0001c0007t0001g0149 a0002c0004t0002g0067 a0002c0004t0002g0070 a0002c0004t0002g0071 a0003c0006t0001g0008 a0003c0006t0004g0011 a0003c0006t0010g0012 a0003c0010t0001g0009 a0004c0009t0002g0023 a0004c0009t0002g0206 a0005c0008t0002g0064 a0007c0011t0001g0037 a0008c0012t0002g0173	154	208	0.7404	18	c.387 others(37): Show c.387-31051_387-31050insGGTGGTGTCAAAATCCCT		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2544250	A A	ATATATAT others(11): Show ATATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02572.hp1 others(7): Show HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02717.hp2 HG02809.hp2 HG02976.hp2 HG03225.hp2 HG03579.hp1 NA19030.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0003c0006t0004	a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0003g0132 others(7): Show a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0003g0132 a0001c0001t0004g0133 a0001c0001t0004g0194 a0001c0001t0005g0022 a0001c0001t0005g0181 a0001c0001t0007g0199 a0001c0001t0014g0131 a0003c0006t0004g0011	10	208	0.0481	18	c.477 others(37): Show c.477+16239_477+16240insGTGTATATATGTATATAT		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2610716	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0169 a0001c0002t0003g0169	1	208	0.0048	18	c.139 others(39): Show c.1393+21874_1393+21891dupTTTTTTTTTTTTTTTTTT		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18947.hp1 HG02015.hp1 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0003 a0001c0002t0002 a0002c0004t0003	a0001c0002t0002g0090 a0002c0004t0003g0119 a0001c0002t0002g0090 a0002c0004t0003g0119	2	208	0.0096	18	c.151 others(39): Show c.1515-35029_1515-35028insACACACACACACACACTC		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp2 HG01993.hp2 HG00323.hp2 HG01256.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0065 a0001c0001t0002g0110 a0001c0003t0001g0062 a0001c0001t0001g0065 a0001c0001t0002g0110 a0001c0003t0001g0062	3	208	0.0144	18	c.151 others(39): Show c.1515-35029_1515-35028insACACACACACACACTCTC		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63431954	A A	ATCCACCC others(11): Show ATCCACCCACAGGGAAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(131): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(15): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0028 a0002c0001 a0002c0006 a0003c0026 a0005c0027	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(62): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0002t0031 a0001c0002t0036 a0001c0002t0054 a0001c0002t0055 a0001c0002t0068 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0087 a0001c0002t0092 a0001c0002t0096 a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 a0001c0003t0029 a0001c0003t0094 a0001c0003t0102 a0001c0003t0106 a0001c0003t0107 a0001c0003t0108 a0001c0004t0089 a0001c0005t0047 a0001c0007t0007 a0001c0007t0044 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0001c0012t0052 a0001c0012t0082 a0001c0012t0095 a0001c0012t0109 a0001c0014t0007 a0001c0014t0015 a0001c0016t0002 a0001c0016t0029 a0001c0017t0050 a0001c0017t0051 a0001c0020t0012 a0001c0021t0053 a0001c0028t0091 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0063 a0002c0001t0065 a0002c0001t0076 a0002c0006t0001 a0002c0006t0016 a0002c0006t0037 a0003c0026t0097 a0005c0027t0105	a0001c0002t0002g0047 a0001c0002t0002g0082 a0001c0002t0002g0108 others(130): Show a0001c0002t0002g0047 a0001c0002t0002g0082 a0001c0002t0002g0108 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0242 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0010g0118 a0001c0002t0010g0190 a0001c0002t0010g0191 a0001c0002t0012g0028 a0001c0002t0012g0029 a0001c0002t0022g0052 a0001c0002t0023g0026 a0001c0002t0023g0103 a0001c0002t0023g0105 a0001c0002t0023g0106 a0001c0002t0031g0182 a0001c0002t0031g0184 a0001c0002t0036g0001 a0001c0002t0054g0137 a0001c0002t0055g0188 a0001c0002t0068g0033 a0001c0002t0070g0171 a0001c0002t0071g0046 a0001c0002t0072g0173 a0001c0002t0073g0020 a0001c0002t0074g0240 a0001c0002t0075g0222 a0001c0002t0083g0041 a0001c0002t0084g0254 a0001c0002t0085g0050 a0001c0002t0087g0104 a0001c0002t0092g0049 a0001c0002t0096g0039 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0298 a0001c0003t0003g0306 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0208 a0001c0003t0010g0210 a0001c0003t0010g0253 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0003t0094g0014 a0001c0003t0102g0267 a0001c0003t0106g0311 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0004t0089g0057 a0001c0005t0047g0065 a0001c0007t0007g0227 a0001c0007t0007g0228 a0001c0007t0007g0229 a0001c0007t0007g0232 a0001c0007t0007g0233 a0001c0007t0007g0234 a0001c0007t0007g0235 a0001c0007t0007g0244 a0001c0007t0044g0224 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0003g0315 a0001c0009t0098g0261 a0001c0012t0052g0043 a0001c0012t0082g0034 a0001c0012t0095g0237 a0001c0012t0109g0323 a0001c0014t0007g0226 