Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXRED1_chr11_126264154_126283126	126282932	GCTGGCAG others(81): Show GCTGGCAGGGGCTCGGGCCGCAGTGGACACAGGGGCTGCCCCGTCCCGCG TCTCCCGCAGCCGGATTGTGCCCGAGAGTCTCCCGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	388	0.0026	-88	c.52 others(99): Show c.5244_*5331delCTGGCAGGGGCTCGGGCCGCAGTGGACACAGGGG CTGCCCCGTCCCGCGTCTCCCGCAGCCGGATTGTGCCCGAGAGTCTCCCG GGTC	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding		4807		chr11	TogoVar
FRK_chr6_115926149_116065891	115958634	GGAAAGAA others(81): Show GGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02257.hp2 HG02572.hp2 others(3): Show HG00558.hp1 HG02257.hp2 HG02572.hp2 HG02647.hp1 HG03579.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0019	a0001c0001t0001g0169 a0002c0002t0001g0005 a0002c0002t0001g0013 others(3): Show a0001c0001t0001g0169 a0002c0002t0001g0005 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0005g0059 a0002c0002t0019g0176	6	140	0.0429	-88	c.800 others(105): Show c.800-2112_800-2025delTTTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTC	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FUNDC1_chrX_44518639_44547859	44531247	AACACACA others(81): Show AACACACACACACACACACACACACACACACACACACACGGCTTTCAGAT GAAGATTCATGTTGGCCAGACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01071.hp1 others(63): Show HG00438.hp2 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 NA18947.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0228	66	276	0.2391	-88	c.262 others(105): Show c.262-3970_262-3883delGTGTGTGTGTGTGTGTGTGTCTGGCCAA CATGAATCTTCATCTGAAAGCCGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4			chrX	TogoVar
FUT10_chr8_33365824_33478146	33423764	CTACCAAT others(81): Show CTACCAATATGGTCCATAACTGAGAAGGGTCTATTTCTCTTTAGGCACAC CAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	266	0.0038	-88	c.376 others(107): Show c.376+29364_376+29451delATGGCTCTTTTTTTTTTTTTTTTTTT TTTTTTTTACTTGGTGTGCCTAAAGAGAAATAGACCCTTCTCAGTTATGG ACCATATTGGTA	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	3/4			chr8	TogoVar
GATA5_chr20_62458497_62480995	62477165	TCTCGGAG others(81): Show TCTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAAAGTTCTTT TTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02602.hp2 HG03540.hp2 others(2): Show HG02486.hp1 HG02602.hp2 HG03540.hp2 NA18947.hp1 NA19058.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0030 a0004c0010 a0001c0004 a0002c0030 a0004c0010	a0001c0004t0007 a0002c0030t0003 a0004c0010t0001 a0001c0004t0007 a0002c0030t0003 a0004c0010t0001	a0001c0004t0007g0265 a0001c0004t0007g0269 a0002c0030t0003g0278 others(1): Show a0001c0004t0007g0265 a0001c0004t0007g0269 a0002c0030t0003g0278 a0004c0010t0001g0018	5	375	0.0133	-88	c.-13 others(99): Show c.-1345_-1258delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAA AGAAAAAAGAACTTTCATGGCCACCACGCCTGGGTCCACCCGGTGTGCTC CGAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1171		chr20	TogoVar
GDF2_chr10_47317454_47332588	47329256	GTGGGGTG others(81): Show GTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGACGTGGTGTG TGCACACAGAGGGGGGTGAGTGATGTGGTGTGTGCACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00741.hp2 others(28): Show HG00140.hp2 HG00738.hp1 HG00741.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp1 NA18939.hp2 NA18953.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0019g0009	31	412	0.0752	-88	c.34 others(99): Show c.3473_*3560delTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGT GAGTGACGTGGTGTGTGCACACAGAGGGGGGTGAGTGATGTGGTGTGTGC ACAC	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1669		chr10	TogoVar
