Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK4_chr7_111721110_112211399	112066569	CGTGTGTA others(150): Show CGTGTGTATATGTATATATACACATATACATATATACACGTGTATACATA TATACGTGTATATATACACACATATACATATATACACATATTATACATAT ACATATACATATATACATATACATATATATATATATATATATATATATAT ATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	106	0.0094	-157	c.38- others(17): Show c.38-62595_38-62439del	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
EXD2_chr14_69186498_69249018	69248745	ACTATTAA others(150): Show ACTATTAATTTGCATCCCTCAGAGAGATTGTATGTGTGTGTGGTTTTGTT TTGTGTTTTAATTCCCAGGTTTCTTATTTGGTCGCGAACCAATAATATTC TCCACCCCTTTGTTTCACACTTTAGGCTCTAGTTTAGGGCATTTATGCAG AAACGTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0173 a0002c0002t0018g0173	1	234	0.0043	-157	c.76 others(11): Show c.7646_*7802del	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding		4728		chr14	TogoVar
EXT2_chr11_44090678_44256962	44123773	TCTCTGTC others(150): Show TCTCTGTCTTGTTTGAGTCTTGTCTTCCAGGAGGGAATTACTTCCCATCT GGTCTCTCCAAAATCTTCCCCTTGACTTCAGACTTACTAACTTTGTGTTT CCATATCTGTCTCTTGTGGAGATCTGCATGGCACTAGACCCTTGGAGATC TTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0313 a0001c0001t0047g0313	1	334	0.0030	-157	c.744 others(15): Show c.744-852_744-696del	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM227B_chr15_49321970_49625818	49372017	TCAATGAA others(150): Show TCAATGAAATAAAATTCACTTATAAATCAATGAAATAAAATTCACTTATA AATCAATGAAATAAAATTCATTTATAAATAAATGAAATAAAATTCATTTA TAAATAAATGAAATAAAATTCATTTATAAATAAATGAAATAAAATTCATT TATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	294	0.0034	-157	c.101 others(17): Show c.1013-775_1013-619del	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FHIP1A_chr4_151404176_151675503	151428996	GGACTTAC others(150): Show GGACTTACTGGTTATAATTTATATGCTTACATAAATTGTTTTCCCACCTG GCTGTACACTTCATGAAGGCAGGCAGTTCGCCTGTTTTGTTTTGTTCATA GTGTTTGGGTCTCACTATTATAGGCATTTACATCACTATGTATCTTTTTT TCCCATTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0246 a0001c0001t0037g0246	1	252	0.0040	-157	c.-35 others(21): Show c.-356+19619_-356+19775del	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAK_chr4_844277_937316	914823	ACGTACAC others(150): Show ACGTACACGGCCCCCAACACAGATAGCTCCAGCATGCACGGCCCCACACA CACACACAGCCCCAGCGTGCACGGCCCCACACACACACAGCCCCAGCATA TACGGCCCCCAACACACACAGCCCCAGCGTACACGGCCCCACACACACAC AGGTCCAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	390	0.0026	-157	c.146 others(17): Show c.146-1312_146-1156del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805252	TCCCCCCT others(150): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG03130.hp2 others(2): Show HG01074.hp1 HG01243.hp2 HG03130.hp2 NA18945.hp1 NA18959.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0002c0002t0002 a0007c0008t0001 a0002c0002t0001 a0002c0002t0002 a0007c0008t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0147 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0147 a0002c0002t0002g0120 a0007c0008t0001g0068	5	314	0.0159	-157	c.10 others(11): Show c.1087_*1243del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		966		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807261	TCCCCCCT others(150): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	314	0.0032	-157	c.30 others(11): Show c.3096_*3252del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2975		chr2	TogoVar
GCNT3_chr15_59606783_59627723	59611015	CCCCTCCC others(150): Show CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCCCTCCCCT CGCCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCCCCTCCCC TTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCC CTTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA19011.hp2 HG02040.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0008 a0001c0002t0005 a0001c0002t0008	a0001c0002t0005g0002 a0001c0002t0008g0002 a0001c0002t0005g0002 a0001c0002t0008g0002	2	428	0.0047	-157	c.-12 others(11): Show c.-1216_-1060del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		767		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611025	TCCCCTCC others(150): Show TCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCCCTCCCCTCGCCCTCCCC CTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCC CCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCC CCTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	428	0.0023	-157	c.-12 others(11): Show c.-1206_-1050del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		757		chr15	TogoVar
