Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	322	0.0031	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	322	0.0031	47	c.852 others(62): Show c.852+587_852+588insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1366575	A A	AGCGGGGG others(40): Show AGCGGGGGTGCGCGGGGTGAGCCGGGGTGCGCGGGTGAGCCGGGGTGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	115	0.0087	47	c.874 others(64): Show c.874+1329_874+1330insGTGCGCGGGGTGAGCCGGGGTGCGCGGG TGAGCCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366944	C C	CGGGGGTG others(40): Show CGGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	115	0.0087	47	c.874 others(64): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCCGGGTGCGCGGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366947	G G	GGGTGAGC others(40): Show GGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	115	0.0087	47	c.874 others(64): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCCGGGTGCGCGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366953	C C	CGGGGTGC others(40): Show CGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGGTGCGCG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0050 a0003c0005t0002g0050	1	115	0.0087	47	c.874 others(64): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGGTGCGCGGGGGTGCGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366962	C C	CCGGGTGA others(40): Show CCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGGTGCGCGGGGTGCGCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02738.hp2 HG01346.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0053 a0001c0001t0001g0001 a0001c0001t0002g0053	2	115	0.0174	47	c.874 others(64): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGGTGCGCGGGGTGCGCG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IMPACT_chr18_24421670_24458531	24422765	T T	TAGCTGGA others(40): Show TAGCTGGAGCCCTCAGTCAATTACTCTTCCTGCTGTCTAAGATCGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18747.hp1 HG02015.hp2 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0131 a0002c0002t0002g0132	2	402	0.0050	47	c.-39 others(58): Show c.-3992_-3991insAGCTGGAGCCCTCAGTCAATTACTCTTCCTGCTG TCTAAGATCGAAG	IMPACT	ENSG00000154059.11	transcript	ENST00000284202.9	protein_coding		3904		chr18	TogoVar
INPP5A_chr10_132532787_132788480	132714588	G G	GCAGCACC others(40): Show GCAGCACCAGGCCCAGGAGGGAGGGCAGGTCCCAGCCCTGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	204	0.0049	47	c.647 others(64): Show c.647+4133_647+4179dupCAGCACCAGGCCCAGGAGGGAGGGCAGG TCCCAGCCCTGGAGGAGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	346	0.0029	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	346	0.0029	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	346	0.0058	47	c.281 others(64): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0332 a0001c0002t0008g0332	1	358	0.0028	47	c.429 others(62): Show c.429+508_429+509insATATATATATATATATATATACATATATAT ATATATATATATATATT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTS9_chr8_28762661_28894969	28881674	C C	CCGGCCAG others(40): Show CCGGCCAGCCGCCCCGTACGGGAGGGAGGCGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0349 a0001c0003t0001g0351 a0001c0001t0002g0349 a0001c0003t0001g0351	2	358	0.0056	47	c.9+8 others(60): Show c.9+8199_9+8200insACCCCCCCCCCCCCCCCCGCCTCCCTCCCGTA CGGGGCGGCTGGCCG	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	314	0.0032	47	c.85- others(62): Show c.85-5948_85-5947insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	314	0.0032	47	c.85- others(62): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCG_chr3_197884077_197964991	197884581	G G	GCCCGGCC others(40): Show GCCCGGCCTCTGAGGGTGCTGGGATTACAGGCCGTGAGCCACTTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	280	0.0036	47	c.49 others(58): Show c.4998_*4999insGCGCAAGTGGCTCACGGCCTGTAATCCCAGCACC CTCAGAGGCCGGG	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		4495		chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	244	0.0041	47	c.690 others(64): Show c.690+9500_690+9501insAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149726127	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0119 a0010c0011t0001g0119	1	252	0.0040	47	c.385 others(64): Show c.385+7116_385+7117insTCTTTCTTTCTTTCTTTCTCTCTCTTTC TTTCTTTCTTTCTTTCTTT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	5/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76702706	G G	GCCTTATT others(40): Show