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
CROCC2_chr2_240901336_240998311	240978700	GCTCATCC others(488): Show GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03041.hp2 others(1): Show HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0004g0307 others(1): Show a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0004g0307 a0001c0001t0004g0314	4	348	0.0115	-495	c.440 others(19): Show c.4402-4165_4402-3671del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979549	GCCCAGGC others(488): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(83): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0007 others(15): Show a0002 a0003 a0007 a0009 a0011 a0012 a0015 a0016 a0018 a0025 a0029 a0047 a0052 a0053 a0054 a0055 a0057 a0059	a0002c0002 a0002c0011 a0002c0012 others(23): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0007c0007 a0007c0046 a0009c0009 a0011c0019 a0011c0042 a0011c0045 a0012c0013 a0015c0015 a0016c0061 a0016c0092 a0018c0016 a0025c0037 a0029c0072 a0047c0069 a0052c0053 a0053c0058 a0054c0066 a0055c0081 a0057c0031 a0059c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(28): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0007c0007t0001 a0007c0007t0003 a0007c0046t0001 a0009c0009t0001 a0009c0009t0002 a0009c0009t0005 a0011c0019t0001 a0011c0042t0002 a0011c0045t0002 a0012c0013t0001 a0015c0015t0001 a0016c0061t0002 a0016c0092t0001 a0018c0016t0002 a0025c0037t0001 a0029c0072t0002 a0047c0069t0001 a0052c0053t0001 a0053c0058t0002 a0054c0066t0002 a0055c0081t0001 a0057c0031t0001 a0059c0095t0002	a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0015 others(82): Show a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0123 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0167 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0255 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0279 a0002c0002t0002g0309 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0305 a0002c0011t0002g0337 a0002c0012t0002g0257 a0002c0033t0002g0283 a0002c0068t0001g0118 a0003c0003t0001g0036 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0050 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0066 a0003c0003t0001g0184 a0003c0003t0002g0271 a0003c0003t0002g0273 a0003c0003t0002g0275 a0003c0003t0002g0281 a0003c0003t0002g0317 a0003c0003t0002g0335 a0007c0007t0001g0110 a0007c0007t0001g0196 a0007c0007t0001g0201 a0007c0007t0001g0208 a0007c0007t0001g0209 a0007c0007t0001g0212 a0007c0007t0001g0214 a0007c0007t0001g0217 a0007c0007t0001g0219 a0007c0007t0003g0205 a0007c0046t0001g0224 a0009c0009t0001g0094 a0009c0009t0001g0096 a0009c0009t0001g0100 a0009c0009t0001g0101 a0009c0009t0001g0182 a0009c0009t0001g0206 a0009c0009t0002g0002 a0009c0009t0005g0001 a0011c0019t0001g0223 a0011c0042t0002g0268 a0011c0045t0002g0315 a0012c0013t0001g0149 a0012c0013t0001g0151 a0015c0015t0001g0030 a0015c0015t0001g0034 a0015c0015t0001g0180 a0016c0061t0002g0294 a0016c0092t0001g0142 a0018c0016t0002g0245 a0025c0037t0001g0195 a0029c0072t0002g0242 a0047c0069t0001g0020 a0052c0053t0001g0085 a0053c0058t0002g0296 a0054c0066t0002g0326 a0055c0081t0001g0063 a0057c0031t0001g0179 a0059c0095t0002g0306	86	280	0.3071	-495	c.440 others(19): Show c.4402-3310_4402-2816del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980670	AGGATCCC others(488): Show AGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA AGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGATCCCAGACTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGTCAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp1 others(34): Show HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01952.hp1 HG02004.hp2 HG02129.hp1 HG02300.hp2 HG02735.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0010 a0011 a0024 a0033	a0001c0001 a0001c0022 a0001c0067 others(8): Show a0001c0001 a0001c0022 a0001c0067 a0005c0005 a0006c0006 a0010c0010 a0011c0038 a0011c0044 a0011c0080 a0024c0057 a0033c0049	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0001c0067t0002 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0006c0006t0009 a0010c0010t0001 a0011c0038t0001 a0011c0044t0002 a0011c0080t0001 a0024c0057t0002 a0033c0049t0001	a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 others(34): Show a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0280 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0343 a0001c0022t0002g0318 a0001c0067t0002g0278 a0005c0005t0001g0035 a0005c0005t0001g0093 a0005c0005t0001g0157 a0005c0005t0002g0316 a0006c0006t0001g0033 a0006c0006t0001g0095 a0006c0006t0001g0107 