Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
HELZ2_chr20_63553086_63579239	63559442	CAGGGTCA others(131): Show CAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03834.hp2 HG03654.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0061 a0001c0001 a0001c0061	a0001c0001t0004 a0001c0061t0105 a0001c0001t0004 a0001c0061t0105	a0001c0001t0004g0196 a0001c0061t0105g0177 a0001c0001t0004g0196 a0001c0061t0105g0177	2	390	0.0051	-138	c.782 others(16): Show c.7826-210_7826-73del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HLA-F_chr6_29718434_29732296	29722756	AGGAGAGG others(131): Show AGGAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG02723.hp2 others(1): Show HG00735.hp1 HG02145.hp1 HG02723.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	4	443	0.0090	-138	c.-70 others(9): Show c.-707_-570del		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					677		chr6	TogoVar
IL1A_chr2_112768925_112789493	112776428	TCCCAAAA others(131): Show TCCCAAAAACCCACAACCATGACCCGCCCCCTCCTCTGAATGTCCTACCC AAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAA ACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03491.hp1 HG04115.hp1 others(2): Show HG01884.hp1 HG03491.hp1 HG04115.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0025 a0002c0002t0002g0095 a0002c0002t0002g0100 a0001c0001t0003g0025 a0002c0002t0002g0095 a0002c0002t0002g0100	5	358	0.0140	-138	c.616 others(17): Show c.616-1299_616-1162del		IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6						chr2	TogoVar
KCNQ2_chr20_63395208_63477655	63455998	TTCACGGG others(131): Show TTCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCAC CTCCGGGAGGCCCCTCTGCTTCACGGGCCCCCCACCTCCGGGAGGCCCCT CTGCCCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19011.hp2 NA18946.hp1 NA19011.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0029 a0001c0016t0002 a0001c0016t0029	a0001c0016t0002g0181 a0001c0016t0029g0295 a0001c0016t0002g0181 a0001c0016t0029g0295	2	330	0.0061	-138	c.297 others(17): Show c.297-9299_297-9162del		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16						chr20	TogoVar
KRTAP1-1_chr17_41035541_41046450	41041248	GCAGCAGC others(131): Show GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGG AGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCA CTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(57): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18986.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0000 a0004c0004t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000	60	403	0.1489	-138	c.12_ others(6): Show c.12_149del	p.Gln others(10): Show p.Gln5_Cys50del	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding	1/1	202/910	12/534	4/177			chr17	TogoVar
LAMA2_chr6_128878138_129521566	129286650	TTTATATA others(131): Show TTTATATAATATATATAATAATATATAATATATTATATTTATATAATATA TATAATAATATATAATATATTATATAATATATTATATAATATATAATAAT ATATAATATATTATATAATATATAATAATATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0006 a0007c0047t0006	a0007c0047t0006g0026 a0007c0047t0006g0026	1	88	0.0114	-138	c.253 others(19): Show c.2538-1182_2538-1045del		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LDHB_chr12_21630342_21662842	21652598	TATTGAAA others(131): Show TATTGAAACTAGCTAGAAGGAAATGCAAAAGGATAGGGAGCTGCTATCCT AAATGATAGTTACCTAGTCAATTGAAACTAGCTAGAAAGAAATGCAAAAG GATAGGGAGCTGCTATCCTAAATGACAGTGACCTAGTCA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03017.hp2 HG03654.hp2 others(2): Show HG02135.hp2 HG03017.hp2 HG03654.hp2 NA19009.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	5	326	0.0153	-138	c.129 others(17): Show c.129+1807_129+1944del		LDHB	ENSG00000111716.14	transcript	ENST00000350669.5	protein_coding	2/7						chr12	TogoVar
