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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNG2_chr18_79792938_79905100	79830694	GACAGAGC others(210): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCAGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGTCAGGAGCGTTCT CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGAGCCTTCGT CAGGAGGGTTCCCTGCGG	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	309	0.0032	-217	c.-11 others(21): Show c.-114-25655_-114-25439del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831345	GACAGAGC others(210): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGCGTGCCCTGCGT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	309	0.0032	-217	c.-11 others(21): Show c.-114-25014_-114-24798del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KNG1_chr3_186712359_186749410	186718154	GCCACCCA others(210): Show GCCACCCACCACCCACCACCATCACCCACCACCACCACCATCCACCACCA CCACCCAACCACCACCACCCACCACCCACCACCATCACCCACCACCCACC ACCACCCACCACCCACCACCCACCACCATCACCCACCACCTACCACCCAC CACCCACCACCACCACCACCCACCACCACCCACCACCCACCACCACCACC ACCCACCACCACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG01891.hp1 HG02922.hp1 HG03195.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0027 a0005c0009t0002g0028 a0005c0009t0002g0027 a0005c0009t0002g0028	4	428	0.0093	-217	c.195 others(15): Show c.195+422_195+638del	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
LETM1_chr4_1806479_1861156	1828411	TGGCCGGG others(210): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02622.hp1 others(5): Show HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0003c0004	a0001c0001t0008 a0001c0002t0016 a0001c0013t0015 others(1): Show a0001c0001t0008 a0001c0002t0016 a0001c0013t0015 a0003c0004t0003	a0001c0001t0008g0003 a0001c0002t0016g0016 a0001c0013t0015g0018 others(4): Show a0001c0001t0008g0003 a0001c0002t0016g0016 a0001c0013t0015g0018 a0003c0004t0003g0022 a0003c0004t0003g0023 a0003c0004t0003g0024 a0003c0004t0003g0025	8	198	0.0404	-217	c.108 others(19): Show c.1081-2945_1081-2729del	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding	6/13			chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	TCACTGCT others(210): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCC CTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGC TCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTG GAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCT GCCCCCTGGTTGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01884.hp2 others(12): Show HG01243.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(12): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0195 a0001c0001t0001g0223 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0073	15	58	0.2586	-217	c.199 others(21): Show c.1998+36588_1998+36804del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(210): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01257.hp2 others(5): Show HG00609.hp2 HG01069.hp1 HG01257.hp2 HG01261.hp2 HG02622.hp1 NA18970.hp2 NA18990.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0005c0005t0002	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0256 others(5): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0256 a0001c0001t0001g0284 a0001c0001t0002g0207 a0001c0002t0003g0049 a0001c0002t0003g0051 a0005c0005t0002g0072	8	113	0.0708	-217	c.628 others(17): Show c.628+4190_628+4406del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA5_chrX_3303565_3351652	3341359	GTATATAT others(210): Show GTATATATAATATATATTATTATTATATATAATATATATAATATATATTA TTATTATATATAATATATGTAATATATATTATTATTATATATAATATATG TAATATATATTATTATTATATATAATATATGTAATATATATTATTATTAT ATATAATATATATAATATATATTATTATTATATATAATATATATAATATA TATTATTATTATATATAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp2 others(77): Show HG00140.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG01074.hp1 HG01123.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp2 NA19002.hp1 NA19006.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19081.hp1 NA19085.