GCCTTATTTGCCGAAAACCAGTGCCAGCCTTATTTGCCAATATTTGTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0183 a0001c0003t0004g0183	1	222	0.0045	47	c.461 others(64): Show c.4614+127_4614+128insGAAAACCAGTGCCAGCCTTATTTGCCAA TATTTGTTCCTTATTTGCC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	35/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IREB2_chr15_78433216_78506453	78503325	T T	TTTTTGTT others(40): Show TTTTTGTTTTTTGTTTGGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	420	0.0024	47	c.51 others(58): Show c.5182_*5183insTTTTGTTTTTTGTTTGGTTTTTTTTTTTGTTTTT TTTTTTTTTTTTC	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		1873		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400809	T T	TAATATTA others(40): Show TAATATTATATATTATATAATAAATAATATTATATATTATATAATAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0076 a0004c0076	a0004c0076t0015 a0004c0076t0015	a0004c0076t0015g0115 a0004c0076t0015g0115	1	242	0.0041	47	c.164 others(64): Show c.164+2108_164+2109insTTTATTATATAATATATAATATTATTTA TTATATAATATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGB1_chr10_32895318_32963230	32895484	C C	CATCTCCA others(40): Show CATCTCCACTATTTCCAAAATTTTTTCACCATCCCAAACAGAACTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	424	0.0024	47	c.60 others(58): Show c.6085_*6086insTAGAGTTCTGTTTGGGATGGTGAAAAAATTTTGG AAATAGTGGAGAT	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		4833		chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(40): Show TCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18952.hp2 HG01074.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0302 a0001c0003t0001g0285 a0001c0001t0001g0302 a0001c0003t0001g0285	2	374	0.0054	47	c.254 others(64): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGGAGAGGG GAGAGGGAGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITIH5_chr10_7554270_7671966	7566764	A A	AGAGAGAA others(40): Show AGAGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18961.hp2 NA18983.hp2 others(1): Show NA18952.hp1 NA18961.hp2 NA18983.hp2 NA19070.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0003c0005 a0004c0007 a0003c0002 a0003c0005 a0004c0007	a0003c0002t0001 a0003c0005t0001 a0004c0007t0001 a0003c0002t0001 a0003c0005t0001 a0004c0007t0001	a0003c0002t0001g0036 a0003c0002t0001g0175 a0003c0005t0001g0317 others(1): Show a0003c0002t0001g0036 a0003c0002t0001g0175 a0003c0005t0001g0317 a0004c0007t0001g0120	4	342	0.0117	47	c.215 others(64): Show c.2150-358_2150-357insCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26506989	A A	AATAAATC others(40): Show AATAAATCATTTCATTTCTTTAGTGTTCATTGCTACATTAAAAATTAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0098 a0001c0045t0001g0098	1	142	0.0070	47	c.507 others(68): Show c.5074-11776_5074-11730dupATAATTTTTAATGTAGCAATGAAC ACTAAAGAAATGAAATGATTTAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(40): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp1 NA18990.hp2 others(2): Show NA18941.hp1 NA18942.hp1 NA18990.hp2 NA18998.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0218	5	233	0.0215	47	c.130 others(66): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0086 a0001c0001t0020g0086	1	250	0.0040	47	c.-14 others(68): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132160001	G G	GGGGTTCT others(40): Show GGGGTTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0002 a0006c0044t0002	a0006c0044t0002g0031 a0006c0044t0002g0031	1	158	0.0063	47	c.222 others(66): Show c.2221-3205_2221-3204insTTCTCCCTGTGTGATGCTGGGGGCGT GTCTTCCTGTGTGATGCTGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160602	G G	GGGCCTCT others(40): Show GGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGACGCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02922.hp1 HG02027.hp2 HG02922.hp1	a0002 a0003 a0002 a0003	a0002c0010 a0003c0021 a0002c0010 a0003c0021	a0002c0010t0009 a0003c0021t0001 a0002c0010t0009 a0003c0021t0001	a0002c0010t0009g0087 a0003c0021t0001g0032 a0002c0010t0009g0087 a0003c0021t0001g0032	2	158	0.0127	47	c.222 others(66): Show c.2221-2605_2221-2604insCCTCTCGCTGTGTGATGCTGGGGGCG TGTCTTCCTGTGTGACGCTGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(40): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02486.hp2 others(4): Show HG01891.hp2 HG02109.hp1 HG02486.