LMF1_chr16_848634_975984	857891	CAGTGGTG others(131): Show CAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGT GGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0117 a0009c0024t0001g0118 a0009c0024t0001g0117 a0009c0024t0001g0118	2	294	0.0068	-138	c.153 others(19): Show c.1530-3323_1530-3186del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857938	CGTGGTGT others(131): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0010 a0010c0047t0010	a0010c0047t0010g0281 a0010c0047t0010g0281	1	294	0.0034	-138	c.153 others(19): Show c.1530-3370_1530-3233del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	917292	ACTGCGGG others(131): Show ACTGCGGGCGGGCACAGGCCCACGTGAAGAAATGCCACATGTGTGCACTG CGGGTGGGCGCAGGCCCACGTGAAGAAATGCCACACGTGTGCGCTGCGGG CGGGCGCAGGCCCACGTGAAGAAATGCCACACGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	294	0.0034	-138	c.515 others(17): Show c.515-6351_515-6214del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10						chr16	TogoVar
LMF1_chr16_848634_975984	942599	GTGCCCCA others(131): Show GTGCCCCATTCTCTGCGTCCTCTCTCTGTGGGGCTCCAATCACATGTATG TTAGACCACCTGGTGCTATTTGCCCCATTCTCTGTGTCCTCTCTCTGTGG GGCTCCAATCACATGTATGTTAGACCACCTAGTGCTATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01074.hp1 others(10): Show HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01243.hp1 HG01258.hp2 HG01978.hp1 HG02109.hp2 HG02300.hp1 HG02683.hp1 HG03239.hp1 HG04204.hp1 NA18906.hp1 NA20805.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0013	a0001c0001 a0001c0010 a0001c0033 others(5): Show a0001c0001 a0001c0010 a0001c0033 a0002c0035 a0005c0034 a0007c0028 a0008c0036 a0013c0037	a0001c0001t0001 a0001c0010t0001 a0001c0033t0001 others(5): Show a0001c0001t0001 a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 a0005c0034t0015 a0007c0028t0004 a0008c0036t0003 a0013c0037t0005	a0001c0001t0001g0024 a0001c0010t0001g0115 a0001c0010t0001g0271 others(10): Show a0001c0001t0001g0024 a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0010t0001g0279 a0001c0033t0001g0275 a0002c0035t0001g0280 a0005c0034t0015g0274 a0007c0028t0004g0017 a0008c0036t0003g0277 a0013c0037t0005g0278	13	294	0.0442	-138	c.504 others(17): Show c.504-8483_504-8346del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMLN_chr3_197955217_198048720	198040504	CTAACCAC others(131): Show CTAACCACAACCCTCGGACAGACTCCTCCTATTCCTCCATGGCATTGTAA CCACAACCCTCGGACAGACTCCTCCTATTCCTCCATGGCATTGTAACCAC AACCCTCGGACAGACTCCTCCTACTCCTCCATGGCATTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0034 a0002c0002t0043g0034	1	258	0.0039	-138	c.18 others(11): Show c.1868_*2005del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17				1868	INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC400499_chr16_11367015_11532247	11493879	GGGGGCGG others(131): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0253 a0253	a0253c0270 a0253c0270	a0253c0270t0002 a0253c0270t0002	a0253c0270t0002g0292 a0253c0270t0002g0292	1	310	0.0032	-138	c.143 others(16): Show c.1432-221_1432-84del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(131): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02451.hp1 others(15): Show HG02056.hp1 HG02083.hp1 HG02451.hp1 HG02559.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG06807.hp1 NA19000.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0059 others(15): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0041	18	238	0.0756	-138	c.179 others(19): Show c.1791+1299_1792-1405del		LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20						chrX	TogoVar
