Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PIGZ_chr3_196941356_196973833	196953781	GCTTGAAA others(120): Show GCTTGAAACCAGGAGGTCAGACCAGCCTGGGCAGCAAAGTGAGATCCCCA TTTCTACGAAAAAATAGCTGGACACAGTGGTGTGTGCTGGTAATCCCAGC TATTCAGGAGGCTGAGACAAGAGGATCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0209 a0004c0008t0001g0209	1	424	0.0024	-127	c.1-1 others(13): Show c.1-1877_1-1751del	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIN4_chrX_72176757_72203340	72179221	AGGTGGGG others(120): Show AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCAGCCGCCCCGTCCGGGAGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG02615.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	307	0.0065	-127	c.-25 others(11): Show c.-2564_-2438del	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding		2535		chrX	TogoVar
PLCL1_chr2_197799593_198154863	197922996	AGAGGGGC others(120): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTACCGGACGGGGCGGCTGGCCAGGCT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0126 a0001c0004t0001g0126	1	204	0.0049	-127	c.240 others(21): Show c.240+117714_240+117840del	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHA7_chr11_16772297_17019414	16907320	CGGCCGCC others(120): Show CGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	244	0.0041	-127	c.222 others(19): Show c.222-36265_222-36139del	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
POFUT2_chr21_45258935_45292895	45268879	GGCGGCCA others(120): Show GGCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGCAAAGAGCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	436	0.0023	-127	c.101 others(17): Show c.1012+833_1012+959del	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLH_chr6_43571185_43625523	43580445	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp1 HG02965.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0116 a0001c0001t0029g0036 a0001c0001t0001g0116 a0001c0001t0029g0036	2	262	0.0076	-127	c.-4- others(15): Show c.-4-1783_-4-1657del	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPFIBP1_chr12_27519206_27700564	27558469	CACACACA others(120): Show CACACACACACACACACACACACACACGATATTCTATATAGATCAAGAAA TGTCTTACTTCTTTGTGGGCATTGGGGAAAATAGTTTAGGTATATATACT CTTCCTTCCTGCCCCCACCTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02922.hp2 others(4): Show HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03540.hp2 NA18906.hp1 NA18952.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0006 a0001c0001 a0001c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0009t0001 a0001c0009t0002 a0004c0006t0007	a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0002g0060 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0002g0060 a0001c0001t0006g0061 a0001c0009t0001g0059 a0001c0009t0002g0062 a0004c0006t0007g0085	7	314	0.0223	-127	c.-12 others(21): Show c.-123-19656_-123-19530del	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP1R37_chr19_45088179_45152285	45108516	TTTTTAAT others(120): Show TTTTTAATGATTGAATGAATAGTATTTGCATGTGGGTGCCTTGATGTTAA GATGGTGTCTTGTTTTAGCGAGCGTTCTTTTGACTACTAGTTAACTTCGG TTTTGTTTGTTTGTTTTGTATTTTTGTG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18960.hp1 NA18973.hp2 NA18944.hp1 NA18960.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190	3	342	0.0088	-127	c.202 others(19): Show c.202+14990_202+15116del	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding	1/12			chr19	TogoVar
PPP2R5A_chr1_212280410_212366853	212320823	ACCTCCCT others(120): Show ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCAGGTAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	384	0.0026	-127	c.182 others(17): Show c.182-8302_182-8176del	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5A_chr1_212280410_212366853	212320876	GTAGGGGC others(120): Show GTAGGGGCGGCCAGGTAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 NA18949.hp1 HG01258.hp2 HG01358.