a0006c0006t0001g0116 a0006c0006t0001g0181 a0006c0006t0009g0111 a0010c0010t0001g0145 a0010c0010t0001g0203 a0011c0038t0001g0068 a0011c0044t0002g0301 a0011c0080t0001g0161 a0024c0057t0002g0338 a0033c0049t0001g0200	37	290	0.1276	-495	c.440 others(19): Show c.4402-2206_4402-1712del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CUX1_chr7_101811007_102288958	102083713	ACTATTTA others(488): Show ACTATTTATTCTTCCATAATATATTTATTTAGTTCATCTTTAATTTCTCT GAGCAGTATTTTACAGTTTTGATGTATAAACCTGGCACAGATTATGTTCA GTTTATTTCTAAGTTTAAGTCATGTTTTTGAATGTTATATTAAAGGATAT TTTCTTTTTTAAAAAATCTACAATGTTTATTTTATTATTATTATTTTTAA TCTCGCTTCATCACCAAGGCTGGAGTAAAGTGACGCGATCTCAGCTCAGT GCAACCACCGCCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAA ATAGCTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATT TTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCC TGACTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GGTGCGAGATTAAAGTTTATTTTCTTTTGAAATTTGTTTTCCAATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(2): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0005t0002	a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0002t0001g0038 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0002t0001g0038 a0002c0003t0002g0010 a0002c0005t0002g0061	5	130	0.0385	-495	c.301 others(19): Show c.301+13297_302-13156del		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	4/22						chr7	TogoVar
CUX1_chr7_101812626_102263233	102083713	ACTATTTA others(488): Show ACTATTTATTCTTCCATAATATATTTATTTAGTTCATCTTTAATTTCTCT GAGCAGTATTTTACAGTTTTGATGTATAAACCTGGCACAGATTATGTTCA GTTTATTTCTAAGTTTAAGTCATGTTTTTGAATGTTATATTAAAGGATAT TTTCTTTTTTAAAAAATCTACAATGTTTATTTTATTATTATTATTTTTAA TCTCGCTTCATCACCAAGGCTGGAGTAAAGTGACGCGATCTCAGCTCAGT GCAACCACCGCCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAA ATAGCTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATT TTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCC TGACTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GGTGCGAGATTAAAGTTTATTTTCTTTTGAAATTTGTTTTCCAATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(2): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0010 a0001c0001 a0001c0004 a0003c0010	a0001c0001t0022 a0001c0001t0056 a0001c0004t0007 others(2): Show a0001c0001t0022 a0001c0001t0056 a0001c0004t0007 a0001c0004t0055 a0003c0010t0038	a0001c0001t0022g0100 a0001c0001t0056g0117 a0001c0004t0007g0064 others(2): Show a0001c0001t0022g0100 a0001c0001t0056g0117 a0001c0004t0007g0064 a0001c0004t0055g0077 a0003c0010t0038g0016	5	134	0.0373	-495	c.268 others(19): Show c.268+13297_269-13156del		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	4/23						chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(488): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCAC GTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG03239.hp2 others(3): Show HG01255.hp2 HG02451.hp1 HG03239.hp2 NA18948.hp1 NA19009.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0208 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0208 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0174	6	367	0.0163	-495	c.23 others(11): Show c.2390_*2884del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1420		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(488): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02257.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0053	4	313	0.0128	-495	c.23 others(11): Show c.2370_*2864del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(488): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	273	0.0037	-495	c.23 others(11): Show c.2315_*2809del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1345		chr16	TogoVar
DLGAP2_chr8_732628_1713476	1643575	CCCTCCAA others(488): Show CCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCCA ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCC GGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACC CTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTC ACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACC CCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	-495	c.181 others(21): Show c.1810+10532_1810+11026del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