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0014 a0016 a0018 a0021 a0022 a0023 a0025 a0027 a0029 a0030 a0032	a0001c0001 a0002c0002 a0002c0026 others(23): Show a0001c0001 a0002c0002 a0002c0026 a0003c0003 a0003c0014 a0003c0033 a0005c0005 a0006c0008 a0006c0011 a0007c0007 a0009c0013 a0009c0021 a0009c0042 a0011c0012 a0011c0020 a0014c0016 a0016c0028 a0018c0022 a0021c0023 a0022c0035 a0023c0019 a0025c0018 a0027c0029 a0029c0030 a0030c0032 a0032c0034	a0001c0001t0001 a0002c0002t0001 a0002c0026t0001 others(23): Show a0001c0001t0001 a0002c0002t0001 a0002c0026t0001 a0003c0003t0001 a0003c0014t0001 a0003c0033t0001 a0005c0005t0002 a0006c0008t0003 a0006c0011t0002 a0007c0007t0001 a0009c0013t0002 a0009c0021t0001 a0009c0042t0002 a0011c0012t0001 a0011c0020t0001 a0014c0016t0002 a0016c0028t0001 a0018c0022t0002 a0021c0023t0002 a0022c0035t0007 a0023c0019t0001 a0025c0018t0007 a0027c0029t0001 a0029c0030t0001 a0030c0032t0001 a0032c0034t0001	a0001c0001t0001g0202 a0002c0002t0001g0006 a0002c0002t0001g0125 others(68): Show a0001c0001t0001g0202 a0002c0002t0001g0006 a0002c0002t0001g0125 a0002c0026t0001g0145 a0003c0003t0001g0001 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0131 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0201 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0014t0001g0197 a0003c0014t0001g0200 a0003c0033t0001g0195 a0005c0005t0002g0126 a0006c0008t0003g0133 a0006c0011t0002g0120 a0006c0011t0002g0122 a0007c0007t0001g0212 a0007c0007t0001g0217 a0009c0013t0002g0121 a0009c0021t0001g0138 a0009c0042t0002g0134 a0011c0012t0001g0115 a0011c0012t0001g0116 a0011c0020t0001g0132 a0014c0016t0002g0136 a0014c0016t0002g0137 a0016c0028t0001g0192 a0018c0022t0002g0117 a0021c0023t0002g0119 a0022c0035t0007g0144 a0023c0019t0001g0123 a0025c0018t0007g0124 a0027c0029t0001g0211 a0029c0030t0001g0189 a0030c0032t0001g0187 a0032c0034t0001g0118	80	226	0.3540	-217	c.188 others(17): Show c.188+2070_188+2286del	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
NAV1_chr1_201534127_201831969	201690165	CTGGCCTG others(210): Show CTGGCCTGTCTGTGGCAGAGTGCTGGCTATTTCCTCTCTGGCCTGTCCGT GGCAGAGTATGTCTATTTCCTCTCTGGCCTGTCCGTGGCAGAGTATGTCT ATTTCCTCTCTGGCCTGTCTGTGGCAGAATGCTGGCTATTTCCTCCGTGG CCTGTCCATGCAGTGTGTGTCTGTTTCCTCTGTGGCCTATATGTGGCAGA ATGTGTCTATTTCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(37): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02572.hp1 HG02738.hp1 HG03834.hp2 NA18940.hp2 NA18951.hp2 NA18963.hp2 NA18971.hp1 NA19000.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0014 a0001c0023 others(7): Show a0001c0001 a0001c0014 a0001c0023 a0001c0026 a0002c0002 a0003c0004 a0004c0003 a0005c0005 a0006c0008 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0047 a0001c0001t0062 a0001c0001t0064 a0001c0001t0076 a0001c0001t0084 a0001c0014t0001 a0001c0023t0007 a0001c0026t0065 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0002t0056 a0003c0004t0058 a0004c0003t0008 a0004c0003t0009 a0004c0003t0036 a0005c0005t0001 a0006c0008t0002 a0009c0012t0011	a0001c0001t0001g0120 a0001c0001t0002g0062 a0001c0001t0002g0094 others(37): Show a0001c0001t0001g0120 a0001c0001t0002g0062 a0001c0001t0002g0094 a0001c0001t0004g0027 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0007g0084 a0001c0001t0008g0022 a0001c0001t0010g0181 a0001c0001t0013g0145 a0001c0001t0017g0153 a0001c0001t0031g0116 a0001c0001t0032g0099 a0001c0001t0034g0110 a0001c0001t0047g0035 a0001c0001t0062g0164 a0001c0001t0064g0162 a0001c0001t0076g0069 a0001c0001t0084g0057 a0001c0014t0001g0168 a0001c0014t0001g0176 a0001c0023t0007g0148 a0001c0026t0065g0165 a0002c0002t0001g0030 a0002c0002t0003g0065 a0002c0002t0004g0009 a0002c0002t0004g0023 a0002c0002t0004g0151 a0002c0002t0012g0036 a0002c0002t0056g0144 a0003c0004t0058g0167 a0004c0003t0008g0017 a0004c0003t0009g0174 a0004c0003t0036g0046 a0004c0003t0036g0119 a0005c0005t0001g0075 a0006c0008t0002g0105 a0009c0012t0011g0064	40	208	0.1923	-217	c.161 others(21): Show c.1619-22524_1619-22308del	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241805789	CCCCTCAG others(210): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02027.hp1 HG01952.hp2 HG02027.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0006 a0002c0003t0002g0154 a0001c0004t0001g0006 a0002c0003t0002g0154	2	304	0.0066	-217	c.-34 others(11): Show c.-3488_-3272del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3403		chr2	TogoVar
NLN_chr5_65717205_65834283	65833813	CCCAGCAC others(210): Show CCCAGCACTTTTGTAGGCTGAGATGGGCTGATCACTTGAGCTCAGGAGTT TGAGACCAGCCTGGGCAACATGGTGAAACCCCTGTCTCTGCGTAATACAC AAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGCCACTTGAG CCTGGGAGATAGAGGCTGCAGTGAGCGATGATGGCACCACTGCTGTCCAG GCTTAGCGAGAGAGTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02257.hp2 HG00323.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0180 a0001c0001t0001g0204	2	334	0.0060	-217	c.10 others(13): Show c.10899_*11115del	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding		4531		chr5	TogoVar