GFPT2_chr5_180295698_180358336	180296867	ACACACAC others(81): Show ACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACACACA CGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01106.hp1 HG01257.hp1 others(26): Show HG00423.hp2 HG01106.hp1 HG01257.hp1 HG01346.hp1 HG02071.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA18946.hp1 NA18960.hp2 NA18966.hp2 NA19002.hp2 NA19004.hp2 NA19043.hp1 NA19060.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0002c0002 a0002c0007 a0002c0015 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(11): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0001 a0001c0005t0003 a0001c0005t0019 a0001c0009t0001 a0002c0002t0002 a0002c0002t0012 a0002c0007t0001 a0002c0015t0001 a0003c0006t0001 a0003c0013t0001	a0001c0001t0001g0196 a0001c0001t0001g0345 a0001c0004t0001g0055 others(25): Show a0001c0001t0001g0196 a0001c0001t0001g0345 a0001c0004t0001g0055 a0001c0004t0001g0188 a0001c0004t0001g0352 a0001c0004t0003g0183 a0001c0004t0008g0028 a0001c0005t0001g0219 a0001c0005t0003g0103 a0001c0005t0003g0209 a0001c0005t0003g0213 a0001c0005t0003g0260 a0001c0005t0003g0268 a0001c0005t0019g0361 a0001c0009t0001g0180 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0137 a0002c0002t0012g0026 a0002c0007t0001g0211 a0002c0015t0001g0013 a0003c0006t0001g0235 a0003c0006t0001g0236 a0003c0006t0001g0237 a0003c0006t0001g0238 a0003c0006t0001g0244 a0003c0013t0001g0239 a0003c0013t0001g0240	29	410	0.0707	-88	c.46 others(99): Show c.4609_*4696delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3830		chr5	TogoVar
GNG7_chr19_2506219_2707694	2674196	CAGAGGTT others(81): Show CAGAGGTTGCGGTGAGCCGAGATCACCCCACTGCACTCTAGCCTGAGCAA CAGAGTGAGACTCCATCTCAAAAACAAAACAAACAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp1 HG01346.hp2 others(9): Show HG00733.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG02145.hp1 HG02559.hp1 HG02735.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 others(9): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0044 a0001c0001t0069 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096	a0001c0001t0008g0029 a0001c0001t0013g0022 a0001c0001t0014g0026 others(9): Show a0001c0001t0008g0029 a0001c0001t0013g0022 a0001c0001t0014g0026 a0001c0001t0019g0155 a0001c0001t0022g0031 a0001c0001t0024g0027 a0001c0001t0044g0193 a0001c0001t0069g0018 a0001c0001t0091g0157 a0001c0001t0093g0030 a0001c0001t0094g0190 a0001c0001t0096g0028	12	204	0.0588	-88	c.-13 others(109): Show c.-134-28004_-134-27917delTTCTTGTTTGTTTTGTTTTTGAGA TGGAGTCTCACTCTGTTGCTCAGGCTAGAGTGCAGTGGGGTGATCTCGGC TCACCGCAACCTCT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132787567	TGAGACCC others(81): Show TGAGACCCCGGGACCCCTCCCCAGAACCCCTGGGACCCTTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG00438.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0055 a0001c0001t0003 a0001c0001t0055	a0001c0001t0003g0049 a0001c0001t0055g0048 a0001c0001t0003g0049 a0001c0001t0055g0048	2	286	0.0070	-88	c.281 others(105): Show c.2812-868_2812-781delCGGGGAGGGGTCCCGTGGTCTCCGGGGA GGGGTCCCGGGGTCTCCGGGGAAGGGTCCCAGGGGTTCTGGGGAGGGGTC CCGGGGTCTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787605	TTCCCCGG others(81): Show TTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCC GGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp1 HG01517.hp1 others(3): Show HG01074.hp2 HG01515.hp1 HG01517.hp1 HG03654.hp2 HG03927.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0008 a0001c0009 a0002c0008	a0001c0009t0002 a0001c0009t0049 a0001c0009t0058 others(1): Show a0001c0009t0002 a0001c0009t0049 a0001c0009t0058 a0002c0008t0002	a0001c0009t0002g0242 a0001c0009t0002g0265 a0001c0009t0002g0281 others(3): Show a0001c0009t0002g0242 a0001c0009t0002g0265 a0001c0009t0002g0281 a0001c0009t0049g0266 a0001c0009t0058g0264 a0002c0008t0002g0177	6	197	0.0305	-88	c.281 others(105): Show c.2812-906_2812-819delGGGGTCCCGGGGTCTCCGGGGAGGGGTC CCGGGGTCTCCGGGGAGGGGTCCCGTGGTCTCCGGGGAGGGGTCCCGGGG TCTCCGGGGA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787640	ACGGGACC others(81): Show ACGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGA CCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00642.hp1 others(54): Show HG00423.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01891.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02602.hp2 HG02622.hp2 HG02809.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18970.hp1 NA18975.hp2 NA18980.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19082.hp1 NA19083.