F11R_chr1_160990211_161026152	161009708	CTATAATC others(488): Show CTATAATCCCAGCACTTTGGGAGGCCGATGTGGGTGGATTGCTTGAGGTC AGAAGTTTAAGACCAGCCGGGCCAACATGATAAAAATTACAAAAATTAGC CAGGCATGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGGAGAACC ACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGATATGGTGCCACTGT ACTTAGTCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAGTTTCCT CCCCATGAATCTGGGAGGGTCTTATGATTGACAATGGCATAATGGTAGAA GTGGCATATTATTAATGTTAGGCCTTATATGCATTTTCTCACTAAACTCT TAAAAAAAAAAAAAACCTATGAGACAAGTACCATTGAAGATTGAAGTACT ACCGTTACCATTTCATTTTACAGATGAAAAAACTGAGGCTTAGAACAGTT GACCCAGGCCAGGCATAGTGGCTCACACGTGTAATCCCAGAACTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18612.hp1 HG02071.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0077 a0001c0001t0010g0057 a0001c0001t0010g0077	2	390	0.0051	-495	c.65- others(15): Show c.65-8850_65-8356del		F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding	1/9						chr1	TogoVar
FLT4_chr5_180596506_180654600	180635482	GTGGGTGG others(488): Show GTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGTATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGG TGGATGGATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTG GGTGGATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGA TGGATGGGAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGATG GACGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGAA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0277 a0002c0004t0031g0277	1	349	0.0029	-495	c.59- others(15): Show c.59-4199_59-3705del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
MAD1L1_chr7_1810795_2237945	2035603	CGGGACAG others(488): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTGGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(46): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0004c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0144 others(46): Show a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0001t0005g0136 a0001c0001t0005g0222 a0001c0003t0001g0016 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0075 a0001c0003t0001g0089 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0004c0008t0001g0194	49	249	0.1968	-495	c.121 others(21): Show c.1219-21456_1219-20962del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18						chr7	TogoVar
PDZD2_chr5_31634131_32115932	32085198	TGCCTTGG others(488): Show TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACCGTGCCC AGCTGCCTTTTTTTTTTTTTAATTGACACATAATTGTACATACTTATGGA GCACAAAGTGGTACTTCAGTACATATATACATTGTGCAATGATTAAATCA GGGTAATTAGCATATCCATCACATCAAATGTATCATGTCTTTGTGGTAGG AACATCCCAAATTCTCTCTTCTAGCTATTTCAATAAATGCAATACCTTAT TATTATTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTACTCAGGCTGGA ATACAATGGCATGATCTTGGCTCACTGCAACTCCACCTCCCAGGTTCAAG CGATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCGTGTGCC ACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGAATTTCACCA TGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02647.hp1 others(5): Show HG01891.hp1 HG01891.hp2 HG02647.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03486.hp1 NA19240.hp2	a0007 a0009 a0018 others(3): Show a0007 a0009 a0018 a0019 a0027 a0036	a0007c0013 a0009c0014 a0018c0060 others(3): Show a0007c0013 a0009c0014 a0018c0060 a0019c0065 a0027c0047 a0036c0030	a0007c0013t0001 a0007c0013t0004 a0009c0014t0001 others(5): Show a0007c0013t0001 a0007c0013t0004 a0009c0014t0001 a0009c0014t0004 a0018c0060t0014 a0019c0065t0004 a0027c0047t0001 a0036c0030t0033	a0007c0013t0001g0200 a0007c0013t0004g0198 a0009c0014t0001g0043 others(5): Show a0007c0013t0001g0200 a0007c0013t0004g0198 a0009c0014t0001g0043 a0009c0014t0004g0062 a0018c0060t0014g0204 a0019c0065t0004g0052 a0027c0047t0001g0073 a0036c0030t0033g0103	8	214	0.0374	-495	c.368 others(19): Show c.3683-1895_3683-1401del		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	19/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLIN4_chr19_4497192_4523486	4512587	GTGGTGTC others(488): Show GTGGTGTCCACGCCTGTCTGGATGGTTCCTCTGGCCAAATTCATGGCACC AGTCACCCCACTGCAGACGGTGTCCTTTGTACCTGTTGCGATATTTTGGG TTGTGTTCAGCCCAGTTTGCATGGCCCCCTTGGCCACATTCGCTGCCCCT GTGAGCCCAGTGGACATCGTGTCTTTCGTACCCATGACCATAGACTTGGT GGTATCCAGGCCCCCCTGGATGGCCTCTTTGGCCAAGTTCACGGCACCGG TCACCCCACTGCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTG GTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGT CACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGG TGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTC ACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(33): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0002 a0011 a0013 others(5): Show a0002 a0011 a0013 a0014 a0015 a0033 a0038 a0047	a0002c0005 a0002c0010 a0002c0049 others(14): Show a0002c0005 a0002c0010 a0002c0049 a0002c0050 a0002c0054 a0002c0055 a0011c0021 a0011c0030 a0013c0046 a0013c0048 a0013c0053 a0014c0020 a0015c0029 a0015c0047 a0033c0052 a0038c0051 a0047c0085	a0002c0005t0004 