MAD1L1_chr7_1810795_2237945	1905398	CGGAAGAC others(131): Show CGGAAGACGCTCTTGTGGAACTCATGATTGATGAAGCACTGTTCCAGGCA GCAAGCACGCAGTGGCCTATGGAAGACGCTCTTGCGGAACTCATGATTGA TGAAGCACTGTTCCAGGCAGCGAGGACACAGTGGCCTAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	264	0.0038	-138	c.180 others(19): Show c.1808-7146_1808-7009del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930246	CTGCCACG others(131): Show CTGCCACGTCCCCTCGCACAGTCCCCGATGCCACGTCACCTCGCCCCATC CCCCAATGCCATGTCCCCTCGCCCCGTCCCCAGTGCCAGGTCCCCTCGCC CCATCCCCCAGTGCCACGTCCCCTCGCCCCATCCCCCAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0001 a0001c0011t0001 a0001c0006t0001 a0001c0011t0001	a0001c0006t0001g0237 a0001c0011t0001g0244 a0001c0006t0001g0237 a0001c0011t0001g0244	2	264	0.0076	-138	c.180 others(19): Show c.1807+6303_1807+6440del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	TTCTAGGA others(131): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG03239.hp2 HG00735.hp1 HG01106.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0041 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0041	3	264	0.0114	-138	c.986 others(17): Show c.986+2669_986+2806del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18						chr7	TogoVar
METAP1D_chr2_171994953_172087430	172042253	GTACACAT others(131): Show GTACACATATACATATATACATATATACATATGTATGTGTACATGTGTAC ATATATACATATATACATATGTATGTGTACATGTGTACATATATACATAT ATACATATGTATGTGTACATGTGTACATATATACATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	356	0.0028	-138	c.41- others(17): Show c.41-19240_41-19103del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172042494	TATATACA others(131): Show TATATACATATATACATATGTATGTGTACATGTGTACATATATACATATA TGTGTGTATGTGTACATGTGCACATATATACATATATGTGTGTATGTGTA CATGTGCACATATATACATATATGTGTGTATGTGTACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03704.hp1 NA18985.hp2 others(2): Show HG03471.hp1 HG03704.hp1 NA18985.hp2 NA18988.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0111 a0001c0001t0001g0265 a0001c0001t0002g0165 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0265 a0001c0001t0002g0165 a0001c0001t0002g0352 a0001c0001t0003g0149	5	356	0.0140	-138	c.41- others(17): Show c.41-18993_41-18856del		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM_chr7_141990879_142111747	142042219	ACATATAA others(131): Show ACATATAATATATAACATATATTATATATACATATAATATATAACATATA TTATATATACATATAATATATAACATATATTATATATACATATAATATAT AACATATATTATATATACATATAATATATAACATATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG03209.hp2 HG02258.hp2 HG03130.hp2 HG03209.hp2	a0001 a0042 a0049 a0001 a0042 a0049	a0001c0078 a0042c0107 a0049c0054 a0001c0078 a0042c0107 a0049c0054	a0001c0078t0001 a0042c0107t0001 a0049c0054t0001 a0001c0078t0001 a0042c0107t0001 a0049c0054t0001	a0001c0078t0001g0065 a0042c0107t0001g0309 a0049c0054t0001g0165 a0001c0078t0001g0065 a0042c0107t0001g0309 a0049c0054t0001g0165	3	316	0.0095	-138	c.249 others(19): Show c.2498+1374_2498+1511del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70						chr7	TogoVar
MGAM_chr7_141990879_142111747	142042227	TATATAAC others(131): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT ACATATAATATATAACATATATTATATATACATATAATATATAACATATA TTATATATACATATAATATATAACATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0004 a0004	a0004c0140 a0004c0141 a0004c0140 a0004c0141	a0004c0140t0001 a0004c0141t0001 a0004c0140t0001 a0004c0141t0001	a0004c0140t0001g0042 a0004c0141t0001g0314 a0004c0140t0001g0042 a0004c0141t0001g0314	2	316	0.0063	-138	c.249 others(19): Show c.2498+1388_2498+1525del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIER2_chr19_300573_349796	312492	ACATCAGG others(131): Show ACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCCACCTA CACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCTCCTGG GCGATGTCAGAGCCACCTACACCTCTATCCAGGGACTGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp2 NA18950.hp1 others(3): Show HG02109.hp1 HG03195.hp2 NA18950.hp1 NA18964.hp1 NA18969.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0005 a0001c0014t0002 a0001c0001t0005 a0001c0014t0002	a0001c0001t0005g0030 a0001c0001t0005g0288 a0001c0001t0005g0311 others(2): Show a0001c0001t0005g0030 a0001c0001t0005g0288 a0001c0001t0005g0311 a0001c0014t0002g0032 a0001c0014t0002g0033	6	384	0.0156	-138	c.808 others(15): Show c.808-358_808-221del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13						chr19	TogoVar