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0010 a0016	a0001c0003 a0001c0009 a0002c0002 others(5): Show a0001c0003 a0001c0009 a0002c0002 a0002c0008 a0005c0012 a0009c0030 a0010c0027 a0016c0037	a0001c0003t0002 a0001c0009t0002 a0002c0002t0002 others(18): Show a0001c0003t0002 a0001c0009t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0034 a0002c0002t0050 a0002c0002t0052 a0002c0002t0053 a0002c0002t0056 a0002c0002t0060 a0002c0008t0006 a0002c0008t0011 a0002c0008t0046 a0005c0012t0021 a0009c0030t0002 a0010c0027t0012 a0016c0037t0002	a0001c0003t0002g0258 a0001c0009t0002g0262 a0001c0009t0002g0294 others(54): Show a0001c0003t0002g0258 a0001c0009t0002g0262 a0001c0009t0002g0294 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0244 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0260 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0293 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0305 a0002c0002t0003g0303 a0002c0002t0007g0299 a0002c0002t0012g0245 a0002c0002t0012g0271 a0002c0002t0015g0274 a0002c0002t0015g0276 a0002c0002t0016g0231 a0002c0002t0016g0283 a0002c0002t0034g0291 a0002c0002t0050g0300 a0002c0002t0052g0282 a0002c0002t0053g0302 a0002c0002t0056g0257 a0002c0002t0060g0247 a0002c0008t0006g0052 a0002c0008t0006g0185 a0002c0008t0006g0186 a0002c0008t0011g0178 a0002c0008t0046g0184 a0005c0012t0021g0232 a0005c0012t0021g0233 a0009c0030t0002g0248 a0010c0027t0012g0292 a0016c0037t0002g0297	57	118	0.4831	-88	c.281 others(105): Show c.2812-941_2812-854delGGGTCTCCGGGGAGGGGTCCCGGGGTCT CCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGG AGGGGTCCCG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787706	CCGGGACC others(81): Show CCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGA CCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCA	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02683.hp2 NA18612.hp1 HG02293.hp2 HG02683.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0051 a0002c0002t0002 a0002c0002t0051	a0002c0002t0002g0238 a0002c0002t0002g0261 a0002c0002t0051g0301 a0002c0002t0002g0238 a0002c0002t0002g0261 a0002c0002t0051g0301	3	277	0.0108	-88	c.281 others(106): Show c.2812-1007_2812-920delTGGTCTCCGGGGAGGGGTCCCGTGGTC TCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGG GAGGGGTCCCG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GPC6_chr13_93221807_94413020	93231314	CATATATA others(81): Show CATATATATATATATACGTATATATATATATACATATATATATATACGTA TATATATATATATATACATATATATATATATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0004g0033 a0001c0001t0004g0042	2	49	0.0408	-88	c.160 others(105): Show c.160+3714_160+3801delCGTATATATATATATACATATATATATA TACGTATATATATATATATATACATATATATATATATATGTATATATATA TATATATATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346378	GGACCTGG others(81): Show GGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGG CCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	214	0.0047	-88	c.466 others(105): Show c.466-1507_466-1420delTGCTCTTGTCCACAGAGGTCCTCCTGGG TCTGTTCTCGGCCACAGATGTCTTCCCAGGTCTGCTCAGCCACAGAGGTC CTCCCAGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346581	AGAACAGA others(81): Show AGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01258.hp1 HG04184.hp2 HG00099.hp1 HG01258.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024	3	286	0.0105	-88	c.466 others(105): Show c.466-1710_466-1623delAGCCACAGAGGTCCTCCCAGGTCCGCTC TCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCC GGGTCTGTTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346586	AGACCCGG others(81): Show AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01934.hp1 HG00140.hp2 HG01175.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012	3	236	0.0127	-88	c.466 others(105): Show c.466-1715_466-1628delCGCTCAGCCACAGAGGTCCTCCCAGGTC CGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTC CTCCCGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346591	CGGGAGGA others(81): Show CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	273	0.0037	-88	c.466 others(105): Show c.466-1720_466-1633delAGATCCGCTCAGCCACAGAGGTCCTCCC AGGTCCGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAG AGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346859	CGGGAGGA others(81): Show CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02717.hp2 HG02886.hp2 HG01106.hp1 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0003g0174 a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0003g0174	3	277	0.0108	-88	c.466 others(105): Show c.466-1988_466-1901delAGATCCGCTCAGCCACAGAGGTCCTCCC AGGTCCGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAG AGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346884	GGACCCGG others(81): Show GGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19091.hp1 NA18966.