P2RY8_chrX_1457581_1542185	1474343	GTGGATGG others(210): Show GTGGATGGATGGATGGATGGATGGATGGATAAGTGGGTGGGTGGATGGAT GGATCAGTGTTTAGGTGGATGGACGTGTGAGTGGATGGATGGGTGGATAG ATGGATGAGTGGGAGGATGGGTGAATGGATGTATGATGAATGGATGAGGA TGGGTAGATGGATGGGTAGATGGATAGATGGGTGGCTGGATAGATGAATA GGTGTATGGGTGTGTGGA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0024	1	113	0.0088	-217	c.-24 others(17): Show c.-24-7978_-24-7762del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PARD3B_chr2_204540475_205625162	204648652	AATATATT others(210): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATAGATATCATATAAATAATATATAT TTATAATAGATATCATATAAATAATATATATTTATAATAGATATCATATA AATAATATATATTTATAATAGATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0004 a0004c0012t0003g0004	1	23	0.0435	-217	c.121 others(19): Show c.121-37359_121-37143del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	277372	GGGACACC others(210): Show GGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAG GGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGA TGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGT GGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAGG GCACGTGGGGACAGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(43): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp2 HG02922.hp2 HG03195.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19011.hp1 NA19057.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0005 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0048 a0001c0001t0052 a0001c0001t0061 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0001c0001t0093 a0001c0001t0097 a0001c0002t0087 a0001c0002t0092 a0001c0003t0002 a0001c0003t0006 a0001c0003t0017 a0001c0003t0019 a0001c0003t0024 a0001c0003t0059 a0001c0003t0063 a0001c0003t0077 a0001c0006t0003 a0001c0009t0096 a0002c0005t0026 a0004c0012t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0005g0081 a0001c0001t0007g0128 a0001c0001t0007g0131 a0001c0001t0009g0077 a0001c0001t0014g0028 a0001c0001t0016g0002 a0001c0001t0048g0047 a0001c0001t0052g0072 a0001c0001t0061g0166 a0001c0001t0065g0029 a0001c0001t0067g0052 a0001c0001t0068g0103 a0001c0001t0069g0043 a0001c0001t0074g0082 a0001c0001t0075g0044 a0001c0001t0093g0132 a0001c0001t0097g0034 a0001c0002t0087g0147 a0001c0002t0092g0146 a0001c0003t0002g0011 a0001c0003t0002g0013 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0017g0048 a0001c0003t0019g0032 a0001c0003t0024g0033 a0001c0003t0024g0058 a0001c0003t0059g0050 a0001c0003t0063g0049 a0001c0003t0077g0164 a0001c0006t0003g0126 a0001c0009t0096g0027 a0002c0005t0026g0031 a0004c0012t0005g0045	46	172	0.2674	-217	c.-43 others(11): Show c.-4333_-4117del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		4008		chrX	TogoVar
PLCXD1_chrX_276381_308356	277429	GGGGACAG others(210): Show GGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGG GGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGTGGACACC CCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAGGGCACGTG GGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGG GAGGGCTCAGGAGGACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0165 a0001c0003t0002g0165	1	174	0.0057	-217	c.-42 others(11): Show c.-4276_-4060del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3951		chrX	TogoVar
PLCXD1_chrX_276381_308356	277507	TGTGGGGA others(210): Show TGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTG AGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGT CAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGT GTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGA GGGGAGGGGTCAGGGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02257.hp1 HG02630.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0015 a0002c0005 a0005c0015	a0002c0005t0100 a0005c0015t0006 a0002c0005t0100 a0005c0015t0006	a0002c0005t0100g0079 a0005c0015t0006g0078 a0002c0005t0100g0079 a0005c0015t0006g0078	2	172	0.0116	-217	c.-41 others(11): Show c.-4198_-3982del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3873		chrX	TogoVar
PPP2R3B_chrX_328933_391907	339833	CGGGGGGG others(210): Show CGGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGAGAGGGGAGGAGC CGGGGGGGGGTGAGAGGGGAGGAGCTGGGGGGGGTGAGAGGGGAGGAGCC GGGGGGGTGAGAGGGGAGGAGCCGGGGGGGTGAGAGGGGAGGAGCCGGGG GGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATGGGGGGG GTGAGAGGGGAGGAGATG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19086.hp1 HG03834.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0007 a0001c0007t0001g0011 a0001c0002t0001g0007 a0001c0007t0001g0011	2	13	0.1538	-217	c.135 others(17): Show c.1351+715_1351+931del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PXDNL_chr8_51314577_51814445	51534535	ATCAGCCC others(210): Show ATCAGCCCCCACCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGATCAGCC CCCACTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG06807.hp2 others(1): Show HG02451.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0012	a0001c0011 a0005c0027 a0006c0024 others(1): Show a0001c0011 a0005c0027 a0006c0024 a0012c0014	a0001c0011t0003 a0005c0027t0005 a0006c0024t0003 others(1): Show a0001c0011t0003 a0005c0027t0005 a0006c0024t0003 a0012c0014t0001	a0001c0011t0003g0008 a0005c0027t0005g0033 a0006c0024t0003g0009 others(1): Show a0001c0011t0003g0008 a0005c0027t0005g0033 a0006c0024t0003g0009 a0012c0014t0001g0056	4	108	0.0370	-217	c.380 others(19): Show c.380+22088_380+22304del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