a0002c0010t0001 a0002c0010t0007 others(18): Show a0002c0005t0004 a0002c0010t0001 a0002c0010t0007 a0002c0010t0014 a0002c0049t0033 a0002c0050t0007 a0002c0054t0001 a0002c0055t0004 a0011c0021t0004 a0011c0021t0008 a0011c0030t0002 a0013c0046t0008 a0013c0048t0035 a0013c0053t0004 a0014c0020t0008 a0015c0029t0011 a0015c0029t0024 a0015c0047t0004 a0033c0052t0027 a0038c0051t0004 a0047c0085t0007	a0002c0005t0004g0005 a0002c0005t0004g0061 a0002c0005t0004g0062 others(25): Show a0002c0005t0004g0005 a0002c0005t0004g0061 a0002c0005t0004g0062 a0002c0005t0004g0067 a0002c0010t0001g0088 a0002c0010t0007g0091 a0002c0010t0007g0092 a0002c0010t0007g0093 a0002c0010t0014g0089 a0002c0010t0014g0090 a0002c0049t0033g0273 a0002c0050t0007g0084 a0002c0054t0001g0087 a0002c0055t0004g0080 a0011c0021t0004g0029 a0011c0021t0008g0063 a0011c0030t0002g0068 a0011c0030t0002g0098 a0013c0046t0008g0064 a0013c0048t0035g0082 a0013c0053t0004g0086 a0014c0020t0008g0015 a0015c0029t0011g0065 a0015c0029t0024g0083 a0015c0047t0004g0081 a0033c0052t0027g0085 a0038c0051t0004g0066 a0047c0085t0007g0095	36	410	0.0878	-495	c.878 others(8): Show c.878_1372del	p.Ser others(13): Show p.Ser293_Thr457del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1491/6502	878/4116	293/1371			chr19	TogoVar
PPP2R3B_chrX_328933_391907	366097	AGAGGCTG others(488): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGAGGGTGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTG CACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAAC GATTAACCAGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02015.hp1 NA19088.hp1 HG01934.hp1 HG02015.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009	a0001c0002t0001g0010 a0001c0003t0001g0015 a0001c0003t0009g0005 a0001c0002t0001g0010 a0001c0003t0001g0015 a0001c0003t0009g0005	3	24	0.1250	-495	c.325 others(17): Show c.325-5002_325-4508del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366162	TACTGCAC others(488): Show TACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAA CAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCG AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGGTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGGTGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0024 a0004c0010t0008g0024	1	16	0.0625	-495	c.325 others(17): Show c.325-5067_325-4573del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366300	GGAGGGTG others(488): Show GGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGAC AGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTG GAGGGTGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGC TTCAACACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCAC TCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGAT TAACCAGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAG ATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAA AACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAG CTACTTGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0020 a0002c0001t0002g0020	1	22	0.0455	-495	c.325 others(17): Show c.325-5205_325-4711del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366305	GTGCAGTG others(488): Show GTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGT GAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGG TGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAA CACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAG CCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACC AGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAA AACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACT TGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0008 a0002c0001t0002g0008	1	9	0.1111	-495	c.325 others(17): Show c.325-5210_325-4716del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PRKCA_chr17_66297613_66815743	66799052	ATGGTGGT others(488): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18950.hp2 HG02698.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0055 a0001c0001t0005 a0001c0001t0055	a0001c0001t0005g0001 a0001c0001t0055g0062 a0001c0001t0005g0001 a0001c0001t0055g0062	2	104	0.0192	-495	c.185 others(19): Show c.1855-4800_1855-4306del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799088	GTGGTGGT others(488): Show GTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTG GTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 NA18942.hp2 HG02622.hp2 HG03195.