MIER2_chr19_300573_349796	312732	GATGTCAG others(131): Show GATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGT CCACACCACCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGG GAGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01884.hp2 others(16): Show HG00140.hp2 HG00642.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04204.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0002c0015	a0001c0001t0001 a0001c0005t0002 a0001c0006t0003 others(2): Show a0001c0001t0001 a0001c0005t0002 a0001c0006t0003 a0002c0004t0003 a0002c0015t0003	a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0085 others(15): Show a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0308 a0001c0005t0002g0226 a0001c0005t0002g0227 a0001c0006t0003g0121 a0002c0004t0003g0086 a0002c0004t0003g0113 a0002c0004t0003g0114 a0002c0004t0003g0115 a0002c0004t0003g0116 a0002c0004t0003g0118 a0002c0004t0003g0120 a0002c0004t0003g0122 a0002c0004t0003g0123 a0002c0015t0003g0224 a0002c0015t0003g0229	19	384	0.0495	-138	c.808 others(15): Show c.808-598_808-461del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13						chr19	TogoVar
MLPH_chr2_237482251_237560322	237543160	ATGGGGGA others(131): Show ATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGT GAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTG GTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0031 a0007c0007t0002g0031	1	286	0.0035	-138	c.153 others(17): Show c.1539+525_1539+662del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543271	ACAGTGGT others(131): Show ACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGG GCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0109 a0001c0035t0001g0109	1	286	0.0035	-138	c.153 others(17): Show c.1539+613_1539+750del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MPDZ_chr9_13100707_13284692	13155071	GCTGGGCA others(131): Show GCTGGGCATGGTGGTGCGCACCTGTAGTCCCACCTACTTAGGAGGCTGAG GCAGGAGAATTCGCTCTAACCTGGGAGGCAGAGGTTGCAGTGAGCCAGGA TCGTGCCACTGCATTCCAGCCTGGCAACAGAGTGAGACT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02698.hp2 HG03654.hp2 others(1): Show HG02683.hp1 HG02698.hp2 HG03654.hp2 NA20905.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0059 a0004c0009t0001g0066 a0004c0009t0001g0071 others(1): Show a0004c0009t0001g0059 a0004c0009t0001g0066 a0004c0009t0001g0071 a0004c0009t0001g0097	4	302	0.0133	-138	c.345 others(19): Show c.3452+2809_3452+2946del		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	24/46						chr9	TogoVar
MUSK_chr9_110663791_110811558	110680967	TATATATG others(131): Show TATATATGATATATATAATGATCCTTATAATATATTATATTATATATAAT ATATATTATATATTATATATTATATAATATATATTATATATTATATATAT AATATTATATATATTATATAATATATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG02559.hp2 others(5): Show HG01255.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0027 a0001c0002 a0001c0010 a0002c0027	a0001c0002t0003 a0001c0002t0012 a0001c0010t0006 others(1): Show a0001c0002t0003 a0001c0002t0012 a0001c0010t0006 a0002c0027t0005	a0001c0002t0003g0048 a0001c0002t0003g0050 a0001c0002t0012g0047 others(5): Show a0001c0002t0003g0048 a0001c0002t0003g0050 a0001c0002t0012g0047 a0001c0002t0012g0049 a0001c0010t0006g0131 a0001c0010t0006g0132 a0001c0010t0006g0133 a0002c0027t0005g0130	8	326	0.0245	-138	c.80- others(15): Show c.80-1706_80-1569del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14						chr9	TogoVar