GLB1L3_chr11_134271379_134324564	134308166	CCAGCACC others(150): Show CCAGCACCACCACCATCACCATCATCACCATCACCACTACCACCACCACC ATCACCATCACCACCACCACCATCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCAAATACCACCACCACCACCACCACCACCACTACC ACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0117 a0003c0007t0001g0117	1	422	0.0024	-157	c.961 others(16): Show c.961+961_961+1117del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GNA11_chr19_3089362_3128999	3115824	GGGGTCAT others(150): Show GGGGTCATAGGGACTGAGTGGGGAGGAGGGGTCATAGGGACTGAGGCTGT GAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTCAT GGGGACCGAGGCTGTGAGGGGAGGAGGGGTCGTGGGGACCGAGGCTTTGA GGGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0084 a0001c0001t0036g0084	1	425	0.0024	-157	c.605 others(15): Show c.605+756_605+912del	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPD1L_chr3_32101620_32173709	32112226	TCAATACT others(150): Show TCAATACTTTGGGAGGCTGAGGTGGAGAATCATTTGAGCCCCACAATTTG AGTCCAGCCTGAGAAACATAGCAAGACCCTGTCTCTAAATCTAAAAAATA AATAAATAAAATATAAATAAAACTCATGGCCGGGCGCAGTGGCTCATGCC TGTAATCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00639.hp1 others(198): Show HG00323.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0019 a0001c0002t0029 a0001c0002t0030 a0001c0003t0012 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(184): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0002g0045 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0300 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0006g0272 a0001c0001t0007g0262 a0001c0001t0007g0281 a0001c0001t0007g0313 a0001c0001t0008g0018 a0001c0001t0008g0223 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0011g0054 a0001c0001t0011g0279 a0001c0001t0011g0280 a0001c0001t0011g0283 a0001c0001t0013g0028 a0001c0001t0016g0307 a0001c0001t0016g0308 a0001c0001t0017g0033 a0001c0001t0017g0041 a0001c0001t0018g0217 a0001c0001t0018g0218 a0001c0001t0024g0250 a0001c0001t0033g0266 a0001c0001t0034g0030 a0001c0001t0036g0220 a0001c0002t0001g0144 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0323 a0001c0002t0002g0286 a0001c0002t0002g0290 a0001c0002t0002g0295 a0001c0002t0004g0016 a0001c0002t0004g0149 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0315 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0004g0328 a0001c0002t0004g0330 a0001c0002t0004g0335 a0001c0002t0006g0022 a0001c0002t0006g0332 a0001c0002t0006g0333 a0001c0002t0006g0334 a0001c0002t0009g0302 a0001c0002t0009g0303 a0001c0002t0009g0304 a0001c0002t0010g0143 a0001c0002t0010g0147 a0001c0002t0010g0276 a0001c0002t0010g0277 a0001c0002t0014g0023 a0001c0002t0019g0306 a0001c0002t0029g0329 a0001c0002t0030g0331 a0001c0003t0012g0140 a0001c0003t0012g0141 a0001c0003t0012g0142 a0001c0004t0001g0146 a0001c0007t0001g0036 a0001c0008t0001g0145 a0002c0005t0007g0282	201	360	0.5583	-157	c.47+ others(15): Show c.47+5472_47+5628del	GPD1L	ENSG00000152642.11	transcript	ENST00000282541.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPR39_chr2_132411805_132651582	132493087	TATATATA others(150): Show TATATATACACCATATATATACCATATATACACATTCCATATATATACCA TATATATACATTCCATATATATACCATATATACACCATATATACACCATA TATATACACCATATATACACCATATATGTACACCATATATACACCATATA TATACACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03209.hp2 HG01884.hp2 HG02723.hp2 HG03209.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0005 a0002c0002 a0003c0004 a0004c0005	a0002c0002t0001 a0003c0004t0003 a0004c0005t0001 a0002c0002t0001 a0003c0004t0003 a0004c0005t0001	a0002c0002t0001g0027 a0003c0004t0003g0197 a0004c0005t0001g0033 a0002c0002t0001g0027 a0003c0004t0003g0197 a0004c0005t0001g0033	3	208	0.0144	-157	c.856 others(19): Show c.856+75218_856+75374del	GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
IQSEC3_chr12_61767_183455	151075	AACTTCGT others(150): Show AACTTCGTGTGCCCCAAGATGGAGACTCCGTCTCTCCTCCAGCGTGTGTC TGCACCATGATACACTCACACTAGAGAATGGTACCTCCAGGCCCCTGGGT TCTCCTGAGATGATTCAGTAGAGGGGAGGCACGGTAGCTATCTGAAAGAA CACCTCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(86): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18975.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19062.hp2 NA19081.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0013 a0014 a0018	a0001c0002 a0001c0003 a0001c0004 others(17): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0034 a0001c0042 a0002c0001 a0002c0009 a0002c0015 a0002c0040 a0003c0005 a0003c0010 a0003c0017 a0007c0021 a0007c0048 a0007c0049 a0008c0016 a0013c0022 a0014c0028 a0018c0054	a0001c0002t0002 a0001c0002t0003 a0001c0002t0043 others(33): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0048 a0001c0002t0055 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0004t0001 a0001c0004t0016 a0001c0006t0002 a0001c0006t0010 a0001c0006t0049 a0001c0034t0001 a0001c0042t0001 a0002c0001t0001 a0002c0001t0009 a0002c0009t0002 a0002c0015t0013 a0002c0040t0029 a0003c0005t0013 a0003c0005t0023 a0003c0010t0002 a0003c0010t0007 a0003c0017t0002 a0007c0021t0001 a0007c0048t0001 a0007c0049t0002 a0008c0016t0007 a0008c0016t0061 a0013c0022t0001 a0014c0028t0001 a0018c0054t0014	a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0035 others(85): Show a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0066 