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0093 a0001c0001t0016 a0001c0001t0024 a0001c0001t0093	a0001c0001t0016g0098 a0001c0001t0024g0120 a0001c0001t0093g0143 a0001c0001t0016g0098 a0001c0001t0024g0120 a0001c0001t0093g0143	3	155	0.0194	-495	c.185 others(19): Show c.1855-4770_1855-4276del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000382	ATGGGGCT others(488): Show ATGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCG GAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAG TGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGG AGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGT GGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGA GAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTG AGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0157 a0001c0001t0034g0157	1	156	0.0064	-495	c.120 others(19): Show c.1200+2064_1200+2558del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000440	GCAGAAGA others(488): Show GCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTC GTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGT GGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACA GAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTG GAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAG AAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGG AGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02683.hp1 HG01978.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0090 a0001c0024t0051 a0001c0002t0090 a0001c0024t0051	a0001c0002t0090g0170 a0001c0024t0051g0053 a0001c0002t0090g0170 a0001c0024t0051g0053	2	191	0.0105	-495	c.120 others(19): Show c.1200+2108_1200+2602del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000484	GGGCTCGT others(488): Show GGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAG GCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAA GGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGG CTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAG GGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGC TCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGG GACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02896.hp1 HG03130.hp1 others(2): Show HG02735.hp2 HG02896.hp1 HG03130.hp1 HG03471.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0013 a0001c0002t0044 a0001c0002t0054 others(2): Show a0001c0002t0013 a0001c0002t0044 a0001c0002t0054 a0001c0002t0138 a0001c0007t0040	a0001c0002t0013g0125 a0001c0002t0044g0185 a0001c0002t0054g0052 others(2): Show a0001c0002t0013g0125 a0001c0002t0044g0185 a0001c0002t0054g0052 a0001c0002t0138g0044 a0001c0007t0040g0015	5	213	0.0235	-495	c.120 others(19): Show c.1200+2127_1200+2621del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(488): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18950.hp1 NA18983.hp2 others(3): Show HG02040.hp1 NA18950.hp1 NA18983.hp2 NA18999.hp1 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 others(1): Show a0001c0002 a0001c0005 a0001c0009 a0001c0013	a0001c0002t0001 a0001c0002t0133 a0001c0005t0023 others(3): Show a0001c0002t0001 a0001c0002t0133 a0001c0005t0023 a0001c0009t0035 a0001c0013t0005 a0001c0013t0118	a0001c0002t0001g0046 a0001c0002t0133g0109 a0001c0005t0023g0111 others(3): Show a0001c0002t0001g0046 a0001c0002t0133g0109 a0001c0005t0023g0111 a0001c0009t0035g0166 a0001c0013t0005g0036 a0001c0013t0118g0031	6	197	0.0305	-495	c.120 others(19): Show c.1200+2163_1200+2657del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000638	ACAGAAGA others(488): Show ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTG GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGT GGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACA GAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTG GAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAG AAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGG AGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02148.hp2 others(6): Show HG00609.hp1 HG02056.hp1 HG02148.hp2 HG02622.hp1 HG03927.hp2 NA18944.hp1 NA18945.hp1 NA18975.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0002c0015	a0001c0001t0001 a0001c0001t0036 a0001c0001t0066 others(6): Show a0001c0001t0001 a0001c0001t0036 a0001c0001t0066 a0001c0001t0080 a0001c0001t0096 a0001c0001t0122 a0001c0005t0120 a0001c0010t0057 a0002c0015t0032	a0001c0001t0001g0134 a0001c0001t0036g0165 a0001c0001t0066g0038 others(6): Show a0001c0001t0001g0134 a0001c0001t0036g0165 a0001c0001t0066g0038 a0001c0001t0080g0048 a0001c0001t0096g0049 a0001c0001t0122g0207 a0001c0005t0120g0147 a0001c0010t0057g0090 a0002c0015t0032g0164	9	194	0.0464	-495	c.120 others(19): Show c.1200+2391_1200+2885del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000767	ACCAGGCT others(488): Show ACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCA CCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTT CCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCAC CAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCAGCCTCAGGGCCTTC CTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCC AGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCC TGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCA GGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCT GATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG03492.hp1 others(2): Show HG01074.hp1 HG01099.hp1 HG03492.hp1 HG03579.