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0005 a0001c0002t0039 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0039 a0001c0007t0001	a0001c0001t0002g0159 a0001c0001t0002g0216 a0001c0001t0002g0225 others(4): Show a0001c0001t0002g0159 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0240 a0001c0002t0005g0130 a0001c0002t0039g0243 a0001c0007t0001g0218	7	284	0.0247	47	c.670 others(62): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KANSL1_chr17_46024916_46198429	46052964	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	321	0.0031	47	c.184 others(66): Show c.1849-2261_1849-2260insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KAZN_chr1_14593685_15123043	14883354	G G	GGGAGGGA others(40): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	146	0.0069	47	c.227 others(66): Show c.227-77330_227-77329insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGGGAGGG others(40): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0096 a0001c0001t0016g0096	1	146	0.0069	47	c.227 others(66): Show c.227-77329_227-77328insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGAGAGAGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KCNIP1_chr5_170499020_170741632	170503724	T T	TCACACAC others(40): Show TCACACACACACACACACACACACGCACGCACATCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0029 a0001c0001t0004g0030	2	218	0.0092	47	c.-84 others(56): Show c.-849_-848insCACACACACACACACACACACACGCACGCACATCAC ACACACACACA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding		295		chr5	TogoVar
KCNIP4_chr4_20723606_21953772	21234070	A A	ATATAACA others(40): Show ATATAACATATATAACACATAACATATATAACATAACATATATAACAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	80	0.0125	47	c.62- others(66): Show c.62-351362_62-351361insATGTTATATATGTTATGTTATATATG TTATGTGTTATATATGTTATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(40): Show TTATATATATATATATATATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	408	0.0025	47	c.1-7 others(60): Show c.1-7144_1-7143insTAATATATATATATATATATATATATATATAT ATATATATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230588	T T	TATATATA others(40): Show TATATATATATATATATAGCCATATATATATATATATACAAGACCGTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	260	0.0039	47	c.964 others(64): Show c.964-4223_964-4222insGCCATATATATATATATATACAAGACCG TAATATATATATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	432	0.0023	47	c.-12 others(58): Show c.-1284_-1283insATATATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNQ4_chr1_40778787_40845452	40817361	T T	TGCTGGGA others(40): Show TGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	372	0.0027	47	c.405 others(61): Show c.405+73_405+119dupGGGGGGCTGTGTGAGGTAGCACCTCTGGGCT GGGAGTCCGGGACTGA	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ4_chr1_40778787_40845452	40817428	G G	GGGGGGCT others(40): Show GGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGAAGTCCGGGACTGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0131 a0001c0002t0017g0131	1	372	0.0027	47	c.405 others(62): Show c.405+105_405+106insAAGTCCGGGACTGAAGGGGGCTGTGTGAGG TAGCACCTCTGGGCTGG	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ4_chr1_40778787_40845452	40817475	A A	AGGGGGCT others(40): Show AGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00621.hp1 others(60): Show HG00140.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02970.hp1 HG03017.hp1 HG03225.hp1 HG03654.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0002c0014t0001	a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0001g0253 others(60): Show a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0004g0058 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0045 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0003t0001g0023 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0121 a0001c0003t0001g0125 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0158 a0001c0003t0001g0167 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0226 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0269 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0286 a0001c0003t0001g0289 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0001g0309 a0001c0003t0001g0312 a0001c0003t0001g0320 a0001c0003t0002g0267 a0001c0003t0003g0086 a0001c0003t0003g0174 a0001c0003t0003g0268 a0001c0003t0003g0280 a0001c0003t0003g0310 a0001c0003t0004g0251 a0001c0003t0004g0256 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0285 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0321 a0001c0003t0009g0281 