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0167 a0001c0002t0002g0179 a0001c0002t0002g0186 a0001c0002t0002g0205 a0001c0002t0002g0218 a0001c0002t0002g0239 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0261 a0001c0002t0003g0174 a0001c0002t0043g0131 a0001c0002t0044g0084 a0001c0002t0047g0201 a0001c0002t0048g0105 a0001c0002t0055g0256 a0001c0003t0001g0045 a0001c0003t0001g0101 a0001c0003t0001g0113 a0001c0003t0001g0157 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0002g0060 a0001c0003t0002g0102 a0001c0003t0002g0169 a0001c0003t0002g0187 a0001c0003t0007g0003 a0001c0003t0007g0004 a0001c0003t0010g0155 a0001c0003t0010g0232 a0001c0004t0001g0053 a0001c0004t0001g0180 a0001c0004t0001g0277 a0001c0004t0016g0223 a0001c0006t0002g0092 a0001c0006t0002g0095 a0001c0006t0002g0136 a0001c0006t0002g0145 a0001c0006t0002g0154 a0001c0006t0002g0188 a0001c0006t0002g0189 a0001c0006t0002g0196 a0001c0006t0002g0258 a0001c0006t0010g0209 a0001c0006t0010g0210 a0001c0006t0049g0144 a0001c0034t0001g0214 a0001c0042t0001g0243 a0002c0001t0001g0184 a0002c0001t0009g0064 a0002c0009t0002g0222 a0002c0009t0002g0262 a0002c0009t0002g0270 a0002c0015t0013g0018 a0002c0040t0029g0156 a0003c0005t0013g0036 a0003c0005t0023g0068 a0003c0005t0023g0245 a0003c0010t0002g0203 a0003c0010t0007g0268 a0003c0017t0002g0069 a0003c0017t0002g0089 a0007c0021t0001g0230 a0007c0048t0001g0221 a0007c0049t0002g0231 a0008c0016t0007g0037 a0008c0016t0007g0058 a0008c0016t0061g0015 a0013c0022t0001g0237 a0013c0022t0001g0259 a0014c0028t0001g0062 a0018c0054t0014g0279	89	282	0.3156	-157	c.215 others(19): Show c.2154-5872_2154-5716del	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF13A_chr6_17758693_17992635	17768862	AAGGCATA others(150): Show AAGGCATATTGTTGCTTCTGTCTTAGTCATGAGACATGAAGTACATCTGT ATGTCTTCCCAAATTGATCAAACAACAAAATATTGCTTAAAGAATCAAGC ATAGCCATGTTTACTATATTTTATGTGAAATTACAGAAGTTACTATGGTA ATTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0253 a0001c0033t0001g0253	1	282	0.0036	-157	c.458 others(19): Show c.4581+2095_4581+2251del	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	38/38			chr6	TogoVar
LAMA2_chr6_128878138_129521566	129286696	TATATATA others(150): Show TATATATAATAATATATAATATATTATATAATATATTATATAATATATAA TAATATATAATATATTATATAATATATAATAATATATAATATATTATATA ATATATAATAATATATAATATATTATATAATATATAATAATATATAATAT ATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02647.hp2 others(12): Show HG02257.hp1 HG02257.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp2 HG03688.hp1 HG06807.hp1 NA20129.hp1 NA21309.hp2	a0002 a0003 a0006 others(8): Show a0002 a0003 a0006 a0008 a0016 a0019 a0022 a0027 a0028 a0031 a0034	a0002c0004 a0002c0035 a0003c0002 others(11): Show a0002c0004 a0002c0035 a0003c0002 a0003c0020 a0006c0007 a0008c0016 a0008c0034 a0016c0070 a0019c0033 a0022c0019 a0027c0052 a0028c0053 a0031c0037 a0034c0055	a0002c0004t0001 a0002c0004t0007 a0002c0035t0006 others(12): Show a0002c0004t0001 a0002c0004t0007 a0002c0035t0006 a0003c0002t0001 a0003c0020t0008 a0006c0007t0002 a0008c0016t0002 a0008c0034t0002 a0016c0070t0001 a0019c0033t0001 a0022c0019t0002 a0027c0052t0001 a0028c0053t0003 a0031c0037t0001 a0034c0055t0002	a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0035t0006g0028 others(12): Show a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0035t0006g0028 a0003c0002t0001g0065 a0003c0020t0008g0027 a0006c0007t0002g0081 a0008c0016t0002g0023 a0008c0034t0002g0036 a0016c0070t0001g0051 a0019c0033t0001g0015 a0022c0019t0002g0012 a0027c0052t0001g0018 a0028c0053t0003g0079 a0031c0037t0001g0063 a0034c0055t0002g0030	15	88	0.1705	-157	c.253 others(18): Show c.2538-1115_2538-959del	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LRRC27_chr10_132327193_132386508	132352157	CCTCCGTG others(150): Show CCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGG CCTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGC ATGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGGGTGGGGCAGGCGCAG GTGCAGCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01361.hp2 others(22): Show HG00323.hp2 HG00735.hp2 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG06807.hp2 NA19030.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0003 a0001c0007 a0001c0013 others(2): Show a0001c0003 a0001c0007 a0001c0013 a0003c0008 a0008c0012	a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 others(3): Show a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0013t0007 a0003c0008t0007 a0008c0012t0006	a0001c0003t0006g0080 a0001c0003t0006g0082 a0001c0003t0006g0087 others(21): Show a0001c0003t0006g0080 a0001c0003t0006g0082 a0001c0003t0006g0087 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0091 a0001c0003t0006g0095 a0001c0003t0006g0096 a0001c0003t0006g0097 a0001c0003t0006g0098 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0007g0079 a0001c0003t0007g0085 a0001c0003t0007g0086 a0001c0003t0007g0092 a0001c0003t0007g0093 a0001c0003t0007g0094 a0001c0007t0007g0001 a0001c0013t0007g0081 a0003c0008t0007g0083 a0003c0008t0007g0084 a0008c0012t0006g0099	25	290	0.0862	-157	c.107 others(17): Show c.1073+446_1073+602del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L4_chr19_7032749_7045179	7035042	ATATATAA others(150): Show ATATATAATTATATTATATATATTATATTATTATAATATAATATATATAA TATTATATTATATAATTATATATATTATATATATATATTATATATTATAA TATTATATATAATATATATTATATATATATTATATTATATATATATAATA TATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01106.hp2 others(17): Show HG00597.hp2 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01361.hp2 HG02080.