a0001c0014t0007g0231 a0001c0014t0015g0230 a0001c0016t0002g0181 a0001c0016t0029g0295 a0001c0017t0050g0053 a0001c0017t0051g0160 a0001c0020t0012g0056 a0001c0020t0012g0203 a0001c0021t0053g0023 a0001c0028t0091g0024 a0002c0001t0001g0153 a0002c0001t0001g0186 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0243 a0002c0001t0005g0054 a0002c0001t0009g0055 a0002c0001t0009g0167 a0002c0001t0063g0209 a0002c0001t0065g0035 a0002c0001t0076g0220 a0002c0006t0001g0159 a0002c0006t0016g0270 a0002c0006t0016g0272 a0002c0006t0016g0309 a0002c0006t0037g0269 a0002c0006t0037g0271 a0003c0026t0097g0260 a0005c0027t0105g0293	134	330	0.4061	18	c.111 others(35): Show c.1119-603_1119-586dupGCCTTCCCTGTGGGTGGA		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63431955	T T	TCCACCCA others(11): Show TCCACCCACAGGGAAGGCC	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	18	c.111 others(35): Show c.1119-604_1119-587dupGGCCTTCCCTGTGGGTGG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432520	A A	ACAGAGAA others(11): Show ACAGAGAAGGCCCCACCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG01361.hp1 others(2): Show HG00099.hp2 HG01346.hp2 HG01361.hp1 HG02056.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0002t0034 a0001c0003t0022 a0001c0002t0022 a0001c0002t0034 a0001c0003t0022	a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 others(1): Show a0001c0002t0022g0002 a0001c0002t0034g0040 a0001c0002t0034g0256 a0001c0003t0022g0111	5	330	0.0152	18	c.111 others(37): Show c.1119-1152_1119-1151insAGGGTGGGGCCTTCTCTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432754	A A	ACAGGGAA others(11): Show ACAGGGAAGGCTCCACCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG00673.hp1 others(22): Show HG00323.hp2 HG00609.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02148.hp2 HG02293.hp1 HG03688.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18945.hp2 NA18962.hp1 NA18999.hp2 NA19005.hp2 NA19056.hp1 NA19080.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0002c0001 a0004c0023	a0001c0002t0002 a0001c0002t0078 a0001c0004t0110 others(11): Show a0001c0002t0002 a0001c0002t0078 a0001c0004t0110 a0001c0005t0011 a0001c0005t0030 a0001c0005t0041 a0001c0005t0045 a0001c0005t0046 a0001c0005t0048 a0001c0008t0027 a0001c0008t0028 a0002c0001t0001 a0002c0001t0006 a0004c0023t0011	a0001c0002t0002g0158 a0001c0002t0078g0246 a0001c0004t0110g0324 others(22): Show a0001c0002t0002g0158 a0001c0002t0078g0246 a0001c0004t0110g0324 a0001c0005t0011g0032 a0001c0005t0011g0109 a0001c0005t0011g0145 a0001c0005t0011g0152 a0001c0005t0011g0155 a0001c0005t0011g0241 a0001c0005t0030g0156 a0001c0005t0030g0157 a0001c0005t0041g0010 a0001c0005t0045g0143 a0001c0005t0046g0142 a0001c0005t0048g0144 a0001c0008t0027g0276 a0001c0008t0027g0310 a0001c0008t0027g0312 a0001c0008t0028g0277 a0001c0008t0028g0285 a0001c0008t0028g0289 a0002c0001t0001g0151 a0002c0001t0006g0140 a0002c0001t0006g0141 a0004c0023t0011g0251	25	330	0.0758	18	c.111 others(37): Show c.1118+1037_1118+1054dupAGGGTGGAGCCTTCCCTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432794	G G	GGAAGGAT others(11): Show GGAAGGATCCACCCACAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(24): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02165.hp2 HG02683.hp1 HG03017.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA18946.hp1 NA19011.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0028 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0001c0002t0031 others(9): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0031 a0001c0002t0054 a0001c0002t0055 a0001c0002t0092 a0001c0003t0029 a0001c0005t0047 a0001c0016t0002 a0001c0016t0029 a0001c0028t0091 a0002c0001t0076	a0001c0002t0002g0047 a0001c0002t0002g0082 a0001c0002t0002g0108 others(24): Show a0001c0002t0002g0047 a0001c0002t0002g0082 a0001c0002t0002g0108 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0242 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0031g0182 a0001c0002t0031g0184 a0001c0002t0054g0137 a0001c0002t0055g0188 a0001c0002t0092g0049 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0005t0047g0065 a0001c0016t0002g0181 a0001c0016t0029g0295 a0001c0028t0091g0024 a0002c0001t0076g0220	27	330	0.0818	18	c.111 others(37): Show c.1118+1014_1118+1015insTCTGTGGGTGGATCCTTC		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63432801	C C	CCCACCCT others(11): Show CCCACCCTCAGGGAAGGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0002 a0001c0002t0022g0002	1	330	0.0030	18	c.111 others(36): Show c.1118+990_1118+1007dupAGCCTTCCCTGAGGGTGG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCATCACC others(11): Show CCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0075 a0002c0001t0006g0075	1	330	0.0030	18	c.691 others(33): Show c.691-126_691-125insATGGTGGTGGTGGTGATG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442719	C C	CCACCACC others(11): Show CCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0033 a0001c0002t0068g0033	1	330	0.0030	18	c.691 others(33): Show c.691-189_691-188insATGGTGATGGTGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03540.hp1 NA18971.hp1 others(1): Show HG01071.hp2 HG03540.hp1 NA18971.