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	187	0.0107	-88	c.466 others(105): Show c.466-2013_466-1926delTGCTCTCTGCCACAGAGGTCCTCCCAGA TCCGCTCAGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAGAGGTC CTCCCGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347215	CAGGAGGA others(81): Show CAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	282	0.0035	-88	c.466 others(105): Show c.466-2344_466-2257delAGATCCGCTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTCAGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAG AGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347293	TGAGCGGA others(81): Show TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA20129.hp2 HG01515.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0199 a0001c0001t0001g0141 a0001c0001t0001g0199	2	264	0.0076	-88	c.466 others(105): Show c.466-2422_466-2335delGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347448	AGACCCAG others(81): Show AGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGT GGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	283	0.0035	-88	c.466 others(105): Show c.466-2577_466-2490delCGCTCAGCCACAGAGGTGCTCCTGGGTC CGCTCTCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGATC CTCCTGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347719	CGGGAGGA others(81): Show CGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCG AGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	286	0.0035	-88	c.466 others(105): Show c.466-2848_466-2761delAGATCCGCTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTTGGCCACAG AGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HCN2_chr19_584881_622159	605375	TTACAGAG others(81): Show TTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGC CCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp1 others(30): Show HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02698.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04115.hp2 NA18747.hp2 NA18967.hp1 NA18982.hp2 NA19074.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0009 a0001c0013 a0001c0045 others(12): Show a0001c0009 a0001c0013 a0001c0045 a0001c0104 a0001c0105 a0001c0119 a0002c0066 a0002c0071 a0002c0072 a0002c0073 a0002c0074 a0003c0120 a0007c0103 a0008c0106 a0011c0049	a0001c0009t0001 a0001c0009t0002 a0001c0009t0011 others(15): Show a0001c0009t0001 a0001c0009t0002 a0001c0009t0011 a0001c0013t0001 a0001c0013t0002 a0001c0045t0003 a0001c0104t0001 a0001c0105t0001 a0001c0119t0011 a0002c0066t0001 a0002c0071t0010 a0002c0072t0001 a0002c0073t0001 a0002c0074t0002 a0003c0120t0002 a0007c0103t0001 a0008c0106t0002 a0011c0049t0001	a0001c0009t0001g0005 a0001c0009t0001g0069 a0001c0009t0001g0113 others(28): Show a0001c0009t0001g0005 a0001c0009t0001g0069 a0001c0009t0001g0113 a0001c0009t0001g0133 a0001c0009t0001g0218 a0001c0009t0001g0388 a0001c0009t0001g0395 a0001c0009t0002g0153 a0001c0009t0002g0241 a0001c0009t0011g0120 a0001c0013t0001g0131 a0001c0013t0001g0132 a0001c0013t0001g0200 a0001c0013t0001g0389 a0001c0013t0001g0391 a0001c0013t0001g0392 a0001c0013t0001g0394 a0001c0013t0002g0199 a0001c0045t0003g0006 a0001c0104t0001g0176 a0001c0105t0001g0121 a0001c0119t0011g0239 a0002c0066t0001g0292 a0002c0071t0010g0273 a0002c0072t0001g0243 a0002c0073t0001g0314 a0002c0074t0002g0353 a0003c0120t0002g0162 a0007c0103t0001g0393 a0008c0106t0002g0188 a0011c0049t0001g0293	33	406	0.0813	-88	c.121 others(105): Show c.1218+154_1218+241delTACAGAGGTGGGGACCCAGGCGCCCCCT TATGGAGGGGAGGACTCGGGCCCTTTCAGAGGCGGGGACCCAGGCGCCCC CTTATGGAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7			chr19	TogoVar
HCRTR1_chr1_31612689_31632613	31629913	TGGCCCCA others(81): Show TGGCCCCAAATGAAAAAAAATGCAAATTAAAAAAAGTATTGGCAGGGAGA GGTGACCACTGTCTCCTGGAGACTGAAGCCGAGCAGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-88	c.29 others(99): Show c.2934_*3021delGGCCCCAAATGAAAAAAAATGCAAATTAAAAAAA GTATTGGCAGGGAGAGGTGACCACTGTCTCCTGGAGACTGAAGCCGAGCA GAGC	HCRTR1	ENSG00000121764.12	transcript	ENST00000403528.7	protein_coding		2301		chr1	TogoVar