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA19084.hp2 NA19089.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0002g0006 a0001c0013t0002g0022 a0002c0002t0001g0002 others(3): Show a0001c0001t0002g0006 a0001c0013t0002g0022 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0003g0029	20	262	0.0763	-157	c.26 others(11): Show c.2662_*2818del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2706		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035042	ATATATAA others(150): Show ATATATAATTATATTATATATATTATATTATTATAATATAATATATATAA TATTATATTATATAATTATATATATTATATATATATATTATATATTATAA TATTATATATAATATATATTATATATATATTATATTATATATATATAATA TATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01169.hp1 others(16): Show HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01361.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03130.hp2 HG03516.hp2 HG03710.hp1 HG04199.hp2 NA18522.hp1 NA18995.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0018 a0002c0002 a0011c0018	a0002c0002t0001 a0011c0018t0001 a0002c0002t0001 a0011c0018t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0011c0018t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0002 a0011c0018t0001g0002	19	249	0.0763	-157	c.21 others(11): Show c.2149_*2305del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2032		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543560	TGGGCACG others(150): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGT GGTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0088 a0009c0011t0001g0088	1	286	0.0035	-157	c.153 others(18): Show c.1539+905_1539+1061del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1L_chr2_1784113_2336275	2034449	AACAATCT others(150): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0104 a0001c0002t0027g0104	1	104	0.0096	-157	c.-15 others(21): Show c.-158+19372_-158+19528del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NEU4_chr2_241804193_241822413	241805252	TCCCCCCT others(150): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03130.hp2 NA18945.hp1 others(1): Show HG01243.hp2 HG03130.hp2 NA18945.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 a0001c0001t0001 a0001c0001t0003 a0002c0003t0002	a0001c0001t0001g0041 a0001c0001t0003g0010 a0001c0001t0003g0094 others(1): Show a0001c0001t0001g0041 a0001c0001t0003g0010 a0001c0001t0003g0094 a0002c0003t0002g0139	4	319	0.0125	-157	c.-40 others(11): Show c.-4025_-3869del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3940		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807261	TCCCCCCT others(150): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18999.hp1 HG02027.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0015 a0002c0003t0002g0162 a0001c0002t0001g0015 a0002c0003t0002g0162	2	319	0.0063	-157	c.-20 others(11): Show c.-2016_-1860del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1931		chr2	TogoVar
NSMF_chr9_137442570_137464334	137451876	ACCTCTTC others(150): Show ACCTCTTCTCCTTGGTCTTCCCCAACCCCAGCCTCTTCCCCTTGGTCTCC CCCAGCCACACCTCTTCCCCTTGGTCTCCCCCAGCCACACGCCTCTTCCC CTTCGTTTCCCCCCGCCACACGCCTCTTCTCCTTGATCTTTCCCCCTCAA CATCTACG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0139 a0001c0001t0001g0074 a0001c0001t0002g0139	2	414	0.0048	-157	c.123 others(17): Show c.1236+332_1236+488del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OSBPL5_chr11_3082107_3170310	3103716	AGGCTCTG others(150): Show AGGCTCTGCTGCCCCTTCCTGCCTCTGCAACCCTCTTCCAGCTCTGCAGC CCCCTTCCAGCCTCTGCAGTCCCTTCCTGCCTCTGCAGCCCTCTTCCTGC CTGCGCAGCCCCCTTCCAGCCTCTGCAGCCCCTTTCCAGTCTGCGCAGCC CCCTTCCT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	326	0.0031	-157	c.124 others(17): Show c.1244+320_1245-397del	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