RIPK1_chr6_3063494_3120187	3090764	ACCTACCT others(210): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG01109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0008g0237 a0001c0001t0001g0014 a0001c0001t0008g0237	2	334	0.0060	-217	c.915 others(17): Show c.915+1135_915+1351del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(210): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	304	0.0033	-217	c.915 others(17): Show c.915+1169_915+1385del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090826	ACCTACCT others(210): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0235 a0001c0002t0001g0105 a0001c0002t0001g0235	2	312	0.0064	-217	c.915 others(17): Show c.915+1197_915+1413del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091043	GCCTACCT others(210): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04204.hp1 HG02015.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0188 a0001c0001t0015g0329 a0001c0001t0001g0188 a0001c0001t0015g0329	2	338	0.0059	-217	c.915 others(17): Show c.915+1445_915+1661del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091102	AGCGCCTA others(210): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	261	0.0038	-217	c.915 others(17): Show c.915+1476_915+1692del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091536	AGCGCCTA others(210): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	284	0.0035	-217	c.915 others(17): Show c.915+1910_915+2126del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091598	AGCGCCTA others(210): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18941.hp1 NA18990.hp2 HG03017.hp1 NA18941.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0028 a0001c0002t0002g0015 a0001c0002t0002g0067 a0001c0001t0002g0028 a0001c0002t0002g0015 a0001c0002t0002g0067	3	312	0.0096	-217	c.915 others(17): Show c.915+2065_915+2281del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091815	CGCGCCTA others(210): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02015.hp1 NA18998.hp1 HG01993.hp1 HG02015.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0188 a0001c0001t0005g0143 a0001c0001t0001g0072 a0001c0001t0001g0188 a0001c0001t0005g0143	3	279	0.0108	-217	c.915 others(17): Show c.915+2189_915+2405del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092457	GAACCGCA others(210): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18945.hp2 HG03239.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0079 a0001c0001t0010g0115 a0001c0001t0001g0079 a0001c0001t0010g0115	2	332	0.0060	-217	c.915 others(17): Show c.915+2809_915+3025del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092488	GAACCGCA others(210): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0302 a0001c0001t0017g0302	1	331	0.0030	-217	c.915 others(17): Show c.915+2840_915+3056del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092993	CGCGCCTA others(210): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	328	0.0030	-217	c.915 others(17): Show c.915+3356_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093201	TAACCGCA others(210): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02486.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG02486.hp2 HG02738.hp1 HG02818.hp2 HG02976.hp2 HG03654.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0025	a0001c0001t0001g0084 a0001c0001t0001g0274 a0001c0001t0007g0129 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0274 a0001c0001t0007g0129 a0001c0001t0007g0316 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0010g0193 a0001c0002t0025g0051	8	231	0.0346	-217	c.915 others(17): Show c.915+3573_915+3789del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093895	GCCTACCT others(210): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACC TGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGC AGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCA CCTAGTAACTGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18971.hp1 NA19003.hp2 NA18940.hp2 NA18971.