a0002c0014t0001g0311	63	372	0.1694	47	c.405 others(62): Show c.405+127_405+173dupTGTGTGAGGTAGCACCTCTGGGCTGGGAGT CCGGGACTGAGGGGGGC	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ4_chr1_40778787_40845452	40817492	A A	AGCACCTC others(40): Show AGCACCTCTGGGCTGGGAGTCCGGGAATGAGGGGGGCTGTGTGAGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0055 a0001c0002t0019g0055	1	372	0.0027	47	c.405 others(62): Show c.405+162_405+163insATGAGGGGGGCTGTGTGAGGTGGCACCTCT GGGCTGGGAGTCCGGGA	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ5_chr6_72617064_73203853	72941550	T T	TCTTCCCT others(40): Show TCTTCCCTCCCTCCTTCCTTCCTCCTTCCCTCCCTTCCTTCCTTCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00741.hp2 others(9): Show HG00438.hp1 HG00639.hp2 HG00741.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02451.hp2 NA18944.hp1 NA18944.hp2 NA18954.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0016 a0001c0010t0039	a0001c0001t0002g0005 a0001c0001t0003g0011 a0001c0001t0005g0014 others(9): Show a0001c0001t0002g0005 a0001c0001t0003g0011 a0001c0001t0005g0014 a0001c0001t0006g0022 a0001c0001t0035g0033 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0002g0072 a0001c0002t0005g0063 a0001c0002t0010g0052 a0001c0002t0016g0044 a0001c0010t0039g0027	12	80	0.1500	47	c.399 others(66): Show c.399-62324_399-62323insTCCTTCCTTCCCCCTTCCCTCCCTCC TTCCTTCCTCCTTCCCTCCCT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD8_chr4_44168903_44453809	44296339	A A	AGAGAAGA others(40): Show AGAGAAGACCTTTAAGAGAAGACCTGTAATTGTAATTAAGAGAAGACC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	294	0.0034	47	c.962 others(68): Show c.962-121090_962-121089insGGTCTTCTCTTAATTACAATTACA GGTCTTCTCTTAAAGGTCTTCTC	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM4C_chr9_6752973_7180648	7052908	A A	ACAGCGAG others(40): Show ACAGCGAGCGAGCGAGTGAGTGAGAGATTGTTGTACAGTGGGGTGCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG00741.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0008 a0001c0027t0001 a0001c0002t0008 a0001c0027t0001	a0001c0002t0008g0124 a0001c0027t0001g0122 a0001c0002t0008g0124 a0001c0027t0001g0122	2	266	0.0075	47	c.242 others(66): Show c.2424+3708_2424+3709insCAGCGAGCGAGCGAGTGAGTGAGAGA TTGTTGTACAGTGGGGTGCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM4C_chr9_6752973_7180648	7052909	G G	GAGCGAGA others(40): Show GAGCGAGAGAGCGAGCGAGCGAGAGATTGTTGTACAGTGGGGTGCTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp2 HG02132.hp1 others(2): Show HG01123.hp1 HG01192.hp2 HG02132.hp1 HG04204.hp1 NA21309.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0002 a0004c0005 a0018c0030 a0001c0002 a0004c0005 a0018c0030	a0001c0002t0002 a0004c0005t0001 a0004c0005t0002 others(1): Show a0001c0002t0002 a0004c0005t0001 a0004c0005t0002 a0018c0030t0001	a0001c0002t0002g0146 a0004c0005t0001g0103 a0004c0005t0001g0165 others(2): Show a0001c0002t0002g0146 a0004c0005t0001g0103 a0004c0005t0001g0165 a0004c0005t0002g0008 a0018c0030t0001g0153	5	266	0.0188	47	c.242 others(66): Show c.2424+3709_2424+3710insAGCGAGAGAGCGAGCGAGCGAGAGAT TGTTGTACAGTGGGGTGCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	17/21			chr9	TogoVar
KDM5A_chr12_275057_394320	389573	A A	AGGCGGGG others(40): Show AGGCGGGGCGAGGCGGGGCGAGGCGGGGCGAGGCGGGGCGAGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0342 a0001c0001t0030g0342	1	350	0.0029	47	c.-48 others(56): Show c.-483_-482insCCCCGCCTCGCCCCGCCTCGCCCCGCCTCGCCCCGC CTCGCCCCGCC	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding		254		chr12	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCAACCAC others(40): Show CCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19064.hp1 HG02056.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0142 a0001c0001t0040 a0001c0001t0142	a0001c0001t0040g0347 a0001c0001t0142g0044 a0001c0001t0040g0347 a0001c0001t0142g0044	2	398	0.0050	47	c.64+ others(64): Show c.64+11743_64+11744insTGGTTGGGGGGTGGAGAGGGATCTCTCA GGTGAGTGTTTGGTGGTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33435798	A A	ATATATAT others(40): Show ATATATATATAATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0066 a0001c0015t0066	a0001c0015t0066g0115 a0001c0015t0066g0115	1	226	0.0044	47	c.238 others(66): Show c.238+58919_238+58920insATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTATATATATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar

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