PAK5_chr20_9532370_9844076	9667349	TGCTTTGC others(150): Show TGCTTTGCCAGTCTGTGTTCAGGCCCTAAGAGACTAGCAGCTTCCATTCA CTATCTCCTGGAGCACTTGCTCTTGGAGTATTGAGTTCAACTACCCTGAG TATTGAATTCAACTACCCTAGCCATGTACAAGTGCTCCAGTCAACAGTCC CAGCTGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(56): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03579.hp1 HG03831.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18967.hp1 NA18972.hp2 NA18973.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp2 NA19070.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0004 a0001c0006 others(6): Show a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0002c0001 a0002c0007 a0003c0003 a0006c0014	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(17): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0004t0004 a0001c0004t0018 a0001c0006t0002 a0001c0006t0003 a0001c0009t0003 a0001c0011t0003 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0013 a0002c0001t0023 a0002c0007t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0012 a0006c0014t0004	a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0096 others(56): Show a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0096 a0001c0002t0002g0110 a0001c0002t0002g0152 a0001c0002t0002g0163 a0001c0002t0003g0011 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0166 a0001c0002t0004g0086 a0001c0002t0006g0169 a0001c0004t0004g0020 a0001c0004t0004g0050 a0001c0004t0004g0051 a0001c0004t0004g0066 a0001c0004t0004g0070 a0001c0004t0004g0108 a0001c0004t0004g0112 a0001c0004t0004g0127 a0001c0004t0004g0171 a0001c0004t0004g0179 a0001c0004t0004g0195 a0001c0004t0018g0040 a0001c0006t0002g0002 a0001c0006t0003g0160 a0001c0009t0003g0168 a0001c0011t0003g0205 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0027 a0002c0001t0001g0036 a0002c0001t0001g0043 a0002c0001t0001g0048 a0002c0001t0001g0058 a0002c0001t0001g0073 a0002c0001t0001g0095 a0002c0001t0001g0132 a0002c0001t0001g0135 a0002c0001t0001g0137 a0002c0001t0001g0148 a0002c0001t0001g0156 a0002c0001t0001g0177 a0002c0001t0001g0197 a0002c0001t0005g0161 a0002c0001t0009g0106 a0002c0001t0009g0117 a0002c0001t0013g0190 a0002c0001t0023g0041 a0002c0007t0001g0028 a0003c0003t0003g0026 a0003c0003t0003g0054 a0003c0003t0003g0099 a0003c0003t0003g0114 a0003c0003t0003g0144 a0003c0003t0003g0184 a0003c0003t0006g0072 a0003c0003t0012g0057 a0006c0014t0004g0122	59	208	0.2837	-157	c.-11 others(19): Show c.-11-23167_-11-23011del	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PIGL_chr17_16212210_16331411	16288966	ACTGATTT others(150): Show ACTGATTTGAGATGTAAAGTGATGGAGTGCAAAGACCACAGGTCTCTGTA TTCAAAGGTCTAGGTGCAAGGTACAACCTTACCGGATATTTCAGAGCTTG TCTTTTATAATTTTTGAGCTGAGAAGGTCAGGTGAGATAAACTGTATGGA CTGGAATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	246	0.0041	-157	c.336 others(19): Show c.336-10869_336-10713del	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGQ_chr16_564968_589109	585035	ACCCCCAA others(150): Show ACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCA ACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCC ACCAACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	408	0.0025	-157	c.20 others(11): Show c.2001_*2157del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		927		chr16	TogoVar
PIGQ_chr16_564968_589109	585161	TCCCCCCA others(150): Show TCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCC GCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTC CCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCC TCCCGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	408	0.0025	-157	c.21 others(11): Show c.2127_*2283del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		1053		chr16	TogoVar
POLE2_chr14_49638555_49693214	49652152	TAAGAATA others(150): Show TAAGAATAGAATACGGAGAGGAGAATGGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0008 a0003c0005 a0004c0009 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0004 a0002c0006t0002 a0002c0008t0002 a0003c0005t0002 a0004c0009t0002 a0005c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0065 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0211 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0088 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0002t0001g0173 a0001c0002t0001g0182 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0075 a0001c0002t0002g0135 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0162 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0215 a0001c0002t0003g0220 a0001c0002t0003g0222 a0001c0002t0003g0224 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0209 a0001c0003t0002g0213 a0001c0004t0004g0086 a0001c0004t0004g0160 a0002c0006t0002g0005 a0002c0008t0002g0227 a0003c0005t0002g0006 a0003c0005t0002g0007 a0004c0009t0002g0228 a0005c0007t0002g0161	160	234	0.6838	-157	c.121 others(17): Show c.1212-932_1212-776del	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782416	CCCCCCCT others(150): Show CCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCT CTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTC TCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCC CTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	138	0.0073	-157	c.94- others(15): Show c.94-3595_94-3439del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782468	CCCCCTTC others(150): Show CCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTC TCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCT CTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCT CCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	138	0.0073	-157	c.94- others(15): Show c.94-3545_94-3389del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41806189	TCACCACC others(150): Show TCACCACCACCACCATCACCATCACCATCACCATCACCACCATCACTACC ACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACC ATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0317 a0001c0004t0003g0317	1	406	0.0025	-157	c.265 others(19): Show c.2653-1732_2653-1576del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RAB40C_chr16_585066_634268	585161	TCCCCCCA others(150): Show TCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCC GCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTC CCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCC TCCCGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	350	0.0029	-157	c.-51 others(11): Show c.-5130_-4974del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		4904		chr16	TogoVar
RNF126_chr19_642526_668214	667323	GGACCACG others(150): Show GGACCACGTCCCAGGCGGACCAAGCCCAGGCGGACCACGTCCCAGGCGGA CCACGTCCCAGGCGGACCAAGCCCAGGTGGACCACGTCCCAGGCGGACCA CGTCCCAGGCGGACCAAGCCCAGGTGGACCACGTCCCAGGCGGACCATGT CCCAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(48): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01261.hp2 HG01975.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02293.hp1 HG02630.hp1 HG02896.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18950.hp2 NA18951.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003 a0003c0006 a0006c0013	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0004t0004 a0001c0007t0001 a0002c0003t0001 a0003c0006t0001 a0006c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(43): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0263 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0318 a0001c0002t0001g0308 a0001c0002t0001g0319 a0001c0002t0001g0352 a0001c0002t0001g0362 a0001c0004t0004g0164 a0001c0004t0004g0296 a0001c0007t0001g0163 a0001c0007t0001g0293 a0002c0003t0001g0320 a0003c0006t0001g0303 a0003c0006t0001g0314 a0003c0006t0001g0329 a0006c0013t0001g0317	51	434	0.1175	-157	c.-43 others(11): Show c.-4359_-4203del	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4110		chr19	TogoVar
SH3BP4_chr2_234947017_235060714	235038238	TTATATAT others(150): Show TTATATATATATTATATATAATATATATTATATATAATATATATTATATA TAATATATATATTATATATATATATTATATATTATATATATATTATATAT AGTATATATATTTTATATATATATATATAATATATATACATATATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(105): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0011	a0001c0002 a0001c0003 a0001c0006 others(7): Show a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0012 a0001c0022 a0001c0023 a0003c0007 a0006c0014 a0011c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0016 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0001c0022t0002 a0001c0023t0003 a0003c0007t0001 a0006c0014t0001 a0006c0014t0002 a0011c0026t0002	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 others(103): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0243 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0288 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0302 a0001c0002t0001g0311 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0325 a0001c0002t0002g0114 a0001c0002t0002g0148 a0001c0002t0002g0193 a0001c0002t0002g0217 a0001c0002t0002g0228 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0003g0027 a0001c0002t0003g0035 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0079 a0001c0002t0003g0083 a0001c0002t0003g0086 a0001c0002t0003g0100 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0144 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0221 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0240 a0001c0002t0003g0257 a0001c0002t0003g0300 a0001c0002t0003g0313 a0001c0002t0003g0341 a0001c0002t0004g0046 a0001c0002t0004g0123 a0001c0002t0004g0202 a0001c0002t0004g0305 a0001c0002t0009g0177 a0001c0002t0016g0039 a0001c0003t0001g0278 a0001c0006t0001g0095 a0001c0006t0001g0105 a0001c0006t0001g0145 a0001c0006t0001g0204 a0001c0006t0001g0296 a0001c0008t0001g0057 a0001c0008t0001g0108 a0001c0008t0001g0246 a0001c0012t0001g0001 a0001c0022t0002g0295 a0001c0023t0003g0024 a0003c0007t0001g0154 a0003c0007t0001g0181 a0006c0014t0001g0289 a0006c0014t0002g0179 a0011c0026t0002g0166	108	348	0.3103	-157	c.119 others(17): Show c.119-2638_119-2482del	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHROOM3_chr4_76430229_76788253	76487574	TTCTGGGT others(150): Show TTCTGGGTCCTGTATCAAACCTCCGCCTTACAATCCCCATCCATGTTGTG AGCCGGTAGGTGAACCACAGAAAATTGAAATGTACTACTGGGTTAGTCTC TTTGAACAGGGTCATACTTACATTGAATTCACTCTGATTTATTATTTTGC TACTGCAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0187 a0003c0003t0014g0187	1	218	0.0046	-157	c.168 others(19): Show c.168+51356_168+51512del	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC15A1_chr13_98678801_98757672	98679347	TATCCAAA others(150): Show TATCCAAAATAGGAATAACAAAACCTTCCTTAGTTTTGTTATAAGGATAA AAACAGAATTAATCCATACTGCCCATTGAACATTGGCAGTGAGAGGCGGC TCTGTGCAATGACTGGCAGCTGGGCTCTGGAGCAGGACTGGGATGGCCTG GGGCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	408	0.0025	-157	c.52 others(11): Show c.5220_*5376del	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding		4453		chr13	TogoVar