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0159 a0001c0001t0001g0215 a0001c0001t0001g0216	3	338	0.0089	-217	c.915 others(17): Show c.915+4261_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCGB1C2_chr17_132569_144067	140741	CTGGTGAG others(210): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATAGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGA GGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	402	0.0050	-217	c.18 others(11): Show c.1800_*2016del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1675		chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(210): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATA TATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGT GTATATACTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp2 NA21309.hp2 HG03471.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0020g0262 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0020g0262	3	299	0.0100	-217	c.339 others(19): Show c.3393+2713_3393+2929del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(210): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTG TATATACTATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02559.hp1 HG02818.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0256 a0001c0011t0011g0257 a0001c0011t0011g0256 a0001c0011t0011g0257	2	239	0.0084	-217	c.339 others(19): Show c.3393+2650_3393+2866del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCUBE1_chr22_43192280_43348372	43280833	CCCTCTTT others(210): Show CCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCT CCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCC TCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	270	0.0037	-217	c.484 others(18): Show c.484+9996_484+10212del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	257494	GAGCGTTA others(210): Show GAGCGTTACCGTGAGCTCCGCCCCCTGTTGGAGCATTACTGTGTGAGCTC CGCGCCCTGCCAGAGCATTACTGTGTGAGCTCCGCCCCTGCCAGAGCATT ACCTTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGTGAGCTCCACCC CCTGCCAGAGCATTACTGGGTGAGCTCCACCCCCTGCCAGAGCATTACTG TGAGCTCCGCCTCCCGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(3): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG03669.hp2 NA18965.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0020 a0002c0003t0003g0100 a0002c0003t0003g0101 others(2): Show a0002c0003t0003g0020 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0102 a0002c0003t0003g0103	6	264	0.0227	-217	c.10 others(11): Show c.1075_*1291del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		413		chr5	TogoVar
SHOX_chrX_625791_656584	628682	TCTGTCTG others(210): Show TCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TCTGTTTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATC TCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTC TCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TGTGTTTCTCTATCTCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0186 a0001c0001t0082g0186	1	187	0.0053	-217	c.-22 others(11): Show c.-2215_-1999del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2108		chrX	TogoVar
SMYD3_chr1_245744347_246512279	246251477	TCGGACAC others(210): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGCGCCCGGCT TTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACA CTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAG GTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCC CGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02027.hp1 others(9): Show HG00544.hp1 HG00621.hp2 HG02027.hp1 HG02056.hp1 HG02602.hp1 HG03017.hp1 HG04228.hp1 NA18965.hp2 NA18971.hp2 NA18984.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0058 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0002t0001g0056 a0001c0002t0002g0041 a0001c0011t0002g0018 a0001c0014t0002g0055 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0002g0104	12	139	0.0863	-217	c.531 others(19): Show c.531+75507_531+75723del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251657	GGTGCCTC others(210): Show GGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGC CCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCG CGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTT TAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACAC TGTGCCCGGCTTTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	150	0.0067	-217	c.531 others(19): Show c.531+75327_531+75543del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414930	CACAGTGT others(210): Show CACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATAGT ATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATAT AGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGT ATATACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTG TGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02451.hp2 HG01891.hp2 HG02280.hp2 HG02451.