MYZAP_chr15_57586904_57690364	57687948	ATATGTGT others(131): Show ATATGTGTGTACAATATACACATATATAATGTGTGTACAATATACACATA TATAAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01516.hp2 HG02273.hp1 others(4): Show HG01106.hp2 HG01516.hp2 HG02273.hp1 NA19003.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0002c0009t0002	a0001c0001t0001g0187 a0001c0001t0002g0305 a0001c0003t0002g0028 others(4): Show a0001c0001t0001g0187 a0001c0001t0002g0305 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0032 a0002c0002t0002g0082 a0002c0009t0002g0037	7	352	0.0199	-138	c.34 others(11): Show c.3451_*3588del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2585		chr15	TogoVar
NACA_chr12_56707427_56730299	56717696	TAGACCTC others(131): Show TAGACCTCCTTTTAGGGAGGGAGGAGTTGCAGCTGGGGGAGTGGGGGCCC CTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCA GCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02056.hp2 HG02257.hp1 others(10): Show HG01891.hp2 HG02056.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03540.hp2 HG06807.hp2 NA18942.hp2 NA19030.hp2	a0003 a0027 a0003 a0027	a0003c0004 a0027c0051 a0003c0004 a0027c0051	a0003c0004t0001 a0027c0051t0001 a0003c0004t0001 a0027c0051t0001	a0003c0004t0001g0006 a0003c0004t0001g0015 a0003c0004t0001g0093 others(2): Show a0003c0004t0001g0006 a0003c0004t0001g0015 a0003c0004t0001g0093 a0003c0004t0001g0096 a0027c0051t0001g0050	13	366	0.0355	-138	c.369 others(9): Show c.3696_3833del	p.Ala others(15): Show p.Ala1233_Leu1278del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3872/6387	3696/6237	1232/2078			chr12	TogoVar
NACA_chr12_56707427_56730299	56717735	AGTGGGGG others(131): Show AGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGG GAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCC AGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp2 HG02258.hp2	a0026 a0026	a0026c0052 a0026c0052	a0026c0052t0001 a0026c0052t0001	a0026c0052t0001g0051 a0026c0052t0001g0051	1	366	0.0027	-138	c.365 others(9): Show c.3657_3794del	p.Thr others(15): Show p.Thr1220_Thr1265del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3833/6387	3657/6237	1219/2078			chr12	TogoVar
NACA_chr12_56707427_56730299	56717768	GCCTCCTT others(131): Show GCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTT TGGGGGATGGGGTAGCCAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCT GGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCTAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0023 a0023	a0023c0056 a0023c0056	a0023c0056t0001 a0023c0056t0001	a0023c0056t0001g0064 a0023c0056t0001g0064	1	366	0.0027	-138	c.362 others(9): Show c.3624_3761del	p.Leu others(15): Show p.Leu1209_Gly1254del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3800/6387	3624/6237	1208/2078			chr12	TogoVar
NACA_chr12_56707427_56730299	56718027	GGGGGTGG others(131): Show GGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAAGGAGGAGTTGCAGCTGG GGTTGTGGGGGCCCCTTTTGGGGGTGGGGTAGCTAGACCTCCTTTTGGGG AGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp1 HG02056.hp1	a0037 a0037	a0037c0030 a0037c0030	a0037c0030t0001 a0037c0030t0001	a0037c0030t0001g0076 a0037c0030t0001g0076	1	366	0.0027	-138	c.336 others(9): Show c.3365_3502del	p.His others(15): Show p.His1122_Pro1167del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3541/6387	3365/6237	1122/2078			chr12	TogoVar
NACA_chr12_56707427_56730299	56718542	GGGGGAGG others(131): Show GGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCCTTTGGGGGATG GAGTAGCTGGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGTGTG GGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 HG00558.hp1	a0044 a0044	a0044c0047 a0044c0047	a0044c0047t0001 a0044c0047t0001	a0044c0047t0001g0058 a0044c0047t0001g0058	1	366	0.0027	-138	c.285 others(9): Show c.2850_2987del	p.Lys others(13): Show p.Lys951_Pro996del	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3026/6387	2850/6237	950/2078			chr12	TogoVar