HECTD4_chr12_112155195_112387431	112323957	TCTTTCTT others(81): Show TCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03139.hp2 HG03579.hp2 HG02897.hp1 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0001t0005 a0001c0009t0018 a0001c0001t0004 a0001c0001t0005 a0001c0009t0018	a0001c0001t0004g0072 a0001c0001t0005g0046 a0001c0009t0018g0268 a0001c0001t0004g0072 a0001c0001t0005g0046 a0001c0009t0018g0268	3	262	0.0115	-88	c.178 others(105): Show c.178-4303_178-4216delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	CCTTCCTT others(81): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0001 a0008c0034t0001	a0008c0034t0001g0154 a0008c0034t0001g0154	1	224	0.0045	-88	c.178 others(105): Show c.178-4315_178-4228delAAAGAAAGAAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HERC2_chr15_28106040_28327179	28228451	ACAAGAAT others(81): Show ACAAGAATAAACGTAACGCAGAAAGCACGGGCGATTACTCTAAACATCTG ACTATTTTGAAACCCACTGACATTTCTTCTGCATGGATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp1 HG02040.hp2 others(5): Show HG00438.hp2 HG01261.hp1 HG02040.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp1 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0014t0001g0097	8	248	0.0323	-88	c.527 others(104): Show c.5273-130_5273-43delCATCCATGCAGAAGAAATGTCAGTGGGTT TCAAAATAGTCAGATGTTTAGAGTAATCGCCCGTGCTTTCTGCGTTACGT TTATTCTTG	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	34/92			chr15	TogoVar
HOXB4_chr17_48570507_48583350	48580529	AAGAAAAA others(81): Show AAGAAAAATGCTGGGAGACCAAGCAGATGGGGCCCCGGATATTTAATGAC GGGCAATTCCGTTTACAACCTGAGAAAAGATCAAAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	406	0.0025	-88	c.-22 others(99): Show c.-2298_-2211delCGCCTTTGATCTTTTCTCAGGTTGTAAACGGAAT TGCCCGTCATTAAATATCCGGGGCCCCATCTGCTTGGTCTCCCAGCATTT TTCT	HOXB4	ENSG00000182742.6	transcript	ENST00000332503.6	protein_coding		2180		chr17	TogoVar
HS6ST3_chr13_96085107_96844562	96695580	ATACCACC others(81): Show ATACCACCACCCTCAGCTGTTTTTTTTTTTTTTTTCTTTTACAGATGGAG TCTCACTATGATCCCCAGGCTGGTCTTGAACTCCTGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00639.hp1 others(17): Show HG00099.hp1 HG00558.hp2 HG00639.hp1 HG01074.hp1 HG01109.hp2 HG01358.hp2 HG01496.hp2 HG02258.hp1 HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 NA18906.hp2 NA18947.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0004t0003	a0001c0001t0001g0043 a0001c0001t0001g0082 a0001c0001t0001g0083 others(17): Show a0001c0001t0001g0043 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0079 a0001c0001t0003g0111 a0001c0001t0009g0028 a0001c0001t0009g0059 a0001c0001t0009g0084 a0001c0001t0011g0039 a0001c0001t0011g0058 a0001c0001t0022g0078 a0001c0001t0030g0075 a0001c0001t0031g0030 a0001c0001t0034g0047 a0001c0001t0035g0106 a0001c0001t0036g0001 a0001c0004t0003g0104	20	116	0.1724	-88	c.708 others(109): Show c.708-136908_708-136821delACCACCACCCTCAGCTGTTTTTTT TTTTTTTTTCTTTTACAGATGGAGTCTCACTATGATCCCCAGGCTGGTCT TGAACTCCTGGCCT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSDL1_chr16_84117141_84150177	84125025	AAACAAAT others(81): Show AAACAAATACCCACCAATCACAACAAATACCCACCAAGCAATCACAACAA ATACCCACCAATCAATCACAACAAATACCCACCAATCAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0260 a0002c0002t0003g0260	1	446	0.0022	-88	c.895 others(103): Show c.895-385_895-298delGTGATTGGTGGGTATTTGTTGTGATTGATT GGTGGGTATTTGTTGTGATTGCTTGGTGGGTATTTGTTGTGATTGGTGGG TATTTGTT	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	5/5			chr16	TogoVar
HSPB3_chr5_54450699_54461377	54459701	TGTCTCAA others(81): Show TGTCTCAAAAAACAAAACAAAACAAAAATAAAAAACAAGAGAGAGAGAAA CATTACAAAGGAGTGGGGAGGGCATAGAGGCACTGCAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(348): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 a0001c0007t0001g0000	351	460	0.7630	-88	c.34 others(99): Show c.3460_*3547delGTCTCAAAAAACAAAACAAAACAAAAATAAAAAA CAAGAGAGAGAGAAACATTACAAAGGAGTGGGGAGGGCATAGAGGCACTG CAAA	HSPB3	ENSG00000169271.3	transcript	ENST00000302005.3	protein_coding		3325		chr5	TogoVar
HTR1F_chr3_87787706_87998839	87978134	TGCACCAC others(81): Show TGCACCACAAGCAGGTTCCATTGTGGGCACCCACCTCTGGATGAGGGGAA CATGGTGGCACTCAGAAGGTTGAAGACTCCAGAAATCGC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	248	0.0040	-88	c.-42 others(107): Show c.-42-12573_-42-12486delGCACCACAAGCAGGTTCCATTGTGGG CACCCACCTCTGGATGAGGGGAACATGGTGGCACTCAGAAGGTTGAAGAC TCCAGAAATCGC	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2			chr3	TogoVar