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0019 a0001c0001 a0004c0019	a0001c0001t0001 a0004c0019t0001 a0001c0001t0001 a0004c0019t0001	a0001c0001t0001g0086 a0001c0001t0001g0091 a0004c0019t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0091 a0004c0019t0001g0077	3	344	0.0087	-217	c.233 others(19): Show c.2334-1854_2334-1638del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SSH2_chr17_29620938_29935228	29895740	ATATAAAA others(210): Show ATATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAA ATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACAT TTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATT TTATATACACATTTCATG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0132 a0001c0003t0006g0132	1	27	0.0370	-217	c.63+ others(17): Show c.63+33981_63+34197del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STK38L_chr12_27239286_27330959	27241376	TTATATAT others(210): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATA TATTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTG TATAGTTATATATATTACATATATGACTCTGTATAGTTATATATTACATA TATGACTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	366	0.0027	-217	c.-29 others(11): Show c.-2967_-2751del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2909		chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128596505	TGCAGGTC others(210): Show TGCAGGTCCTGGTACAGAGGCGGCAGGGCTTCACTGATCCCTGTTCTGTC CATCGCACTGGGCTGCCCCTTTTGCAGGTCCTGGTACAGAGGCACCAGGG CTTCACTGATCCCATGTCCTCTCCATCACACTGGGCTGCCCCTTTCGCAG GTCCTGGTACAGAGGCAGCAGGGCTTCACTGATCCCTGTTCTGTCCATCA CACTGGGCTGCCCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0002 a0002c0046t0002	a0002c0046t0002g0118 a0002c0046t0002g0118	1	168	0.0060	-217	c.112 others(21): Show c.1122-19627_1122-19411del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607800	GAGGACAG others(210): Show GAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGATGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG02451.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0009 a0001c0001t0018g0013 a0001c0001t0005g0009 a0001c0001t0018g0013	2	160	0.0125	-217	c.323 others(19): Show c.323-55926_323-55710del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM239_chr20_2811364_2823062	2822845	CCCGTCTC others(210): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	398	0.0025	-217	c.58 others(11): Show c.5833_*6049del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4784		chr20	TogoVar
TP73_chr1_3647516_3741201	3675006	GCCCAGGT others(210): Show GCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGC CCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCC AGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAG GTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGT GTCTCCTCCCACAATGGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0189 a0001c0001t0001g0034 a0001c0001t0001g0189	2	356	0.0056	-217	c.-33 others(17): Show c.-33-7324_-33-7108del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSNARE1_chr8_142207080_142408182	142390302	CGTAACAG others(210): Show CGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACAC TGCGGGGGACTCCGTAACAGAAGCTGTACACTGCGGGGGACTCCGTAACA GACGCTGTACACTGCGGGGGACTCCGTAACAGAAGCTGTACACTGCGGGG GACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTG TACACTGCTGGGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	236	0.0042	-217	c.-40 others(19): Show c.-40+12585_-40+12801del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TUBGCP2_chr10_133273635_133313872	133292070	CCCCCGTG others(210): Show CCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCC CCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTC CCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0039 a0001c0002t0007g0039	1	282	0.0035	-217	c.121 others(17): Show c.1214+212_1214+428del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR45B_chr17_82609562_82653444	82648596	GGGCGGGG others(210): Show GGGCGGGGAGGGGCGGGGCGGGGCGAGGCGAGGCGAGGCGAGGAAAGGCG GGGAGAGGCAGGGCGGGCGGGGCGGGATGAGGCGGGGAGAGGCAGGGCGG GCGGGGCGGGATGAGGCGGGGAGAGGCGGAGCGAGGCGGGGCGGGGAGGA GGGGGCGGGGCGGGGCGGGGCGAGGCGAGGAAAGGCGGGGAGAGGCAGGG CGGGCGGGGCGGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	380	0.0026	-217	c.-47 others(9): Show c.-473_-257del	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		153		chr17	TogoVar
ZNF516_chr18_76352682_76500242	76394021	GGGCAGGT others(210): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0051 a0006c0051	a0006c0051t0153 a0006c0051t0153	a0006c0051t0153g0015 a0006c0051t0153g0015	1	328	0.0030	-217	c.181 others(21): Show c.1811-13935_1811-13719del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288221	CCGTGTCT others(209): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	277	0.0036	-216	c.51 others(11): Show c.5127_*5342del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4169		chr1	TogoVar

Search by Variant

Search

Search Results