SLC35G4_chr18_11604596_11615612	11613770	CCACCCTG others(150): Show CCACCCTGTCTGGGAGGTGAGGAGCGCCTCTGCCTGGCCGCCCATCATCT GGGAGGTGAGGAGCACCTCTGCCCGGCCACCCATCGTCTGGTAGGTGAGG AGCGCCTCTGCCCGGCCGCCACCCCATCTAGGAAGTGAGGAGCGTCTCTG CCTGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0005 a0021 a0005 a0021	a0005c0006 a0021c0019 a0005c0006 a0021c0019	a0005c0006t0000 a0021c0019t0000 a0005c0006t0000 a0021c0019t0000	a0005c0006t0000g0000 a0021c0019t0000g0000 a0005c0006t0000g0000 a0021c0019t0000g0000	2	444	0.0045	-157	c.31 others(11): Show c.3159_*3315del	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		3159		chr18	TogoVar
SNTG2_chr2_945849_1372613	1106503	CGGGTGCA others(150): Show CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTGTGGAGAGCTCCTTGGTAACAGTGGACACGTGCTGT CACTTGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACACGCT GTCACTCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01261.hp2 others(14): Show HG01109.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG02071.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG03225.hp2 HG03453.hp1 HG03927.hp1 NA18522.hp1 NA18986.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012	a0001c0001 a0002c0003 a0002c0005 others(6): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0005c0006 a0005c0015 a0006c0009 a0010c0012 a0012c0019	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(7): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0010c0012t0001 a0012c0019t0001	a0001c0001t0001g0016 a0001c0001t0001g0187 a0002c0003t0001g0064 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0187 a0002c0003t0001g0064 a0002c0003t0001g0158 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0018 a0003c0007t0001g0104 a0003c0007t0002g0075 a0005c0006t0001g0079 a0005c0015t0001g0153 a0006c0009t0001g0011 a0006c0009t0001g0049 a0010c0012t0001g0166 a0012c0019t0001g0159	17	190	0.0895	-157	c.325 others(17): Show c.325+8096_325+8252del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7482499	ACCGCGGA others(150): Show ACCGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGACAC CCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGGCTGCT GTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTTAGACCTG TATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG02451.hp1 NA18962.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0048 a0002c0004 others(1): Show a0001c0001 a0001c0048 a0002c0004 a0006c0021	a0001c0001t0013 a0001c0048t0001 a0002c0004t0002 others(1): Show a0001c0001t0013 a0001c0048t0001 a0002c0004t0002 a0006c0021t0070	a0001c0001t0013g0125 a0001c0048t0001g0146 a0002c0004t0002g0013 others(1): Show a0001c0001t0013g0125 a0001c0048t0001g0146 a0002c0004t0002g0013 a0006c0021t0070g0103	4	168	0.0238	-157	c.549 others(19): Show c.549-49029_549-48873del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482595	TGCTGTTC others(150): Show TGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTTAGA CCTGTATCCCCGCTGCGGACACCCCTGGCTGCAGTTCAGACCTGTATCCC CACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACA CCCCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0011	1	168	0.0060	-157	c.549 others(19): Show c.549-48913_549-48757del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA7_chr14_88380657_88443460	88423674	TTTTTTTT others(150): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(313): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0010 others(8): Show a0001c0001 a0002c0002 a0002c0010 a0003c0003 a0004c0004 a0005c0006 a0005c0007 a0006c0005 a0007c0008 a0008c0009 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(10): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0010t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0005c0007t0001 a0006c0005t0001 a0006c0005t0003 a0007c0008t0001 a0008c0009t0001 a0009c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(248): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0277 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0184 a0002c0002t0001g0255 a0002c0002t0001g0264 a0002c0002t0001g0285 a0002c0002t0004g0116 a0002c0002t0004g0117 a0002c0010t0001g0125 a0003c0003t0001g0002 a0003c0003t0001g0027 a0003c0003t0001g0183 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0206 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0254 a0003c0003t0001g0261 a0003c0003t0001g0262 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0284 a0005c0006t0001g0034 a0005c0006t0001g0273 a0005c0006t0001g0274 a0005c0007t0001g0033 a0005c0007t0001g0271 a0006c0005t0001g0014 a0006c0005t0001g0039 a0006c0005t0003g0015 a0007c0008t0001g0275 a0007c0008t0001g0276 a0008c0009t0001g0272 a0009c0012t0001g0028	316	364	0.8681	-157	c.373 others(17): Show c.373-2557_373-2401del	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	5/11			chr14	TogoVar