ILRUN_chr6_34582288_34701767	34683427	TACATATA others(81): Show TACATATATATATACATATATATATACATATATATACATATATATACACA TATATATATACATATATATATACATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	311	0.0032	-88	c.158 others(107): Show c.158+12931_158+13018delGTATATATATATATATGTATATATAT ATGTATATATATATGTGTATATATATGTATATATATGTATATATATATGT ATATATATATGT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
IQCA1_chr2_236319151_236512476	236379323	AAGGGGAG others(81): Show AAGGGGAGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGAGAGGGG AGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01070.hp2 others(46): Show HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp2 NA18906.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA19056.hp2 NA19080.hp1 NA19240.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0005 a0001c0021 others(2): Show a0001c0001 a0001c0005 a0001c0021 a0004c0010 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0005t0002 a0001c0021t0008 a0004c0010t0001 a0008c0015t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0046 others(46): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0002g0191 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0004g0032 a0001c0001t0004g0068 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0005t0002g0058 a0001c0005t0002g0059 a0001c0005t0002g0137 a0001c0021t0008g0019 a0004c0010t0001g0136 a0008c0015t0001g0051	49	98	0.5000	-88	c.147 others(107): Show c.1478+1158_1478+1245delCTCCCTTGGTCCTGTCGCTCCCCTGT TTGGGGGTTCCCTCCCCTCTCCCTTGGTCCTGTCGCTCCCCTGTTTGGGG GTTCCCTCCCCT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236379733	CCCAAACA others(81): Show CCCAAACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCAAA CAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	206	0.0049	-88	c.147 others(105): Show c.1478+748_1478+835delAGGTTCCCTCCCCTCTCCCTTGGTCCTG TCGCTCCCCTGTTTGGGGGTTCCCTCCCCTCTCCCTTGGTCCTGTCGCTC CCCTGTTTGG	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18			chr2	TogoVar
KALRN_chr3_124028369_124731325	124175311	GCTCTCCA others(81): Show GCTCTCCAGGATGCGGAGATGCGCGCTGCCGAGGGTCCAGGCCTGCTCTC CAGGATGCGGAGATGTGCGCTGCGAAGTGTCCAGGCCTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03041.hp2 others(1): Show HG02055.hp1 HG02145.hp1 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0031 others(1): Show a0001c0001 a0001c0011 a0001c0031 a0001c0034	a0001c0001t0003 a0001c0011t0001 a0001c0031t0003 others(1): Show a0001c0001t0003 a0001c0011t0001 a0001c0031t0003 a0001c0034t0001	a0001c0001t0003g0036 a0001c0011t0001g0044 a0001c0031t0003g0019 others(1): Show a0001c0001t0003g0036 a0001c0011t0001g0044 a0001c0031t0003g0019 a0001c0034t0001g0037	4	83	0.0482	-88	c.74- others(105): Show c.74-52617_74-52530delATGTGCGCTGCGAAGTGTCCAGGCCTAC TCTCCAGGATGCGGAGATGCGCGCTGCCGAGGGTCCAGGCCTGCTCTCCA GGATGCGGAG	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21528728	AAAGAAAG others(81): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	76	0.0132	-88	c.61+ others(107): Show c.61+419755_61+419842delCCTTCCTTCCTTCCTTTCTTCCTTTC TTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21757175	GAAGGAAG others(81): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0003 a0001c0002t0001g0055 a0001c0001t0011g0003 a0001c0002t0001g0055	2	79	0.0253	-88	c.61+ others(107): Show c.61+191308_61+191395delTCTTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178757383	TATATATA others(81): Show TATATATATATGTATATATATCCAAGAGGATATATATATATGTATATATA TCCAAGAGGATATATATATATGTATATATATCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	175	0.0057	-88	c.-67 others(107): Show c.-67-49949_-67-49862delGTATATATATCCAAGAGGATATATAT ATATGTATATATATCCAAGAGGATATATATATATGTATATATATCCAAGA GGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759699	CATATATA others(81): Show CATATATATATCCAAGAGGATATATATACACATATATATATCCAAGAGGA TATATCTATATATATATATCCAAGAGGATATATCTATAT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp2 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0144 a0001c0002t0001g0057 a0001c0002t0001g0144	2	187	0.0107	-88	c.-67 others(107): Show c.