NEU4_chr2_241804193_241822413	241805902	CTCCCCCC others(131): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03098.hp2 NA18952.hp1 HG02683.hp1 HG03098.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0013t0001 a0002c0003t0002 a0001c0001t0001 a0001c0013t0001 a0002c0003t0002	a0001c0001t0001g0018 a0001c0013t0001g0063 a0002c0003t0002g0007 a0001c0001t0001g0018 a0001c0013t0001g0063 a0002c0003t0002g0007	3	319	0.0094	-138	c.-33 others(11): Show c.-3375_-3238del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3290		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805941	CTCCCCCC others(131): Show CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	319	0.0031	-138	c.-33 others(11): Show c.-3336_-3199del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3251		chr2	TogoVar
NLRP12_chr19_53788741_53829314	53823402	ATTTAAAA others(131): Show ATTTAAAATATATGTTTTAAATATATATATTTAAAATATATGTTTTAAAT ATATATTTTAAATATATATTTAAAATATATATTTTAAAATATATTTATTT AAAATATATATTTAAAACATATATTTTAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0138 a0003c0007t0003g0138	1	416	0.0024	-138	c.289 others(15): Show c.289+346_289+483del		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993466	CTCTCTCC others(131): Show CTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0004 a0000c0001t0004	a0000c0001t0004g0132 a0000c0001t0004g0132	1	350	0.0029	-138	c.55 others(11): Show c.5554_*5691del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4838		chr19	TogoVar
NPIPB13_chr16_30217897_30253479	30224982	TGCTGAGG others(131): Show TGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAG GTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGC TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0038 a0038	a0038c0022 a0038c0022	a0038c0022t0022 a0038c0022t0022	a0038c0022t0022g0143 a0038c0022t0022g0143	1	145	0.0069	-138	c.132 others(9): Show c.1326_1463del	p.Pro others(13): Show p.Pro443_Ala488del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4206/6292	1326/3417	442/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835669	TGCTGAGG others(131): Show TGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAG GTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGC TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03492.hp1 HG03710.hp2 HG03492.hp1 HG03710.hp2	a0052 a0072 a0052 a0072	a0052c0062 a0072c0061 a0052c0062 a0072c0061	a0052c0062t0001 a0072c0061t0001 a0052c0062t0001 a0072c0061t0001	a0052c0062t0001g0193 a0072c0061t0001g0185 a0052c0062t0001g0193 a0072c0061t0001g0185	2	204	0.0098	-138	c.258 others(9): Show c.2580_2717del	p.Pro others(13): Show p.Pro861_Ala906del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2932/4020	2580/3669	860/1222			chr16	TogoVar
NTN5_chr19_48656407_48678017	48669438	CCACCACC others(131): Show CCACCACCATCACCACCATGACCACCATCATCACCACCATCACCACCATC ACCATCACCACCACCACGACCATCATCACCACCACCACCATCACCACCAC CATCACCACCACCACCATCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	412	0.0024	-138	c.631 others(15): Show c.631+780_631+917del		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
OR6K2_chr1_158694678_158705652	158702822	GGCCGGGC others(131): Show GGCCGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGTGGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAAAACAG TGAAACCCCGTCTCTACTAAAAATACAAAAACAAAATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02559.hp2 HG02572.hp1 others(12): Show HG00741.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp2 HG03669.hp1 HG03710.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	15	462	0.0325	-138	c.-23 others(11): Show c.-2308_-2171del		OR6K2	ENSG00000196171.3	transcript	ENST00000359610.3	protein_coding					2171		chr1	TogoVar