SRBD1_chr2_45383680_45616267	45414926	CACACACA others(150): Show CACACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATA TAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACAC ATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGT ATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(52): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00733.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04184.hp2 HG04199.hp2 NA18949.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18983.hp2 NA18992.hp1 NA18995.hp2 NA19005.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19086.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0014	a0001c0001 a0003c0003 a0011c0013 others(1): Show a0001c0001 a0003c0003 a0011c0013 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0003c0003t0004 a0011c0013t0001 a0014c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0147 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0310 a0001c0001t0001g0344 a0001c0001t0002g0197 a0001c0001t0002g0205 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0112 a0003c0003t0001g0269 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0308 a0003c0003t0004g0298 a0011c0013t0001g0342 a0014c0021t0001g0094	55	358	0.1536	-157	c.233 others(19): Show c.2334-1790_2334-1634del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
STMN4_chr8_27230308_27263404	27254637	GGGGGTGG others(150): Show GGGGGTGGGGTGGGAGTGTTCAGATGTGGGGGTTCATGTGTGTGTAGGGG ATGGAGTGGGAGCACTCATATATGTGTGTGTAGGGGATGGAGTGGGAGCA CTCATATATGTGTGTGTAGGGGATGGAGTGGGAGCACTCACATCTGTGTG TAGGGGGT	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18997.hp2 NA18974.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0189 a0001c0001t0003g0190	2	434	0.0046	-157	c.-79 others(17): Show c.-79+3557_-79+3713del	STMN4	ENSG00000015592.17	transcript	ENST00000350889.9	protein_coding	1/6			chr8	TogoVar
TERT_chr5_1248167_1300068	1272909	CCGCCATC others(150): Show CCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCATCC AGTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTG TGACCGAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	392	0.0026	-157	c.228 others(17): Show c.2287-786_2287-630del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272911	GCCATCCA others(150): Show GCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCATCCAG TCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTG ACCGATCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19079.hp1 HG01361.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0367 a0001c0003t0001g0325 a0001c0001t0001g0367 a0001c0003t0001g0325	2	392	0.0051	-157	c.228 others(17): Show c.2287-788_2287-632del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TTBK2_chr15_42733730_42925778	42801161	GCTGCTGG others(150): Show GCTGCTGGTGGTCTTCATATGGATACTCATGTTCTGCATCCCAGACTCCA GCCAGCTCTCCTCGCCCTCCAACAGCTTCCTGTAGGTGGCGATCTTGATA TCCAGGGCCAGCTTGACGTTCATCAGCTCCTGGTACTCACGCAGCTGCCG CGCCATGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG02074.hp1 others(6): Show HG00639.hp1 HG00733.hp1 HG02074.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG03704.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0041 a0001c0001t0007 a0001c0001t0041	a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0165 others(6): Show a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0181 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0041g0195	9	248	0.0363	-157	c.823 others(17): Show c.823-6517_823-6361del	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	9/14			chr15	TogoVar
USP40_chr2_233470526_233571782	233566988	TTATAAGA others(150): Show TTATAAGATTATAGCTATATGATCTTATATAAGATTATAGCTATATGATC TTATATAAGATTATAGCTATATGATCTTATATAAGATTATAGCTATATGA TCCTTATATAAGATTATAGCTATATGATCTTATATAAGATTATAGCTATA TGATCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp1 NA19043.hp1 others(1): Show HG02572.hp2 HG02965.hp1 NA19043.hp1 NA20129.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0012 a0004c0004 a0009c0012	a0004c0004t0008 a0009c0012t0008 a0004c0004t0008 a0009c0012t0008	a0004c0004t0008g0047 a0004c0004t0008g0076 a0009c0012t0008g0046 others(1): Show a0004c0004t0008g0047 a0004c0004t0008g0076 a0009c0012t0008g0046 a0009c0012t0008g0079	4	324	0.0124	-157	c.-48 others(9): Show c.-481_-325del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		207		chr2	TogoVar