-67-47619_-67-47532delATACACATATATATATCCAAGAGGAT ATATCTATATATATATATCCAAGAGGATATATCTATATATATATATATCC AAGAGGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759729	CATATATA others(81): Show CATATATATATCCAAGAGGATATATCTATATATATATATCCAAGAGGATA TATCTATATATATATATATCCAAGAGGATATATCTATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	108	0.0093	-88	c.-67 others(107): Show c.-67-47575_-67-47488delCCAAGAGGATATATCTATATATATAT ATATCCAAGAGGATATATCTATATATATATATATCCAAGAGGATATATCT ATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759906	CTATATAT others(81): Show CTATATATATATATATCCAAGAGGATATATCTATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp1 HG01255.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0093 a0001c0001t0002g0118	2	126	0.0159	-88	c.-67 others(107): Show c.-67-47391_-67-47304delCCAAGAGGATATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATCTAT ATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240780838	ACACACAG others(81): Show ACACACAGCTCCACACACACACACACAGCTCCACACACACACAGCTCCAC ACACACACACACAGCTCCACACACACACACACACAGCTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0029 a0001c0006t0006g0029	1	326	0.0031	-88	c.882 others(105): Show c.882+1664_882+1751delGAGCTGTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG GAGCTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF26A_chr14_104133587_104185894	104134677	CTGAATGG others(81): Show CTGAATGGTAGGAGGTTTTTTTCTGTTTTGCTCCCTTGGTCTAGATTTCC CTGGGGACAGCTCTGACCAGCCGCCGCGTGCCTGGTAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	372	0.0027	-88	c.-40 others(99): Show c.-4045_-3958delTGAATGGTAGGAGGTTTTTTTCTGTTTTGCTCCC TTGGTCTAGATTTCCCTGGGGACAGCTCTGACCAGCCGCCGCGTGCCTGG TAAA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		3909		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87732856	CAGGTGAA others(81): Show CAGGTGAAAAGGCAGGTGCAAAGCAAATCCTATCCCAGCTTCTATAGGTG AAAAGGCAGGTGCAAAGCAAATCCTATCCCAGCTTCTAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(52): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02647.hp1 HG02683.hp1 HG02886.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18906.hp2 NA18959.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19081.hp2 NA19087.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0022	a0001c0001 a0002c0002 a0014c0032 others(1): Show a0001c0001 a0002c0002 a0014c0032 a0022c0022	a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0014c0032t0001 a0022c0022t0001	a0001c0001t0005g0001 a0002c0002t0001g0158 a0002c0002t0001g0160 others(51): Show a0001c0001t0005g0001 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0170 a0002c0002t0001g0198 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0264 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0286 a0002c0002t0002g0130 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0201 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0002g0253 a0002c0002t0002g0277 a0014c0032t0001g0214 a0022c0022t0001g0159	55	377	0.1459	-88	c.507 others(105): Show c.507-2300_507-2213delATAGAAGCTGGGATAGGATTTGCTTTGC ACCTGCCTTTTCACCTATAGAAGCTGGGATAGGATTTGCTTTGCACCTGC CTTTTCACCT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL23_chr2_169728832_169756878	169753067	AAAAATAT others(81): Show AAAAATATATCTATCTATCTATCTATCTATATATATATATATATCTATAT ATATATATATCTATATATATATATCTATATATATATATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp2 others(20): Show HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0024 a0001c0001t0032 others(8): Show a0001c0001t0015 a0001c0001t0024 a0001c0001t0032 a0001c0001t0046 a0001c0001t0047 a0001c0001t0113 a0001c0001t0114 a0001c0001t0127 a0001c0001t0129 a0001c0002t0136 a0001c0002t0137	a0001c0001t0015g0008 a0001c0001t0015g0067 a0001c0001t0015g0075 others(19): Show a0001c0001t0015g0008 a0001c0001t0015g0067 a0001c0001t0015g0075 a0001c0001t0015g0078 a0001c0001t0015g0080 a0001c0001t0024g0238 a0001c0001t0024g0276 a0001c0001t0024g0277 a0001c0001t0024g0278 a0001c0001t0032g0217 a0001c0001t0032g0312 a0001c0001t0032g0313 a0001c0001t0046g0286 a0001c0001t0046g0305 a0001c0001t0047g0008 a0001c0001t0047g0076 a0001c0001t0113g0281 a0001c0001t0114g0287 a0001c0001t0127g0008 a0001c0001t0129g0079 a0001c0002t0136g0039 a0001c0002t0137g0189	23	398	0.0578	-88	c.33 others(99): Show c.3336_*3423delAAAATATATCTATCTATCTATCTATCTATATATA TATATATATCTATATATATATATATCTATATATATATATCTATATATATA TATC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1190		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753068	AAAATATA others(81): Show AAAATATATCTATCTATCTATCTATCTATATATATATATATATCTATATA TATATATATCTATATATATATATCTATATATATATATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01891.hp2 others(31): Show HG00280.hp1 HG00423.hp2 HG01891.hp2 HG02129.hp2 HG02135.