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0008	a0001c0002t0104 a0001c0005t0034 a0001c0007t0091 others(2): Show a0001c0002t0104 a0001c0005t0034 a0001c0007t0091 a0001c0009t0101 a0002c0008t0014	a0001c0002t0104g0080 a0001c0005t0034g0198 a0001c0007t0091g0114 others(2): Show a0001c0002t0104g0080 a0001c0005t0034g0198 a0001c0007t0091g0114 a0001c0009t0101g0014 a0002c0008t0014g0054	5	189	0.0265	-495	c.120 others(19): Show c.1200+2405_1200+2899del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000800	AATCAGCC others(488): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG02622.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0012 a0001c0023 a0002c0012	a0001c0023t0067 a0002c0012t0046 a0001c0023t0067 a0002c0012t0046	a0001c0023t0067g0009 a0002c0012t0046g0093 a0001c0023t0067g0009 a0002c0012t0046g0093	2	188	0.0106	-495	c.120 others(19): Show c.1200+2460_1200+2954del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000998	TATCAGCC others(488): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp2 NA18950.hp2 others(2): Show HG02015.hp1 HG02074.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0021 a0001c0001t0022 a0001c0005t0105 others(1): Show a0001c0001t0021 a0001c0001t0022 a0001c0005t0105 a0002c0008t0074	a0001c0001t0021g0172 a0001c0001t0022g0107 a0001c0001t0022g0180 others(2): Show a0001c0001t0021g0172 a0001c0001t0022g0107 a0001c0001t0022g0180 a0001c0005t0105g0212 a0002c0008t0074g0033	5	192	0.0260	-495	c.120 others(19): Show c.1200+2622_1200+3116del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24						chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000998	TATCAGCC others(488): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04204.hp1 HG02698.hp1 HG04204.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0017 a0001c0002 a0004c0017	a0001c0002t0116 a0004c0017t0014 a0001c0002t0116 a0004c0017t0014	a0001c0002t0116g0214 a0004c0017t0014g0103 a0001c0002t0116g0214 a0004c0017t0014g0103	2	189	0.0106	-495	c.120 others(19): Show c.1200+2688_1200+3182del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001097	TATCAGCC others(488): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAGATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0124 a0001c0013t0124	a0001c0013t0124g0076 a0001c0013t0124g0076	1	202	0.0050	-495	c.120 others(19): Show c.1200+2757_1200+3251del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88844701	ACTATCTA others(488): Show ACTATCTAAACACACAAAGAGACTTATTTTAAAATACAACTGTATAAAAC AGTATGAGAAAGTGGCACAATTCTACTGTAAGTTGATCGAAATATTTCAC ATCTAGGCCGGGTGTGGTGGCTCACACCTGTAGTCCCAGCACTTTGGAAG GCTGAGGCAGGAGGATCACATGAGCCCAGGAGTTTGAGGCTAGCCTGGGC AACAGAGCAAGACCACCACTTCCAAATTTTAAAAAATAAAAAATAAAATA AACAATTTCACATCTGAATTAAAGTATTAATATACTTACTATTTATAGGT ACAGAATCATTTTAAAATAGAAAAAATATATACTCACTAGTCTTTTTTAA TTATTTATATAAATTAGTTGAAACCCTTTAACAGTACCCTATTACAGTAT AAAAACTAAAATCCACAGAATTCAGAAAAGTACAAGCGAGTAACACACCA AAATAGGTCGCACAGTTACCTACAATGTTTTTTGTTGTTTAAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG01175.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0124 a0001c0001t0004g0125	2	218	0.0092	-495	c.110 others(17): Show c.1105-675_1105-181del		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	10/15						chr6	TogoVar
RPH3AL_chr17_207389_357807	220680	ACAGCTCT others(488): Show ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGC TCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGA GGCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGCACAACAGCTCGGAGACCTCCACT CGGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGA CCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAA GCACATCAGCTCTGAGGCCTCCACTTGGTGAGACAATAGACCCAAGCACA ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01515.hp1 others(1): Show HG00140.hp2 HG01070.hp2 HG01515.