OSBPL5_chr11_3082107_3170310	3103755	AGCTCTGC others(131): Show AGCTCTGCAGCCCCCTTCCAGCCTCTGCAGTCCCTTCCTGCCTCTGCAGC CCTCTTCCTGCCTGCGCAGCCCCCTTCCAGCCTCTGCAGCCCCTTTCCAG TCTGCGCAGCCCCCTTCCTGCCTCTGTAGCCCCATTCCT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03471.hp1 NA19043.hp1 others(1): Show HG01433.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0025 others(1): Show a0001c0001 a0001c0002 a0001c0025 a0002c0003	a0001c0001t0022 a0001c0002t0005 a0001c0025t0005 others(1): Show a0001c0001t0022 a0001c0002t0005 a0001c0025t0005 a0002c0003t0003	a0001c0001t0022g0078 a0001c0002t0005g0315 a0001c0025t0005g0173 others(1): Show a0001c0001t0022g0078 a0001c0002t0005g0315 a0001c0025t0005g0173 a0002c0003t0003g0068	4	326	0.0123	-138	c.124 others(17): Show c.1244+300_1245-436del		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
PEG3_chr19_56805082_56845726	56839352	TACCAACC others(131): Show TACCAACCAACCAGGGCAGCACCTGCACAGCAAACCTCAGCAGCCCCCAT CAAACATGGCGTCCAAGCGGGCAGGGCCTGAACAGATCGTCACATCTAAT GCTACCCAGTCACTTCAGCCTTGCCCCGCCCCATATGCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0157 a0001c0001t0004g0158	2	416	0.0048	-138	c.-25 others(19): Show c.-250+1092_-250+1229del		PEG3	ENSG00000198300.14	transcript	ENST00000326441.15	protein_coding	1/9						chr19	TogoVar
PLD5_chr1_242077986_242529697	242394589	TATATATG others(131): Show TATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACATA TATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACATATA TGTGTATATATGTGAACATATATGTGTATATATGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0009 a0001c0001t0015g0009	1	188	0.0053	-138	c.190 others(19): Show c.190-46485_190-46348del		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar
PNPT1_chr2_55629061_55698844	55650849	AGTGAGGA others(131): Show AGTGAGGAGCGTCTCTGCCCGGCAGCCACCTCGTCCGGCAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0349 a0001c0001t0003g0349	1	390	0.0026	-138	c.149 others(19): Show c.1496-3534_1496-3397del		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	18/27						chr2	TogoVar
PRDM15_chr21_41793225_41884344	41806084	CCACCACC others(131): Show CCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCATCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18948.hp1 NA18943.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0360 a0001c0004t0003g0370 a0001c0004t0003g0360 a0001c0004t0003g0370	2	406	0.0049	-138	c.265 others(19): Show c.2653-1608_2653-1471del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM15_chr21_41793225_41884344	41855916	CTCCCTCC others(131): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCT TCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19065.hp2 NA19079.hp2 others(1): Show HG00609.hp1 NA19065.hp2 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0354 a0001c0001t0004g0386 a0001c0001t0004g0387 others(1): Show a0001c0001t0004g0354 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0004g0388	4	406	0.0099	-138	c.285 others(17): Show c.285+1122_286-1099del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23						chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151874366	TATGTATA others(131): Show TATGTATATGATGTATATGTATATGATGTATATGTATATGTATATGATGT ATATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTAT ATGTATATGATGTATATGTATATGATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 NA18960.hp1 HG00621.hp1 HG02135.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0211 a0001c0001t0004g0215 a0001c0001t0005g0213 a0001c0001t0004g0211 a0001c0001t0004g0215 a0001c0001t0005g0213	3	252	0.0119	-138	c.114 others(17): Show c.114+2003_114+2140del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799008	TGGTGGTG others(131): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	178	0.0056	-138	c.185 others(19): Show c.1855-4833_1855-4696del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799040	GTGGTGAT others(131): Show GTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0081 a0001c0001t0030g0081	1	178	0.0056	-138	c.185 others(19): Show c.1855-4827_1855-4690del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results