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03239.hp2 HG03486.hp2 HG03654.hp2 HG03831.hp2 HG04228.hp1 NA18906.hp1 NA18949.hp1 NA18950.hp2 NA18956.hp1 NA18969.hp2 NA18986.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19060.hp2 NA19077.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0023 a0001c0001t0030 others(10): Show a0001c0001t0013 a0001c0001t0023 a0001c0001t0030 a0001c0001t0104 a0001c0001t0112 a0001c0001t0115 a0001c0002t0008 a0001c0002t0044 a0001c0002t0103 a0001c0002t0106 a0001c0002t0107 a0001c0002t0108 a0001c0002t0109	a0001c0001t0013g0019 a0001c0001t0013g0083 a0001c0001t0013g0084 others(31): Show a0001c0001t0013g0019 a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0153 a0001c0001t0013g0154 a0001c0001t0013g0158 a0001c0001t0013g0274 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0065 a0001c0001t0023g0066 a0001c0001t0030g0068 a0001c0001t0030g0069 a0001c0001t0030g0077 a0001c0001t0104g0062 a0001c0001t0112g0070 a0001c0001t0115g0019 a0001c0002t0008g0188 a0001c0002t0008g0191 a0001c0002t0008g0194 a0001c0002t0008g0195 a0001c0002t0008g0196 a0001c0002t0008g0199 a0001c0002t0008g0200 a0001c0002t0008g0202 a0001c0002t0008g0205 a0001c0002t0008g0210 a0001c0002t0044g0208 a0001c0002t0044g0209 a0001c0002t0103g0197 a0001c0002t0106g0212 a0001c0002t0107g0190 a0001c0002t0108g0204 a0001c0002t0109g0206	34	394	0.0863	-88	c.33 others(99): Show c.3337_*3424delAAATATATCTATCTATCTATCTATCTATATATAT ATATATATCTATATATATATATATCTATATATATATATCTATATATATAT ATCT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1191		chr2	TogoVar
KNDC1_chr10_133155219_133231412	133223417	GTGTGTGA others(81): Show GTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTGA GAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01993.hp1 HG06807.hp1 HG01169.hp2 HG01993.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0011 a0002c0006t0002 a0002c0002t0011 a0002c0006t0002	a0002c0002t0011g0151 a0002c0006t0002g0289 a0002c0006t0002g0290 a0002c0002t0011g0151 a0002c0006t0002g0289 a0002c0006t0002g0290	3	330	0.0091	-88	c.501 others(107): Show c.5019-1235_5019-1148delAGAGCCCATCCAGGCATGCTCTTCCC GGCATGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGCATGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KREMEN1_chr22_29068035_29151820	29131608	GTGTGTAT others(81): Show GTGTGTATATATATGTATATATGTATATATATGTGTGTATATATATGTAT ATATATACATGTATATATATGCATATATACATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp1 HG02071.hp1 others(37): Show HG00558.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18977.hp1 NA18981.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19067.hp2 NA19074.hp2 NA19082.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0003 a0001c0002t0071 others(4): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0071 a0002c0003t0003 a0002c0003t0013 a0002c0003t0037 a0002c0003t0072	a0001c0001t0003g0130 a0001c0001t0003g0144 a0001c0001t0003g0175 others(36): Show a0001c0001t0003g0130 a0001c0001t0003g0144 a0001c0001t0003g0175 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0073 a0001c0002t0003g0097 a0001c0002t0071g0039 a0002c0003t0003g0001 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0003g0204 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0003g0218 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0290 a0002c0003t0013g0001 a0002c0003t0013g0210 a0002c0003t0013g0211 a0002c0003t0013g0212 a0002c0003t0013g0215 a0002c0003t0013g0219 a0002c0003t0037g0289 a0002c0003t0037g0291 a0002c0003t0072g0206	40	366	0.1093	-88	c.632 others(105): Show c.632-5700_632-5613delGTGTATATATATGTATATATATACATGT ATATATATGCATATATACATGTATATATGTGTATATATATGTATATATGT ATATATATGT	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr22	TogoVar

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