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0016 a0001c0001t0020 a0001c0002t0009 others(1): Show a0001c0001t0016 a0001c0001t0020 a0001c0002t0009 a0001c0003t0018	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0009g0126 others(1): Show a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0009g0126 a0001c0003t0018g0019	4	130	0.0308	-495	c.614 others(16): Show c.614-1439_614-945del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221430	ATAGACCC others(488): Show ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGA CCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAA GCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACA TCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAACAGC TCTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTGCATCAGCTCTGA GGGCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGGCTCCACTCACTG AGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0132 a0001c0001t0010g0015 a0001c0001t0005g0132 a0001c0001t0010g0015	2	132	0.0152	-495	c.614 others(17): Show c.614-2189_614-1695del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739874	AGCCGGAC others(488): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18995.hp2 NA18940.hp2 NA18995.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0080 a0003c0003t0001g0007 a0003c0003t0001g0080	2	408	0.0049	-495	c.-30 others(11): Show c.-3038_-2544del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2996		chr17	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(488): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0061 a0001c0001t0012g0061	1	262	0.0038	-495	c.970 others(19): Show c.970-21767_970-21273del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79919845	GGAGGAGA others(488): Show GGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTC AGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAG ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCG AGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	293	0.0034	-495	c.392 others(15): Show c.392-940_392-446del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920200	AGGAACCG others(488): Show AGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGA GAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCG AGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCA GGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0180 a0001c0001t0009g0180	1	277	0.0036	-495	c.392 others(16): Show c.392-1295_392-801del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TMEM132D_chr12_129066726_129909025	129388254	GACACCAA others(488): Show GACACCAATACTAACACCAACACCAATCCAGCACTGATGATAATATTAAC ACTAACATGAATCCTAATATAAACACTAACACCGACACCAATACTAACAC CAACACCAATCCAGCACTGATGATAATATTAACACTAACACGAATCCTAA TATAAACACTAACAGCAACACCAATACTAACACCAACACCAATCCAGCAC TGATGATAATATTAACACCAACACAAATCCTAATATAAACACTAATAGCA ACACCAATACTAACACCAACACCAATCCAGCACTGATGATAATATTAACA CTAACATGAATCCTAATATAAACACTAACACCGACACCAATACTAACACC AACACCAATCCAGCACTGATGATAATATTAACACTAACACTCATCCTAAT ATAAACACTAACACCGACACCAATACTAACACCAACACCAATCCAGCACT GATAATATTAACACTAACACTCATCCTAATATAAACACTAACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp1 HG02109.hp1 others(3): Show HG00099.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0004t0008	a0001c0001t0001g0014 a0001c0001t0002g0032 a0001c0001t0003g0055 others(3): Show a0001c0001t0001g0014 a0001c0001t0002g0032 a0001c0001t0003g0055 a0001c0001t0010g0028 a0001c0002t0004g0052 a0001c0004t0008g0089	6	91	0.0659	-495	c.111 others(21): Show c.1116-50932_1116-50438del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8						chr12	TogoVar
AIG1_chr6_143055889_143346058	143057183	GAAATGTG others(487): Show GAAATGTGTAAATATCGAATACTGCAAGGATATGTATAAACACAATTCTT CCTCCTGAACTTTTAAGCAACGACCAATAGTTACATAAAGTTGGCTTCTT GGAATACAATTTAAGGGTGACATAGGAGTCCCAGTCATTTCCCAAATTAA CAGGTATTATCATCAGTATGTCAGACAGACATCCTCCCTGATACGGTTTG GCTGTGTCCCCACCCAAATTTCATCTTGAATTGTAGCTCCCTTAATCTCC ACGCATTGTAGGGGGGGAACTGGTGGGAGGTAATTGAATCATGGGGGCAG GTTTTCCTGTGCTGTTCTTGTGATAGTGAATAAGTCTCAGGAGATCTGAT GGTTTTATAAAGGGCAGTTTCCTGCACACACTCTTTTGCCTGCCACCACG TAAGATGTGACTTTGCTCTTCCTTTATCTTCTGCCATGAGGGTGAAGCCT CCCCAGCCATGTGGAACTGTGAGTCCATTAAGACTCTTTTTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	202	0.0050	-494	c.-37 others(11): Show c.-3742_-3249del		AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding					3705		chr6	TogoVar