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0065 a0001c0002t0002g0097 a0001c0004t0002g0090 a0001c0002t0002g0065 a0001c0002t0002g0097 a0001c0004t0002g0090	3	384	0.0078	-127	c.182 others(17): Show c.182-8140_182-8014del	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA1_chr5_40754389_40803374	40800767	AGGTGGGG others(120): Show AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGATG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCTGGGAGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(191): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0265 a0001c0001t0001g0284 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0004g0010 a0001c0001t0004g0126 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0266 a0001c0001t0010g0301 a0001c0001t0010g0303 a0001c0001t0010g0304 a0001c0001t0011g0173 a0001c0001t0011g0196 a0001c0001t0012g0016 a0001c0001t0014g0023 a0001c0001t0015g0063 a0001c0001t0016g0130 a0001c0001t0018g0064 a0001c0001t0019g0150 a0001c0001t0020g0098 a0001c0001t0021g0175 a0001c0001t0022g0103 a0001c0001t0023g0095 a0001c0001t0025g0178 a0001c0001t0026g0127	257	402	0.6393	-127	c.-27 others(11): Show c.-2705_-2579del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2394		chr5	TogoVar
PRKAA1_chr5_40754389_40803374	40800814	ATGAGGGG others(120): Show ATGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCTGGGAGGGTGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCTATCCAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19009.hp1 NA18943.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	402	0.0050	-127	c.-27 others(11): Show c.-2752_-2626del	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2441		chr5	TogoVar
PRPF8_chr17_1645629_1689867	1689134	ACTTCCCA others(120): Show ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGG GGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCTCTCCCAGATGGG GCGGCTGGCCGGGCAGAGAGGCTCCTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0041 a0001c0009t0001g0041	1	291	0.0034	-127	c.-44 others(11): Show c.-4493_-4367del	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4268		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689252	AGGCTCCT others(120): Show AGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCATC CCGGACGGGGCGGCTGGCCGGGCAGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02895.hp1 others(4): Show HG02451.hp2 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0093 a0001c0004t0001g0094 others(3): Show a0001c0004t0001g0012 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0098	7	291	0.0241	-127	c.-46 others(11): Show c.-4611_-4485del	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4386		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689533	CGGATGGG others(120): Show CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAGCTGGCCGGGC GGGGGACTGACCCCCCCACCTCCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	291	0.0034	-127	c.-48 others(11): Show c.-4892_-4766del	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4667		chr17	TogoVar
PRR5L_chr11_36291288_36470204	36351458	TATATATT others(120): Show TATATATTTATATATACATATATATTTATATATTTATATATATTTTTATA TATTTATATATATTTATATATTTATATAAATATATATTTATATATATTTA TATATTTATATATTTATATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19062.hp1 HG01109.hp1 NA19062.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0018 a0001c0001 a0009c0018	a0001c0001t0001 a0009c0018t0001 a0001c0001t0001 a0009c0018t0001	a0001c0001t0001g0006 a0009c0018t0001g0061 a0001c0001t0001g0006 a0009c0018t0001g0061	2	272	0.0074	-127	c.-12 others(21): Show c.-125-49538_-125-49412del	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8			chr11	TogoVar
PSEN1_chr14_73131507_73228691	73183869	GGCGGCCG others(120): Show GGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGGCGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	378	0.0027	-127	c.481 others(17): Show c.481-2968_481-2842del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184335	TGGCCGGG others(120): Show TGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGCTGGCCTGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(81): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02886.hp1 HG03017.hp2 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(81): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0010g0053 a0001c0001t0010g0067 a0001c0001t0010g0073 a0001c0001t0010g0090 a0001c0001t0010g0094	84	378	0.2222	-127	c.481 others(17): Show c.481-2440_481-2314del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSPC1_chr13_19697500_19787945	19779545	CGGAGGGA others(120): Show CGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 NA19240.hp2 HG02630.hp1 HG02886.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0026 a0001c0001t0003g0027 a0002c0003t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0002c0003t0003g0025	3	258	0.0116	-127	c.372 others(17): Show c.372+2714_372+2840del	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779589	CGTCTGGG others(120): Show CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0002 a0001c0004t0003g0002	1	258	0.0039	-127	c.372 others(17): Show c.372+2670_372+2796del	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTPN12_chr7_77532295_77645069	77533460	TTCCCAGT others(120): Show TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGA CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCACCCGGACGGGGC GGCTGGCCAGGCAGAGGGGCTCCCCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02723.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	4	310	0.0129	-127	c.-40 others(11): Show c.-4086_-3960del	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3834		chr7	TogoVar