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0033	a0001c0001t0001g0014 a0001c0001t0002g0114 a0001c0001t0011g0002 others(1): Show a0001c0001t0001g0014 a0001c0001t0002g0114 a0001c0001t0011g0002 a0001c0001t0033g0031	4	176	0.0227	18	c.126 others(37): Show c.1262+9257_1262+9274dupAAAAAAAAAAAAAAAAAA		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132186946	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0051 a0001c0001t0020g0051	1	176	0.0057	18	c.387 others(33): Show c.387-766_387-765insGTCTCTCTCTCTCTCTCT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132186948	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0067 a0001c0001t0012g0067	1	176	0.0057	18	c.387 others(33): Show c.387-768_387-767insGTCTCTCTCTCTCTCTCT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132186950	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 HG03834.hp1 HG01891.hp2 HG02015.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0069 a0002c0002t0003 a0001c0001t0012 a0001c0001t0069 a0002c0002t0003	a0001c0001t0012g0079 a0001c0001t0069g0073 a0002c0002t0003g0161 a0001c0001t0012g0079 a0001c0001t0069g0073 a0002c0002t0003g0161	3	176	0.0171	18	c.387 others(33): Show c.387-770_387-769insGTCTCTCTCTCTCTCTCT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132283092	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0137 a0001c0001t0016g0137	1	176	0.0057	18	c.387 others(37): Show c.387-96929_387-96912dupACACACACACACACACAC		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132357007	T T	TAACAACA others(11): Show TAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0076 a0001c0001t0068 a0001c0001t0076	a0001c0001t0068g0056 a0001c0001t0076g0063 a0001c0001t0068g0056 a0001c0001t0076g0063	2	176	0.0114	18	c.386 others(39): Show c.386+123122_386+123139dupGTTGTTGTTGTTGTTGTT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG04199.hp2 HG02809.hp1 HG02976.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0031 a0001c0001t0004 a0001c0001t0018 a0001c0001t0031	a0001c0001t0004g0061 a0001c0001t0018g0033 a0001c0001t0031g0165 a0001c0001t0004g0061 a0001c0001t0018g0033 a0001c0001t0031g0165	3	176	0.0171	18	c.386 others(37): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132448502	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02451.hp2 HG02723.hp2 others(3): Show HG02056.hp1 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG03225.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0001c0001t0050 a0001c0001t0073 others(3): Show a0001c0001t0018 a0001c0001t0050 a0001c0001t0073 a0001c0001t0076 a0001c0001t0097 a0002c0002t0001	a0001c0001t0018g0035 a0001c0001t0050g0042 a0001c0001t0073g0076 others(3): Show a0001c0001t0018g0035 a0001c0001t0050g0042 a0001c0001t0073g0076 a0001c0001t0076g0063 a0001c0001t0097g0149 a0002c0002t0001g0013	6	176	0.0341	18	c.386 others(37): Show c.386+31627_386+31644dupTTTTTTTTTTTTTTTTTT		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ4_chr1_40778787_40845452	40780118	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG03225.hp2 HG00738.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0005 a0001c0013 a0002c0005	a0001c0013t0002 a0002c0005t0001 a0001c0013t0002 a0002c0005t0001	a0001c0013t0002g0342 a0002c0005t0001g0218 a0001c0013t0002g0342 a0002c0005t0001g0218	2	372	0.0054	18	c.-39 others(29): Show c.-3976_-3975insACACACACACACACACAC		KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding					3668		chr1	TogoVar
KCNQ5_chr6_72617064_73203853	72623391	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18966.hp1 HG03041.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0073 a0001c0001t0005g0074	2	80	0.0250	18	c.398 others(33): Show c.398+823_398+840dupGTGTGTGTGTGTGTGTGT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72658578	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0075 a0001c0001t0022g0075	1	80	0.0125	18	c.398 others(37): Show c.398+35992_398+35993insATATATATATATATATTT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG02293.hp2 others(2): Show HG00597.hp2 HG00741.hp2 HG02293.hp2 HG02559.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0038 a0001c0002t0010 others(2): Show a0001c0001t0004 a0001c0001t0038 a0001c0002t0010 a0001c0002t0030 a0001c0010t0039	a0001c0001t0004g0045 a0001c0001t0038g0021 a0001c0002t0010g0028 others(2): Show a0001c0001t0004g0045 a0001c0001t0038g0021 a0001c0002t0010g0028 a0001c0002t0030g0059 a0001c0010t0039g0027	5	80	0.0625	18	c.399 others(39): Show c.399-151264_399-151247dupTATATATATATATATATA		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar

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