DPH7_chr9_137549444_137583925	137565812	TCTGTCTG others(487): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	321	0.0031	-494	c.641 others(16): Show c.641-1152_641-659del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565834	GGGGTGAC others(487): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG04204.hp2 HG03688.hp2 HG04115.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0118 a0001c0001t0001g0208 a0001c0001t0001g0222	3	284	0.0106	-494	c.641 others(16): Show c.641-1174_641-681del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818741	TTGAGGGG others(487): Show TTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	130	0.0077	-494	c.354 others(18): Show c.3540+603_3540+1096del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26						chr9	TogoVar
ERICH1_chr8_659200_736224	675814	CGGCGAGG others(487): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0352 a0001c0001t0002g0352	1	367	0.0027	-494	c.305 others(17): Show c.305-2261_305-1768del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675890	CCCCCTCG others(487): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGG CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01952.hp2 others(6): Show HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02300.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116	9	365	0.0247	-494	c.305 others(17): Show c.305-2337_305-1844del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675926	TGAGGACA others(487): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC GGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03041.hp1 HG02698.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0114 a0001c0002t0002g0336 a0001c0001t0001g0114 a0001c0002t0002g0336	2	365	0.0055	-494	c.305 others(17): Show c.305-2373_305-1880del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
MYT1_chr20_64159452_64247253	64175280	CCTGCAGC others(487): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	222	0.0045	-494	c.-99 others(19): Show c.-99+10544_-99+11037del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175580	TCTCCTGT others(487): Show TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	206	0.0049	-494	c.-99 others(19): Show c.-99+10848_-99+11341del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
P2RY8_chrX_1457581_1542185	1473530	TGGATGGG others(487): Show TGGATGGGTGGGTGGGTGGATGAATGGTAGGTGGGTTTGTGAATGGGTGG GTAGGTGGGTGAATGGGTGGATTGATGGATCAGTGTTTAGATAGGTGGAT GTGTGGGTGGATGAATGGATGGATTGATGGGTAGATGGATGGGTGGATGT ATAGATGAGTAGGTGGATGTATGGGTGGATAGATGGATGACTGGGTGGAT GGGTGGGTGGATGGATGATGAATGGATGGGGATGGGTAGATGGATGGGTG GGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTGGGTGGGTGGGT GGATGGGTGGATGGATGGATCAGTGTTTAGATAGGTGGATATGTGGGTGG ATGCATTGATGGTTGATGGGTAGATGGATTGGTGGATGTATAGATGAGTA GGTGGATGGGTGGGTGGATGGATGGGTGGATAGATGGATGAGTGGGTGGA TGGACGGATGCATGGATGAGTGGATGGATGGGTGGGTGGATGGGA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0024	1	113	0.0088	-494	c.-24 others(17): Show c.-24-7442_-24-6949del		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PCMT1_chr6_149744741_149816419	149762505	TATATATA others(487): Show TATATATATCTATGATATATATATCTATGATATATATATCTATGATATAT ATATATCTATGATATATATATCTATGATATATATATCTATGATATATATA TCTATGATATATATATATCTATGATATATATATATCTATGATATATATAT GATATATATATCTATGATATATATATATCTATGATATATATATATCTATG ATATATATATCTATGATATATATATCTATGATATATATATATCTATGATA TATATACCTATGATATATATATACCTATGATATATATACCTATGATATAT ATATCTATGATAATCTATGATATATATGATATATATATCTATGATATATA TCTATGATATATATATCTATGATATATATGTTATATATATCTATGATATA TATCTATGATATATATATCTATGATATATATGATATATATATCTATGATA TGTATATCTATGATATATATGATATATATATCTATGATATATATG	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	332	0.0030	-494	c.56- others(15): Show c.56-8648_56-8155del		PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137518252	CCCTCATT others(487): Show CCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACT CCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCC ATCCCCCACTCACTCATTCCACTCTGTCCACTCCATCCCTCACTCACTCA CTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCCATCCCCC ACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCCACTCTGT CCACTCCATCCCCCGTCACTCACTCCACTCTGCTCACTCCATCCCCCACT CACTCGCTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTG TCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCA CTCACTCATTCCACTCTGTCCACTCCATCCTCACTCACTCACTCCACTCT GCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp1 HG03471.hp2 HG01891.hp1 HG03130.hp1 HG03471.hp2	a0003 a0011 a0003 a0011	a0003c0057 a0011c0012 a0003c0057 a0011c0012	a0003c0057t0001 a0011c0012t0001 a0003c0057t0001 a0011c0012t0001	a0003c0057t0001g0176 a0011c0012t0001g0165 a0011c0012t0001g0166 a0003c0057t0001g0176 a0011c0012t0001g0165 a0011c0012t0001g0166	3	186	0.0161	-494	c.108 others(19): Show c.1084+1171_1084+1664del		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34						chr9	TogoVar

Search by Variant

Search

Search Results