PTPRA_chr20_2868481_3043669	3018848	GGGGGGCT others(120): Show GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	356	0.0028	-127	c.104 others(18): Show c.1041+951_1041+1077del	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRT_chr20_42067756_43194906	42310105	AAAGTGAA others(120): Show AAAGTGAAAAACATGTTGGAATGTTTGAGAAATAATGTCTTAGGAAAGGT TCAAGACACGAGGCTTAGTTAAAATCTAGCAGGCATGTCTGAACCATATC TGAAGAACAGTGATAGGTTCTGGGCAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0046 a0001c0003t0018g0046	1	62	0.0161	-127	c.213 others(19): Show c.2139+5491_2139+5617del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	12/30			chr20	TogoVar
PXDN_chr2_1626887_1749515	1703522	GGGGGGAC others(120): Show GGGGGGACAGCTCCAGGTGAAGGGGGGGCAGCTCCAGGTGAAGGTGGGGG ACAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCC AGGTGAAGGGAGGGCAACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01993.hp1 others(13): Show HG01109.hp1 HG01891.hp1 HG01993.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0039 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0004t0004 a0001c0006t0004 a0001c0006t0013 a0001c0012t0017 a0001c0014t0013 a0001c0039t0006 a0002c0009t0011	a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 others(13): Show a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0208 a0001c0002t0003g0131 a0001c0004t0004g0209 a0001c0004t0004g0312 a0001c0006t0004g0286 a0001c0006t0013g0310 a0001c0012t0017g0167 a0001c0014t0013g0145 a0001c0014t0013g0248 a0001c0039t0006g0045 a0002c0009t0011g0081	16	322	0.0497	-127	c.201 others(19): Show c.201-10515_201-10389del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57384107	ATCCCAGC others(120): Show ATCCCAGCACTTCGGGAGGTCGAGGCGGGTGGATCACGAGGTCAGGAGAT CAAGACCACGGTGAAACCGTCTCTACTAAAAATACAACAACAAAAAAATT AGCCGGGCACGGTGGTGGGCGCCTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	336	0.0030	-127	c.-36 others(19): Show c.-36+11515_-36+11641del	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
RAB2A_chr8_60511987_60628644	60548265	CCCCCCCA others(120): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCC TCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0259 a0001c0001t0006g0259	1	358	0.0028	-127	c.47- others(17): Show c.47-10526_47-10400del	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASGEF1C_chr5_180095795_180214211	180096209	TCCTCCCT others(120): Show TCCTCCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTCCTT CCTTCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTC CTCCCTTCCTTCCCTCCTTCCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(3): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02976.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0034 a0001c0002t0004 others(2): Show a0001c0001t0003 a0001c0001t0034 a0001c0002t0004 a0001c0002t0020 a0001c0002t0041	a0001c0001t0003g0262 a0001c0001t0003g0291 a0001c0001t0034g0056 others(3): Show a0001c0001t0003g0262 a0001c0001t0003g0291 a0001c0001t0034g0056 a0001c0002t0004g0296 a0001c0002t0020g0089 a0001c0002t0041g0358	6	370	0.0162	-127	c.51 others(11): Show c.5165_*5291del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4585		chr5	TogoVar
RBL1_chr20_36991349_37100997	37000501	GTCCGGGA others(120): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAAGGATGTGGGGGGG TCAGCCCCGGGCCCGGCCAGCCGCCACA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	354	0.0028	-127	c.303 others(19): Show c.3037-1699_3037-1573del	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBM19_chr12_113817057_113971325	113872939	CCCCCCCG others(120): Show CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTTGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0076 a0002c0002t0005g0076	1	356	0.0028	-127	c.255 others(21): Show c.2559-14170_2559-14044del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RC3H2_chr9_122839556_122910359	122852380	GCAGCCGC others(120): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCTAGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02723.hp1 HG00639.hp2 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0021 a0001c0006t0015 a0001c0006t0021	a0001c0006t0015g0010 a0001c0006t0021g0299 a0001c0006t0015g0010 a0001c0006t0021g0299	2	320	0.0063	-127	c.311 others(18): Show c.3118-1071_3118-945del	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	18/20			chr9	TogoVar
RCOR1_chr14_102587649_102735561	102676269	GCTTCCCA others(120): Show GCTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG03471.hp1 others(3): Show HG02451.hp2 HG03139.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0038 a0001c0001t0046 others(1): Show a0001c0001t0012 a0001c0001t0038 a0001c0001t0046 a0001c0004t0012	a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0012g0154 others(3): Show a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0038g0155 a0001c0001t0046g0150 a0001c0004t0012g0151	6	292	0.0206	-127	c.362 others(17): Show c.362-5606_362-5480del	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
REEP6_chr19_1486181_1502927	1499154	TGGGCAGA others(120): Show TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGTCGACTGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG00673.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0005 a0001c0001t0001g0028	2	318	0.0063	-127	c.19 others(11): Show c.1944_*2070del	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1228		chr19	TogoVar
REEP6_chr19_1486181_1502927	1499253	CACCTCCC others(120): Show CACCTCCCTCCCGGACGGGTCGACTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	318	0.0031	-127	c.20 others(11): Show c.2043_*2169del	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1327		chr19	TogoVar
RNF115_chr1_145733868_145829095	145766942	CCTGACCC others(120): Show CCTGACCCCCCCACCTCCCTCCCGGTCGGGGTGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02895.hp2 others(1): Show HG02486.hp1 HG02615.hp1 HG02895.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0027 a0001c0001t0014 a0001c0001t0027	a0001c0001t0014g0265 a0001c0001t0014g0266 a0001c0001t0014g0267 others(1): Show a0001c0001t0014g0265 a0001c0001t0014g0266 a0001c0001t0014g0267 a0001c0001t0027g0269	4	272	0.0147	-127	c.428 others(17): Show c.428+4642_428+4768del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF135_chr17_30966039_31004911	30980115	ACTGGCCG others(120): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAG AGGAGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	266	0.0038	-127	c.373 others(17): Show c.373-4484_373-4358del	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROBO2_chr3_77035099_77654964	77164757	AGTGGGGG others(120): Show AGTGGGGGGGTCAGACCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCAGC CCGGCCAGCCACCCCGTCCGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(9): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG01081.hp2 HG01258.hp1 HG01516.hp1 HG01978.hp1 HG02145.hp2 HG02293.hp1 HG03239.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0036 a0001c0001t0044	a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0002g0027 a0001c0001t0003g0029 a0001c0001t0003g0073 a0001c0001t0009g0090 a0001c0001t0009g0093 a0001c0001t0036g0058 a0001c0001t0044g0062	12	160	0.0750	-127	c.388 others(19): Show c.388+66431_388+66557del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60515894	ATATATTT others(120): Show ATATATTTATATATATTGTATTTATATATATATTTATATATATATTTATA TATATTTATATATTTATATTTATATATATTTATATATTTATATATATTTA TATATATTTATATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02451.hp1 others(5): Show HG00639.hp2 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0014 a0001c0005t0004 a0001c0005t0025 others(1): Show a0001c0003t0014 a0001c0005t0004 a0001c0005t0025 a0001c0006t0004	a0001c0003t0014g0012 a0001c0003t0014g0114 a0001c0005t0004g0024 others(5): Show a0001c0003t0014g0012 a0001c0003t0014g0114 a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0005t0025g0100 a0001c0006t0004g0001 a0001c0006t0004g0078	8	118	0.0678	-127	c.283 others(17): Show c.283-1264_283-1138del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RPS6KC1_chr1_213046241_213279774	213151322	CGGGGCGG others(120): Show CGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	330	0.0030	-127	c.836 others(19): Show c.836-16510_836-16384del	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213151383	CCGGGCAG others(120): Show CCGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18968.hp1 NA18953.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0297 a0001c0001t0001g0302	2	330	0.0061	-127	c.836 others(19): Show c.836-16437_836-16311del	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213151930	GACCCCCC others(120): Show GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02622.hp1 others(1): Show HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0232 a0001c0005t0006g0237 a0001c0005t0006g0238 others(1): Show a0001c0005t0006g0232 a0001c0005t0006g0237 a0001c0005t0006g0238 a0001c0005t0006g0240	4	330	0.0121	-127	c.836 others(19): Show c.836-15905_836-15779del	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RSPRY1_chr16_57181329_57245469	57200560	TGGGGCGG others(120): Show TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	358	0.0028	-127	c.-15 others(19): Show c.-155-3866_-155-3740del	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	ACCCGGCC others(120): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18941.hp1 others(8): Show HG01168.hp2 HG01169.hp2 NA18941.hp1 NA18956.hp2 NA18957.hp2 NA18972.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19083.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0224 a0001c0001t0004g0235 a0002c0002t0003g0043 others(6): Show a0001c0001t0004g0224 a0001c0001t0004g0235 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0202 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208	11	438	0.0251	-127	c.68- others(15): Show c.68-3112_68-2986del	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
SCAMP5_chr15_74990563_75026495	74990981	TTTCTCTT others(120): Show TTTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	370	0.0027	-127	c.-47 others(11): Show c.-4740_-4614del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4581		chr15	TogoVar
SCN8A_chr12_51586233_51817864	51645139	GGCCGCCC others(120): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAAGTGAGGGGCGCCTCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	202	0.0050	-127	c.-54 others(19): Show c.-54-17576_-54-17450del	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1289745	TCCCCCGT others(120): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCGTCCCCCGAGTCTCTGCTCCGT	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0116 a0002c0003t0004g0116	1	290	0.0035	-127	c.166 others(17): Show c.1663-522_1663-396del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEH1L_chr18_12943011_12992531	12980714	CCCGGACG others(120): Show CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(54): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00673.hp2 HG01168.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 others(53): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0099 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0381 a0001c0001t0007g0273	57	388	0.1469	-127	c.762 others(17): Show c.762-1780_762-1654del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD4_chr21_36029541_36065526	36031864	CTGGCGTG others(120): Show CTGGCGTGTTCTGTGGGGGCAATGGTGTGTTGTGTGGGGACACTGGCGTG TCGTGTGGGGGACACTGGTGTGTACACGGGACACTGGCGTGTCGTGCGGG GGGACACTGGCATTTTCTGTGGGGGCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-127	c.40 others(11): Show c.4002_*4128del	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		2676		chr21	TogoVar
SGK3_chr8_66707781_66867022	66725255	ACTGGGCA others(120): Show ACTGGGCACAGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAG GCAGGGAGAATTGCTTGATCCCAGGAGATGGAGGTTGTAGTGAGCCGAGA TGGTGCCACTGCACCCTAGCCTTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	142	0.0070	-127	c.-12 others(21): Show c.-122+12423_-122+12549del	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16			chr8	TogoVar
SH3D19_chr4_151115281_151330605	151214668	GCTGGCCG others(120): Show GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGATGGGGAGGCTGGCCGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0117 a0004c0012t0001g0117	1	282	0.0036	-127	c.152 others(19): Show c.152+11252_152+11378del	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	2/19			chr4	TogoVar
SIMC1_chr5_176233424_176350989	176305545	CCCGCCTG others(120): Show CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC TGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	1	360	0.0028	-127	c.173 others(19): Show c.1735-8144_1735-8018del	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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